56 research outputs found
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
- Author
- A Kong
- A Lomniczi
- A Murphy
- A Schröder
- AA D’Aloisio
- Aarno Palotie
- AB Migliano
- Adamo Pio D’adamo
- Aida K. Dieffenbach
- AL Dixon
- Albert Hofman
- Albert V. Smith
- Albertine J. Oldehinkel
- Alexander Teumer
- Alison M. Dunning
- Andrea D. Coviello
- Andrea Ganna
- Andres Metspalu
- Andrew C. Heath
- Andrew D. Johnson
- André G. Uitterlinden
- Angela Cox
- Anja Rudolph
- Anna M. Storniolo
- Anna Murray
- Anneli Pouta
- Annika Lindblom
- Antonietta Robino
- AP Abreu
- Arto Mannermaa
- AS Dimas
- AV Segrè
- B Kabakchiev
- B Zhang
- BE Stranger
- Behrooz Z. Alizadeh
- Ben A. Oostra
- Bernardo Bonanni
- Bjarke Feenstra
- BP Fairfax
- Bruce H. R. Wolffenbuttel
- C Colantuoni
- C Liu
- C-J Partsch
- Carl Blomqvist
- Catharina A. Hartman
- Cathy E. Elks
- CE Elks
- Christian Gieger
- Chunyan He
- CJ Willer
- Cornelia M. van Duijn
- CP Schaaf
- Craig E. Pennell
- D Mehta
- D Sasayama
- DA Cusanovich
- Daniel F. Gudbjartsson
- Daniel I. Chasman
- Daniel L. Koller
- David Couper
- David J. Hunter
- David Karasik
- David P. Strachan
- David Schlessinger
- Debbie Lawlor
- Deborah J. Thompson
- Diana L. Cousminer
- Dieter Flesch-Janys
- Diether Lambrechts
- Dirkje S. Postma
- DM Greenawalt
- Doris Stöckl
- Dorret I. Boomsma
- Douglas F. Easton
- Douglas P. Kiel
- E Grundberg
- E Grundberg
- E Grundberg
- Eco E. J. de Geus
- EE Schadt
- EK Speliotes
- EL Heinzen
- Eleonora Porcu
- Elisabeth Widen
- Elizabeth A. Streeten
- Ellen A. Nohr
- Ellen W. Demerath
- Emmi Tikkanen
- Enda M. Byrne
- Eric Boerwinkle
- Erik Ingelsson
- Erin K. Wagner
- Eva Albrecht
- Evelin Mihailov
- F Innocenti
- F Nagl
- F Zou
- Felix Day
- Femke Atsma
- Fergus J. Couch
- Fernando Rivadeneira
- Frank B. Hu
- Frank Geller
- GA Heap
- George Davey Smith
- George McMahon
- Georgia Chenevix-Trench
- Gerard Waeber
- Gisli Masson
- Gonneke Willemsen
- Graham G. Giles
- Grant W. Montgomery
- Gudmar Thorleifsson
- Gudny Eiriksdottir
- H Lango Allen
- H-J Westra
- Harold Snieder
- Heather A. Boyd
- Heli Nevanlinna
- Henri Wallaschofski
- Henrik Flyger
- Henry Völzke
- Hermann Brenner
- HHH Göring
- Hiltrud Brauch
- Hoda Anton-Culver
- IK Temple
- Ilja M. Nolte
- Immaculata De Vivo
- Irene L. Andrulis
- J Ding
- J Huang
- J Yang
- J Yang
- J Yang
- J. Margriet Collée
- JA Webster
- Javier Benitez
- JC Barrett
- Jenny A. Visser
- Jenny Chang-Claude
- JF Degner
- Jing Hua Zhao
- Jinhui Chen
- Joanne M. Murabito
- Joe Dennis
- Johan G. Eriksson
- John L. Hopper
- John P. Rice
- John R. B. Perry
- Jonathan Tyrer
- Jouke-Jan Hottenga
- JR Gibbs
- Julia A. Knight
- Julian Peto
- Julie E. Buring
- K Estrada
- K Hao
- K Michailidou
- Kamila Czene
- Kari Stefansson
- Kathryn L. Lunetta
- Katri Pylkäs
- Kay-Tee Khaw
- Ken K. Ong
- KS Kompass
- Kyriaki Michailidou
- L Liang
- Laura Crisponi
- Laura J. Bierut
- Laura M. Yerges-Armstrong
- Lavinia Paternoster
- LB Barreiro
- LFG Silveira
- Lili Milani
- Lisette Stolk
- Lude Franke
- Luigi Ferrucci
- Lynda M. Rose
- M Horikoshi
- M Rantalainen
- Maartje J. Hooning
- Mads Melbye
- Manjeet K. Bolla
- Marek Zygmunt
- Margaret J. Wright
- Marjanka K. Schmidt
- Marjo-Riitta Järvelin
- Mark I. McCarthy
- Massimo Mangino
- Matthias W. Beckmann
- Meir J. Stampfer
- Melanie Waldenberger
- Melissa E. Garcia
- Mellissa C. Southey
- Michael J. Econs
- Montserrat García-Closas
- Munro Peacock
- N Ruf
- Najaf Amin
- Nancy L. Pedersen
- Natalia Tšernikova
- Nicholas G. Martin
- Nicholas J. Timpson
- Nicholas J. Wareham
- Nora Franceschini
- P Prentice
- Paolo Gasparini
- Paolo Peterlongo
- Paolo Radice
- Pascal Guénel
- Patrick F. McArdle
- Patrick Neven
- Patrick Sulem
- Patrik K. Magnusson
- Paul D. P. Pharoah
- Paul M. Ridker
- Per Hall
- Peter A. Fasching
- Peter Devilee
- Peter Kraft
- Peter Vollenweider
- Q Li
- Qin Wang
- Reedik Mägi
- Robert Winqvist
- Robin Haring
- Roger L. Milne
- RP Grinspon
- RS Huang
- RSN Fehrmann
- Ruth J. F. Loos
- S Cho
- S Constantin
- S Sulzbacher
- Sandra Lai
- Sanela Kjellqvist
- SE Parker
- Serena Sanna
- Sheila Ulivi
- Stefania Bandinelli
- Stephen Chanock
- Stig E. Bojesen
- Suiqun Guo
- Susan Ring
- Sven Bergmann
- T Kwan
- T Maeda
- T Zeller
- Tamara B. Harris
- Tanguy Corre
- Tatiana Foroud
- Teresa Ferreira
- Thorkild I. A. Sørensen
- Tim D. Spector
- Tune H. Pers
- Tõnu Esko
- Ulla Sovio
- Unnur Thorsteinsdottir
- Ute Hamann
- V Emilsson
- Veikko Salomaa
- Veli-Matti Kosma
- Vilmundur Gudnason
- W Zheng
- Wei Q. Ang
- Wendy L. McArdle
- Y Idaghdour
- Y Stelzer
- Z Zadik
- Zoltan Kutalik
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2014
- Field of study
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition
Stressed out symbiotes:hypotheses for the influence of abiotic stress on arbuscular mycorrhizal fungi
- Author
- A Antoninka
- A Heinemeyer
- A Heinemeyer
- A Lane
- A Marulanda
- A Morte
- A Ocón
- A Pringle
- A Schützendübel
- A Seguel
- AE Bennett
- AH Eom
- AH Eom
- AH Fitter
- AH Fitter
- AJ Antoninka
- AJ Bloom
- Alison E. Bennett
- AM Koch
- AM Koch
- B Estrada
- BA Bradley
- BAD Hetrick
- BM Benito
- BM Ohsowski
- BS Richter
- C Angelard
- C Egan
- C Gehring
- C Juge
- C Neuhauser
- C Urcelay
- C Val Del
- C Zheng
- CA Hanson
- CA Monz
- CA Zabinski
- CD Allen
- CK Ghalambor
- CV Hawkes
- D Johnson
- D Redecker
- DH Lambert
- DJ Bagyaraj
- DL Mummey
- E Neumann
- E Neumann
- E Orłowska
- E Pellegrino
- E Pendall
- E Verbruggen
- E Weis
- EB Allen
- ET Kiers
- F Song
- FT Davies Jr
- G Barrett
- G Bárzana
- G Lin
- GAK Wyatt
- GB Deyn De
- GN Al-Karaki
- GR Cramer
- H Evelin
- H Koyama
- H Lambers
- HG Mena-Violante
- HM Chen
- I Ceballos
- I Maček
- I Ortas
- IR Sanders
- J HilleRisLambers
- J Scheirs
- JA Lau
- JA Morgan
- JD Hoeksema
- JE Behm
- JE Mohan
- JF Cahill Jr
- JI Querejeta
- JM Diez
- JM Pardo
- JN Klironomos
- JN Klironomos
- JN Pearson
- JR Powell
- JR Vicente
- JS Dukes
- K Räsänen
- KB Nielsen
- KJ Roberts
- KK Treseder
- KM Jacobson
- KM Vogelsang
- KO Reinhart
- L Lanfranco
- L Martinez-Garcia
- L Munkvold
- L Pellissier
- LM Egerton-Warburton
- LTA Diepen van
- M Gholamhoseini
- M Gonzalez-Guerrero
- M Lindner
- M Miransari
- M Vellend
- M Zobel
- MA Nuñez
- MC Fitzpatrick
- MC González-Chávez
- MF Allen
- MM Alguacil
- N Feddermann
- N Suchkova
- NC Johnson
- NC Johnson
- NC Johnson
- NC Johnson
- NC Johnson
- NC Johnson
- Niall S. Millar
- NT Hausmann
- P Audet
- P Doubková
- P Hinsinger
- P Mariotte
- P Sochacki
- PA Olsson
- PD Stahl
- PJ Hanson
- PJ Prentis
- PL Chagnon
- PL Chagnon
- PL Staddon
- PM Antunes
- PM Antunes
- PR England
- R Borriello
- R Bunn
- R Hajiboland
- R Klabi
- R Klabi
- R Mendelsohn
- R Munns
- R Porcel
- R Porcel
- R Rodriguez
- RA Lankau
- RD Finlay
- RM Auge
- RS Redman
- S Appoloni
- S Chen
- S Compant
- S Deepika
- S Fracchia
- S Meier
- S Meier
- S Rasmann
- S Varela-Cervero
- S Yokota
- SA Mangan
- SE Smith
- SM Shannon
- T Camenzind
- TM Bezemer
- TR Scheublin
- V Reininger
- XF Sun
- Y Lekberg
- Á López-García
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Abiotic stress is a widespread threat to both plant and soil communities. Arbuscular mycorrhizal (AM) fungi can alleviate effects of abiotic stress by improving host plant stress tolerance, but the direct effects of abiotic stress on AM fungi are less well understood. We propose two hypotheses predicting how AM fungi will respond to abiotic stress. The stress exclusion hypothesis predicts that AM fungal abundance and diversity will decrease with persistent abiotic stress. The mycorrhizal stress adaptation hypothesis predicts that AM fungi will evolve in response to abiotic stress to maintain their fitness. We conclude that abiotic stress can have effects on AM fungi independent of the effects on the host plant. AM fungal communities will change in composition in response to abiotic stress, which may mean the loss of important individual species. This could alter feedbacks to the plant community and beyond. AM fungi will adapt to abiotic stress independent of their host plant. The adaptation of AM fungi to abiotic stress should allow the maintenance of the plant-AM fungal mutualism in the face of changing climates. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00442-016-3673-7) contains supplementary material, which is available to authorized users
New genetic loci link adipose and insulin biology to body fat distribution.
- Author
- Aalto Ville
- Aasarød Knut
- Abecasis Goncalo R
- Abecasis Gonçalo
- Absher Devin
- Adair Linda S
- Adam Martin
- Adeyemo Adebowale
- Ahlqvist Emma
- Ahmadi Kourosh R
- Ahola Aila
- Ainali Chrysanthi
- Akylbekova Ermeg
- Ala-Korpela Mika
- Alavere Helen
- Albagha Omar M E
- Albrecht Eva
- Alen Markku
- Alexander Myriam
- Alhenc-Gelas François
- Alizadeh Behrooz Z
- Allison Matthew A
- Alonso Nerea
- Altshuler David
- Ambite Jose Luis
- Amin Najaf
- Amouyel Philippe
- An Ping
- Anderson Carl A
- Anderson Denise
- Anderson Garnet
- Andrews Jeanette S
- Antonella Mulas
- Antti Jula
- Aragaki Aaron K
- Arking Dan E
- Arnold Alice
- Arnold Alice M
- Arora Pankaj
- Arscott Gillian M
- Artigas Maria Soler
- Arveiler Dominique
- Asiki Gershim
- Aspelund Thor
- Assimes Themistocles L
- Atalay Mustafa
- Atkinson Elizabeth J
- Aulchenko Yurii
- Avery Christy
- Bain Stephen C
- Bakker Stephan J L
- Balcells Susana
- Balkau Beverley
- Ballantyne Christie M
- Balmforth Anthony J
- Bandinelli Stefania
- Barbalic Maja
- Barrett Amy
- Barroso Ines
- Barroso Inês
- Basart Hanneke
- Basart Hanneke V
- Bataille Veronique
- Baumert Jens
- Beckmann Jacques S
- Beekman Marian
- Been Latonya F
- Beilby John
- Beilby John P
- Bell Jordana T
- Bellis Claire
- Bennett Amanda J
- Bennett Franklyn
- Berenson Gerald S
- Bergman Richard N
- Bergmann Sven
- Berndt Sonja I
- Berne Christian
- Bidulescu Aurelian
- Bielak Lawrence F
- Bierut Laura J
- Biffar Reiner
- Bis Joshua C
- Blackburn Hannah
- Blangero John
- Blankenberg Stefan S
- Blüher Matthias
- Boban Mladen
- Bochud Murielle
- Boehm Bernhard O
- Boehnke Michael
- Boerwinkle Eric
- Boezen H Marike
- Bolton Jennifer L
- Bolton Judith A Hoffman
- Bonnet Fabrice
- Bonnycastle Lori L
- Boomsma Dorret I
- Borecki Ingrid
- Boright Andrew P
- Borja Judith B
- Bornstein Stefan R
- Boston Jonathan
- Bots Michiel L
- Bouatia-Naji Nabila
- Bouchard Claude
- Bovet Pascal
- Boyd Heather A
- Bragg-Gresham Jennifer L
- Brambilla Paolo
- Brand Eva
- Brand Stefan-Martin
- Brandi Maria Luisa
- Braund Peter S
- Brennan Eoin P
- Brismar Kerstin
- Brody Jennifer
- Broekmans Frank J
- Broer Linda
- Brown Matthew A
- Brown Morris J
- Brown-Gentry Kristin
- Bruinenberg Marcel
- Buchkovich Martin L
- Buckley Brendan M
- Buil Alfonso
- Bull Shelley B
- Burgdorf Christof
- Buring Julie E
- Burnett Mary S
- Burnier Michel
- Burri Andrea
- Burton Paul R
- Bush William S
- Busonero Fabio
- Buxbaum Sarah G
- Buyske Steve
- Buzkova Petra
- Byrne Enda M
- Böger Carsten A
- Böhringer Stefan
- Böttcher Yvonne
- Cambien Francois
- Campbell Harry
- Campbell Susan
- Carba Delia B
- Carlson Chris
- Carlson Olga D
- Carty Cara
- Casas Juan P
- Caspersen Ida H
- Castano-Betancourt Martha
- Cauchi Stéphane
- Cauley Jane A
- Caulfield Mark
- Cavalieri Margherita
- Cazier Jean-Baptiste
- Center Jacqueline R
- Cesana Giancarlo
- Chakravarti Aravinda
- Chambers John
- Chandak Giriraj R
- Chang Hsing-Yi
- Chang Yen-Pei C
- Chanock Stephen J
- Charchar Fadi J
- Chasman Dan
- Chaturvedi Nish
- Chen Constance
- Chen Han
- Chen Ida
- Chen Jin
- Chen Ming-Huei
- Chen Wei
- Chen Yii-Der Ida
- Cheng Iona
- Cheng Sulin
- Chines Peter S
- Cho Yoon Shin
- Choi Murim
- Chouraki Vincent
- Christiansen Claus
- Chu Audrey Y
- Cimponeriu Dan
- Ciullo Marina
- Clark Graeme R
- Clarke Robert
- Claudi-Boehm Simone
- Coassin Stefan
- Cochran Barbara
- Cole Shelley
- Colhoun Helen
- Colhoun Helen M
- Collins Francis S
- Collins Rory
- Connell John M
- Cooper Cyrus
- Cooper Jackie A
- Cooper Matthew N
- Cooper Richard S
- Coresh Josef
- Cornelis Marilyn C
- Corre Tanguy
- Corsi Anna Maria
- Couper David
- Cousminer Diana L
- Coviello Andrea D
- Cox David
- Crawford Dana
- Crisponi Laura
- Croteau-Chonka Damien C
- Cucca Francesco
- Cummings Steven R
- Cupples Adrienne L
- Cupples L Adrienne
- Curhan Gary
- d'Adamo Pio
- Dahgam Santosh
- Dailiana Zoe
- Danesh John
- Danoy Patrick
- Dastani Zari
- Davies Gail
- Daw E Warwick
- Day Felix R
- Day Ian N M
- de Andrade Mariza
- de Boer Ian H
- de Boer Rudolf A
- de Faire Ulf
- de Geus Eco J C
- Deary Ian J
- Dedoussis George
- Dedoussis George V
- Dedoussis George V Z
- Deelen Joris
- Deelman Ewa
- Dehghan Abbas
- Delgado Graciela
- Deloukas Panagiotis
- Deloukas Panos
- Demerath Ellen W
- Demirkan Ayse
- Demirkan Ayşe
- Den Hertog Heleen M
- Denniff Matthew
- Dennison Elaine M
- Dermitzakis Emmanouil T
- Deshmukh Harshal
- Deshmukh Harshal A
- Devuyst Olivier
- di Meglio Paola
- Diemert Patrick
- Dimas Antigone S
- Dimitriou Maria
- Ding Jingzhong
- Do Ron
- Dominiczak Anna F
- Doney Alex
- Dong Yanbin
- Donnelly Louise A
- Doumatey Ayo
- Dreisbach Albert W
- Drong Alexander W
- Duggan David
- Dumitrescu Logan
- Duncan Bruce B
- Duncan Emma L
- Dupuis Josee
- Dupuis Josée
- Durbin Richard
- Durda Peter
- Döring Angela
- Dörr Marcus
- Eastell Richard
- Easton Douglas F
- Ebrahim Shah
- Econs Michael J
- Edkins Sarah
- Egan Josephine
- Ehret Georg
- Eiriksdottir Gudny
- Eisman John A
- Eklund Niina
- El Mokhtari NourEddine
- Elks Cathy E
- Ellinghaus David
- Elliott Paul
- Elosua Roberto
- Emilsson Valur
- Endlich Karlhans
- Epstein Stephen E
- Erbel Raimund
- Erdmann Jeanette
- Erdos Michael R
- Eriksson Joel
- Eriksson Johan
- Eriksson Niclas
- Eriksson Per
- Ernst Florian
- Esko Tonu
- Esko Tõnu
- Esko Tönu
- Estrada Karol
- Eury Elodie
- Evangelou Evangelos
- Evans Alun
- Evans David M
- Eyheramendy Susana
- Eyjolfsson Gudmundur Ingi
- Fagerholm Emma
- Falhammar Henrik
- Fall Tove
- Farrall Martin
- Fauser Bart C J M
- Fava Cristiano
- Feenstra Bjarke
- Fehrmann Rudolf
- Feitosa Mary
- Feranil Alan B
- Ferrannini Ele
- Ferrario Marco M
- Ferreira Teresa
- Ferreli Liana
- Ferrières Jean
- Ferrucci Luigi
- Fischer Krista
- Florez Jose C
- Folkersen Lasse
- Folsom Aaron R
- Fontanillas Pierre
- Ford Ian
- Fornage Myriam
- Foroud Tatiana
- Forouhi Nita G
- Forrester Terrence
- Forsblom Carol
- Foster Meredith C
- Fowke Jay
- Fowkes F Gerald R
- Fowkes Gerard R
- Fox Caroline S
- Fox Ervin R
- Franceschini Nora
- Franco Oscar H
- Franco-Cereceda Anders
- Franke Andre
- Franke Lude
- Franks Paul W
- Frants Rune
- Fraser Ross M
- Frayling Timothy M
- Freedman Barry I
- Freimer Nelson B
- Freitag Daniel F
- Friedrich Nele
- Froguel Philippe
- Frost Morten
- Fuchsberger Christian
- Galan Pilar
- Ganesh Santhi K
- Ganna Andrea
- Gansevoort Ron T
- Gao Xiaoyi
- Garcia Melissa
- Garcia-Giralt Natàlia
- Garnaas Maija
- Gasparini Paolo
- Gauguier Dominique
- Gaunt Tom R
- Gautvik Kaare M
- Geller Frank
- Gharavi Ali G
- Giedraitis Vilmantas
- Gieger Christian
- Gierman Hinco J
- Gigante Bruna
- Gill Geoffrey V
- Giroux Sylvie
- Giulianini Franco
- Glass Daniel
- Glazer Nicole
- Glazer Nicole L
- Glenn Kim
- Glorioso Nicola
- Go Alan S
- Go Min Jin
- Godson Catherine
- Goel Anuj
- Goessling Wolfram
- Golay Alain
- Goldstein Benjamin A
- Goltzman David
- Gong Jian
- González-Macías Jesús
- Goodall Alison H
- Goodarzi Mark O
- Goodloe Robert
- Gordin Daniel
- Gordon Scott D
- Gorski Mathias
- Grabe Hans-Jörgen
- Graff Misa
- Grallert Harald
- Grammer Tanja B
- Gravito Martha L
- Greenwood Celia M T
- Grewal Jagvir
- Grimsby Jonna
- Grobbee Diederick E
- Groop Leif
- Groop Per-Henrik
- Gross Myron
- Groves Christopher J
- Grundberg Elin
- Grässler Jürgen
- Gräßler Jürgen
- Gu Harvest F
- Gu Tianwei
- Guarrera Simonetta
- Gudbjartsson Daniel F
- Gudnason Villi
- Gudnason Vilmundur
- Guiducci Candace
- Guo Qun
- Guo Xiuqing
- Gurdasani Deepti
- Gustafsson Stefan
- Gyllensten Ulf
- Gyllensten Ulf B
- Hadjadj Samy
- Hadley David
- Haessler Jeff
- Hager Jörg
- Haiman Christopher
- Haines Jonathan
- Hall Alistair S
- Hall Per
- Hallan Stein
- Haller Toomas
- Hallmans Goran
- Hallmans Göran
- Hamsten Anders
- Han Bok-Ghee
- Hankinson Susan E
- Hanson Robert L
- Hardy Rebecca
- Haritunians Talin
- Harjutsalo Valma
- Harris Tamara
- Hartikainen Anna-Liisa
- Hartman Catharina A
- Hass Merli
- Hassanali Neelam
- Hassinen Maija
- Hastie Nicholas D
- Hastie Nick
- Hattersley Andrew T
- Haun Margot
- Havulinna Aki S
- Hayward Caroline
- Hazen Stanley L
- He Bing
- He Chunyan
- Heard-Costa Nancy L
- Heath Andrew C
- Heath Simon
- Heckbert Susan R
- Hedblad Bo
- Hedman Åsa K
- Heid Iris M
- Heikkilä Kauko
- Heikkilä Outi
- Heiss Gerardo
- Heliövaara Markku
- Helmer Catherine
- Helmer Quinta
- Henders Anjali K
- Henderson Brian
- Hengstenberg Christian
- Henneman Peter
- Hercberg Serge
- Herder Christian
- Hernandez Dena
- Hernandez Dena G
- Herrera Lizbeth
- Herzig Karl-Heinz
- Hicks Andrew A
- Hietala Kustaa
- Higashio Julia
- Hillege Hans L
- Hilton Gina
- Hindorff Lucia
- Hingorani Aroon
- Hirschhorn Joel N
- Hivert Marie-France
- Ho Weang K
- Hocking Lynne J
- Hoffmann Wolfgang
- Hofman Albert
- Holliday Elizabeth G
- Holm Hilma
- Holmen Oddgeir
- Homuth Georg
- Hopewell Jemma C
- Horikoshi Momoko
- Hosseini Mohsen
- Hottenga Jouke-Jan
- Hovingh G Kees
- Howard Philip
- Hsiung Chao Agnes
- Hsu Yi-Hsiang
- Hu Frank B
- Huang Huateng
- Huang Jinyan
- Hui Jennie
- Humphries Steve E
- Hundertmark Claudia
- Hung Yi-Jen
- Hunt Sarah E
- Hunt Steven C
- Hunter David J
- Husted Lise Bjerre
- Hveem Kristian
- Hwang Shih-Jen
- Hyppönen Elina
- Igl Wilmar
- Ikram M Arfan
- Illig Thomas
- Imboden Medea
- Ingelsson Erik
- Ingle Catherine
- Ingvarsson Thorvaldur
- Ioannidis John P A
- Iribarren Carlos
- Isaacs Aaron
- Isakova Tamara
- Islam Muhammad
- Ittermann Till
- Iwai Naoharu
- Jackson Anne U
- Jackson Rebecca
- Jacobs Gunnar
- Jafar Tazeen H
- James Alan L
- Jameson Karen A
- Jang Yangsoo
- Janipalli Charles S
- Jansen Hanneke
- Janssens A Cecile J W
- Jarvelin Marjo-Riitta
- Jeff Janina
- Jenny Nancy
- Johannsdottir Hrefna
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- Willemsen Gonneke
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- Willenborg Christina
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- Williams Winfred W
- Willner Dana
- Wilsgaard Tom
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- Wilson James G
- Wilson Sarah
- Wilson Scott G
- Winkler Thomas
- Witteman Jacqueline C
- Witteman Jacqueline C M
- Wojczynski Mary K
- Wolffenbuttel Bruce H R
- Wong Andrew
- Wong Tien Y
- Woo Jean
- Wood Andrew R
- Wood Andy
- Workalemahu Tsegaselassie
- Wright Alan F
- Wu Chunyuan
- Wu Joseph M W
- Wu Ying
- Würtz Peter
- Xiao Su-Mei
- Yajnik Chittaranjan S
- Yang Jian
- Yang Qiong
- Yang Tsun-Po
- Yao Jie
- Yengo Loïc
- Yerges-Armstrong Laura M
- Young Alicia
- Young Elizabeth H
- Young J H
- Young Lauren
- Yuan Xin
- Zaboli Ghazal
- Zalloua Pierre A
- Zarrabeitia María T
- Zelenika Diana
- Zemunik Tatijana
- Zerbini Gianpaolo
- Zgaga Lina
- Zhai Guangju
- Zhang Feng
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Zhao Wei
- Zheng Hou-Feng
- Zheng Wei
- Zhou Yanhua
- Zhu Haidong
- Zhu Kun
- Zhu Xiaofeng
- Zhuang Wei V
- Zhuang Wei Vivian
- Ziegler Andreas
- Zillikens M Carola
- Zimmermann Martina E
- Zitting Paavo
- Zondervan Krina T
- Zukowska-Szczechowska Ewa
- Zygmunt Marek
- Ärnlöv Johan
- Österholm Anne-May
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
- Author
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Baets Jonathan
- Balicza Peter
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Banka Siddharth
- Beeson David
- Beijer Danique
- Beijer Danique
- Beltran Sergi
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bonne Gisèle
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Capella Gabriel
- Capella Gabriel
- Carneiro Fátima
- Casari Giorgio
- Castello Raffaele
- Chinnery Patrick
- Ciolfi Andrea
- Clayton-Smith Jill
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Corvo Alberto
- Corvó Alberto
- Cossins Judith
- Cossins Judith
- Costa Alessia
- Cruz Pedro M. Rodriguez
- Cruz Pedro M. Rodriguez
- Cuesta Isabel
- Dallapiccola Bruno
- Danis Daniel
- Davoine Claire-Sophie
- de Benito Daniel Natera
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- de la Rosa F. Javier Alonso García
- de Voer Richarda
- de Voer Richarda M.
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Diez Hector
- Dizjikan Farid Yavari
- Duffourd Yannis
- Durr Alexandra
- Dürr Alexandra
- Ellwanger Kornelia
- Evangelista Teresinha
- Evans Gareth
- Eymard Bruno
- Faivre Laurence
- Faivre Laurence
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Garcia Carles
- Garcia-Linares Carles
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Graessner Holm
- Graessner Holm
- Graessner Holm
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo
- Gut Ivo Glynne
- Haack Tobias
- Haack Tobias B.
- Hackman Peter
- Hackman Peter
- Hammarsjö Anna
- Hanauer Marc
- Hanna Michael G.
- Hanna Mike
- Havlovicova Marketa
- Havlovicová Markéta
- Havrylenko Svitlana
- Heinzmann Anna
- Hengel Holger
- Hernández Carles
- Hernández-Ferrer Carles
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Hoischen Alexander
- Holinski-Feder Elke
- Holinski-Feder Elke
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houlden Henry
- Houlden Henry
- Hugon Anne
- Izem Katia
- Jackson Adam
- Jackson Adam
- Janssen Erik
- Johansson Lennart
- Johari Mridul
- Johari Mridul
- Johari Mridul
- Joshi Ricky
- José Celina São
- Kamsteeg Christoph
- Kamsteeg Erik-Jan
- Keane Thomas
- Kessler Christoph
- Kleefstra Tjitske
- Kremlik Vlastimil
- Kremliková Radka Pourová
- Köhler Sebastian
- Lagorce David
- Laner Andreas
- Laner Andreas
- Lau Jarred
- Laurie Steven
- Laurie Steven
- Li Shuang
- Lindstrand Anna
- Lochmüller Hanns
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Lohmann Katja
- López-Martín Estrella
- Macaya Alfons
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macken William L.
- Marcé-Grau Anna
- Marcé-Grau Anna
- Martín Estrella López
- Matalonga Leslie
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- Maver Ales
- Mehtarizadeh Mehdi
- Metay Corinne
- Metcalfe Alison
- Molnar Judit
- Molnar Maria Judit
- Morleo Manuela
- Muntoni Francesco
- Musacchia Francesco
- Münchau Alexander
- Münchau Alexander
- Nascimento Andres
- Natera-de Benito Daniel
- Neerincx Pieter B.
- Nelson Isabelle
- Neri Marcella
- Nigro Vicenzo
- Nigro Vincenzo
- Nordgren Ann
- Oliveira Carla
- Olry Annie
- Osorio Andres Nascimiento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Papakonstantinou Anastasios
- Paramonov Ida
- Paramonov Ida
- Parkinson Helen
- Paske Iris te
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peterlin Borut
- Peters Sophia
- Pettersson Maria
- Peyron Christine
- Picó Daniel
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Pini Veronica
- Piscia Davide
- Piscia Davide
- Pitceathly Robert D. S.
- Pizzi Simone
- Polavarapu Kiran
- Polavarapu Kiran
- Posada Manuel
- Prasanth Sivakumar
- Pélissier Aurore
- Radio Francesca Clementina
- Radio Francesca Clementina
- Rath Ana
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rigour Fanny
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rooryck Caroline
- Rossi Rachele
- Rump Andreas
- Rump Andreas
- Ryba Lukas
- Sablauskas Karolis
- Sablauskas Karolis
- Sarkozy Anna
- Savarese Marco
- Savarese Marco
- Savarese Marco
- Scheffer Hans
- Schröck Evelin
- Schröck Evelin
- Schulze-Hentrich Julia M.
- Schwarz Martin
- Schöls Ludger
- Schüle Rebecca
- Schüle Rebecca
- Schüle-Freyer Rebecca
- Selvatici Rita
- Senf Alexander
- Shorter Thomas
- Sommer Anna Katharina
- Spalding Dylan
- Specht Sabine
- Spier Isabel
- Steehouwer Marloes
- Steinke-Lange Verena
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Synofzik Matthis
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thauvin Christel
- Thomasová Dana
- Thompson Rachel
- Thompson Rachel
- Timmerman Vincent
- Tischkowitz Marc
- Tisserant Emilie
- Tonda Raul
- Torella Annalaura
- Torella Annalaura
- Trimouille Aurelien
- Trimouille Aurélien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Udd Bjarne
- Valle Laura
- Valle Laura
- Van de Vondel Liedewei
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verloes Alain
- Vissers Lisenka
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Vitobello Antonio
- Votypka Pavel
- Vyshka Klea
- Wadsley Marc
- Warren Greg
- Wayand Melanie
- Wilke Carlo
- Yaldiz Burcu
- Yaou Rabah Ben
- Zaharieva Irina
- Zurek Birte
- ’t Hoen Peter A. C.
- Publication venue
- Eur J Hum Genet
- Publication date
- 01/01/2021
- Field of study
Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics
Agricultural uses of plant biostimulants
- Author
- A Albuzio
- A Aydin
- A Basak
- A Cohen
- A Ertani
- A Ertani
- A Ertani
- A González
- A Grabowska
- A Hartmann
- A Hussain
- A Khalid
- A Khaliq
- A Kirn
- A Koukounararas
- A Liu
- A Marulanda
- A Muscolo
- A Peng
- A Piccolo
- A Piccolo
- A Piccolo
- A Piccolo
- A Piccolo
- A Richardson
- A Sarfaraz
- A Sharma
- A Sánchez-Sánchez
- A Sánchez-Sánchez
- A Vespermann
- A Vivas
- AA Belimov
- AAM Mazhar
- AC García
- AC García
- AG Khan
- AH Goldstein
- AJ Miller
- AJ Simpson
- AM García-Martínez
- AM Kinnersley
- AO Adesemoye
- AO Adesemoye
- ARL Moghaddam
- AU Krajnc
- B Ali
- B Eyheraguibel
- B Giri
- B Gügi
- B Hamaoui
- B Kemmerling
- B Lucia De
- B Shaharoona
- B Singh
- BG Forde
- BJ Shelp
- BP Kelleher
- BR Glick
- BR Glick
- BS Rauthan
- C Chang
- C Chinnadurai
- C Contesto
- C Dalmastri
- C Feller
- C Hu
- C Leyval
- C-C Wu
- C-M Ryu
- CE Clapp
- CEW Steinberg
- CH Chang
- CJ Grandlic
- CM Creus
- D Blaha
- D Egamberdiyeva
- D Fan
- DA Nabati
- DB Zandonadi
- DD Hong
- DD Hong
- E Aguirre
- E Gamalero
- E Kannapiran
- E Kunicki
- E Yildrim
- EE Idris
- EE Idriss
- EM Casanovas
- EM Selim
- ER Tarakhovskaya
- F Adani
- F Apone
- F Bastián
- F Bi
- F Pérez-Alfocea
- F Sahin
- F Spinelli
- FB Abeles
- FJ Gutiérrez-Mañero
- FJ Stevenson
- FM Padilla
- FN Verkleij
- G Berg
- G Blunden
- G Costa
- G Feng
- G Jakab
- G Krouk
- G Kumar
- G Marino
- GC Tao
- GI Burd
- GL Kauffman III
- GL Kauffman III
- H Antoun
- H Asp
- H Bae
- H Evelin
- H Karlidag
- H Rodriguez
- H Rodríguez
- H Rodríguez
- H Rodríguez
- H Shang
- H Tsukagoshi
- HS Chae
- HS Han
- I Jakobsen
- I Jeannin
- I Kuiper
- IC Dodd
- IC Dodd
- IC Dodd
- IE García de Salamone
- IEG Garcia de Salamone
- IJ Crouch
- IJ Crouch
- IJ Crouch
- IL Pan
- IMA Rocha da
- J Castro
- J Döbereiner
- J Einset
- J Einset
- J Gajc-Wolska
- J Kohler
- J Krasensky
- J Mayer
- J Norrie
- J Parrado
- J Vera
- JA Rice
- JB Neilands
- JC Lobartini
- JC Stiegler
- JC Tarafdar
- JCG Esteves da Silva
- JE MacDonald
- JI Baldani
- JI Querejeta
- JK Vessey
- JM Barea
- JM Murillo
- Joseph W. Kloepper
- JP Morales-Payan
- JP Pimentel
- JP Thompson
- JR Freitas de
- JR Quilty
- JS Craigie
- JW Kloepper
- JWT Frankenberger
- K Jindo
- K Kpomblekou
- K Kuwada
- KA Malik
- KH Park
- KM Cimrin
- L Castaings
- L Cavani
- L Corte
- L Jannin
- L Jannin
- L Kerkeb
- L Zimmerli
- L-E Rioux
- L-E Rioux
- LB Dobbss
- LB Dobbss
- LE De-Bashan
- LE De-Bashan
- LE De-Bashan
- Louise Nelson
- LP Canellas
- LP Canellas
- LP Canellas
- LP Canellas
- LP Singh
- M Arshad
- M Ashraf
- M Bacilio
- M Canbolat
- M Fayez
- M Fulchieri
- M Honma
- M Park
- M Saleem
- M Schiavon
- M Schiavon
- M Shahid
- M Sheng
- M Slávik
- M Yazdani
- M Zancani
- MA El-Nemr
- MA Malboobi
- MC Brundrett
- MC Brundrett
- MC Thaller
- MD Lulakis
- MH Aminifard
- MI Saubidet
- MK Wilson
- MLE Reed
- MLE Reed
- MM Tahir
- MN Jithesh
- MNA Omar
- MP Bocanegra
- MP Cordovilla
- MR Banerjee
- MR Befrozfar
- MZ Alam
- N Baniaghil
- N Bouché
- N Mrkovacki
- N Suzuki
- NGA Aziz
- O Barazani
- O Klarzynski
- O Sytar
- OSD Wally
- P Calvo
- P Carletti
- P Gyaneshwar
- P Maini
- P Morard
- P Nacry
- P Nair
- P Parmar
- P Piccoli
- P Rayirath
- P Rayorath
- P Vernieri
- P Walch-Liu
- P Walch-Liu
- PA Poapst
- Pamela Calvo
- PF Schweiger
- PJ Kramer
- PJ Lea
- PJ Riggs
- PN Bhattacharyya
- Q Zhang
- R Ahmad
- R Aloni
- R Hayat
- R Kaushik
- R Kumari
- R Lamar
- R Ortíz-Castro
- R Pinton
- R Pinton
- R Porcel
- R Sutton
- R Watson
- RE Sharp
- RF Milton
- RL Dunstone
- RLL Berbara
- RM Augé
- RM Boddey
- RM Boddey
- RM Boddey
- RMN Kucey
- S Asli
- S Döbbelaere
- S Friedrich
- S Furuya
- S Mancuso
- S Mayak
- S Mehnaz
- S Mugnai
- S Nardi
- S Nardi
- S Nardi
- S Nardi
- S Nardi
- S Nardi
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- S Remans
- S Rungin
- S Sivasankari
- S Spaepen
- S Spaepen
- S Trevisan
- S Trevisan
- S Zaidi
- SA Anjum
- SA Anjum
- SB Pandeya
- SC Wu
- SE Smith
- SG Dastager
- SHS Sharma
- SHS Shekhar
- SM Harper
- SP Reis dos
- SS Rathore
- SS Sharma
- ST Zodape
- ST Zodape
- SW Mattner
- T Hirayama
- T Huang
- T Lola-Luz
- T Soldal
- TB Hurek
- THH Chen
- THH Chen
- TN Arkhipova
- TN Arkhipova
- U Krämer
- V Chouliaras
- V Gupta
- V Mora
- V Vranova
- VC Verma
- VLD Baldani
- W Khan
- W Khan
- W Khan
- W Khan
- WA Stirk
- WGD Fernando
- WH Mohamed
- X Fan
- X Xudan
- X Zhang
- X Zhang
- X Zhang
- X Zhuang
- XF Sheng
- XW Liang
- Y Bashan
- Y Bashan
- Y Bashan
- Y Bashan
- Y Chen
- Y Karakurt
- Y Ma
- Y Ma
- Y-C Kim
- YV Temirov
- Z Gu
- Z Varanini
- ZA Zahir
- ZH Khan
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
- Author
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Beeson David
- Beijer Danique
- Beltran Sergi
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bonne Gisèle
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Brunner Han G.
- Bullich Gemma
- Capella Gabriel
- Carneiro Fátima
- Castello Raffaele
- Ciolfi Andrea
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Cruz Pedro M. Rodriguez
- Dallapiccola Bruno
- Danis Daniel
- Davoine Claire-Sophie
- de Benito Daniel Natera
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- de la Rosa F. Javier Alonso García
- de Voer Richarda M.
- de Voer Richarda M.
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Dizjikan Farid Yavari
- Drunat Séverine
- Duffourd Yannis
- Durr Alexandra
- Ellwanger Kornelia
- Ellwanger Kornelia
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Garcia Carles
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Graessner Holm
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias B.
- Hackman Peter
- Hanauer Marc
- Hanna Mike
- Harmuth Tina
- Havlovicová Markéta
- Havrylenko Svitlana
- Heinzmann Anna
- Hengel Holger
- Hernández Carles
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Holinski-Feder Elke
- Hoogerbrugge Nicoline
- Horvath Rita
- Houlden Henry
- Izem Katia
- Jackson Adam
- Janssen Erik
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Erik-Jan
- Keane Thomas
- Kessler Christoph
- Kleefstra Tjitske
- Kremlik Vlastimil
- Kremliková Radka Pourová
- Köhler Sebastian
- Lagorce David
- Laner Andreas
- Laurie Steven
- Laurie Steven
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Macaya Alfons
- Macek Milan
- Marcé-Grau Anna
- Martín Estrella López
- Matalonga Leslie
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- Mehtarizadeh Mehdi
- Metay Corinne
- Metcalfe Alison
- Molnar Maria Judit
- Morleo Manuela
- Muntoni Francesco
- Musacchia Francesco
- Münchau Alexander
- Neerincx Pieter B.
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Olry Annie
- Osorio Andres Nascimiento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Paramonov Ida
- Parkinson Helen
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peters Sophia
- Peyron Christine
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Pélissier Aurore
- Radio Francesca Clementina
- Rath Ana
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rigour Fanny
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rooryck Caroline
- Rossi Rachele
- Rump Andreas
- Sablauskas Karolis
- Sarkozy Anna
- Savarese Marco
- Scheffer Hans
- Schröck Evelin
- Schulze-Hentrich Julia M.
- Schöls Ludger
- Schüle Rebecca
- Selvatici Rita
- Senf Alexander
- Shorter Thomas
- Sommer Anna Katharina
- Spalding Dylan
- Specht Sabine
- Spier Isabel
- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Sturm Marc
- Swertz Morris
- Swertz Morris A.
- Synofzik Matthis
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Tisserant Emilie
- Torella Annalaura
- Traschütz Andreas
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Os Nienke
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verloes Alain
- Verloes Alain
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Vitobello Antonio
- Wadsley Marc
- Warren Greg
- Wayand Melanie
- Wilke Carlo
- Yaldiz Burcu
- Yaou Rabah Ben
- Zaharieva Irina
- Zurek Birte
- Zurek Birte
- ’t Hoen Peter A. C.
- Publication venue
- Eur J Hum Genet
- Publication date
- 01/01/2021
- Field of study
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
- Author
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balicza Peter
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Beeson David
- Beltran Sergi
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bevot Andrea
- Bonne Gisèle
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Capella Gabriel
- Carneiro Fátima
- Castello Raffaele
- Chinnery Patrick
- Ciolfi Andrea
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Cruz Pedro M. Rodriguez
- Dallapiccola Bruno
- Danis Daniel
- Davoine Claire-Sophie
- de Benito Daniel Natera
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- de la Rosa F. Javier Alonso García
- de Voer Richarda M.
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Dizjikan Farid Yavari
- Drunat Séverine
- Duffourd Yannis
- Durr Alexandra
- Dürr Alexandra
- Ellwanger Kornelia
- Erasmus Corrie E.
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Garcia Carles
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Graessner Holm
- Graessner Holm
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias
- Hackman Peter
- Hanauer Marc
- Hanna Mike
- Havlovicová Markéta
- Havrylenko Svitlana
- Heinzmann Anna
- Hengel Holger
- Hernández Carles
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Holinski-Feder Elke
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houlden Henry
- Houlden Henry
- Izem Katia
- Jackson Adam
- Janssen Erik
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Christoph
- Kamsteeg Erik-Jan
- Keane Thomas
- Kleefstra Tjitske
- Kremlik Vlastimil
- Kremliková Radka Pourová
- Köhler Sebastian
- Lagorce David
- Laner Andreas
- Laurie Steven
- Laurie Steven
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Lohmann Katja
- Macaya Alfons
- Macaya Alfons
- Macek Milan
- Marcé-Grau Anna
- Marcé-Grau Anna
- Martín Estrella López
- Matalonga Leslie
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- Maver Ales
- Mehtarizadeh Mehdi
- Metay Corinne
- Metcalfe Alison
- Molnar Judit
- Molnar Maria Judit
- Morleo Manuela
- Muntoni Francesco
- Musacchia Francesco
- Münchau Alexander
- Münchau Alexander
- Neerincx Pieter B.
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Olry Annie
- Osorio Andres Nascimiento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Paramonov Ida
- Parkinson Helen
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peterlin Borut
- Peters Sophia
- Peyron Christine
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Pélissier Aurore
- Radio Francesca Clementina
- Rath Ana
- Reichbauer Jennifer
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rigour Fanny
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rooryck Caroline
- Rossi Rachele
- Rump Andreas
- Sablauskas Karolis
- Sarkozy Anna
- Savarese Marco
- Scheffer Hans
- Schröck Evelin
- Schulze-Hentrich Julia M.
- Schöls Ludger
- Schöls Ludger
- Schüle Rebecca
- Schüle Rebecca
- Selvatici Rita
- Senf Alexander
- Shorter Thomas
- Sommer Anna Katharina
- Spalding Dylan
- Specht Sabine
- Spier Isabel
- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Synofzik Matthis
- Sánchez Eva Bermejo
- Tartaglia Marco
- Thauvin Christel
- Thomasová Dana
- Thompson Rachel
- Timmann Dagmar
- Timmerman Vincent
- Tisserant Emilie
- Torella Annalaura
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Valle Laura
- van de Warrenburg Bart
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verloes Alain
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Wadsley Marc
- Warren Greg
- Wayand Melanie
- Wayand Melanie
- Wilke Carlo
- Wilke Carlo
- Yaldiz Burcu
- Yaou Rabah Ben
- Zaharieva Irina
- Zuchner Stephan
- Zurek Birte
- ’t Hoen Peter A. C.
- Publication venue
- Eur J Hum Genet
- Publication date
- 01/01/2021
- Field of study
Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
- Author
- Abbott Kristin M.
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bijlsma Emilia K.
- Bonne Gisèle
- Bourbouli Mara
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Cali Elisa
- Capella Gabriel
- Carneiro Fátima
- Carpancea Evelina
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Colobran Roger
- consortium Solve-R. D.
- Cordts Isabelle
- Corominas Galbany Jordi
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Dallapiccola Bruno
- Danis Daniel
- Davoine Claire-Sophie
- de Benito Daniel Natera
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- de la Rosa F. Javier Alonso García
- De Ridder Willem
- de Sainte Agathe Jean-Madeleine
- de Voer Richarda M.
- de Vries Geert
- De Winter Jonathan
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Dizjikan Farid Yavari
- Doležalová Pavla
- Drunat Séverine
- Duerinckx Sarah
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Fallerini Chiara
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Frederikse Wilhemina Skerstjens
- Freeberg Mallory
- Furini Simone
- Gao Fei
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Gilissen Christian
- Graessner Holm
- Grimbacher Bodo
- Gualandi Francesca
- Guerrini Renzo
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hampstead Juliet
- Hanauer Marc
- Hanna Mike
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández Carles
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoen Peter A. C. T
- Hoffer Mariette J. V.
- Hofste Tom
- Hoischen Alexander
- Hoischen Alexander
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Houlden Henry
- Iacomino Michele
- Jackson Adam
- Janssen Erik
- Jarava Clara Franco
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kessler Christoph
- Kleefstra Tjitske
- Kokosali Evgenia
- Kremliková Radka Pourová
- Kucuk Erdi
- Köhler Sebastian
- Lacombe Didier
- Lagorce David
- Lambros Mathioudakis
- Laner Andreas
- Laurie Steven
- Lebreton Emeline
- Lederer Damien
- Lerche Holger
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Macaya Alfons
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Martín Estrella López
- Mary Sandrine
- Masó Laura Batlle
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molnar Maria Judit
- Morleo Manuela
- Morsy Heba
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- Münchau Alexander
- Neerincx Pieter B.
- Nelen Marcel
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Paramonov Ida
- Parkinson Helen
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peters Sophia
- Peyron Christine
- Pfundt Rolph
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Poppe Bruce
- Pélissier Aurore
- Pérez-Dueñas Belén
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rinne Tuula
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Roos Andreas
- Rossi Rachele
- Ruivenkamp Claudia A. L.
- Rump Andreas
- Ruvolo David
- Sablauskas Karolis
- Santen Gijs W. E.
- Sarkozy Anna
- Savarese Marco
- Scala Marcello
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schöls Ludger
- Schüle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thomas Coline
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Traschütz Andreas
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- van Os Nienke
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Vetro Annalisa
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wilke Carlo
- Xu Jishu
- Yaldiz Burcu
- Yaldiz Burcu
- Yaou Rabah Ben
- Yntema Helger G.
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2023
- Field of study
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
- Abbott Kristin M.
- Abbott Kristin M.
- Afenjar Alexandra
- Agathe Jean-Madeleine de Sainte
- Agathe Jean-Madeleine de Sainte
- Albuisson Juliette
- Alembik Yves
- Alessandri Jean-Luc
- Alexander Elizabeth
- Allamand Valérie
- Alonso García de la Rosa F. Javier
- Amiel Jeanne
- Amram Daniel
- Aretz Stefan
- Atalaia Antonio
- Attie-Bitach Tania
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Banka Siddharth
- Banka Siddharth
- Baujat Geneviève
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Bellanger Séverine Audebert
- Beltran Sergi
- Ben Yaou Rabah
- Benetti Elisa
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bitoun Pierre
- Bizaoui Varoona
- Blesson Sophie
- Boer Elke de
- Bongers Ernie
- Bonne Gisèle
- Bonnet-Dupeyron Marie Noëlle
- Bonniaud Bertille
- Bourbouli Mara
- Bournez Marie
- Boute Odile
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Busa Tiffany
- Cali Elisa
- Capella Gabriel
- Capri Yline
- Carneiro Fátima
- Carpancea Evelina
- Cartault François
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chassaing Nicolas
- Chiaverini Christine
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Ciolfi Andrea
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Cohen Enzo
- Colin Estelle
- Colobran Roger
- Colson Cindy
- Cordier-Alex Marie-Pierre
- Cordts Isabell
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Coubes Christine
- Cusin Véronica
- Dallapiccola Bruno
- Dallapiccola Bruno
- Dallapiccola Bruno
- Danis Daniel
- Danis Daniel
- Davoine Claire-Sophie
- de Boer Elke
- de Boer Elke
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- De Ridder Willem
- de Voer Richarda M.
- de Vries Bert B.A.
- de Vries Geert
- De Winter Jonathan
- Delanne Julian
- Delgado Beatriz Martínez
- Demeer Bénédicte
- Demidov German
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Desplantes Claire
- Diene Gwenaëlle
- Dieux-Coeslier Anne
- Dizjikan Farid Yavari
- Doco-Fenzy Martine
- Doležalová Pavla
- Doray Bérénice
- Drouin-Garraud Valérie
- Drunat Séverine
- Duerinckx Sarah
- Duffourd Yannis
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- El Chehadeh Salima
- Ellwanger Kornelia
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Faivre Laurence
- Faivre Laurence
- Fallerini Chiara
- Fallerini Chiara
- Fargeot Anne
- Feillet François
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Fradin Mélanie
- Francannet Christine
- Franková Vera
- Freeberg Mallory
- Furini Simone
- Gaillard Dominique
- Gao Fei
- Gao Fei
- Garrido Luzia
- Geneviève David
- Gibson Spencer
- Gilbert-Dussardier Brigitte
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Giuliano Fabienne
- Goizet Cyril
- Goldenberg Alice
- Graessner Holm
- Graessner Holm
- Grimbacher Bodo
- Grotto Sarah
- Gualandi Francesca
- Guerrini Renzo
- Guerrot Anne-Marie
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Gérard-Blanluet Marion
- Haack Tobias B.
- Haack Tobias B.
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hanauer Marc
- Hanna Mike
- Hanna Nadine
- Havlovicova Marketa
- Havlovicova Marketa
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández Carles
- Heron Delphine
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Hoischen Alexander
- Hoischen Alexander
- Holder-Espinasse Muriel H.
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houcinat Nada
- Houlden Henry
- Iacomino Michele
- Isidor Bertrand
- Jackson Adam
- Jackson Adam
- Jackson Adam
- Jacquemin Emmanuel
- Jacquemont Marie-Line
- Janssen Erik
- Jarava Clara Franco
- Jean-Marçais Nolwenn
- Johanson Lennart
- Johansson Lennart
- Johari Mridul
- Johari Mridul
- José Celina São
- Jouk Pierre-Simon
- Jouret Béatrice
- Journel Hubert
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kerstjens Frederikse Wilhemina S.
- Kerstjens Mieke
- Kessler Christoph
- Kilic Esra
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kokosali Evgenia
- Kremliková Radka Pourová
- Köhler Sebastian
- Lacaze Elodie
- Lacombe Didier
- Lacombe Didier
- Laffargue Fanny
- Lagorce David
- Lambert Laëtitia
- Lambros Mathioudakis
- Laner Andreas
- Laudier Béatrice
- Laurie Steven
- Layet Valérie
- Lebreton Emeline
- Lederer Damien
- Lederer Damien
- Lehalle Daphné
- Leheup Bruno
- Leperrier Nathalie
- Lerche Holger
- Lespinasse James
- Li Shuang
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Lyonnet Stanislas
- López-Martín Estrella
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Marlin Sandrine
- Martinovic Jelena
- Martín Estrella López
- Martín Estrella López
- Mary Sandrine
- Masurel Alice
- Masó Laura Batlle
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Mathieu Michèle
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Maystadt Isabelle
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Mencarelli Maria Antonietta
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molin Arnaud
- Molnar Maria Judit
- Morice-Picard Fanny
- Morin Gilles
- Morleo Manuela
- Morleo Manuela
- Morsy Heba
- Morsy Heba
- Moutton Sébastien
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- Münchau Alexander
- Nambot Sophie
- Natera de Benito Daniel
- Naudion Sophie
- Neerincx Pieter B.
- Neiva Cecilia
- Nelson Isabelle
- Nelson Isabelle
- Neri Marcella
- Nigro Vicenzo
- Nigro Vincenzo
- Odent Sylvie
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Ousager Lilian Bomme
- Papakonstantinou Anastasios
- Paramonov Ida
- Paramonov Ida
- Parent Philippe
- Parkinson Helen
- Paske Iris te
- Passemard Sandrine
- Patch Christine
- Paul Carle
- Pauly Martje
- Pelaez Jose Garcia
- Perrin Laurence
- Perthus Isabelle
- Peterlin Borut
- Peters Sophia
- Petit Florence
- Peyron Christine
- Pfundt Rolph
- Phan Alice
- Philip Nicole
- Philippe Christophe
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Pinelli Michele
- Pinson Lucile
- Piscia Davide
- Pizzi Simone
- Pizzi Simone
- Pizzi Simone
- Poirsier Céline
- Polavarapu Kiran
- Poppe Bruce
- Posada Manuel
- Posada Manuel
- Prieur Fabienne
- Putoux Audrey
- Pélissier Aurore
- Pérez-Dueñas Belén
- Quélin Chloé
- Radio Francesca C.
- Radio Francesca Clementina
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renaud Mathilde
- Renieri Alessandra
- Renieri Alessandra
- Renieri Alessandra
- Reversade Bruno
- Riaz Umar
- Riess Olaf
- Riess Olaf
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Rooryck Caroline
- Rooryck Caroline
- Roos Andreas
- Rossi Massimiliano
- Rossi Rachele
- Ruaud Lyse
- Ruivenkamp Claudia A.L.
- Rump Andreas
- Ruvolo David
- Ryba Lukas
- Ryba Lukas
- Sablauskas Karolis
- Safraou Hana
- Samimi Mahtab
- Sanlaville Damien
- Santen Gijs W.E.
- Sarda Pierre
- Sarkozy Anna
- Sarrazin Elisabeth
- Savarese Marco
- Savarese Marco
- Scala Marcello
- Schaefer Élise
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schwarz Martin
- Schwarz Martin
- Schöls Ludger
- Schüle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Sorlin Arthur
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Spodenkiewicz Marta
- Steehouwer Marloes
- Steichen Elisabeth
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- Sánchez Eva Bermejo
- Tartaglia Marco
- Tartaglia Marco
- Tartaglia Marco
- te Paske Iris B.A.W.
- Thauvin Christel
- Thauvin Christel
- Thauvin-Robinet Christel
- Thevenon Julien
- Thomas Coline
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Torella Annalaura
- Touraine Renaud
- Toutain Annick
- Tran Mau-Them Frédéric
- Traschütz Andreas
- Trimouille Aurelien
- Trimouille Aurélien
- Trimouille Aurélien
- Trimouille Aurélien
- Turnovec Marek
- Töpf Ana
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Vabres Pierre
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- Van Kien Philippe Khau
- Van Maldergem Lionel
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Verloes Alain
- Verloes Alain
- Vetro Annalisa
- Vincent Marie
- Vincent-Delorme Catherine
- Vissers Lisenka
- Vissers Lisenka E.L.M.
- Vissers Lisenka E.L.M.
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Votypka Pavel
- Votypka Pavel
- W.E Gijs
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wells Constance
- Whalen Sandra
- Wilke Carlo
- Willems Marjolaine
- Willemsen Marjolein H.
- Xu Jishu
- Yaldiz Burcu
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zguro Kristina
- Zivi Einat
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Zurek Birte
- ‘t Hoen Peter A.C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2023
- Field of study
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
ATLAS Run 1 searches for direct pair production of third-generation squarks at the Large Hadron Collider
- Author
- Abbott Brad
- Abdallah Jalal
- Abdinov Ovsat
- Aben Rosemarie
- Abolins Maris
- AbouZeid Ossama
- Abramowicz Halina
- Abreu Henso
- Abreu Ricardo
- Abulaiti Yiming
- Acharya Bobby Sami
- Adamczyk Leszek
- Adams David
- Adelman Jahred
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- Affolder Tony
- Agatonovic-Jovin Tatjana
- Agricola Johannes
- Aguilar-Saavedra Juan Anton
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- Ahmadov Faig
- Aielli Giulio
- Akerstedt Henrik
- Akimov Andrei
- Alberghi Gian Luigi
- Albert Justin
- Albrand Solveig
- Alconada Verzini Maria Jose
- Aleksa Martin
- Aleksandrov Igor
- Alexa Calin
- Alexander Gideon
- Alexopoulos Theodoros
- Alhroob Muhammad
- Alimonti Gianluca
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- Allbrooke Benedict
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- Roda Chiara
- Roe Shaun
- Rolli Simona
- Romaniouk Anatoli
- Romano Saez Silvestre
- Romano Marino
- Romero Adam Elena
- Rompotis Nikolaos
- Ronzani Manfredi
- Roos Lydia
- Ros Eduardo
- Rosati Stefano
- Rosbach Kilian
- Rose Peyton
- Rosendahl Peter Lund
- Rosenthal Oliver
- Rossetti Valerio
- Rossi Elvira
- Rossi Leonardo P
- Rosten Rachel
- Rotaru Marina
- Roth Itamar
- Rothberg Joseph
- Rousseau David
- Royon Christophe
- Rozanov Alexandre
- Rozen Yoram
- Ruan Xifeng
- Rubbo Francesco
- Rubinskiy Igor
- Rud Viacheslav
- Rudolph Christian
- Rudolph Matthew Sc
- Ruiz-Martinez Aranzazu
- Rurikova Zuzana
- Rusakovich Nikolai
- Ruschke Alexander
- Russell Heather
- Rutherfoord John
- Ruthmann Nils
- Ryabov Yury
- Rybar Martin
- Rybkin Grigori
- Ryder Nick
- Røhne Ole
- Rühr Frederik
- Saavedra Aldo
- Sabato Gabriele
- Sacerdoti Sabrina
- Saddique Asif
- Sadrozinski Hartmut
- Sadykov Renat
- Safai Tehrani Francesco
- Saimpert Matthias
- Saito Tomoyuki
- Sakamoto Hiroshi
- Sakurai Yuki
- Salamanna Giuseppe
- Salamon Andrea
- Saleem Muhammad
- Salek David
- Sales De Bruin Pedro Henr
- Salihagic Denis
- Salnikov Andrei
- Salt José
- Salvatore Daniela
- Salvatore Pasquale F
- Salvucci Antonio
- Salzburger Andreas
- Sammel Dirk
- Sampsonidis Dimitrios
- Sanchez Martinez Victoria
- Sanchez Arturo
- Sandaker Heidi
- Sandbach Ruth Laura
- Sander Heinz Geor
- Sanders Michiel
- Sandhoff Marisa
- Sandoval Carlos
- Sandstroem Rikard
- Sankey Dave
- Sannino Mario
- Sansoni Andrea
- Santiago Cerqueira Augusto
- Santoni Claudio
- Santonico Rinaldo
- Santos Helena
- Santoyo Castillo Itzebelt
- Sapp Kevin
- Sapronov Andrey
- Saraiva João
- Sarrazin Bjorn
- Sasaki Osamu
- Sasaki Yuichi
- Sato Koji
- Sauvage Gilles
- Sauvan Emmanuel
- Savage Graham
- Savard Pierre
- Sawyer Craig
- Sawyer Lee
- Saxon James
- Sbarra Carla
- Sbrizzi Antonio
- Scanlon Tim
- Scannicchio Diana
- Scarcella Mark
- Scarfone Valerio
- Schaarschmidt Jana
- Schacht Peter
- Schaefer Douglas
- Schaefer Ralph
- Schaeffer Jan
- Schaepe Steffen
- Schaetzel Sebastian
- Schaffer Arthur
- Schaile Dorothee
- Schamberger R Dean
- Scharf Veit
- Schegelsky Valery
- Scheirich Daniel
- Schernau Michael
- Schiavi Carlo
- Schillo Christian
- Schioppa Marco
- Schlenker Stefan
- Schmidt Evelyn
- Schmieden Kristof
- Schmitt Christian
- Schmitt Sebastian
- Schmitt Stefan
- Schneider Basil
- Schnellbach Yan Jie
- Schnoor Ulrike
- Schoeffel Laurent
- Schoening Andre
- Schoenrock Bradley Da
- Schopf Elisabeth
- Schorlemmer Andre Luka
- Schott Matthias
- Schouten Doug
- Schovancova Jaroslava
- Schramm Steven
- Schreyer Manuel
- Schroeder Christian
- Schuh Natascha
- Schultens Martin Joh
- Schultz-Coulon Hans-Chris
- Schulz Holger
- Schumacher Markus
- Schumm Bruce
- Schune Philippe
- Schwanenberger Christian
- Schwartzman Ariel
- Schwarz Thomas And
- Schwegler Philipp
- Schweiger Hansdieter
- Schwemling Philippe
- Schwienhorst Reinhard
- Schwindling Jerome
- Schwindt Thomas
- Schäfer Uli
- Sciacca Gianfranco
- Scifo Estelle
- Sciolla Gabriella
- Scuri Fabrizio
- Scutti Federico
- Searcy Jacob
- Sedov George
- Sedykh Evgeny
- Seema Pienpen
- Seidel Sally
- Seiden Abraham
- Seifert Frank
- Seixas José
- Sekhniaidze Givi
- Sekhon Karishma
- Sekula Stephen
- Seliverstov Dmitry
- Semprini-Cesari Nicola
- Serfon Cedric
- Serin Laurent
- Serkin Leonid
- Serre Thomas
- Sessa Marco
- Seuster Rolf
- Severini Horst
- Sfiligoj Tina
- Sforza Federico
- Sfyrla Anna
- Shabalina Elizaveta
- Shamim Mansoora
- Shan Lianyou
- Shang Ruo-yu
- Shank James
- Shapiro Marjorie
- Shatalov Pavel
- Shaw Kate
- Shaw Savanna Ma
- Shcherbakova Anna
- Shehu Ciwake Yus
- Sherwood Peter
- Shi Liaoshan
- Shimizu Shima
- Shimmin Chase Owen
- Shimojima Makoto
- Shiyakova Mariya
- Shmeleva Alevtina
- Shoaleh Saadi Diane
- Shochet Mel
- Shojaii Seyedruhol
- Shrestha Suyog
- Shulga Evgeny
- Shupe Michael
- Shushkevich Stanislav
- Sicho Petr
- Sidebo Per Edvin
- Sidiropoulou Ourania
- Sidorov Dmitri
- Sidoti Antonio
- Siegert Frank
- Sijacki Djordje
- Silva José
- Silver Yiftah
- Silverstein Samuel
- Simak Vladislav
- Simard Olivier
- Simic Ljiljana
- Simion Stefan
- Simioni Eduard
- Simmons Brinick
- Simon Dorian
- Simoniello Rosa
- Sinervo Pekka
- Sinev Nikolai
- Sioli Maximilian
- Siragusa Giovanni
- Sisakyan Alexei
- Sivoklokov Serguei
- Sjursen Therese
- Sjölin Jörgen
- Skinner Malcolm Br
- Skottowe Hugh Phili
- Skubic Patrick
- Slater Mark
- Slavicek Tomas
- Slawinska Magdalena
- Sliwa Krzysztof
- Smakhtin Vladimir
- Smart Ben
- Smestad Lillian
- Smirnov Sergei
- Smirnov Yury
- Smirnova Lidia
- Smirnova Oxana
- Smith Matthew
- Smith Russell
- Smizanska Maria
- Smolek Karel
- Snesarev Andrei
- Snidero Giacomo
- Snyder Scott
- Sobie Randall
- Socher Felix
- Soffer Abner
- Soh Dart-yin
- Solans Carlos
- Solar Michael
- Solc Jaroslav
- Soldatov Evgeny
- Soldevila Urmila
- Solodkov Alexander
- Soloshenko Alexei
- Solovyanov Oleg
- Solovyev Victor
- Sommer Philip
- Song Hong Ye
- Soni Nitesh
- Sood Alexander
- Sopczak Andre
- Sopko Bruno
- Sopko Vit
- Sorin Veronica
- Sosa David
- Sosebee Mark
- Sotiropoulou Calliope L
- Soualah Rachik
- Soukharev Andrey
- South David
- Sowden Benjamin
- Spagnolo Stefania
- Spalla Margherita
- Spanò Francesco
- Spearman William Ro
- Sperlich Dennis
- Spettel Fabian
- Spighi Roberto
- Spigo Giancarlo
- Spiller Laurence A
- Spousta Martin
- Spreitzer Teresa
- St Denis Richard Da
- Staerz Steffen
- Stahlman Jonathan
- Stamen Rainer
- Stamm Soren
- Stanecka Ewa
- Stanescu Cristian
- Stanescu-Bellu Madalina
- Stanitzki Marcel Mic
- Stapnes Steinar
- Starchenko Evgeny
- Stark Jan
- Staroba Pavel
- Starovoitov Pavel
- Staszewski Rafal
- Stavina Pavel
- Steinberg Peter
- Stelzer Bernd
- Stelzer Harald Joe
- Stelzer-Chilton Oliver
- Stenzel Hasko
- Stewart Graeme
- Stillings Jan Andre
- Stockton Mark
- Stoebe Michael
- Stoicea Gabriel
- Stolte Philipp
- Stonjek Stefan
- Stradling Alden
- Straessner Arno
- Stramaglia Maria Elen
- Strandberg Jonas
- Strandberg Sara
- Strandlie Are
- Strauss Emanuel
- Strauss Michael
- Strizenec Pavol
- Strom David
- Stroynowski Ryszard
- Strubig Antonia
- Ströhmer Raimund
- Stucci Stefania A
- Stugu Bjarne
- Styles Nicholas A
- Su Dong
- Su Jun
- Subramaniam Rajivaloch
- Succurro Antonella
- Sugaya Yorihito
- Suhr Chad
- Suk Michal
- Sulin Vladimir
- Sultansoy Saleh
- Sumida Toshi
- Sun Siyuan
- Sun Xiaohu
- Sundermann Jan Erik
- Suruliz Kerim
- Susinno Giancarlo
- Sutton Mark
- Suzuki Shota
- Svatos Michal
- Swedish Stephen
- Swiatlowski Maximilian
- Sykora Ivan
- Sykora Tomas
- Sánchez Javier
- Ta Duc
- Taccini Cecilia
- Tackmann Kerstin
- Taenzer Joe
- Taffard Anyes
- Tafirout Reda
- Taiblum Nimrod
- Takai Helio
- Takashima Ryuichi
- Takeda Hiroshi
- Takeshita Tohru
- Takubo Yosuke
- Talby Mossadek
- Talyshev Alexey
- Tam Jason
- Tan Kong Guan
- Tanaka Junichi
- Tanaka Reisaburo
- Tanaka Shuji
- Tannenwald Benjamin B
- Tannoury Nancy
- Tapprogge Stefan
- Tarem Shlomit
- Tarrade Fabien
- Tartarelli Giuseppe F
- Tas Petr
- Tasevsky Marek
- Tashiro Takuya
- Tassi Enrico
- Tavares Delgado Ademar
- Tayalati Yahya
- Taylor Frank
- Taylor Geoffrey
- Taylor Wendy
- Teischinger Florian Al
- Teixeira Dias Castanheira Matilde
- Teixeira-Dias Pedro
- Temming Kim Katrin
- Ten Kate Herman
- Teng Ping-Kun
- Teoh Jia Jian
- Tepel Fabian-Phi
- Terada Susumu
- Terashi Koji
- Terron Juan
- Terzo Stefano
- Testa Marianna
- Teuscher Richard
- Theveneaux-Pelzer Timothée
- Thomas Juergen
- Thomas-Wilsker Joshuha
- Thompson Emily
- Thompson Paul
- Thompson Ray
- Thompson Stan
- Thomsen Lotte Ansg
- Thomson Evelyn
- Thomson Mark
- Thun Rudolf
- Tibbetts Mark James
- Ticse Torres Royer Edso
- Tikhomirov Vladimir
- Tikhonov Yury
- Timoshenko Sergey
- Tiouchichine Elodie
- Tipton Paul
- Tisserant Sylvain
- Todome Kazuki
- Todorov Theodore
- Todorova-Nova Sharka
- Tojo Junji
- Tokushuku Katsuo
- Tokár Stanislav
- Tollefson Kirsten
- Tolley Emma
- Tomlinson Lee
- Tomoto Makoto
- Tompkins Lauren
- Toms Konstantin
- Torrence Eric
- Torres Heberth
- Torró Pastor Emma
- Toth Jozsef
- Touchard Francois
- Tovey Daniel
- Trefzger Thomas
- Tremblet Louis
- Tricoli Alessandro
- Trigger Isabel Mar
- Trincaz-Duvoid Sophie
- Tripiana Martin
- Trischuk William
- Trocmé Benjamin
- Troncon Clara
- Trottier-McDonald Michel
- Trovatelli Monica
- True Patrick
- Truong Loan
- Trzebinski Maciej
- Trzupek Adam
- Tsarouchas Charilaos
- Tseng Jeffrey
- Tsiareshka Pavel
- Tsionou Dimitra
- Tsipolitis Georgios
- Tsirintanis Nikolaos
- Tsiskaridze Shota
- Tsiskaridze Vakhtang
- Tskhadadze Edisher
- Tsukerman Ilya
- Tsulaia Vakhtang
- Tsuno Soshi
- Tsybychev Dmitri
- Tudorache Alexandra
- Tudorache Valentina
- Tuna Alexander
- Tupputi Salvatore
- Turchikhin Semen
- Turecek Daniel
- Turra Ruggero
- Turvey Andrew Joh
- Tuts Michael
- Tykhonov Andrii
- Tylmad Maja
- Tyndel Mike
- Ueda Ikuo
- Ueno Ryuichi
- Ughetto Michael
- Ugland Maren
- Uhlenbrock Mathias
- Ukegawa Fumihiko
- Unal Guillaume
- Undrus Alexander
- Unel Gokhan
- Ungaro Francesca
- Unno Yoshinobu
- Unverdorben Christophe
- Urban Jozef
- Urquijo Phillip
- Urrejola Pedro
- Usai Giulio
- Usanova Anna
- Vacavant Laurent
- Vacek Vaclav
- Vachon Brigitte
- Valderanis Chrysostom
- Valencic Nika
- Valentinetti Sara
- Valero Alberto
- Valery Loic
- Valkar Stefan
- Valladolid Gallego Eva
- Vallecorsa Sofia
- Valls Ferrer Juan Anton
- Van Den Wollenberg Wouter
- Van Der Deijl Pieter
- van der Geer Rogier
- van der Graaf Harry
- Van Der Leeuw Robin
- van Eldik Niels
- van Gemmeren Peter
- Van Nieuwkoop Jacobus
- van Vulpen Ivo
- van Woerden Marius Cor
- Vanadia Marco
- Vandelli Wainer
- Vanguri Rami
- Vaniachine Alexandre
- Vannucci Francois
- Vardanyan Gagik
- Vari Riccardo
- Varnes Erich
- Varol Tulin
- Varouchas Dimitris
- Vartapetian Armen
- Varvell Kevin
- Vazeille Francois
- Vazquez Schroeder Tamara
- Veatch Jason
- Veloce Laurelle M
- Veloso Filipe
- Velz Thomas
- Veneziano Stefano
- Ventura Andrea
- Ventura Daniel
- Venturi Manuela
- Venturi Nicola
- Venturini Alessio
- Vercesi Valerio
- Verducci Monica
- Verkerke Wouter
- Vermeulen Jos
- Vest Anja
- Vetterli Michel
- Viazlo Oleksandr
- Vichou Irene
- Vickey Boeriu Oana Elena
- Vickey Trevor
- Viehhauser Georg
- Viel Simon
- Vigne Ralph
- Villa Mauro
- Villaplana Perez Miguel
- Vilucchi Elisabetta
- Vincter Manuella
- Vinogradov Vladimir
- Vivarelli Iacopo
- Vives Vaque Francesc
- Vlachos Sotirios
- Vladoiu Dan
- Vlasak Michal
- Vogel Marcelo
- Vokac Petr
- Volpi Guido
- Volpi Matteo
- von der Schmitt Hans
- von Radziewski Holger
- von Toerne Eckhard
- Vorobel Vit
- Vorobev Konstantin
- Vos Marcel
- Voss Rudiger
- Vossebeld Joost
- Vranjes Milosavljevic Marija
- Vranjes Nenad
- Vrba Vaclav
- Vreeswijk Marcel
- Vuillermet Raphael
- Vukotic Ilija
- Vykydal Zdenek
- Wagner Peter
- Wagner Wolfgang
- Wahlberg Hernan
- Wahrmund Sebastian
- Wakabayashi Jun
- Walder James
- Walker Rodney
- Walkowiak Wolfgang
- Wang Chao
- Wang Fuquan
- Wang Haichen
- Wang Hulin
- Wang Jike
- Wang Jin
- Wang Kuhan
- Wang Rui
- Wang Song-Ming
- Wang Tan
- Wang Tingting
- Wang Xiaoxiao
- Wanotayaroj Chaowaroj
- Warburton Andreas
- Ward Patricia
- Wardrope David Robe
- Warsinsky Markus
- Washbrook Andrew
- Wasicki Christoph
- Watkins Peter
- Watson Alan
- Watson Ian
- Watson Miriam
- Watts Gordon
- Watts Stephen
- Waugh Ben
- Webb Samuel
- Weber Michele
- Weber Stefan Wol
- Webster Jordan S
- Weidberg Anthony
- Weinert Benjamin
- Weingarten Jens
- Weiser Christian
- Weits Hartger
- Wells Phillippa
- Wenaus Torre
- Wengler Thorsten
- Wenig Siegfried
- Wermes Norbert
- Werner Matthias
- Werner Per
- Wessels Martin
- Wetter Jeffrey
- Whalen Kathleen
- Wharton Andrew Mar
- White Andrew
- White Martin
- White Ryan
- White Sebastian
- Whiteson Daniel
- Wickens Fred
- Wiedenmann Werner
- Wielers Monika
- Wienemann Peter
- Wiglesworth Craig
- Wiik-Fuchs Liv Antje
- Wildauer Andreas
- Wilkens Henric Geo
- Williams Hugh
- Williams Sarah
- Willis Christophe
- Willocq Stephane
- Wilson Alan
- Wilson John
- Wingerter-Seez Isabelle
- Winklmeier Frank
- Winter Benedict T
- Wittgen Matthias
- Wittkowski Josephine
- Wollstadt Simon Jako
- Wolter Marcin Wla
- Wolters Helmut
- Wosiek Barbara
- Wotschack Jorg
- Woudstra Martin
- Wozniak Krzysztof
- Wu Mengqing
- Wu Miles
- Wu Sau Lan
- Wu Xin
- Wu Yusheng
- Wyatt Terry Rich
- Wynne Benjamin
- Xella Stefania
- Xu Da
- Xu Lailin
- Yabsley Bruce
- Yacoob Sahal
- Yakabe Ryota
- Yamada Miho
- Yamaguchi Yohei
- Yamamoto Akira
- Yamamoto Shimpei
- Yamanaka Takashi
- Yamauchi Katsuya
- Yamazaki Yuji
- Yan Zhen
- Yang Haijun
- Yang Hongtao
- Yang Yi
- Yao Weiming
- Yasu Yoshiji
- Yatsenko Elena
- Yau Wong Kaven Henr
- Ye Jingbo
- Ye Shuwei
- Yeletskikh Ivan
- Yen Andy L
- Yildirim Eda
- Yorita Kohei
- Yoshida Rikutaro
- Yoshihara Keisuke
- Young Charles
- Young Christophe
- Youssef Saul
- Yu David Ren-
- Yu Jaehoon
- Yu Jiaming
- Yu Jie
- Yuan Li
- Yuen Stephanie
- Yurkewicz Adam
- Yusuff Imran
- Zabinski Bartlomiej
- Zaidan Remi
- Zaitsev Alexander
- Zalieckas Justas
- Zaman Aungshuman
- Zambito Stefano
- Zanello Lucia
- Zanzi Daniele
- Zeitnitz Christian
- Zeman Martin
- Zemla Andrzej
- Zengel Keith
- Zenin Oleg
- Zerwas Dirk
- Zhang Dongliang
- Zhang Fangzhou
- Zhang Huijun
- Zhang Jinlong
- Zhang Lei
- Zhang Ruiqi
- Zhang Xueyao
- Zhang Zhiqing
- Zhao Xiandong
- Zhao Yongke
- Zhao Zhengguo
- Zhemchugov Alexey
- Zhong Jiahang
- Zhou Bing
- Zhou Chen
- Zhou Lei
- Zhou Li
- Zhou Ning
- Zhu Cheng Guan
- Zhu Hongbo
- Zhu Junjie
- Zhu Yingchun
- Zhuang Xuai
- Zhukov Konstantin
- Zibell Andre
- Zieminska Daria
- Zimine Nikolai
- Zimmermann Christoph
- Zimmermann Stephanie
- Zinonos Zinonas
- Zinser Markus
- Ziolkowski Michael
- Zobernig Georg
- Zoccoli Antonio
- zur Nedden Martin
- Zurzolo Giovanni
- Zwalinski Lukasz
- Åkesson Torsten Pa
- Åsman Barbro
- Ženiš Tibor
- Živković Lidija
- Άlvarez Piqueras Damián
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 29/10/2015
- Field of study
- …