Showing 1–15 of 15 results
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- Cristopher V. Van Hout
- , Ioanna Tachmazidou
- , Joshua D. Backman
- , Joshua D. Hoffman
- , Daren Liu
- , Ashutosh K. Pandey
- , Claudia Gonzaga-Jauregui
- , Shareef Khalid
- , Bin Ye
- , Nilanjana Banerjee
- , Alexander H. Li
- , Colm O’Dushlaine
- , Anthony Marcketta
- , Jeffrey Staples
- , Claudia Schurmann
- , Alicia Hawes
- , Evan Maxwell
- , Leland Barnard
- , Alexander Lopez
- , John Penn
- , Lukas Habegger
- , Andrew L. Blumenfeld
- , Xiaodong Bai
- , Sean O’Keeffe
- , Ashish Yadav
- , Kavita Praveen
- , Marcus Jones
- , William J. Salerno
- , Wendy K. Chung
- , Ida Surakka
- , Cristen J. Willer
- , Kristian Hveem
- , Joseph B. Leader
- , David J. Carey
- , David H. Ledbetter
- , Lon Cardon
- , George D. Yancopoulos
- , Aris Economides
- , Giovanni Coppola
- , Alan R. Shuldiner
- , Suganthi Balasubramanian
- , Michael Cantor
- , Matthew R. Nelson
- , John Whittaker
- , Jeffrey G. Reid
- , Jonathan Marchini
- , John D. Overton
- , Robert A. Scott
- , Gonçalo R. Abecasis
- , Laura Yerges-Armstrong
- & Aris Baras
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Li Xin Zhang
- , Gabrielle Lemire
- , Claudia Gonzaga-Jauregui
- , Sirinart Molidperee
- , Carolina Galaz-Montoya
- , David S. Liu
- , Alain Verloes
- , Amelle G. Shillington
- , Kosuke Izumi
- , Alyssa L. Ritter
- , Beth Keena
- , Elaine Zackai
- , Dong Li
- , Elizabeth Bhoj
- , Jennifer M. Tarpinian
- , Emma Bedoukian
- , Mary K. Kukolich
- , A. Micheil Innes
- , Grace U. Ediae
- , Sarah L. Sawyer
- , Karippoth Mohandas Nair
- , Para Chottil Soumya
- , Kinattinkara R. Subbaraman
- , Frank J. Probst
- , Jennifer A. Bassetti
- , Reid V. Sutton
- , Richard A. Gibbs
- , Chester Brown
- , Philip M. Boone
- , Ingrid A. Holm
- , Marco Tartaglia
- , Giovanni Battista Ferrero
- , Marcello Niceta
- , Maria Lisa Dentici
- , Francesca Clementina Radio
- , Boris Keren
- , Constance F. Wells
- , Christine Coubes
- , Annie Laquerrière
- , Jacqueline Aziza
- , Charlotte Dubucs
- , Sheela Nampoothiri
- , David Mowat
- , Millan S. Patel
- , Ana Bracho
- , Francisco Cammarata-Scalisi
- , Alper Gezdirici
- , Alberto Fernandez-Jaen
- , Natalie Hauser
- , Yuri A. Zarate
- , Katherine A. Bosanko
- , Klaus Dieterich
- , John C. Carey
- , Jessica X. Chong
- , Deborah A. Nickerson
- , Michael J. Bamshad
- , Brendan H. Lee
- , Xiang-Jiao Yang
- , James R. Lupski
- & Philippe M. Campeau
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
- Claudia Gonzaga-Jauregui
- , Gozde Yesil
- , Harikiran Nistala
- , Alper Gezdirici
- , Yavuz Bayram
- , Kalyan C. Nannuru
- , Davut Pehlivan
- , Bo Yuan
- , Johanna Jimenez
- , Yavuz Sahin
- , Ingrid S. Paine
- , Zeynep Coban Akdemir
- , Saathyaki Rajamani
- , Jeffrey Staples
- , John Dronzek
- , Kristen Howell
- , Jawid M. Fatih
- , Silvia Smaldone
- , Alan E. Schlesinger
- , Norman Ramírez
- , Alberto S. Cornier
- , Melissa A. Kelly
- , Robert Haber
- , Shek Man Chim
- , Kristy Nieman
- , Nan Wu
- , Johnathon Walls
- , William Poueymirou
- , Chia-Jen Siao
- , V. Reid Sutton
- , Marc S. Williams
- , Jennifer E. Posey
- , Richard A. Gibbs
- , Simon Carlo
- , David H. Tegay
- , Aris N. Economides
- & James R. Lupski
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Genomic diagnostics within a medically underserved population: efficacy and implications
- Kevin A Strauss
- , Claudia Gonzaga-Jauregui
- , Karlla W Brigatti
- , Katie B Williams
- , Alejandra K King
- , Cristopher Van Hout
- , Donna L Robinson
- , Millie Young
- , Kavita Praveen
- , Adam D Heaps
- , Mindy Kuebler
- , Aris Baras
- , Jeffrey G Reid
- , John D Overton
- , Frederick E Dewey
- , Robert N Jinks
- , Ian Finnegan
- , Scott J Mellis
- , Alan R Shuldiner
- & Erik G Puffenberger
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
- Levi B Watkin
- , Birthe Jessen
- , Wojciech Wiszniewski
- , Timothy J Vece
- , Max Jan
- , Youbao Sha
- , Maike Thamsen
- , Regie L P Santos-Cortez
- , Kwanghyuk Lee
- , Tomasz Gambin
- , Lisa R Forbes
- , Christopher S Law
- , Asbjørg Stray-Pedersen
- , Mickie H Cheng
- , Emily M Mace
- , Mark S Anderson
- , Dongfang Liu
- , Ling Fung Tang
- , Sarah K Nicholas
- , Karen Nahmod
- , George Makedonas
- , Debra L Canter
- , Pui-Yan Kwok
- , John Hicks
- , Kirk D Jones
- , Samantha Penney
- , Shalini N Jhangiani
- , Michael D Rosenblum
- , Sharon D Dell
- , Michael R Waterfield
- , Feroz R Papa
- , Donna M Muzny
- , Noah Zaitlen
- , Suzanne M Leal
- , Claudia Gonzaga-Jauregui
- , Eric Boerwinkle
- , N Tony Eissa
- , Richard A Gibbs
- , James R Lupski
- , Jordan S Orange
- & Anthony K Shum
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy
- Davut Pehlivan
- , Christine R. Beck
- , Yuji Okamoto
- , Tamar Harel
- , Zeynep H. C. Akdemir
- , Shalini N. Jhangiani
- , Marjorie A. Withers
- , Meryem Tuba Goksungur
- , Claudia M. B. Carvalho
- , Dirk Czesnik
- , Claudia Gonzaga-Jauregui
- , Wojciech Wiszniewski
- , Donna M. Muzny
- , Richard A. Gibbs
- , Bernd Rautenstrauss
- , Michael W. Sereda
- & James R. Lupski
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
- Claudia M B Carvalho
- , Melissa B Ramocki
- , Davut Pehlivan
- , Luis M Franco
- , Claudia Gonzaga-Jauregui
- , Ping Fang
- , Alanna McCall
- , Eniko Karman Pivnick
- , Stacy Hines-Dowell
- , Laurie H Seaver
- , Linda Friehling
- , Sansan Lee
- , Rosemarie Smith
- , Daniela del Gaudio
- , Marjorie Withers
- , Pengfei Liu
- , Sau Wai Cheung
- , John W Belmont
- , Huda Y Zoghbi
- , P J Hastings
- & James R Lupski
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Integrating common and rare genetic variation in diverse human populations
- David M. Altshuler
- , Richard A. Gibbs
- , Leena Peltonen
- , David M. Altshuler
- , Richard A. Gibbs
- , Leena Peltonen
- , Emmanouil Dermitzakis
- , Stephen F. Schaffner
- , Fuli Yu
- , Leena Peltonen
- , Emmanouil Dermitzakis
- , Penelope E. Bonnen
- , David M. Altshuler
- , Richard A. Gibbs
- , Paul I. W. de Bakker (Co-leader)
- , Panos Deloukas (Co-leader)
- , Stacey B. Gabriel
- , Rhian Gwilliam
- , Sarah Hunt
- , Michael Inouye (Co-leader)
- , Xiaoming Jia
- , Aarno Palotie
- , Melissa Parkin (Co-leader)
- , Pamela Whittaker
- , Fuli Yu (Leader)
- , Kyle Chang
- , Alicia Hawes
- , Lora R. Lewis
- , Yanru Ren
- , David Wheeler
- , Richard A. Gibbs
- , Donna Marie Muzny
- , Chris Barnes
- , Katayoon Darvishi
- , Matthew Hurles (Co-leader)
- , Joshua M. Korn
- , Kati Kristiansson
- , Charles Lee
- , Steven A. McCarroll (Co-leader)
- , James Nemesh
- , Emmanouil Dermitzakis
- , Alon Keinan (Leader)
- , Stephen B. Montgomery
- , Samuela Pollack
- , Alkes L. Price
- , Nicole Soranzo
- , Penelope E. Bonnen
- , Richard A. Gibbs
- , Claudia Gonzaga-Jauregui
- , Alon Keinan
- , Alkes L. Price
- , Fuli Yu (Leader)
- , Verneri Anttila
- , Wendy Brodeur
- , Mark J. Daly
- , Stephen Leslie
- , Gil McVean
- , Loukas Moutsianas
- , Huy Nguyen
- , Stephen F. Schaffner (Leader)
- , Qingrun Zhang
- , Mohammed J. R. Ghori
- , Ralph McGinnis (Co-leader)
- , William McLaren
- , Samuela Pollack
- , Alkes L. Price (Co-leader)
- , Stephen F. Schaffner (Co-leader)
- , Fumihiko Takeuchi
- , Sharon R. Grossman
- , Ilya Shlyakhter
- , Elizabeth B. Hostetter
- , Pardis C. Sabeti (Leader)
- , Clement A. Adebamowo
- , Morris W. Foster
- , Deborah R. Gordon
- , Julio Licinio
- , Maria Cristina Manca
- , Patricia A. Marshall
- , Ichiro Matsuda
- , Duncan Ngare
- , Vivian Ota Wang
- , Deepa Reddy
- , Charles N. Rotimi
- , Charmaine D. Royal
- , Richard R. Sharp
- , Changqing Zeng
- , Lisa D. Brooks
- & Jean E. McEwen
