Showing 1–43 of 43 results
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Amendments and Corrections |
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Genetic analyses of diverse populations improves discovery for complex traits
- Genevieve L. Wojcik
- , Mariaelisa Graff
- , Katherine K. Nishimura
- , Ran Tao
- , Jeffrey Haessler
- , Christopher R. Gignoux
- , Heather M. Highland
- , Yesha M. Patel
- , Elena P. Sorokin
- , Christy L. Avery
- , Gillian M. Belbin
- , Stephanie A. Bien
- , Iona Cheng
- , Sinead Cullina
- , Chani J. Hodonsky
- , Yao Hu
- , Laura M. Huckins
- , Janina Jeff
- , Anne E. Justice
- , Jonathan M. Kocarnik
- , Unhee Lim
- , Bridget M. Lin
- , Yingchang Lu
- , Sarah C. Nelson
- , Sung-Shim L. Park
- , Hannah Poisner
- , Michael H. Preuss
- , Melissa A. Richard
- , Claudia Schurmann
- , Veronica W. Setiawan
- , Alexandra Sockell
- , Karan Vahi
- , Marie Verbanck
- , Abhishek Vishnu
- , Ryan W. Walker
- , Kristin L. Young
- , Niha Zubair
- , Victor Acuña-Alonso
- , Jose Luis Ambite
- , Kathleen C. Barnes
- , Eric Boerwinkle
- , Erwin P. Bottinger
- , Carlos D. Bustamante
- , Christian Caberto
- , Samuel Canizales-Quinteros
- , Matthew P. Conomos
- , Ewa Deelman
- , Ron Do
- , Kimberly Doheny
- , Lindsay Fernández-Rhodes
- , Myriam Fornage
- , Benyam Hailu
- , Gerardo Heiss
- , Brenna M. Henn
- , Lucia A. Hindorff
- , Rebecca D. Jackson
- , Cecelia A. Laurie
- , Cathy C. Laurie
- , Yuqing Li
- , Dan-Yu Lin
- , Andres Moreno-Estrada
- , Girish Nadkarni
- , Paul J. Norman
- , Loreall C. Pooler
- , Alexander P. Reiner
- , Jane Romm
- , Chiara Sabatti
- , Karla Sandoval
- , Xin Sheng
- , Eli A. Stahl
- , Daniel O. Stram
- , Timothy A. Thornton
- , Christina L. Wassel
- , Lynne R. Wilkens
- , Cheryl A. Winkler
- , Sachi Yoneyama
- , Steven Buyske
- , Christopher A. Haiman
- , Charles Kooperberg
- , Loic Le Marchand
- , Ruth J. F. Loos
- , Tara C. Matise
- , Kari E. North
- , Ulrike Peters
- , Eimear E. Kenny
- & Christopher S. Carlson
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Research | | Open
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
- Michael D. Fountain
- , David S. Oleson
- , Megan E. Rech
- , Lara Segebrecht
- , Jill V. Hunter
- , John M. McCarthy
- , Philip J. Lupo
- , Manuel Holtgrewe
- , Rocio Moran
- , Jill A. Rosenfeld
- , Bertrand Isidor
- , Cédric Le Caignec
- , Margarita S. Saenz
- , Robert C. Pedersen
- , Thomas M. Morgan
- , Jean P. Pfotenhauer
- , Fan Xia
- , Weimin Bi
- , Sung-Hae L. Kang
- , Ankita Patel
- , Ian D. Krantz
- , Sarah E. Raible
- , Wendy Smith
- , Ingrid Cristian
- , Erin Torti
- , Jane Juusola
- , Francisca Millan
- , Ingrid M. Wentzensen
- , Richard E. Person
- , Sébastien Küry
- , Stéphane Bézieau
- , Kévin Uguen
- , Claude Férec
- , Arnold Munnich
- , Mieke van Haelst
- , Klaske D. Lichtenbelt
- , Koen van Gassen
- , Tanner Hagelstrom
- , Aditi Chawla
- , Denise L. Perry
- , Ryan J. Taft
- , Marilyn Jones
- , Diane Masser-Frye
- , David Dyment
- , Sunita Venkateswaran
- , Chumei Li
- , Luis F. Escobar
- , Denise Horn
- , Rebecca C. Spillmann
- , Loren Peña
- , Jolanta Wierzba
- , Tim M. Strom
- , Ilaria Parenti
- , Frank J. Kaiser
- , Nadja Ehmke
- & Christian P. Schaaf
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Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
- Christian P Schaaf
- , Philip M Boone
- , Srirangan Sampath
- , Charles Williams
- , Patricia I Bader
- , Jennifer M Mueller
- , Oleg A Shchelochkov
- , Chester W Brown
- , Heather P Crawford
- , James A Phalen
- , Nicole R Tartaglia
- , Patricia Evans
- , William M Campbell
- , Anne Chun-Hui Tsai
- , Lea Parsley
- , Stephanie W Grayson
- , Angela Scheuerle
- , Carol D Luzzi
- , Sandra K Thomas
- , Patricia A Eng
- , Sung-Hae L Kang
- , Ankita Patel
- , Pawel Stankiewicz
- & Sau W Cheung
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
- Sirisha Peddibhotla
- , Sandesh CS Nagamani
- , Ayelet Erez
- , Jill V Hunter
- , J Lloyd Holder Jr
- , Mary E Carlin
- , Patricia I Bader
- , Helene MF Perras
- , Judith E Allanson
- , Leslie Newman
- , Gayle Simpson
- , LaDonna Immken
- , Erin Powell
- , Aaron Mohanty
- , Sung-Hae L Kang
- , Pawel Stankiewicz
- , Carlos A Bacino
- , Weimin Bi
- , Ankita Patel
- & Sau W Cheung
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
- Trilochan Sahoo
- , Sau Wai Cheung
- , Patricia Ward
- , Sandra Darilek
- , Ankita Patel
- , Daniela del Gaudio
- , Sung Hae L Kang
- , Seema R Lalani
- , Jiangzhen Li
- , Sallie McAdoo
- , Audrey Burke
- , Chad A Shaw
- , Pawel Stankiewicz
- , A Craig Chinault
- , Ignatia B Van den Veyver
- , Benjamin B Roa
- , Arthur L Beaudet
- & Christine M Eng
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
- Nicola Brunetti-Pierri
- , Jonathan S Berg
- , Fernando Scaglia
- , John Belmont
- , Carlos A Bacino
- , Trilochan Sahoo
- , Seema R Lalani
- , Brett Graham
- , Brendan Lee
- , Marwan Shinawi
- , Joseph Shen
- , Sung-Hae L Kang
- , Amber Pursley
- , Timothy Lotze
- , Gail Kennedy
- , Susan Lansky-Shafer
- , Christine Weaver
- , Elizabeth R Roeder
- , Theresa A Grebe
- , Georgianne L Arnold
- , Terry Hutchison
- , Tyler Reimschisel
- , Stephen Amato
- , Michael T Geragthy
- , Jeffrey W Innis
- , Ewa Obersztyn
- , Beata Nowakowska
- , Sally S Rosengren
- , Patricia I Bader
- , Dorothy K Grange
- , Sayed Naqvi
- , Adolfo D Garnica
- , Saunder M Bernes
- , Chin-To Fong
- , Anne Summers
- , W David Walters
- , James R Lupski
- , Pawel Stankiewicz
- , Sau Wai Cheung
- & Ankita Patel
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New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation
- C Fabbri
- , K E Tansey
- , R H Perlis
- , J Hauser
- , N Henigsberg
- , W Maier
- , O Mors
- , A Placentino
- , M Rietschel
- , D Souery
- , G Breen
- , C Curtis
- , L Sang-Hyuk
- , S Newhouse
- , H Patel
- , M Guipponi
- , N Perroud
- , G Bondolfi
- , M O'Donovan
- , G Lewis
- , J M Biernacka
- , R M Weinshilboum
- , A Farmer
- , K J Aitchison
- , I Craig
- , P McGuffin
- , R Uher
- & C M Lewis
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- Anath C Lionel
- , Gregory Costain
- , Nasim Monfared
- , Susan Walker
- , Miriam S Reuter
- , S Mohsen Hosseini
- , Bhooma Thiruvahindrapuram
- , Daniele Merico
- , Rebekah Jobling
- , Thomas Nalpathamkalam
- , Giovanna Pellecchia
- , Wilson W L Sung
- , Zhuozhi Wang
- , Peter Bikangaga
- , Cyrus Boelman
- , Melissa T Carter
- , Dawn Cordeiro
- , Cheryl Cytrynbaum
- , Sharon D Dell
- , Priya Dhir
- , James J Dowling
- , Elise Heon
- , Stacy Hewson
- , Linda Hiraki
- , Michal Inbar-Feigenberg
- , Regan Klatt
- , Jonathan Kronick
- , Ronald M Laxer
- , Christoph Licht
- , Heather MacDonald
- , Saadet Mercimek-Andrews
- , Roberto Mendoza-Londono
- , Tino Piscione
- , Rayfel Schneider
- , Andreas Schulze
- , Earl Silverman
- , Komudi Siriwardena
- , O Carter Snead
- , Neal Sondheimer
- , Joanne Sutherland
- , Ajoy Vincent
- , Jonathan D Wasserman
- , Rosanna Weksberg
- , Cheryl Shuman
- , Chris Carew
- , Michael J Szego
- , Robin Z Hayeems
- , Raveen Basran
- , Dimitri J Stavropoulos
- , Peter N Ray
- , Sarah Bowdin
- , M Stephen Meyn
- , Ronald D Cohn
- , Stephen W Scherer
- & Christian R Marshall
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- Ryan K C Yuen
- , Daniele Merico
- , Matt Bookman
- , Jennifer L Howe
- , Bhooma Thiruvahindrapuram
- , Rohan V Patel
- , Joe Whitney
- , Nicole Deflaux
- , Jonathan Bingham
- , Zhuozhi Wang
- , Giovanna Pellecchia
- , Janet A Buchanan
- , Susan Walker
- , Christian R Marshall
- , Mohammed Uddin
- , Mehdi Zarrei
- , Eric Deneault
- , Lia D'Abate
- , Ada J S Chan
- , Stephanie Koyanagi
- , Tara Paton
- , Sergio L Pereira
- , Ny Hoang
- , Worrawat Engchuan
- , Edward J Higginbotham
- , Karen Ho
- , Sylvia Lamoureux
- , Weili Li
- , Jeffrey R MacDonald
- , Thomas Nalpathamkalam
- , Wilson W L Sung
- , Fiona J Tsoi
- , John Wei
- , Lizhen Xu
- , Anne-Marie Tasse
- , Emily Kirby
- , William Van Etten
- , Simon Twigger
- , Wendy Roberts
- , Irene Drmic
- , Sanne Jilderda
- , Bonnie MacKinnon Modi
- , Barbara Kellam
- , Michael Szego
- , Cheryl Cytrynbaum
- , Rosanna Weksberg
- , Lonnie Zwaigenbaum
- , Marc Woodbury-Smith
- , Jessica Brian
- , Lili Senman
- , Alana Iaboni
- , Krissy Doyle-Thomas
- , Ann Thompson
- , Christina Chrysler
- , Jonathan Leef
- , Tal Savion-Lemieux
- , Isabel M Smith
- , Xudong Liu
- , Rob Nicolson
- , Vicki Seifer
- , Angie Fedele
- , Edwin H Cook
- , Stephen Dager
- , Annette Estes
- , Louise Gallagher
- , Beth A Malow
- , Jeremy R Parr
- , Sarah J Spence
- , Jacob Vorstman
- , Brendan J Frey
- , James T Robinson
- , Lisa J Strug
- , Bridget A Fernandez
- , Mayada Elsabbagh
- , Melissa T Carter
- , Joachim Hallmayer
- , Bartha M Knoppers
- , Evdokia Anagnostou
- , Peter Szatmari
- , Robert H Ring
- , David Glazer
- , Mathew T Pletcher
- & Stephen W Scherer
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
- Seema R Lalani
- , Chad Shaw
- , Xueqing Wang
- , Ankita Patel
- , Lance W Patterson
- , Katarzyna Kolodziejska
- , Przemyslaw Szafranski
- , Zhishuo Ou
- , Qi Tian
- , Sung-Hae L Kang
- , Amina Jinnah
- , Sophia Ali
- , Aamir Malik
- , Patricia Hixson
- , Lorraine Potocki
- , James R Lupski
- , Pawel Stankiewicz
- , Carlos A Bacino
- , Brian Dawson
- , Arthur L Beaudet
- , Fatima M Boricha
- , Runako Whittaker
- , Chumei Li
- , Stephanie M Ware
- , Sau Wai Cheung
- , Daniel J Penny
- , John Lynn Jefferies
- & John W Belmont
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Research | | Open
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
- Joanna Wiszniewska
- , Weimin Bi
- , Chad Shaw
- , Pawel Stankiewicz
- , Sung-Hae L Kang
- , Amber N Pursley
- , Seema Lalani
- , Patricia Hixson
- , Tomasz Gambin
- , Chun-hui Tsai
- , Hans-Georg Bock
- , Maria Descartes
- , Frank J Probst
- , Fernando Scaglia
- , Arthur L Beaudet
- , James R Lupski
- , Christine Eng
- , Sau Wai Cheung
- , Carlos Bacino
- & Ankita Patel
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Research | | Open
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
- Jonathan S Berg
- , Nicola Brunetti-Pierri
- , Sarika U Peters
- , Sung-Hae L Kang
- , Chin-To Fong
- , Jessica Salamone
- , Debra Freedenberg
- , Vickie L Hannig
- , Lisa Albers Prock
- , David T Miller
- , Peter Raffalli
- , David J Harris
- , Robert P Erickson
- , Christopher Cunniff
- , Gary D Clark
- , Maria A Blazo
- , Daniel A Peiffer
- , Kevin L Gunderson
- , Trilochan Sahoo
- , Ankita Patel
- , James R Lupski
- , Arthur L Beaudet
- & Sau Wai Cheung
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| Open
High sustained efficacy of a prophylactic quadrivalent human papillomavirus types 6/11/16/18 L1 virus-like particle vaccine through 5 years of follow-up
- L L Villa
- , R L R Costa
- , C A Petta
- , R P Andrade
- , J Paavonen
- , O-E Iversen
- , S-E Olsson
- , J Høye
- , M Steinwall
- , G Riis-Johannessen
- , A Andersson-Ellstrom
- , K Elfgren
- , G von Krogh
- , M Lehtinen
- , C Malm
- , G M Tamms
- , K Giacoletti
- , L Lupinacci
- , R Railkar
- , F J Taddeo
- , J Bryan
- , M T Esser
- , H L Sings
- , A J Saah
- & E Barr
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