7 research outputs found
Recurrence After Liver Resection of Colorectal Liver Metastases: Repeat Resection or Ablation Followed by Hepatic Arterial Infusion Pump Chemotherapy
- Author
- Balachandran V.P. (Vinod P.)
- Boerner T. (Thomas)
- Buisman F.E. (Florian)
- Drebin J.A. (Jeffrey A.)
- D’Angelica M.I. (Michael I.)
- Filipe W.F. (Wills F.)
- Grunhagen D.J. (Dirk Jan)
- Jarnagin W.R. (William R.)
- Kemeny N.E. (Nancy E.)
- Kingham T.P. (T. Peter)
- Koerkamp B.G. (Bas Groot)
- Narayan R.R. (Raja R.)
- Srouji R.M. (Rami M.)
- Verhoef C. (Kees)
- Wei A.C. (Alice C.)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 09/07/2020
- Field of study
Background: The aim of this study was to investigate the effectiveness of adjuvant hepatic arterial infusion pump (HAIP) chemotherapy after complete resection or ablation of recurrent colorectal liver metastases (CRLM). Methods: A retrospective cohort study was conducted of patients from two centers who were treated with resection and/or ablation of recurrent CRLM only between 1992 and 2018. Overall survival (OS) and hepatic disease-free survival (hDFS) were estimated using the Kaplan–Meier method. The Cox regression method was used to calculate hazard ratios (HRs) with corresponding 95% confidence intervals (CI). Results: Of 374 eligible patients, 81 (22%) were treated with adjuvant HAIP chemotherapy. The median follow-up for survivors was 65 months (IQR 32–118 months). Patients receiving adjuvant HAIP were more likely to have multifocal disease and receive perioperative systemic chemotherapy at time of resection for recurrence. A median hDFS of 46 months (95% CI 29–81 months) was found in patients treated with adjuvant HAIP compared with 18 months (95% CI 15–26 months) in patients treated with resection and/or ablation alone (p = 0.001). The median OS and 5-year OS were 89 months (95% CI 52–126 months) and 66%, respectively, in patients treated with adjuvant HAIP compared with 57 months (95% CI 47–67 months) and 47%, respectively, in patients treated with resection and/or ablation only (p = 0.002). Adjuvant HAIP was associated with superior hDFS (adjusted HR 0.599, 95% CI 0.38–0.93, p = 0.02) and OS (adjusted HR 0.59, 95% CI 0.38–0.92, p = 0.02) in multivariable analysis. Conclusion: Adjuvant HAIP chemotherapy after resection and/or ablation of recurrent CRLM is associated with superior hDFS and OS
Data from a pre-publication independent replication initiative examining ten moral judgement effects
- Author
- Amell A. (Alice)
- Anderson T. (Tabitha)
- Awtrey E. (Eli)
- Bauman C.W. (Christopher W.)
- Bedwell W.L. (Wendy L.)
- Bivolaru E. (Eliza)
- Brescoll V. (Victoria)
- Canavan A. (Andrew)
- Chandler J. (Jesse)
- Cheries E. (Erik)
- Cheryan S. (Sapna)
- Cheung F. (Felix)
- Cimpian A. (Andrei)
- Clark M.A. (Mark A.)
- Cordon D. (Diana)
- Cushman F. (Fiery)
- Dana J. (Jason)
- Darroux S.-C. (Sophie-Charlotte)
- Davis-Stober C.P. (Clintin P.)
- Diermeier D. (Daniel)
- Ditto P.H. (Peter H.)
- Du Plessis C. (Christilene)
- Frick S.E. (Sarah E.)
- Gamez-Djokic M. (Monica)
- Grady R.H. (Rebecca Hofstein)
- Graham J. (Jesse)
- Gronau Q.F. (Quentin F.)
- Gu J. (Jun)
- Hafenbrack A.C. (Andrew C.)
- Hahn A. (Adam)
- Hanson B.E. (Brittany E.)
- Hartwich N.J. (Nicole J.)
- Hein K. (Kristie)
- Heinze J.E. (Justin E.)
- Inbar Y. (Yoel)
- Jiang L. (Lily)
- Jordan J. (Jennifer)
- Kellogg T. (Tehlyr)
- Kennedy D.M. (Deanna M.)
- Legate N. (Nicole)
- Liao E.Y. (Eko Yi)
- Luoma T.P. (Timo P.)
- Ly A. (Alexander)
- Madan N. (Nikhil)
- Maibeucher H. (Heidi)
- Marsman M. (Maarten)
- Meindl P. (Peter)
- Miles J. (Jennifer)
- Mislin A. (Alexandra)
- Molden D.C. (Daniel C.)
- Motyl M. (Matt)
- Murase T. (Toshio)
- Newman G. (George)
- Ngo H.H. (Hoai Huong)
- Packham H. (Harvey)
- Qureshi I. (Israr)
- Ramsay P.S. (P. Scott)
- Ray J.L. (Jennifer L.)
- Sackett A.M. (Aaron M.)
- Schaerer M. (Michael)
- Schweinsberg M. (Martin)
- Sellier A.-L. (Anne-Laure)
- Sokolova T. (Tatiana)
- Sommer S.A. (S. Amy)
- Sowden W. (Walter)
- Srinivasan M. (Malavika)
- Storage D. (Daniel)
- Sun X. (Xiaomin)
- Tannenbaum D. (David)
- Thornley N. (Nico)
- Tierney W. (Warren)
- Tworek C.M. (Christina M.)
- Uhlmann E.L. (Eric Luis)
- Van Bavel J.J. (Jay J.)
- Vianello M. (Michelangelo)
- Wagenmakers E.J. (Eric-Jan)
- Washburn A.N. (Anthony N.)
- Wei C. (Cong)
- Wetter E. (Erik)
- Wilson C.T. (Carlos T.)
- Wong L. (Lynn)
- Zhu L.L. (Luke Lei)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 11/10/2016
- Field of study
We present the data from a crowdsourced project seeking to replicate findings in independent laboratories before (rather than after) they are published. In this Pre-Publication Independent Replication (PPIR) initiative, 25 research groups attempted to replicate 10 moral judgment effects from a single laboratory's research pipeline of unpublished findings. The 10 effects were investigated using online/lab surveys containing psychological manipulations (vignettes) followed by questionnaires. Results revealed a mix of reliable, unreliable, and culturally moderated findings. Unlike any previous replication project, this dataset includes the data from not only the replications but also from the original studies, creating a unique corpus that researchers can use to better understand reproducibility and irreproducibility in science
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- Author
- Adenis C. (Claude)
- Aittomäki K. (Kristiina)
- Andrulis I.L. (Irene)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis)
- Arndt V. (Volker)
- Arun B.K. (Banu)
- Arver B. (Brita Wasteson)
- Asperen C.J. (Christi) van
- Ausems M.G.E.M. (Margreet)
- Bandera E.V. (Elisa)
- Barile M. (Monica)
- Barjhoux L. (Laure)
- Barkardottir R.B. (Rosa B.)
- Barouk-Simonet E. (Emmanuelle)
- Barrowdale D. (Daniel)
- Barwell J. (Julian)
- Baurand A. (Amandine)
- Beckmann M.W. (Matthias)
- Beesley J. (Jonathan)
- Belotti M. (Muriel)
- Benítez J. (Javier)
- Berchuck A. (Andrew)
- Berthet P. (Pascaline)
- Bertolone G. (Geoffrey)
- Bignon Y.-J. (Yves-Jean)
- Birot A.-M. (Anne-Marie)
- Bisogna M. (Maria)
- Bjorge L. (Line)
- Blomqvist C. (Carl)
- Blot W.J. (William)
- Bock G.H. (Geertruida) de
- Bogdanova N.V. (Natalia)
- Bojesen A. (Anders)
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet K.)
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
- Bonnet F. (Françoise)
- Borresen-Dale A.-L. (Anne-Lise)
- Bourdon V. (Violaine)
- Boutry-Kryza N. (N.)
- Bowtell D. (David)
- Brady A. (A.)
- Brauch H. (Hiltrud)
- Brennan P. (Paul)
- Brenner H. (Hermann)
- Bressac-de Paillerets B. (Brigitte)
- Bronner M. (Myriam)
- Bruinsma F. (Fiona)
- Brunet J. (Joan)
- Bubien V. (Virginie)
- Buecher B. (Bruno)
- Buhari S.A.B.S. (Shaik Ahmad Bin Syed)
- Burwinkel B. (Barbara)
- Butzow R. (Ralf)
- Buys S.S. (Saundra)
- Bézieau S. (Stéphane)
- Cai Q. (Qiuyin)
- Caldes T. (Trinidad)
- Calender A. (Alain)
- Campbell I. (Ian)
- Canniotto R. (Rikki)
- Caron O. (Olivier)
- Castera L. (Laurent)
- Chang-Claude J. (Jenny)
- Chenevix-Trench G. (Georgia)
- Chiquette J. (Jocelyne)
- Choi J.-Y. (Ji-Yeob)
- Claes K.B.M. (Kathleen B.M.)
- Colas C. (Chrystelle)
- Collonge-Rame M.-A.
- Collée J.M. (Margriet)
- Cook J. (Jackie)
- Cook L.S. (Linda S.)
- Coron F. (Fanny)
- Couch F.J. (Fergus)
- Coulet F. (Florence)
- Coupier I. (Isabelle)
- Cox A. (Angela)
- Cramer D.W. (Daniel)
- Cronenburg T.C.T.E.F. van
- Cross S.S. (Simon)
- Cybulski C. (Cezary)
- Czene K. (Kamila)
- Daly M.B. (Mary B.)
- Damette A. (Alexandre)
- Damiola F. (Francesca)
- Dansonka-Mieszkowska A. (Agnieszka)
- Darabi H. (Hatef)
- De Leeneer K. (Kim)
- DeFazio A. (Anna)
- Delgado M.K. (Melissa K.)
- Delnatte C.D. (Capucine)
- Dennis J. (Joe)
- Deurzen C.H.M. (Carolien) van
- Devilee P. (Peter)
- Doherty J.A. (Jennifer A.)
- Domchek S.M. (Susan)
- Donaldson A. (Alan)
- Dorfling C.M. (Cecilia)
- Dreyfus H. (Hélène)
- Dumont M. (Martine)
- Dunning A.M. (Alison)
- Díez O. (Orland)
- Dörk T. (Thilo)
- Eason J. (Jacqueline)
- Easton D.F. (Douglas F.)
- Edwards S.L. (Stacey)
- Ehrencrona H. (Hans)
- Ejlertsen B. (Bent)
- Elan C. (Camille)
- Ellis S.D. (Steve)
- Engel C. (Christoph)
- Evans D.G. (D. Gareth)
- Faivre L. (Laurence)
- Fasching P.A. (Peter)
- Feillel V. (Viviane)
- Feliubadaló L. (L.)
- Ferrer S.F.
- Figueroa J.D. (Jonine)
- Flesch-Janys D. (Dieter)
- Fletcher O. (Olivia)
- Flyger H. (Henrik)
- Foo C. (Claire)
- Foretova L. (Lenka)
- Fostira F. (Florentia)
- Foulkes W.D. (William)
- Fourme E. (Emmanuelle)
- Fournier J. (Joëlle)
- Fox S.B. (Stephen)
- Freedman M. (Matthew)
- French J.D. (Juliet)
- Fricker J.P. (Jean Pierre)
- Fridley B.L. (Brooke)
- Friedman E. (Eitan)
- Frost D. (Debra)
- Gambino G. (Gaetana)
- Ganz P.A. (Patricia A.)
- Garber J. (Judy)
- García-Closas M. (Montserrat)
- Gauthier-Villars M. (Marion)
- Gayther S.A. (Simon)
- Gentry-Maharaj A. (Aleksandra)
- Ghoussaini M. (Maya)
- Giles G.G. (Graham)
- Giraud S. (Sophie)
- Gladieff L. (Laurence)
- Glasspool R. (Rosalind)
- Godwin A.K. (Andrew K.)
- Goldberg M.S. (Mark)
- Goldgar D. (David)
- Golmard L. (Lisa)
- González-Neira A. (Anna)
- Goode E.L. (Ellen)
- Goodman M.T. (Marc)
- Greene M.H. (Mark H.)
- Gregory H. (Helen)
- Gronwald J. (Jacek)
- Guillaud-Bataille M. (Marine)
- Guimbaud R. (Rosine)
- Guénel P. (Pascal)
- Gómez García E.B. (Encarna)
- Haiman C.A. (Christopher A.)
- Hall P. (Per)
- Hallberg E. (Emily)
- Hamann U. (Ute)
- Hansen T.V.O. (Thomas)
- harrington P. (Patricia)
- Hartman J.M. (Joost)
- Hassan N. (Norhashimah)
- Healey S. (Sue)
- Heitz P.U.
- Henderson A. (Alex)
- Herzog J. (Josef)
- Hogervorst F.B.L. (Frans)
- Hollestelle A. (Antoinette)
- Hooning M.J. (Maartje)
- Hopper J.L. (John)
- Houdayer C. (Claude)
- Hoya M. (Miguel) de La
- Hulick P.J. (Peter)
- Huzarski T. (Tomasz)
- Høgdall C.K. (Claus)
- Høgdall E. (Estrid)
- Imyanitov E.N. (Evgeny)
- Isaacs C. (Claudine)
- Ito H. (Hidemi)
- Jacquot C. (Caroline)
- Jakubowska A. (Anna)
- Janavicius R. (Ramunas)
- Jensen A. (Allan)
- John E.M. (Esther)
- Johnson N. (Nichola)
- Kabisch M. (Maria)
- Kang D. (Daehee)
- Kapuscinski M.K. (Miroslav K.)
- Kar S. (Siddhartha)
- Karlan B.Y. (Beth Y.)
- Kennedy M.J. (John)
- Kets C.M. (Marleen)
- Khan S. (Sofia)
- Khanna K.K. (Kum Kum)
- Kiemeney L.A.L.M. (Bart)
- Kientz C. (Caroline)
- Kirk J. (Judy)
- Kjaer M. (Michael)
- Knight J.A. (Julia)
- Kolk L.E. (Lizet) van der
- Konstantopoulou I. (I.)
- Kosma V-M. (Veli-Matti)
- Kristensen V. (Vessela)
- Kuchenbaeker K. (Karoline)
- Kupryjanczyk J. (Jolanta)
- Kwong A. (Ava)
- Laitman Y. (Yael)
- Lalloo F. (Fiona)
- Lambrechts D. (Diether)
- Lange J.L. (J.) de
- Lasset C. (Christine)
- Laurent M. (Maïté)
- Lawrenson K. (Kate)
- Le Marchand L. (Loic)
- Le N.D. (Nhu D.)
- Lebrun M. (Marine)
- Lee E. (Eunjung)
- Lee J.M. (Janet M.)
- Leeuwen F.E. (Flora) van
- Leroux D. (Dominique)
- Lester K.J. (Kathryn)
- Lesueur F. (Fabienne)
- Levine D.A. (Douglas)
- Li J. (Jingmei)
- Li Q. (Qiyuan)
- Lindblom A. (Annika)
- Lindeman G.J. (Geoffrey)
- Lizard S. (Sarab)
- Long J. (Jirong)
- Longy M. (Michel)
- Lophatananon A. (Artitaya)
- Loud J.T. (Jennifer)
- Lu K.H. (Karen)
- Lubinski J. (Jan)
- Léone M. (Mélanie)
- Mannermaa A. (Arto)
- Manoukian S. (Siranoush)
- Margolin S. (Sara)
- Mari V. (Véronique)
- Marme F. (Frederick)
- Massuger L.F. (Leon)
- Matsuo K. (Keitaro)
- Mazoyer S. (Sylvie)
- McCann E. (Emma)
- McCue K. (Karen)
- McGuffog L. (Lesley)
- McLean C.A. (Catriona Ann)
- McNeish I. (Iain)
- Mebirouk N. (Noura)
- Meijers-Heijboer E.J. (Hanne)
- Meindl A. (Alfons)
- Menon U. (Usha)
- Mensenkamp A.R. (Arjen R.)
- Michailidou K. (Kyriaki)
- Miedzybrodzka Z. (Zosia)
- Milne R.L. (Roger)
- Moncoutier V. (Virginie)
- Montagna M. (Marco)
- Monteiro A.N.A. (Alvaro N.)
- Morrison P.J. (Patrick)
- Mortemousque I. (Isabelle)
- Mourits M.J. (Marjan)
- Moysich K.B. (Kirsten)
- Muir K.R. (K.)
- Muller D.W. (Danièle)
- Mulligan A.-M. (Anna-Marie)
- Murray A. (Alexandra)
- Nathanson K.L. (Katherine)
- Ness R.B. (Roberta)
- Neuhausen S.L. (Susan)
- Nevanlinna H. (Heli)
- Noguchi T. (Tetsuro)
- Nord S. (Silje)
- Nussbaum R.L. (Robert L.)
- O'Malley D.M. (David M.)
- Obdeijn A.I.M. (Inge-Marie)
- Odunsi K. (Kunle)
- Offit K. (Kenneth)
- Olah E.
- Olopade O.I. (Olufunmilayo I.)
- Olson J.E. (Janet)
- Olswold C. (Curtis)
- Oosterwijk J.C. (Jan)
- Orlow I. (Irene)
- Orr N. (Nick)
- Os T.A.M. (Theo) van
- Osorio A. (Ana)
- Overbeek L.I.H. (Lucy)
- Park S.K. (Sue Kyung)
- Pauw A. (Antoine) de
- Pearce C.L. (Celeste)
- Pejovic T. (Tanja)
- Peterlongo P. (Paolo)
- Peyrat J.-P.
- Peysselon M. (Magalie)
- Pfeiler G. (Georg)
- Pharoah P.D.P. (Paul)
- Phelan C. (Catherine)
- Pol C. (Carmen) van der
- Poole E.M. (Elizabeth)
- Porteous M.E. (Mary)
- Price M. (Melanie)
- Prieur F. (Fabienne)
- Pujol P. (Pascal)
- Pykäs K. (Katri)
- Radice P. (Paolo)
- Ramus S.J. (Susan)
- Rantala J. (Johanna)
- Rashid M.U. (Muhammad)
- Rebischung C. (Christine)
- Remenieras A. (Audrey)
- Rennert G. (Gad)
- Rensburg E.J. (Elizabeth) van
- Rhenius V. (Valerie)
- Rhiem K. (Kerstin)
- Risch H. (Harvey)
- Rodriguez G.C. (Gustavo)
- Rogers M.T. (Mark)
- Rookus M.A. (Matti)
- Rossing M.A. (Mary Anne)
- Rouleau E. (Etienne)
- Rudolph A. (Anja)
- Russell N.S. (Nicola)
- Révillion F. (Françoise)
- Salvesen H.B. (Helga)
- Sangrajrang S. (Suleeporn)
- Saule C. (Claire)
- Sawyer E.J. (Elinor J.)
- Schildkraut J.M. (Joellen)
- Schmidt M.K. (Marjanka)
- Schmidt M.K. (Marjanka)
- Schmutzler R.K. (Rita)
- Sellers T.A. (Thomas A.)
- Sevenet N. (Nicolas)
- Seynaeve C.
- Seynaeve C.M. (Caroline)
- Shah M. (Mitul)
- Shen C.-Y. (Chen-Yang)
- Shu X.-O. (Xiao-Ou)
- Side L. (Lucy)
- Sieh W. (Weiva)
- Siesling S.
- Simard J. (Jacques)
- Singer C.F. (Christian)
- Sinilnikova O. (Olga)
- Slager S. (Susan)
- Snape K. (Katie)
- Sobol H. (Hagay)
- Sokolowska J. (Johanna)
- Song H. (Honglin)
- Soubrier F.
- Soucy P. (Penny)
- Southey M.C. (Melissa)
- Stenmark-Askmalm M. (Marie)
- Stoppa-Lyonnet D. (Dominique)
- Sutter C. (Christian)
- Swerdlow A.J. (Anthony )
- Tchatchou S. (Sandrine)
- Teixeira P.J.
- Teo S.-H. (Soo-Hwang)
- Terry K.L. (Kathryn)
- Terry M.B. (Mary Beth)
- Thomassen M. (Mads)
- Tibiletti M.G. (Maria Grazia)
- Tihomirova L. (Laima)
- Tognazzo S. (Silvia)
- Toland A.E. (Amanda)
- Tollenaar R.A.E.M. (Rob)
- Tomlinson I.P. (Ian)
- Torres D. (Diana)
- Toulas C. (Christine)
- Truong T. (Thérèse)
- Tseng C.-C. (Chiu-Chen)
- Tung N. (Nadine)
- Tworoger S.S. (Shelley S.)
- Tyrer J.P. (Jonathan)
- Uhrhammer N. (Nancy)
- Vachon C. (Celine)
- Van Den Ouweland A.M.W. (Ans M.W.)
- Van Doorn H.C. (Helena C.)
- Vanderstichele A. (Adriaan)
- Vasen H. (Hans)
- Vaur D. (Dominique)
- Veer L.J. (Laura) van 't
- Vergote I. (Ignace)
- Verloop J.
- Verny-Pierre C. (Carole)
- Vijai J. (Joseph)
- Vénat-Bouvet L. (Laurence)
- Waisfisz Q. (Quinten)
- Walker L.J. (Lisa)
- Wang Q. (Qin)
- Wang-Gohrke S. (Shan)
- Warcoin M. (Mathilde)
- Webb P. (Penny)
- Weitzel J.N. (Jeffrey)
- Wentzensen N. (N.)
- Whittemore A.S. (Alice)
- Wijnands R.
- Wildiers H. (Hans)
- Winqvist R. (Robert)
- Wu A.H. (Anna)
- Yannoukakos D. (Drakoulis)
- Yoon S.-Y. (Sook-Yee)
- Yu J-C. (Jyh-Cherng)
- Zheng W. (Wei)
- Zheng Y. (Ying)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 07/09/2016
- Field of study
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk
Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
- Author
- Abecasis G. (Gonçalo)
- Almgren P. (Peter)
- Amin N. (Najaf)
- Amouyel P. (Philippe)
- Arking D.E. (Dan)
- Attia J. (John)
- Ayers K.L. (Kristin)
- Barbieri C.M. (Caterina M.)
- Barnes M.J. (Michael)
- Batini C. (Chiara)
- Bis J.C. (Joshua)
- Blake T. (Tineka)
- Bochud M. (Murielle)
- Boehnke M. (Michael)
- Boerwinkle E. (Eric)
- Boomsma D.I. (Dorret I.)
- Bottinger E.P. (Erwin P.)
- Boutin T. (Thibaud)
- Braund P.S. (Peter)
- Brown M.J. (Morris)
- Brumat M. (Marco)
- Butterworth A.S. (Adam S.)
- Cabrera C.P. (Claudia P.)
- Campbell A. (Archie)
- Campbell H. (Harry)
- Caulfield M. (Mark)
- Chakravarti A. (Aravinda)
- Chambers J.C. (John C.)
- Chasman D.I. (Daniel)
- Chauhan G. (Ganesh)
- Cho K. (Kelly)
- Ciullo M. (Marina)
- Cocca M. (Massimiliano)
- Collins F. (Francis)
- Conen D. (David)
- Connell J. (John)
- Cordell H.J. (Heather)
- Cucca F. (Francesco)
- Danesh J. (John)
- Davies G. (Gail)
- de Borst M.H. (Martin H.)
- Deary I.J. (Ian)
- Debette S. (Stéphanie)
- Deelen J. (Joris)
- Del Greco M F. (Fabiola)
- Demirkale C.Y. (Cumhur Yusuf)
- Dimou N. (Niki)
- Ding J. (Jun)
- Doney A.S.F. (Alex)
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 14/11/2018
- Field of study
In the version of this article originally published, the name of author Martin H. de Borst was coded incorrectly in the XML.
The error has now been corrected in the HTML version of the paper
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
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- Agnarsson B.A. (Bjarni)
- Aittomäki K. (Kristiina)
- Andrulis I.L. (Irene)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis)
- Bandera E.V. (Elisa)
- Banerjee S. (Susana)
- Barile M. (Monica)
- Barrowdale D. (Daniel)
- Beckmann M.W. (Matthias)
- Beeghly-Fadiel A. (Alicia)
- Benítez J. (Javier)
- Berchuck A. (Andrew)
- Bjorge L. (Line)
- Blomqvist C. (Carl)
- Bogdanova N.V. (Natalia)
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet)
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- Borresen-Dale A.-L. (Anne-Lise)
- Brauch H. (Hiltrud)
- Brenner H. (Hermann)
- Broeks A. (Annegien)
- Bruinsma F. (Fiona)
- Brunet J. (Joan)
- Brüning T. (Thomas)
- Burwinkel B. (Barbara)
- Butterbach K. (Katja)
- Butzow R. (Ralf)
- Buys S.S. (Saundra)
- Cai H. (Hui)
- Campbell I. (Ian)
- Cannioto R. (Rikki)
- Castillo D. (Danielle)
- Chan S. (Salina)
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- Dennis J. (Joe)
- Devilee P. (Peter)
- Ding Y.C. (Yuan)
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- Van Maerken T. (Tom)
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- Whittermore A.S. (Alice S.)
- Winqvist R. (Robert)
- Woo Y.L. (Yin Ling)
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- Yoon S.-Y. (Sook-Yee)
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- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/02/2016
- Field of study
Background: The K3326X variant in BRCA2 (BRCA2∗c.9976A>T p.Lys3326∗rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormonerelated cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76637 cancer case patients and 83796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9×10-6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8×10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4×10-5 and ORw = 1.50, 95% CI = 1.28 t
Whole-genome sequencing reveals host factors underlying critical COVID-19
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- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdelrazik Marwa
- Abdollahi Hamed
- Abdullah T.
- Abecasis Goncalo
- Abedalthagafi M.
- Abel Lynn
- Abernathy C.
- Abraheem Azmeralde
- Abul-Husn Noura S.
- Acquilini D.
- Adams C.
- Adams Emma L.
- Adams K.
- Adamsara Alireza
- Adanini Olurenke
- Adeleye O.
- Adra D.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Agasou A.
- Agrawal Shruti
- Agüero D.
- Ahmad N.
- Ahmadi Saeideh
- Ahmed A.
- Ahmed Cecilia
- Akeroyd L.
- Akhtar M.N.
- Akinkugbe O.
- Aksentijevich Alexandra
- Al-Afghani H.
- Al-Awdah L.
- Alaamery M.
- Alahmadey Z.Z.
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- Alavere H.
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- Albrich W.
- AlDhawi N.
- Aldridge J.
- Aleagha Afshar Etemadi
- Alexander Peter.
- Alfonso J.
- Alghamdi B.
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- Ali A.
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- Ali Syamlan
- Aliannejad Rasoul
- Aljawini N.
- AlJohani S.
- Alkwai S.
- Allan A.
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- Alldis Zoe
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- Allen Schvearn
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- Allison K.S.
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- Andretta F.
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- Andrew Angela
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- Aravindan Latha
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- Armstrong Lisa
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- Arning N.
- Arnold Sophie
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- Arumugam Prabhu
- Ascolillo Steven
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- Publication venue
- Publication date
- 01/01/2022
- Field of study
Altres ajuts: Department of Health and Social Care (DHSC); Illumina; LifeArc; Medical Research Council (MRC); UKRI; Sepsis Research (the Fiona Elizabeth Agnew Trust); the Intensive Care Society, Wellcome Trust Senior Research Fellowship (223164/Z/21/Z); BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070, BBS/E/D/30002275); UKRI grants (MC_PC_20004, MC_PC_19025, MC_PC_1905, MRNO2995X/1); UK Research and Innovation (MC_PC_20029); the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z); the Edinburgh Clinical Academic Track (ECAT) programme; the National Institute for Health Research, the Wellcome Trust; the MRC; Cancer Research UK; the DHSC; NHS England; the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health (CTSA award number UL1TR001878); the Perelman School of Medicine at the University of Pennsylvania; National Institute on Aging (NIA U01AG009740); the National Institute on Aging (RC2 AG036495, RC4 AG039029); the Common Fund of the Office of the Director of the National Institutes of Health; NCI; NHGRI; NHLBI; NIDA; NIMH; NINDS.Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care or hospitalization after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer
- Author
- Abdi Ehtesham
- Abraham Jean
- Abreu Miguel
- Adams Sylvia
- Aktan G.
- Al Baghdadi Tareq
- Allerton Rozenn
- Allison Magnuson
- Altena Renske
- Alés Martínez Jose Enrique
- Anampa Mesias Jesus
- Andreopoulou Eleni
- Ansari Bilal
- Antill Yoland
- Aogi Kenjiro
- Aragones Antonia Marquez
- Arahmani A.
- Armstrong A.C.
- Armstrong Anne
- Armstrong Deborah
- Armstrong Deborah
- Arnedos M.
- Arrick Bradley
- Asaad Shonda
- Aydogdu Mustafa
- Baez-Diaz Luis
- Bahadur Shakeela
- Bakker Sandra
- Balmaña J.
- Barrett Sophie
- Bartsch Rupert
- Bañuelos Juan Cueva
- Bear Harry
- Bechtner Christina
- Bella Santiago
- Bergh J.
- Bermejo de las Heras Begoña
- Bernardo Antonio
- Bertrán Ana Santaballa
- Bianchini Giampaolo
- Biganzoli Laura
- Blajman Cesar
- Bliss J.
- Boadle David
- Bobolis Kristie
- Bonetti Andrea
- Bordeleau Louise
- Borges Virginia
- Borley Annabel
- Borms Marleen
- Borrego Manuel Ruiz
- Boyle L.E.
- Braga Sofia
- Brain Etienne
- Braybrooke Jeremy
- Brescia Frank
- Brufsky A.M.
- Brufsky Adam
- Bucci Eraldo
- Burhani Nafisa
- Busch Steffi
- Cameron D.
- Campbell C.
- Cannon George
- Cannon George
- Canon Jean-Luc
- Cao María González
- Cardoso Catarina
- Cardoso Fátima
- Carlson Jay
- Carlson Jay
- Carney Jennifer Fu
- Carrasco Fernando Henao
- Casa-Nova Mafalda
- Cescon Terrence
- Chacón López-Muñiz José Ignacio
- Chae Yee Soo
- Chakiba-Brugere Camille
- Chalchal Haji
- Chan Stephen
- Chang Brian
- Chang Yuan-Ching
- Charles William
- Chen Shang-Hung
- Chen Shin-Cheh
- Chen Shou-Tung
- Chiu Chang-Fang
- Cho Eun Kyung
- Chowdhury Nabila
- Chung Wei-Pang
- Ciccarese Mariangela
- Ciruelos Gil Eva María
- Cobleigh Melody
- Cole John
- Cole John
- Cole John
- Cole John
- Colleoni M.A.
- Colleoni Marco
- Company Jesús Alarcon
- Conejero Raquel Andrés
- Conibear John
- Constanzo Maria Victoria
- Conte Pierfranco
- Copson Ellen
- Copur Mehmet
- Cortesi Laura
- Cortijo Lucía González
- Cretella Elisabetta
- Cristofanilli Massimo
- Crusades Gema Llort
- Cui K.
- Curtit Elsa
- Dakhil Shaker
- Dakhil Shaker
- Dalivoust Philippe
- Darsow Maren
- Dayao Zoneddy
- de Boer Maaike
- de la Haba Juan
- de Laurentiis Michelino
- Decker Thomas
- Dedes Konstantin
- Delaloge S.
- Delaloge Suzette
- Delgado Mingorance Juan Ignacio
- Deming Richard
- Denittis Albert
- Deryal Mustafa
- Desbiens Christine
- Deveras Ruby Anne E.
- Dewar Joanna
- Dewitz Thomas
- Dieterich Max
- Domchek S.M.
- Domchek Susan
- Doster John
- Doyle Thomas
- Duhoux François
- Durna Lara
- Egle Daniel
- Einhorn Harvey
- Eisen A.
- Eisen Andrea
- Eisenberg Peter
- Ellis Robert
- Elsafy F.
- Emde Till-Oliver
- Erdkamp Franciscus
- Estevez Laura García
- Extra Jean-Marc
- Faller Bryan
- Fan Z.
- Fan Zhimin
- Fasching Peter
- Fehm Tanja
- Fein L.E.
- Fein Luis
- Ferrario Cristiano
- Ferrero Jean-Marc
- Feusner James
- Fielding A.
- Flaum Lisa
- Flynn Patrick
- Flynn Patrick
- Ford J.M.
- Forstmeyer Dirk
- Friday Bret E.B.
- Friedlander Michael
- Friedman S.
- Fu Peifen
- Fuchs David
- Ganz Patricia
- Garber J.E.
- Garber Judy
- Garber Judy
- García Sáenz José Ángel
- Gayle Arlene
- Gebbia Vittorio
- Gelber R.D.
- Gelmon K.A.
- Gelmon Karen
- Gelpi Judith Balmaña
- Geng Cuizhi
- George Mathew
- Gerds Aaron
- Geyer C.E.
- Giacchetti Sylvie
- Gianni L.
- Gianni Lorenzo
- Gil Amaryllis
- Gnant M.
- Gomez Elena Álvarez
- González-Santiago Santiago
- Goodwin Annabel
- Gori Stefania
- Grafe Andrea
- Graffunder Gerd
- Gratet Alain
- Greil Richard
- Grischke Eva Maria
- Gross Howard
- Gross Howard
- Gross Howard
- Gross Howard
- Gross Howard
- Gröll Isolde
- Göhring Uwe-Jochen
- Hackmann John
- Hahn Antje
- Hahn Olwen
- Hallbeck Anna-Lotta
- Hanson David
- Harbeck Nadia
- Hardy-Bessard Anne-Claire
- Harkness Cameron
- Haslbauer Ferdinand
- Hauke Ralph
- Hauke Ralph
- Hayward Richard
- Heibl Sonja
- Heijns Joan
- Heinrich Bernhard
- Helfgott Ruth
- Herbolsheimer Pia
- Hesse Tobias
- Hickish Tamas
- Hilton Christie
- Hoffmann Oliver
- Hofstatter Erin
- Hofstatter Erin
- Hofstatter Erin
- Hollingsworth S.J.
- Hoskins Kent
- Hou Ming-Feng
- Huang Chiun-Sheng
- Huober Jens
- Hurwitz Jane
- Huynh Chanh
- Huzarski Tomasz
- Höffkes Heinz-Gert
- Im S.-A.
- Im Seock-Ah
- Isaacs Claudine
- Ishida Kazushige
- Ito Mitsuya
- Iwata Hiroji
- Jackisch Christian
- Jacot William
- Jager A.
- Jager Agnes
- Janni W.
- Jañez Noelia Martínez
- Jegannathen Apurna
- Jens-Uwe Blohmer Jan Schröder
- Jerusalem Guy
- Jiang Zefei
- Jiménez Miguel Martín
- Johannsson Oskar
- Jones Catherine
- Jones Cheryl
- Joris Sofie
- Joshi Abhishek
- Jubelirer Steven
- Julian Thomas
- Jung K.H.
- Jung Kyung Hae
- Jurado Josefina Cruz
- Jóhannsson Ó. Þ
- Kaen Diego
- Kalinka Ewa
- Kalra Maitri
- Kannourakis George
- Karwal Mark
- Kast Karin
- Kaufman B.
- Kaufman Bella
- Kelleher Muireann
- Khosla Pam
- Kim Jee Hyun
- Kinoshita Takayuki
- Klare Peter
- Kolberg Hans-Christian
- Korde L.
- Krabisch Petra
- Kroep Judith
- Kurian Sobha
- Kuzma Charles
- Kühn Thorsten
- Kümmel Sherko
- Kümmel Sherko
- l'Haridon Tiffenn
- Lakhani S.R.
- Lambiase Elyse
- Landherr László
- Lanza Angels Arcusa
- Lazzaro Mauricio Fernández
- Ledwon Peter
- Lee Keun Seok
- Lee Kyoung Eun
- Lerzo Guillermo
- Lescure Álvaro Rodríguez
- Leu Kirsten M.H.
- Levine Edward
- Levitt Nicola
- Liao Ning
- Linderholm B.
- Linderholm Barbro
- Liu T.-W.
- Lo Shelly
- Loibl S.
- Loman N.
- Loman Niklas
- Lortholary Alain
- Lu Min
- Lu Min
- Lucas P.C.
- Luce Sylvie
- Lévy Christelle
- López Isabel Álvarez
- Mackey John
- Mackiewicz Jacek
- Mahtani Reshma
- Mahtani Reshma
- Mailliez A.
- Mailliez Audrey
- Mansoor Abdul
- Marcom Paul
- Marmé F.
- Martinez de Dueñas E.
- Martinez Lourdes Calvo
- Martínez de Dueñas Eduardo
- Masuda Norikazu
- Mau Christine
- Mccarron Edward
- Mccarthy Nicole
- Mcconnell R.
- Mege Alice
- Meisel Jane
- Menter Alex
- Merkel Douglas
- Mita Monica
- Molins Agusti Barnadas
- Mosconi Anna Maria
- Mouret-Reynier Marie-Ange
- Mukai Hirofumi
- Murillo Serafín Morales
- Murray Nicholas
- Müller Volkmar
- Nagy T.
- Nagy Tünde
- Nakamura Rikiya
- Nakamura Seigo
- Nakayama Takahiro
- Nangia Julie
- Naoi Yasuto
- Nave Mónica
- Neven Patrick
- Niraula Saroj
- Noeding Stefanie
- Noesselt Thomas
- Novak Urban
- Nowecki Zbigniew
- O'Connor Brian
- Ochoa Augusto
- Ochoa Augusto
- Ofori Samuel
- Olabisi Foluso
- Oliff Ira
- Openshaw Thomas
- Openshaw Thomas
- Openshaw Thomas
- Ortega Adela Fernández
- Ortega Ana Laura
- Osaki Akihiko
- Padró Josep Gumà
- Paepke Stefan
- Pang D.
- Pang Da
- Papadimitriou Konstantinos
- Park Y.H.
- Park Yeon Hee
- Park-Simon Tjoung-Won
- Parton M.
- Parton Marina
- Pasterk Claudia
- Patel Tejal
- Patocskai Erica
- Penzinger Monika
- Perren Timothy
- Perrin Christophe
- Petit Thierry
- Phillips K.-A.
- Phillips Kelly-Anne
- Piccart M.
- Pilnik Norma
- Pinotti Graziella
- Polikoff Jonathan
- Polikoff Jonathan
- Polikoff Jonathan
- Polikoff Jonathan
- Polikoff Jonathan
- Polikoff Jonathan
- Potenberg Jochem
- Pottier Virginie
- Prady Catherine
- Pristauz-Telsnigg Gunda
- Puthillath Ajithkumar
- Qamar Rubina
- Qamar Rubina
- Qamar Rubina
- Qamar Rubina
- Quaghebeur Claire
- Quiroga Vanesa
- Raben Adam
- Radford James
- Rai Yoshiaki
- Ramaswamy Bhuvaneswari
- Rastogi P.
- Rautenberg Beate
- Razaq W.
- Razaq Wajeeha
- Rea Daniel
- Reeder Jennifer
- Rhiem Kerstin
- Riseberg David
- Robin Erwin
- Rodríguez César
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- Rom Joachim
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- Rossi G.
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- Ruddy Kathryn
- Ruggeri Enzo Maria
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- Sami Amer
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- Schmatloch Sabine
- Schmidt M.
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- Schott Anne
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- Sevelda Paul
- Shao Z.
- Shao Zhimin
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- Sharma Priyanka
- Sharma Ruby
- Shen Kunwei
- Shenk Robert
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- Shenk Robert
- Siegel Robert
- Siggelkow Wulf
- Sigurdson Elin
- Silander Gustav
- Simon Hélène
- Simon Michael
- Singer C.F.
- Singer Christian
- Smith Ron
- Sohn Joo Hyuk
- Song Chuangui
- Sonke G.S.
- Sonke Gabe
- Soori Gamini
- Specht Jennifer
- Spector David
- Steen Preston
- Stefek Andrea
- Stickeler E.
- Stickeler Elmar
- Stockham Abigail
- Storniolo Anna M.V.
- Strasser-Weippl Kathrin
- Stöger Herbert
- Suga J. Marie
- Suga J. Marie
- Suga J. Marie
- Suga J. Marie
- Suga J. Marie
- Suga J. Marie
- Sugimoto Takeki
- Sui Xingwei
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- Sumida Kenneth N.M.
- Sumrall Bradley
- Sun Q.
- Sun Qiang
- Słowińska Anna
- T Benjamin
- Taboada M.
- Takada Masahiro
- Takahashi Masato
- Takano Toshimi
- Tan Antoinette
- Tato-Varela Sara
- Telli Melinda
- Tennevet I.
- Tennevet Isabelle
- Terhaag Jürgen
- Thiel Irene
- Thomalla Jörg
- Thomssen Christoph
- Tiley Susan
- Tinchon Christoph
- Tio Joke
- Tkaczuk Katherine H.R.
- Toi M.
- Tokuda Yutaka
- Tokunaga Eriko
- Tomé Oliver
- Tondini Carlo
- Toppmeyer Deborah
- Tormo Salvador Blanch
- Torres Antonio Antón
- Toyama Tatsuya
- Traina T.A.
- Tredan Olivier
- Trehan Shruti
- Tseng Ling-Ming
- Tsugawa Koichiro
- Tutt A.N.J.
- Tutt Andrew
- Uleer Christoph
- Unnikrishnan Madhu
- Urquhart Alexander
- Uziely Beatrice
- Vachhani Hetal
- Vakhariya Cynthia
- Valdes-Albini Frances
- van der Westhuizen Andre
- van Haelst Carol
- Vanderwoude Amy
- Varadarajan Ramya
- Varela Mirta
- Venat-Bouvet Laurence
- Verusio Claudio
- Viale G.
- Villaró Gemma Viñas
- Virani Shamsuddin
- Vogel Victor
- von Wachenfeldt Väppling Anna
- Wade James
- Wade James
- Wagner Harald
- Waisman James
- Wang Shui
- Wang Yongsheng
- Watanabe Junichiro
- Weigel Michael
- Weltermann Angsar
- Weniger Steffi
- Wette Viktor
- Wilbur Deborah
- Wilkinson Mary
- Winter Matthew
- Wolf Sütterlin Marc
- Wong Derrick
- Wong Lucas
- Wood Marie
- Wood Marie
- Woodward Natasha
- Wüllner Michaela Penelope
- Xu Binghe
- Yamauchi Hideko
- Yan Fengting
- Yanagita Yasuhiro
- Yang H.
- Yang Hongjian
- Yeh Dah-Cherng
- Yerushalmi R.
- Yerushalmi Rinat
- Yothers G.
- Yu Jyh-Cherng
- Zahm Dirk
- Zakalik Dana
- Zamagni Claudio
- Zaman Khalil
- Zarba Juan Jose
- Zera Richard
- Zera Richard
- Zhang J.
- Zhang Jin
- Zheng Hong
- Zhuo Ying
- Zimbler Harvey
- Zoppoli G.
- Öhler Leopold
- Španić T.
- Publication venue
- Elsevier
- Publication date
- 01/12/2022
- Field of study
International audienc