51 research outputs found
Optimization of facade design based on the impact of interior obstructions to daylighting
- Author
- A Hochberg
- B Lartigue
- C Smith
- CF Reinhart
- DHW Li
- DIALux
- E Ghisi
- E Liu
- EHW Chan
- F Bordas-Astudillo
- G Hausladen
- G Kim
- GB50034
- GB50180
- GB50352
- H Alzoubi
- H Bougdah
- H Jin
- HD Cheung
- I Ullah
- J Du
- J Gagne
- JF Wong
- Jian Kang
- K Parpairi
- M Boubekri
- MM Alkhresheh
- N Baker
- N Rooney
- N Rooney
- N Ruck
- Q Mahtab-uz-Zaman
- R Gifford
- R Leslie
- R Ünver
- SHANGHAI
- SNFS Husin
- TA Markus
- Tina Wolf
- W You
- X Su
- Y Lavafpour
- Y Zhao
- Yao Lu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 23/09/2015
- Field of study
Overcrowding in the perimeter zone is an inevitable issue in residential rooms with limited space. Obstructions, such as furniture and household items, may block the existing windows, and therefore affect interior daylight conditions. A facade design approach is needed that simultaneously takes into account daylighting and the volume of usable space for obstructions in the perimeter zone of such rooms. This study simulates daylight distributions in a typical small residential room with obstructions in front of windows. The simulation consists of two parts. First, the effects on horizontal illuminances caused by different positions and shapes of obstructions are examined under an overcast sky. Second, the maximum usable space volumes for obstructions of 51 optimized facade configurations are calculated in terms of four window-to-wall ratios (WWRs). The results of this study show that optimizing the forms of facade design can increase the usable interior space volume and meet the daylighting requirements of Chinese standards for small residential rooms. Additionally, by using the optimized facade forms, a facade with a WWR value of 50% provides the maximum usable space for obstructions. Based on the above results, this paper presents two matrices that can help architects in selecting the appropriate fenestration methods and confirming the size of usable space and allocation for residents
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
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- Barbaria Joseph A.
- Barbe Valérie
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- Barker Darren
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- Bemrose Richard
- Benard Michael Anthony
- BenKahla Alia
- Benke J
- Benner William
- Bennett James
- Bensasson Douda
- Bentley Andrew
- Bentley Dan
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- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
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- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
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- Blomstrom David B.
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- Blye Jason
- Blyth Peter R.
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- Bradshaw-Cordum Holly
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- Brandriff Brigitte F.
- Brannon Wade
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- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
- Brooking Shane
- Brottier Philippe
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- Bruno William J.
- Bruskiewich Richard
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- Buckle Veronica
- Buczek Donald
- Budd Claire
- Buhay Christian J.
- Bulbul Kerem
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- Bunker Nathan
- Burberry Jill
- Burch Paula Ellen
- Burford Deborah
- Burgess Joanne
- Burgin Matt
- Burkett Carrie E.
- Burkhart-Schultz Karolyn
- Burrell Kevin L.
- Burrill Wayne
- Burrows Christine
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- Burton John
- Butcher Phil
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- Butler Jon
- Butler Paul
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- Cahill Patrick
- Cai Tianjing
- Cai Zhen
- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
- Camm Nick
- Campbell Christopher
- Campbell Connie S.
- Campbell Evelyn W.
- Campbell Mary I.
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- Caoile Chenier
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- Chain Patrick
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- Chan Yee Man
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- Chapman Jarrod
- Chapman Joanna
- Chapple Jeffrey
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- Chasteen Leslie A.
- Chavarria Simeon
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- Chen Zhu
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- Chertkov Olga
- Cheshatsang Yama
- Chi Cheng
- Chi Han C.
- Chillingworth Neil
- Chin Sylvia
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- Cox Caroline D.
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- Coyle Marcus D.
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- Cummings Paul
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- Curran Adam
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- Daniels Rachael
- Dathorne Stephanie R.
- Daum Christopher
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- DeArellano Kurt
- Deaven Larry I.
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- Devlin Laurie
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- Gyaltsen Kunsang
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- Ha Chi
- Hafez Nabil
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- Hagopian Daniel
- Hagos Birhane
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- Hajek Patrick
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- Hawkins Ebere Sylvia Onyirioha
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- Haydu Lauren
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- Heyen Joshua
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- Hitchens Matthew Edward
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- Hodgson David
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- Honan Tracy
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- Hosseini Roya
- Hou Shunfang
- Hou Xiaodi
- Houde Nathan
- Howard Philip
- Howard Stephanie R.
- Howden Philip
- Howe Kevin
- Howell Gareth
- Howell Latoya Lynette
- Howells Sally Lucinda
- Hsu Fan
- Hu George
- Hu Jie
- Hu Songnian
- Huang Fang
- Huang Guyang
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- Huang Mei
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- Huang Wei
- Huang Wei
- Huang Zhengping
- Hubbard Timothy
- Huber James W.
- Huckle Elizabeth
- Hue Heather
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- Hughes Jennifer
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- Hume Jennifer
- Hummeric Holger
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- Humphries David
- Humphries Matthew
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- Hunter Giselle
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- Hupman Matt
- Huynh Sandy
- Hyde David
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- Iliev Ilian
- Imbro Paula
- Imo Kelvin C.
- Inacio Nicole
- Inagaki Naomi
- Ince Michael
- Ingram Drew
- Inoue Shuuji
- Isak Amber
- Isherwood Judith
- Ishibashi Akiko
- Ishikawa Sabine K.
- Ishizaki Hinako
- Isozaki Emi
- Israni Sanjay
- Ito Fumiaki
- Ito Noriko
- Itoh Takehiko
- Iwakawa Shinobu
- Iwatate Mariko
- Iwatsu Mikiko
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- Izmajlowicz Monica
- Izumiyama Tomohiro
- Jacintho Mark
- Jackson Laronda R.
- Jackson Terri
- Jacob Leni Susan
- Jaeger Sara
- Jaffe David B.
- Jahn Niels
- Jaklevic Joseph
- Jaklevic Michael
- James Kent W.
- Jareborg Niclas
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- Jeffery Kim
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- Jekosch Kerstin
- Jenkins Lee
- Jett Jamie
- Jewett Phillip E.
- Jia Jia
- Jia Jia
- Jia Nan
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- Jiang Lu
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- Jiang Ziyou
- Jimenez Alberto
- Jin Jian
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- Jin Yongsan
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- Johnson Bennie
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- Johnson Genevieve
- Johnson Lori
- Johnson Mark
- Johnson Philip
- Johnson Rudy
- Johnson Stephanie
- Jolivet Angela
- Jolley Keith
- Jones Abigail
- Jones Charlien
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- Jones Myrna D.
- Jones Steven
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- Keenan Stephen
- Kegelmeyer Laura
- Kegg Lisa
- Kelley Simon
- Kells Cristyn
- Kelly Shayna P.
- Kelly Susan H.
- Kershaw Joanna
- Kettleborough Ross
- Keys David
- Khan Arsi
- Khan Umer F.
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- Kidd Cathy
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- Kosiura Anna
- Kou Zhaohui
- Kovar Christie L.
- Krawczyk Marie-Claude
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- Kremmidiotis Gabriel
- Krogh Anders
- Kronmiller Brent
- Kruchowski Scott S.
- Kube Michael
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- Lamerdin Jane E.
- Lander Eric S.
- Landers Tom
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- Longmire Johnathan L.
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- Lorensuhewa Lorna M.
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- Loulseged Hermela
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- Lovell Jamie
- Lovett Demetria A.
- Lowenstein Michael G.
- Lowry Stephen
- Lozado Ryan J.
- Lu Lingfeng
- Lu Tao
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- Lu Yongxiang
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- Lu Yue
- Lucas Robert
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- Lucier Alice
- Lucier Raymond L.
- Ludeman Thom
- Lui Annie
- Lundgren Lyndsey
- Luo Chunqing
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- Machrus Migdad
- Macht Madison
- Macken Catherine A.
- MacLean Christine
- Madabhushi Ramki
- Madu Renita C.
- Maeda Hideto
- Maglott Donna
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- Mangum Brian
- Manning Jonathan
- Manohar Chitra
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- Mardis Elaine R.
- Mareth David
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- Marquis-Homeyer Catherine
- Marr Thomas G.
- Marra Marco
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- Matthews Charles D.
- Matthews Lucy
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- Matthews Paul
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- Mauceli Evan
- Maunes Cynthia
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- McLeod Michael P.
- McMurdo John
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- McMurray Kimberly L.
- McNinch Jenny
- McPherson John
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- Mehta Nalini
- Meidi Patrick
- Meier Elke
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- Menuge Noel
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- Mercer Simon
- Merritt Christina E.
- Mesirov Jill P.
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- Miller Christie
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- Miner Sheri
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- Minja Emmanuel
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- Murayama Yuji
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- Nair Latha
- Nair Seema R.
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- Nakagawa Masayo
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- Nazareth Lynne V.
- Neal Dearl D.
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- Nesbitt Ryan
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- Nguyen Natalie M.
- Nguyen Ngoc Bich
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- Nusbaum Chad
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- Nwokenkwo Stanley
- O\u27Donnell Paula
- O\u27Donovan Daniel
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- O\u27Loughlin Jennifer
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- Ohtsubo Masafumi
- Oinn Tom
- Okoawo Ose
- Okui Michiyo
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- Okwuonu Geoffrey O.
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- Olarnpunsagoon Alisa
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- Oliver Hayley
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- Olson Maynard V.
- Omotosho Bamidele
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- Oviedo Rodolfo J.
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- Ozawa Ritsuko
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- Padki Anuradha
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- Parkin Christopher
- Parkin Kim
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- Parry-Brown Ginny
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- Pasternak Shiran
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- Patel Vishal V.
- Patrick James
- Paul Heidie A.
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- Paulson Edward
- Payton Brett A.
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- Peng Vivian
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- Pennacchio Len A.
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- Percy Chantel
- Perez Agapito
- Perez Lesette M.
- Perito Andrew
- Perrault Isabelle
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- Qiang Boqin
- Qiao Zhenyong
- Qin Xiang
- Quail Michael
- Quan Glenda
- Quarrie Hannah
- Quiles Miyo M.
- Quince Chris
- Quiroz Juana B.
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- Rachlin Eric K.
- Rachupka Anthony
- Radionenko Maxim
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- Ramasami Umadevi
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- Reily Amy D.
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- Richardson Susan
- Ricke Darryl O.
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- Riley B.E
- Rise Cecil
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- Robinson Melanie
- Rochford Rebecca
- Rock Susan M.
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- Sasaki Takashi
- Satpathy Suraj
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- Saurin William
- Savery Glenford G.
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- Saxman Eric
- Scarpelli Claude
- Scharfe Maren
- Schatzkamer Kyriena L.
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- Siepel Adam C.
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- Song Xing-Zhi
- Sonnhammer Erik
- Sonnhammer Erik
- Sorelle Richard P.
- Sotheran Elizabeth
- Sougnez Carrie
- Spainhower Corey
- Sparks Anastasia L.
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- Spraggon Lee
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- Stalker John
- Stallings Raymond I.
- Stalvey Malinda
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- Subramanian Sandhya
- Sudbrak Ralf
- Sugnet Charles W.
- Sulston John
- Summers Leslie J.
- Sun Hui
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- Sun Min
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- Sun Wei
- Sun Yongqiao
- Sun Yu
- Sun Yue
- Sutherland Grant R.
- Sutherland Robert D.
- Sutton Angelica E.
- Svatek Amanda F.
- Svetz Jessica
- Svetz Leah Anne
- Swainson Chris
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- Sycamore Neil
- Ségurens Béatrice
- Tabor Paul E.
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- Takaoka Tori
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- Tan Xinyu
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- Tapia Roxanne
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- Tatsuyama Miho
- Tatum Owatha I.
- Taudien Stefan
- Taylor Amy
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- Taylor Todd Duane
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- Thorne Rachel Diane
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- Tian Chaoguang
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- Tinsley Emma
- Tochigi Miwako
- Togashi Naoko
- Tomizawa Iori
- Tomlinson Chad
- Tong Jingli
- Topham Kerri
- Torcaso Bill
- Torney David C.
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- Zhang Haiqing
- Zhang Haiqing
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- Zhang Xianglin
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- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
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- Zhang Yilin
- Zhang Ying
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- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector
- Author
- Aaboud Morad
- Aad Georges
- Abbott Brad
- Abdinov Ovsat
- Abeloos Baptiste
- Abidi Syed
- AbouZeid Ossama
- Abraham Nicola
- Abramowicz Halina
- Abreu Henso
- Abreu Ricardo
- Abulaiti Yiming
- Acharya Bobby
- Adachi Shunsuke
- Adamczyk Leszek
- Adelman Jahred
- Adersberger Michael
- Adye Tim
- Affolder Tony
- Afik Yoav
- Agatonovic-Jovin Tatjana
- Agheorghiesei Catalin
- Aguilar-Saavedra Juan
- Ahlen Steven
- Ahmadov Faig
- Aielli Giulio
- Akatsuka Shunichi
- Akerstedt Henrik
- Akilli Ece
- Akimov Andrei
- Alberghi Gian
- Albert Justin
- Albicocco Pietro
- Alconada Verzini Maria
- Alderweireldt Sara
- Aleksa Martin
- Aleksandrov Igor
- Alexa Calin
- Alexander Gideon
- Alexopoulos Theodoros
- Alhroob Muhammad
- Ali Babar
- Aliev Malik
- Alimonti Gianluca
- Alison John
- Alkire Steven
- Allbrooke Benedict
- Allen Benjamin
- Allport Phillip
- Aloisio Alberto
- Alonso Alejandro
- Alonso Francisco
- Alpigiani Cristiano
- Alshehri Azzah
- Alstaty Mahmoud
- Alvarez Gonzalez Barbara
- Alviggi Mariagrazia
- Amadio Brian
- Amaral Coutinho Yara
- Amelung Christoph
- Amidei Dante
- Amor Dos Santos Susana
- Amoroso Simone
- Anastopoulos Christos
- Ancu Lucian
- Andari Nansi
- Andeen Timothy
- Anders Christoph
- Anders John
- Anderson Kelby
- Andreazza Attilio
- Andrei George
- Angelidakis Stylianos
- Angelozzi Ivan
- Angerami Aaron
- Anisenkov Alexey
- Anjos Nuno
- Annovi Alberto
- Antel Claire
- Antonelli Mario
- Antonov Alexey
- Antrim Daniel
- Anulli Fabio
- Aoki Masato
- Aperio Bella Ludovica
- Arabidze Giorgi
- Arai Yasuo
- Araque Juan
- Araujo Ferraz Victor
- Arce Ayana
- Ardell Rose
- Arduh Francisco
- Arguin Jean-Francois
- Argyropoulos Spyridon
- Arik Metin
- Armbruster Aaron
- Armitage Lewis
- Arnaez Olivier
- Arnold Hannah
- Arratia Miguel
- Arslan Ozan
- Artamonov Andrei
- Artoni Giacomo
- Artz Sebastian
- Asai Shoji
- Asbah Nedaa
- Ashkenazi Adi
- Asquith Lily
- Assamagan Ketevi
- Astalos Robert
- Atkinson Markus
- Atlay Naim
- Augsten Kamil
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- Axen Bradley
- Ayoub Mohamad
- Azuelos Georges
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- Baca Matthew
- Bachacou Henri
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- Backes Moritz
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- Bajic Milena
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- Barkeloo Jason
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- Bawa Harinder
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- Beauchemin Pierre-Hugues
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- Beck Helge
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- Becker Maurice
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- Beddall Ayda
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- Bee Christopher
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- Begel Michael
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- Bella Gideon
- Bellagamba Lorenzo
- Bellerive Alain
- Bellomo Massimiliano
- Belotskiy Konstantin
- Beltramello Olga
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- Bessidskaia Bylund Olga
- Bessner Martin
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- Bethani Agni
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- Bevan Adrian
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- Bianchi Riccardo-Maria
- Biebel Otmar
- Biedermann Dustin
- Bielski Rafal
- Bierwagen Katharina
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- Biglietti Michela
- Billoud Thomas
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- Bogdanchikov Alexander
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- Yamazaki Yuji
- Yan Zhen
- Yang Haijun
- Yang Hongtao
- Yang Yi
- Yang Zongchang
- Yao Weiming
- Yap Yee
- Yasu Yoshiji
- Yatsenko Elena
- Yau Wong Kaven
- Ye Jingbo
- Ye Shuwei
- Yeletskikh Ivan
- Yigitbasi Efe
- Yildirim Eda
- Yorita Kohei
- Yoshihara Keisuke
- Young Charles
- Young Christopher
- Yu Jaehoon
- Yu Jie
- Yuen Stephanie
- Yusuff Imran
- Zabinski Bartlomiej
- Zacharis Georgios
- Zaidan Remi
- Zaitsev Alexander
- Zakharchuk Nataliia
- Zalieckas Justas
- Zaman Aungshuman
- Zambito Stefano
- Zanzi Daniele
- Zeitnitz Christian
- Zemaityte Gabija
- Zemla Andrzej
- Zeng Jian
- Zeng Qi
- Zenin Oleg
- Zerwas Dirk
- Zhang Dengfeng
- Zhang Dongliang
- Zhang Fangzhou
- Zhang Guangyi
- Zhang Huijun
- Zhang Jinlong
- Zhang Lei
- Zhang Liqing
- Zhang Matt
- Zhang Peng
- Zhang Rui
- Zhang Ruiqi
- Zhang Xueyao
- Zhang Yu
- Zhang Zhiqing
- Zhao Xiandong
- Zhao Yongke
- Zhao Zhengguo
- Zhemchugov Alexey
- Zhou Bing
- Zhou Chen
- Zhou Li
- Zhou Maosen
- Zhou Mingliang
- Zhou Ning
- Zhou You
- Zhu Cheng
- 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
- Zou Rui
- zur Nedden Martin
- Zwalinski Lukasz
- Åkesson Torsten
- Šfiligoj Tina
- Ženiš Tibor
- Živković Lidija
- Άlvarez Piqueras Damián
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2017
- Field of study
A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
- Author
- Ahmed Munaza
- Aitken Stuart
- Aitman Timothy
- Akawi Nadia
- Al Turki Saeed
- Alachkar Hana
- Ali Sonia
- Allen Hana Lango
- Allen Louise
- Allsup David
- Alvi Mohsan
- Ambegaonkar Gautum
- Ambridge Kirsty
- Anderson Carl
- Anderson Julie
- Anjum Uruj
- Anney Richard
- Antony Dinu
- Antrobus Richard
- Archer Hayley
- Armstrong Ruth
- Armstrong Ruth
- Arno Gavin
- Artigas Maria Soler
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Awada Jana
- Ayub Muhammad
- Bacchelli Chiara
- Bakchoul Tamam
- Balasubramaniam Senduran
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Bariana Tadbir K.
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Barrett Jeffrey C.
- Barroso Inês
- Batstone Paul
- Baty David
- Baxendale Helen
- Bayzetinova Tanya
- Beales Phil
- Bennett Chris
- Bennett David
- Bentham Jamie
- Berg Jonathan
- Bernhard Birgitta
- Bethune Claire
- Bevan A. Paul
- Bhattacharya Shoumo
- Bibi Shahnaz
- Birney Ewan
- Bitner-Glindzicz Maria
- Bitner-Glindzicz Maria
- Blackwood Douglas
- Blair Edward
- Bleda Marta
- Blyth Moira
- Bobrow Martin
- Bochukova Elena
- Boggard Harm
- Bohanna David
- Bolton Patrick
- Bolton-Maggs Paula
- Booth Claire
- Bounds Rebecca
- Bourdon Louise
- Bourn David
- Boustred Chris
- Bradley John R.
- Bradley Lisa
- Brady Angela
- Brady Angie
- Breen Gerome
- Brent Simon
- Brewer Carole
- Brown Matthew
- Browning Michael
- Brunstrom Kate
- Bryant Emily
- Bryson Christine
- Bunyan David J.
- Burn John
- Burns Siobhan
- Calissano Mattia
- Calleja Paul
- Canham Natalie
- Canham Natalie
- Carmichael Jenny
- Carss Keren
- Carss Keren
- Carss Keren J.
- Carvill Gemma L.
- Castle Bruce
- Caulfield Mark
- Chalmers Elizabeth
- Chandler Kate
- Chandra Anita
- Chatterjee Krishna
- Chatzimichali Elena
- Chen Lu
- Chinnery Patrick
- Chitre Manali
- Church Colin
- Ciampi Antonio
- Cilliers Deirdre
- Cirak Sebhattin
- Clapham Peter
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clement Emma
- Clement Gail
- Clements-Brod Naomi
- Clowes Virginia
- Clowes Virginia
- Coates Andrea
- Coates Guy
- Coghlan Gerry
- Cole Trevor
- Colgiu Irina
- Collier David
- Collins Amanda
- Collins Peter
- Collinson Morag N.
- Connell Fiona
- Cooper Nichola
- Cooper Nicola
- Cosgrove Catherine
- Cox Helen
- Cox Tony
- Craddock Nick
- Creaser-Myers Amanda
- Cresswell Lara
- Crooks Lucy
- Cross Gareth
- Cross J. Helen
- Crow Yanick
- Curran Sarah
- Curtis David
- D?Alessandro Mariella
- Dabir Tabib
- DaCosta Rosa
- Daly Allan
- Daugherty Louise
- Davidson Rosemarie
- Davies Sally
- Davies Sophie
- Davis John
- Day Ian N.M.
- Day-Williams Aaron
- de Vries Dylan
- De Vries Minka
- Dean John
- Debelle Geoff D.
- Deegan Patrick
- Deevi Sri V.V.
- Deshpande Charu
- Deshpande Charu
- Devlin Gemma
- Devlin Lisa
- Dewhurst Eleanor
- Dixit Abhijit
- Dobbie Angus
- Doffinger Rainer
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Dormand Natalie
- Douglas Angela
- Douzgou Sofia
- Down Thomas
- Drewe Elizabeth
- Du Yuanping
- Duncan Alexis
- Dunham Ian
- Eason Jacqueline
- Edgar David
- Edkins Sarah
- Egner William
- Ellard Sian
- Ellis Ian
- Ellis Peter
- Elmslie Frances
- Erber Wendy N.
- Erwood Marie
- Evans David
- Evans Karenza
- Everest Sarah
- Everington Tamara
- Faroogi Sadaf
- Fatemifar Ghazaleh
- Favier Remi
- Fendick Tina
- Firth Helen
- Firth Helen V.
- Fisher Richard
- Fitzgerald Tomas W.
- FitzPatrick David R.
- Fitzpatrick David R.
- Fletcher Debra
- Flicek Paul
- Flinter Frances
- Flinter Frances
- Flyod James
- Foley A. Reghan
- Foulds Nicola
- Fox James C.
- Franklin Christopher S.
- Frary Amy
- Freson Kathleen
- Fry Andrew
- Fryer Alan
- Furie Bruce
- Furnell Abigail
- Futema Marta
- Gale Daniel
- Gallagher Louise
- Gardham Alice
- Gardiner Carol
- Gattens Michael
- Gaunt Lorraine
- Geihs Matthias
- Geschwind Daniel
- Ghali Neeti
- Ghali Neeti
- Ghataorhe Pavandeep K.
- Ghurye Rohit
- Gibbons Richard
- Gibbs Simon
- Gill Harinder
- Gilmour Kimberley
- Gissen Paul
- Goddard Sarah
- Gomez Keith
- Goodship Judith
- Gordins Pavel
- Gorman Kathleen M.
- Goudie David
- Gray Emma
- Green Andrew
- Greene Daniel
- Greene Philip
- Greenhalgh Alan
- Greenhalgh Lynn
- Greinacher Andreas
- Gribble Susan
- Griffin Heather
- Grigoriadou Sofia
- Grozeva Detelina
- Gräf Stefan
- Guo Xiaosen
- Guo Xueqin
- Gurling Hugh
- Haack Tobias B.
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Haimel Matthias
- Halmagyi Csaba
- Hammerton Tracey
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hart Daniel
- Hart Deborah
- Hawkins Rose
- Hayman Grant
- He Liu
- Heemskerk Johan W.M.
- Hellens Stephen
- Henderson Alex
- Henderson Robert
- Hendricks Audrey
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holden Simon
- Holder Muriel
- Holder Muriel
- Holder Susan
- Holder Susan
- Hollingsworth Georgina
- Holmans Peter
- Homfray Tessa
- Howie Bryan
- Hu Fengyuan
- Huang Liren
- Hubbard Tim
- Huissoon Aarnoud
- Humbert Marc
- Humphreys Mervyn
- Humphries Steve E.
- Hurles Matthew E.
- Hurles Matthew E.
- Hurst Jane
- Hurst Jane
- Hutton Ben
- Hysi Pirro
- Ingram Stuart
- Iotchkova Valentina
- Irving Melita
- Islam Lily
- Jackson Andrew
- Jackson David K.
- James Roger
- Jamshidi Yalda
- Jan-Kamsteeg Eric
- Jarvis Joanna
- Jenkins Lucy
- Jing Tian
- Johnson Diana
- Jolles Stephen
- Jones Elizabeth
- Jones Philip
- Jones Wendy D.
- Josifova Dragana
- Josifova Dragana
- Joss Shelagh
- Joyce Chris
- Kaemba Beckie
- Kaplanis Joanna
- Kaye Jane
- Kazembe Sandra
- Kazmi Rashid
- Keane Thomas
- Keeling David
- Kelleher Peter
- Kelly Anne M.
- Kelsell Rosemary
- Kemp John
- Kennedy Fiona
- Kennedy Karen
- Keogh Julia
- Kerr Bronwyn
- Kiely David
- King Daniel
- King Mary D.
- Kingston Helen
- Kingston Nathalie
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kolb-Kokocinski Anja
- Koziell Ania
- Kraus Alison
- Krishnakumar Deepa
- Krishnappa Netravathi
- Kuijpers Taco W.
- Kumar Dhavendra
- Kumar V. K. Ajith
- Kumararatne Dinakantha
- Kurian Manju
- Kurian Manju A.
- Lachance Genevieve
- Lachlan Katherine
- Laffan Michael A.
- Lam Wayne
- Lambert Michele P.
- Lampe Anne
- Langford Cordelia
- Langman Caroline
- Lawrie Allan
- Lawson Daniel
- Lear Sara
- Lee Irene
- Lees Melissa
- Lees Melissa
- Lek Monkol
- Lentaigne Claire
- Li Rui
- Li Yingrui
- Liang Jieqin
- Liesner Ri
- Lim Derek
- Lin Hong
- Linger Rachel
- Liu Ryan
- Longhurst Hilary
- Longman Cheryl
- Lopes Margarida
- Lorenzo Lorena
- Lowther Gordon
- Lynch Sally A.
- Lönnqvist Jouko
- MacArthur Daniel
- Machado Rajiv
- Mackenzie Rob
- MacLaren Robert
- Magee Alex
- Maher Eamonn
- Maher Eamonn R.
- Maher Eddy
- Maimaris Jesmeen
- Male Alison
- Mangles Sarah
- Manson Ania
- Mansour Sahar
- Mapeta Rutendo
- Marchini Jonathan
- Marenne Gaëlle
- Marks Karen
- Markus Hugh S.
- Martin Jennifer
- Martin Katherine
- Masati Larahmie
- Maslen John
- Mason Laura E.
- Massimo Mangino
- Mathias Mary
- Mathieson Iain
- Matser Vera
- Maw Anna
- Maye Una
- McCann Emma
- McConnell Vivienne
- McCullagh Gary
- McDermott Elizabeth
- McEntagart Meriel
- McGowan Ruth
- McGuffin Peter
- McIntosh Andrew
- McJannet Coleen
- McKay Kirsten
- McKechanie Andrew G.
- McKee Shane
- McMullan Dominic J.
- McNerlan Susan
- McQuillin Andrew
- McRae Jeremy F.
- McTague Amy
- McWilliam Catherine
- Meacham Stuart
- Meehan Sharon
- Mefford Heather C.
- Megy Karyn
- Mehta Sarju
- Mehta Sarju
- Metcalfe Kay
- Metrustry Sarah
- Meyer Esther
- Michaelides Michel
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Millar Carolyn M.
- Millichap John J.
- Mitchison Hannah
- Moayyeri Alireza
- Mohammed Shehla
- Moledina Shahin
- Montgomery Tara
- Moore Anthony
- Moore David
- Morgan Sian
- Morrell Nicholas
- Morris James
- Morton Jenny
- Morton Jenny
- Mugalaasi Hood
- Mumford Andrew
- Muntoni Francesco
- Murday Victoria
- Murng Sai
- Murphy Elaine
- Murphy Helen
- Naik Swati
- Nejentsev Sergey
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Noorani Sadia
- Norman Andrew
- Northstone Kate
- Nurden Paquita
- O'Donovan Michael
- O'Rahilly Stephen
- O'Shea Rosie
- Ogilvie Caroline
- Oksenhendler Eric
- Ong Kai-Ren
- Onoufriadis Alexandros
- Oualkacha Karim
- Ouwehand Willem H.
- Owen Michael J.
- Paciorkowski Alex R.
- Palotie Aarno
- Panoutsopoulou Kalliope
- Papadia Sofia
- Park Soo-Mi
- Park Soo-Mi
- Parker Alasdair
- Parker Michael
- Parker Michael J.
- Parker Victoria
- Parr Jeremy R.
- Pasi John
- Patch Chris
- Patel Chirag
- Paternoster Lavinia
- Paterson Joan
- Paterson Joan
- Paunio Tiina
- Payne Felicity
- Payne Jeanette
- Payne Stewart
- Peacock Andrew
- Peerlinck Kathelijne
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Perrett Daniel
- Perry David J.
- Phipps Julie
- Pietilainen Olli
- Pilz Daniela T.
- Plagnol Vincent
- Poduri Annapurna
- Pollard Martin
- Pollock Val
- Polwarth Gary
- Ponsford Mark
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Pressler Ronit M.
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Qasim Waseem
- Quail Michael A.
- Quarrell Oliver
- Quaye Lydia
- Quinti Isabella
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Randall Josh
- Rankin Julia
- Rankin Julia
- Rankin Stuart
- Raymond F. Lucy
- Raymond F. Lucy
- Raymond Lucy
- Raymond Lucy
- Rehnstrom Karola
- Rehnström Karola
- Reich Adi
- Reid Evan
- Rhodes Christopher J.
- Rice Debbie
- Richards Michael
- Richardson Sylvia
- Richter Alex
- Ring Susan
- Ritchie Graham R.S.
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Irene
- Roberts Jonathan
- Roberts Nicola
- Roberts Paul
- Rondina Matthew
- Ross Alison
- Rosser Elisabeth
- Rosser Elisabeth
- Roughley Catherine
- Rue-Albrecht Kevin
- Saggar Anand
- Samant Shalaka
- Samarghitean Crina
- Sampson Julian
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sandford Richard
- Sandford Richard
- Santra Saikat
- Sargur Ravishankar
- Sarkar Ajoy
- Savage David B.
- Savic Sinisa
- Scambler Peter
- Scheffer Ingrid E.
- Schiffels Stephen
- Schmidts Miriam
- Schneider Amy L.
- Schoenmakers Nadia
- Schulman Sol
- Schulze Harald
- Schweiger Susann
- Scott Richard
- Scott Richard
- Scully Marie
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Semple Robert K.
- Seneviratne Suranjith
- Sequeira Cheryl
- Serra Eva
- Sewell Carrock
- Shamardina Olga
- Shannon Nora
- Sharif Saba
- Sharp Sally I.
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Shin So-Youn
- Shipley Debbie
- Sieciechowicz Diana
- Sifrim Alejandro
- Simeoni Ilenia
- Simonic Ingrid
- Simpson Michael A.
- Singh Tarjinder
- Singzon Roldan
- Sivapalaratnam Suthesh
- Skitt Zara
- Skuse David
- Small Kerrin
- Smith Audrey
- Smith Kath
- Smith Kenneth
- Smithson Sarah
- Sneddon Linda
- Sohal Aman
- Southam Lorraine
- Southgate Laura
- Spasic-Boskovic Olivera
- Spinelli Egidio
- Splitt Miranda
- Squires Miranda
- St Clair David
- St Pourcian Beate
- Staines Simon
- Stalker Jim
- Staples Emily
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stevens Elizabeth
- Stewart Fiona
- Stewart Helen
- Stirrups Kathleen
- Stock Sophie
- Straub Volker
- Sun Jianping
- Suntharalingam Jay
- Suri Mohnish
- Sutton Vivienne
- Suvisaari Jaana
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tachmazidou Ionna
- Tait R. Campbell
- Talks Kate
- Tan Yvonne
- Tatton-Brown Kate
- Taylor Cat
- Taylor Rohan
- Tein Mark
- Temple I. Karen
- Thachil Jecko
- Thaventhiran James
- Thomas Ellen
- Thomas Moira
- Thompson Dorothy
- Thomson Jenny
- Thrasher Adrian
- Tischkowitz Marc
- Tischkowitz Marc
- Titterton Catherine
- Tivey Adrian R.
- Tobin Martin D.
- Toh Cheng-Hock
- Tomkins Susan
- Torokwa Audrey
- Toshner Mark
- Treacy Becky
- Treacy Carmen
- Trembath Richard
- Tuna Salih
- Turek Wojciech
- Turner Claire
- Turnpenny Peter
- Turro Ernest
- Tysoe Carolyn
- Valdes Ana
- Van Geet Chris
- Van Kogelenberg Margriet
- Vandersteen Anthony
- Varghese Vinod
- Vasudevan Pradeep
- Veltman Marijke
- Vijayarangakannan Parthiban
- Vijayarangakannan Parthiban
- Visscher Peter M.
- Vogt Julie
- Vogt Julie
- von Ziegenweldt Julie
- Vonk Noordegraaf Anton
- Wain Louise V.
- Wakeling Emma
- Wakeling Emma
- Wallwark Sarah
- Walters James T.R.
- Wang Guangbiao
- Wang Jun
- Wang Yu
- Wanjiku Ivy
- Ward Kirsten
- Warner Timothy Q.
- Wassmer Evangeline
- Wassmer Evangeline
- Waters Jonathon
- Watkins Hugh
- Weber Astrid
- Webster Andrew
- Welch Steve
- Wellesley Diana
- Westbury Sarah
- Wharton John
- Wheeler Elanor
- Whiteford Margo
- Whitehorn Deborah
- Whyte Tamieka
- Widaa Sara
- Wilcox Sarah
- Wilkins Martin
- Wilkinson Emily
- Willcocks Lisa
- Williams Denise
- Williams Hywel
- Williams Nicola
- Williamson Catherine
- Williamson Kathleen A.
- Wilson Crispian
- Wilson Louise
- Wong Kim
- Woods Geoff
- Woods Geoffrey
- Wort John
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Xu ChangJiang
- Yang Jian
- Yates Laura
- Yau Michael
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Zhang Fend
- Zhang Pingbo
- Publication venue
- AJHG
- Publication date
- 01/01/2019
- Field of study
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
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- Shimin Shuai
- Shinichi Mizuno
- Shinichi Yachida
- Shinya Hayami
- Shogo Yamamoto
- Shona MacRae
- Shriram G Bhosle
- Shuai Ding
- Shumpei Ishikawa
- Shun-Ichi Ariizumi
- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
- Siliang Li
- Simon C Heath
- Simon L Parsons
- Simon Mayes
- Simon Tavaré
- Simpson Jared T
- Singer Ma
- Sinisa Ivkovic
- Sissel Juul
- Solomon I Shorser
- Sonia Grimaldi
- Sonia Puig
- Stacey B Gabriel
- Stefan C Dentro
- Stefan G Stark
- Stefan M Pfister
- Stefan Schreiber
- Stefania Tommasi
- Stefano Barbi
- Stefano Serra
- Stephan H Bernhart
- Stephan Ossowski
- Stephan Ossowski
- Stephan Stilgenbauer
- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
- Stephenie D Prokopec
- Steve Hawkins
- Steve Hoffmann
- Steven A Roberts
- Steven E Schumacher
- Steven Foltz
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Sushant Kumar
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Neuronal release of proBDNF
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A unique sequence in the N-terminal regulatory region controls the nuclear localization of KLF8 by cooperating with the C-terminal zinc-fingers
- Author
- Alison M Urvalek
- C Matheny
- CO Pabo
- DA Jans
- DC Han
- EC LaCasse
- Farah Monzur
- G Lomberk
- H Wei
- Heng Lu
- IK Poon
- J Kaczynski
- J Turner
- J van Vliet
- J Zhao
- Jameson Q Ma
- JH Zhao
- Jihe Zhao
- JM Shields
- Jojo D Hammond
- K Pandya
- K Weis
- Kim-Hang H Nguyen
- KJ Quadrini
- L Thevenet
- M Fabbro
- MN Hall
- MN Hall
- N Corbi
- Q Ding
- R Dono
- R Truant
- S Philipsen
- S Sachdev
- SH Lee
- T Ishidate
- Tina S Mehta
- VW Pollard
- WM Michael
- X Wang
- X Wang
- X Wang
- XC Fan
- Xianhui Wang
- Y Takei
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The heptad repeat region is a major selection target in MERS-CoV and related coronaviruses
- Author
- A Loytynoja
- AM Zaki
- B Longdon
- B Murrell
- B Pacheco
- B Rockx
- B Rockx
- BJ Bosch
- CA de Haan
- D Eggink
- DJ Wilson
- E Capriotti
- E Privman
- G Lu
- J Gao
- J Schymkowitz
- J Zhang
- JA Al-Tawfiq
- JK Millet
- K Mori
- KG Tina
- L Lu
- M Anisimova
- M Anisimova
- M Anisimova
- O Penn
- Q Wang
- RJ de Groot
- RL Graham
- S Guindon
- S Jiang
- S Jiang
- S Khan
- S Liu
- S Navas-Martin
- S Watanabe
- SK Lau
- SL Kosakovsky Pond
- SL Kosakovsky Pond
- T Scobey
- T Ying
- TR Suntoke
- VM Corman
- VM Corman
- W Delport
- WC McRoy
- WH Gharib
- XC Tang
- Y Yamada
- Y Yang
- Z Yang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Effects of Sevoflurane Exposure During Late Pregnancy on Brain Development and Beneficial Effects of Enriched Environment on Offspring Cognition
- Author
- A De Tina
- A Sen
- AJ Baucum 2nd
- CM Yeh
- CQ Lu
- DB Andropoulos
- F Fang
- F Fang
- F Luo
- F McLeod
- FY Shen
- H Hirase
- H Park
- H Xu
- H Zheng
- Haiyun Wang
- HK Titley
- J Li
- J Nithianantharajah
- J Shih
- J Zhang
- JC Ibla
- Jian Cui
- Jianbo Wang
- Jinxin Wang
- K Ilieva
- K Mahati
- K Servick
- KA Li
- KK Noguchi
- L Gui
- LG Amrock
- LS Ju
- MH Ji
- MH Ji
- OA Olutoye
- Pei Junzhang
- Q Zhou
- R Nieto
- R Song
- S He
- S Wang
- SB Chidambaram
- T Suehara
- VR Bhagya
- W Chung
- X Lv
- X Zhou
- Y Li
- Y Lu
- Y Shan
- Y Tian
- Y Zhao
- Z Wu
- Zhiqiang Yu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
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- Kebebew Electron
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- Kleinheinz Kortine
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- Korshunov Andrey
- Koscher Michael
- Koster Roelof
- Kote-Jarai Zsofia
- Koures Antonios
- Kovacevic Milena
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- Kreuz Markus
- Krishnamurthy Savitri
- Kube Dieter
- Kumar Kiran
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- Xiao Xiao
- Xing Rui
- Xiong Heng
- Xu Qinying
- Xu Yanxun
- Xue Hong
- Yachida Shinichi
- Yakneen Sergei
- Yamaguchi Rui
- Yamaguchi Takafumi N.
- Yamamoto Masakazu
- Yamamoto Shogo
- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
- Yang Liming
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- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 28/08/2020
- Field of study
Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376Abstract: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research
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