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Research | | Open
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
- M N Loviglio
- , M Leleu
- , K Männik
- , M Passeggeri
- , G Giannuzzi
- , I van der Werf
- , S M Waszak
- , M Zazhytska
- , I Roberts-Caldeira
- , N Gheldof
- , E Migliavacca
- , A A Alfaiz
- , L Hippolyte
- , A M Maillard
- , Maria Nicla Loviglio
- , Katrin Männik
- , Ilse van der Werf
- , Giuliana Giannuzzi
- , Marianna Zazhytska
- , Nele Gheldof
- , Eugenia Migliavacca
- , Ali A Alfaiz
- , Inês Roberts-Caldeira
- , Loyse Hippolyte
- , Anne M Maillard
- , Alessandra Ferrarini
- , Florence Niel Butschi
- , Bernard Conrad
- , Marie-Claude Addor
- , Marco Belfiore
- , Katharina Roetzer
- , Anke Van Dijck
- , Bettina Blaumeiser
- , Frank Kooy
- , Filip Roelens
- , Annelies Dheedene
- , Barbara Delle Chiaie
- , Björn Menten
- , Ann Oostra
- , Jean-Hubert Caberg
- , Melissa Carter
- , Barbara Kellam
- , Dimitri J Stavropoulos
- , Christian Marshall
- , Stephen W Scherer
- , Rosanna Weksberg
- , Cheryl Cytrynbaum
- , Anne Bassett
- , Chelsea Lowther
- , Jane Gillis
- , Sara MacKay
- , Iben Bache
- , Lilian B Ousager
- , Maja Patricia Smerdel
- , Jesper Graakjaer
- , Susanne Kjaergaard
- , Andres Metspalu
- , Michele Mathieu
- , Dominique Bonneau
- , Agnes Guichet
- , Philippe Parent
- , Claude Férec
- , Marion Gerard
- , Ghislaine Plessis
- , James Lespinasse
- , Alice Masurel
- , Nathalie Marle
- , Laurence Faivre
- , Patrick Callier
- , Valerie Layet
- , Nathalie Le Meur
- , Céline Le Goff
- , Bénédicte Duban-Bedu
- , Sylvie Sukno
- , Odile Boute
- , Joris Andrieux
- , Patricia Blanchet
- , David Geneviève
- , Jacques Puechberty
- , Anouck Schneider
- , Bruno Leheup
- , Philippe Jonveaux
- , Sandra Mercier
- , Albert David
- , Cédric Le Caignec
- , Loic de Pontual
- , Eva Pipiras
- , Aurelia Jacquette
- , Boris Keren
- , Brigitte Gilbert-Dussardier
- , Frederic Bilan
- , Alice Goldenberg
- , Pascal Chambon
- , Annick Toutain
- , Marianne Till
- , Damien Sanlaville
- , Barbara Leube
- , Brigitte Royer-Pokora
- , Hans Jörgen Grabe
- , Carsten Oliver Schmidt
- , Claudia Schurmann
- , Georg Homuth
- , Gudmar Thorleifsson
- , Unnur Thorsteinsdottir
- , Laura Bernardini
- , Antonio Novelli
- , Lucia Micale
- , Giuseppe Merla
- , Marcella Zollino
- , Francesca Mari
- , Caterina Lo Rizzo
- , Alessandra Renieri
- , Margherita Silengo
- , Anneke T Vulto-van Silfhout
- , Meyke Schouten
- , Rolph Pfundt
- , Nicole de Leeuw
- , Fleur Vansenne
- , Saskia M Maas
- , Daniela QCM Barge-Schaapveld
- , Alida C Knegt
- , Barbro Stadheim
- , Olaug Rodningen
- , Gunnar Houge
- , Sue Price
- , Lara Hawkes
- , Carolyn Campbell
- , Usha Kini
- , Julie Vogt
- , Robin Walters
- , Alexandra Blakemore
- , James F Gusella
- , Yiping Shen
- , Daryl Scott
- , Carlos A Bacino
- , Karen Tsuchiya
- , Roger Ladda
- , Susan Sell
- , Alexander Asamoah
- , Aline I Hamati
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Elyse Mitchell
- , Jennelle C Hodge
- , Jacques S Beckmann
- , Sébastien Jacquemont
- , Alexandre Reymond
- , Alexandre Reymond
- , Lisa J Ewans
- , David Mowat
- , Jan Walker
- , David J Amor
- , Hilde Van Esch
- , Patricia Leroy
- , Jean-Hubert Caberg
- , John-Steven Bamforth
- , Deepti Babu
- , Marianne Till
- , Damien Sanlaville
- , David Geneviève
- , Jacques Puechberty
- , Bertrand Isidor
- , Nataliya DiDonato
- , Karl Hackmann
- , Marzia Passeggeri
- , Arie van Haeringen
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Rosemarie Smith
- , Sara Ellingwood
- , Darren M Farber
- , Vinay Puri
- , Neda Zadeh
- , David D Weaver
- , Mandy Miller
- , Timothy Wilks
- , Carolina J Jorgez
- , DeeDee Lafayette
- , Sébastien Jacquemont
- , A Van Dijck
- , R F Kooy
- , D Sanlaville
- , J A Rosenfeld
- , L G Shaffer
- , J Andrieux
- , C Marshall
- , S W Scherer
- , Y Shen
- , J F Gusella
- , U Thorsteinsdottir
- , G Thorleifsson
- , E T Dermitzakis
- , B Deplancke
- , J S Beckmann
- , J Rougemont
- , S Jacquemont
- & A Reymond
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Amendments and Corrections | | Open
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Tianyun Wang
- , Kendra Hoekzema
- , Davide Vecchio
- , Huidan Wu
- , Arvis Sulovari
- , Bradley P. Coe
- , Madelyn A. Gillentine
- , Amy B. Wilfert
- , Luis A. Perez-Jurado
- , Malin Kvarnung
- , Yoeri Sleyp
- , Rachel K. Earl
- , Jill A. Rosenfeld
- , Madeleine R. Geisheker
- , Lin Han
- , Bing Du
- , Chris Barnett
- , Elizabeth Thompson
- , Marie Shaw
- , Renee Carroll
- , Kathryn Friend
- , Rachael Catford
- , Elizabeth E. Palmer
- , Xiaobing Zou
- , Jianjun Ou
- , Honghui Li
- , Hui Guo
- , Jennifer Gerdts
- , Emanuela Avola
- , Giuseppe Calabrese
- , Maurizio Elia
- , Donatella Greco
- , Anna Lindstrand
- , Ann Nordgren
- , Britt-Marie Anderlid
- , Geert Vandeweyer
- , Anke Van Dijck
- , Nathalie Van der Aa
- , Brooke McKenna
- , Miroslava Hancarova
- , Sarka Bendova
- , Marketa Havlovicova
- , Giovanni Malerba
- , Bernardo Dalla Bernardina
- , Pierandrea Muglia
- , Arie van Haeringen
- , Mariette J. V. Hoffer
- , Barbara Franke
- , Gerarda Cappuccio
- , Martin Delatycki
- , Paul J. Lockhart
- , Melanie A. Manning
- , Pengfei Liu
- , Ingrid E. Scheffer
- , Nicola Brunetti-Pierri
- , Nanda Rommelse
- , David G. Amaral
- , Gijs W. E. Santen
- , Elisabetta Trabetti
- , Zdeněk Sedláček
- , Jacob J. Michaelson
- , Karen Pierce
- , Eric Courchesne
- , R. Frank Kooy
- , John Acampado
- , Andrea J. Ace
- , Alpha Amatya
- , Irina Astrovskaya
- , Asif Bashar
- , Elizabeth Brooks
- , Martin E. Butler
- , Lindsey A. Cartner
- , Wubin Chin
- , Wendy K. Chung
- , Amy M. Daniels
- , Pamela Feliciano
- , Chris Fleisch
- , Swami Ganesan
- , William Jensen
- , Alex E. Lash
- , Richard Marini
- , Vincent J. Myers
- , Eirene O’Connor
- , Chris Rigby
- , Beverly E. Robertson
- , Neelay Shah
- , Swapnil Shah
- , Emily Singer
- , LeeAnne G. Snyder
- , Alexandra N. Stephens
- , Jennifer Tjernagel
- , Brianna M. Vernoia
- , Natalia Volfovsky
- , Loran Casey White
- , Alexander Hsieh
- , Yufeng Shen
- , Xueya Zhou
- , Tychele N. Turner
- , Ethan Bahl
- , Taylor R. Thomas
- , Leo Brueggeman
- , Tanner Koomar
- , Jacob J. Michaelson
- , Brian J. O’Roak
- , Rebecca A. Barnard
- , Richard A. Gibbs
- , Donna Muzny
- , Aniko Sabo
- , Kelli L. Baalman Ahmed
- , Evan E. Eichler
- , Matthew Siegel
- , Leonard Abbeduto
- , David G. Amaral
- , Brittani A. Hilscher
- , Deana Li
- , Kaitlin Smith
- , Samantha Thompson
- , Charles Albright
- , Eric M. Butter
- , Sara Eldred
- , Nathan Hanna
- , Mark Jones
- , Daniel Lee Coury
- , Jessica Scherr
- , Taylor Pifher
- , Erin Roby
- , Brandy Dennis
- , Lorrin Higgins
- , Melissa Brown
- , Michael Alessandri
- , Anibal Gutierrez
- , Melissa N. Hale
- , Lynette M. Herbert
- , Hoa Lam Schneider
- , Giancarla David
- , Robert D. Annett
- , Dustin E. Sarver
- , Ivette Arriaga
- , Alexies Camba
- , Amanda C. Gulsrud
- , Monica Haley
- , James T. McCracken
- , Sophia Sandhu
- , Maira Tafolla
- , Wha S. Yang
- , Laura A. Carpenter
- , Catherine C. Bradley
- , Frampton Gwynette
- , Patricia Manning
- , Rebecca Shaffer
- , Carrie Thomas
- , Raphael A. Bernier
- , Emily A. Fox
- , Jennifer A. Gerdts
- , Micah Pepper
- , Theodore Ho
- , Daniel Cho
- , Joseph Piven
- , Holly Lechniak
- , Latha V. Soorya
- , Rachel Gordon
- , Allison Wainer
- , Lisa Yeh
- , Cesar Ochoa-Lubinoff
- , Nicole Russo
- , Elizabeth Berry-Kravis
- , Stephanie Booker
- , Craig A. Erickson
- , Lisa M. Prock
- , Katherine G. Pawlowski
- , Emily T. Matthews
- , Stephanie J. Brewster
- , Margaret A. Hojlo
- , Evi Abada
- , Elena Lamarche
- , Tianyun Wang
- , Shwetha C. Murali
- , William T. Harvey
- , Hannah E. Kaplan
- , Karen L. Pierce
- , Lindsey DeMarco
- , Susannah Horner
- , Juhi Pandey
- , Samantha Plate
- , Mustafa Sahin
- , Katherine D. Riley
- , Erin Carmody
- , Julia Constantini
- , Amy Esler
- , Ali Fatemi
- , Hanna Hutter
- , Rebecca J. Landa
- , Alexander P. McKenzie
- , Jason Neely
- , Vini Singh
- , Bonnie Van Metre
- , Ericka L. Wodka
- , Eric J. Fombonne
- , Lark Y. Huang-Storms
- , Lillian D. Pacheco
- , Sarah A. Mastel
- , Leigh A. Coppola
- , Sunday Francis
- , Andrea Jarrett
- , Suma Jacob
- , Natasha Lillie
- , Jaclyn Gunderson
- , Dalia Istephanous
- , Laura Simon
- , Ori Wasserberg
- , Angela L. Rachubinski
- , Cordelia R. Rosenberg
- , Stephen M. Kanne
- , Amanda D. Shocklee
- , Nicole Takahashi
- , Shelby L. Bridwell
- , Rebecca L. Klimczac
- , Melissa A. Mahurin
- , Hannah E. Cotrell
- , Cortaiga A. Grant
- , Samantha G. Hunter
- , Christa Lese Martin
- , Cora M. Taylor
- , Lauren K. Walsh
- , Katherine A. Dent
- , Andrew Mason
- , Anthony Sziklay
- , Christopher J. Smith
- , Magnus Nordenskjöld
- , Corrado Romano
- , Hilde Peeters
- , Raphael A. Bernier
- , Jozef Gecz
- , Kun Xia
- & Evan E. Eichler
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Research | | Open
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- Sacha Ferdinandusse
- , Kirsty McWalter
- , Heleen te Brinke
- , Lodewijk IJlst
- , Petra M. Mooijer
- , Jos P. N. Ruiter
- , Alida E. M. van Lint
- , Mia Pras-Raves
- , Eric Wever
- , Francisca Millan
- , Maria J. Guillen Sacoto
- , Amber Begtrup
- , Mark Tarnopolsky
- , Lauren Brady
- , Roger L. Ladda
- , Susan L. Sell
- , Catherine B. Nowak
- , Jessica Douglas
- , Cuixia Tian
- , Elizabeth Ulm
- , Seth Perlman
- , Arlene V. Drack
- , Karen Chong
- , Nicole Martin
- , Jennifer Brault
- , Elly Brokamp
- , Camilo Toro
- , William A. Gahl
- , Ellen F. Macnamara
- , Lynne Wolfe
- , Mercedes E. Alejandro
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Lindsay C. Burrage
- , Hsiao-Tuan Chao
- , Gary D. Clark
- , William J. Craigen
- , Hongzheng Dai
- , Shweta U. Dhar
- , Lisa T. Emrick
- , Alica M. Goldman
- , Neil A. Hanchard
- , Fariha Jamal
- , Lefkothea Karaviti
- , Seema R. Lalani
- , Brendan H. Lee
- , Richard A. Lewis
- , Ronit Marom
- , Paolo M. Moretti
- , David R. Murdock
- , Sarah K. Nicholas
- , James P. Orengo
- , Jennifer E. Posey
- , Lorraine Potocki
- , Jill A. Rosenfeld
- , Susan L. Samson
- , Daryl A. Scott
- , Alyssa A. Tran
- , Tiphanie P. Vogel
- , Michael F. Wangler
- , Shinya Yamamoto
- , Christine M. Eng
- , Pengfei Liu
- , Patricia A. Ward
- , Edward Behrens
- , Matthew Deardorff
- , Marni Falk
- , Kelly Hassey
- , Kathleen Sullivan
- , Adeline Vanderver
- , David B. Goldstein
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Kelly Schoch
- , Vandana Shashi
- , Edward C. Smith
- , Rebecca C. Spillmann
- , Jennifer A. Sullivan
- , Queenie K.-G. Tan
- , Nicole M. Walley
- , Pankaj B. Agrawal
- , Alan H. Beggs
- , Gerard T. Berry
- , Lauren C. Briere
- , Laurel A. Cobban
- , Matthew Coggins
- , Cynthia M. Cooper
- , Elizabeth L. Fieg
- , Frances High
- , Ingrid A. Holm
- , Susan Korrick
- , Joel B. Krier
- , Sharyn A. Lincoln
- , Joseph Loscalzo
- , Richard L. Maas
- , Calum A. MacRae
- , J. Carl Pallais
- , Deepak A. Rao
- , Lance H. Rodan
- , Edwin K. Silverman
- , Joan M. Stoler
- , David A. Sweetser
- , Melissa Walker
- , Chris A. Walsh
- , Cecilia Esteves
- , Emily G. Kelley
- , Isaac S. Kohane
- , Kimberly LeBlanc
- , Alexa T. McCray
- , Anna Nagy
- , Surendra Dasari
- , Brendan C. Lanpher
- , Ian R. Lanza
- , Eva Morava
- , Devin Oglesbee
- , Guney Bademci
- , Deborah Barbouth
- , Stephanie Bivona
- , Olveen Carrasquillo
- , Ta Chen Peter Chang
- , Irman Forghani
- , Alana Grajewski
- , Rosario Isasi
- , Byron Lam
- , Roy Levitt
- , Xue Zhong Liu
- , Jacob McCauley
- , Ralph Sacco
- , Mario Saporta
- , Judy Schaechter
- , Mustafa Tekin
- , Fred Telischi
- , Willa Thorson
- , Stephan Zuchner
- , Heather A. Colley
- , Jyoti G. Dayal
- , David J. Eckstein
- , Laurie C. Findley
- , Donna M. Krasnewich
- , Laura A. Mamounas
- , Teri A. Manolio
- , John J. Mulvihill
- , Grace L. LaMoure
- , Madison P. Goldrich
- , Tiina K. Urv
- , Argenia L. Doss
- , Maria T. Acosta
- , Carsten Bonnenmann
- , Precilla D’Souza
- , David D. Draper
- , Carlos Ferreira
- , Rena A. Godfrey
- , Catherine A. Groden
- , Ellen F. Macnamara
- , Valerie V. Maduro
- , Thomas C. Markello
- , Avi Nath
- , Donna Novacic
- , Barbara N. Pusey
- , Camilo Toro
- , Colleen E. Wahl
- , Eva Baker
- , Elizabeth A. Burke
- , David R. Adams
- , William A. Gahl
- , May Christine V. Malicdan
- , Cynthia J. Tifft
- , Lynne A. Wolfe
- , John Yang
- , Bradley Power
- , Bernadette Gochuico
- , Laryssa Huryn
- , Lea Latham
- , Joie Davis
- , Deborah Mosbrook-Davis
- , Francis Rossignol
- , Ben Solomon
- , John MacDowall
- , Audrey Thurm
- , Wadih Zein
- , Muhammad Yousef
- , Margaret Adam
- , Laura Amendola
- , Michael Bamshad
- , Anita Beck
- , Jimmy Bennett
- , Beverly Berg-Rood
- , Elizabeth Blue
- , Brenna Boyd
- , Peter Byers
- , Sirisak Chanprasert
- , Michael Cunningham
- , Katrina Dipple
- , Daniel Doherty
- , Dawn Earl
- , Ian Glass
- , Katie Golden-Grant
- , Sihoun Hahn
- , Anne Hing
- , Fuki M. Hisama
- , Martha Horike-Pyne
- , Gail P. Jarvik
- , Jeffrey Jarvik
- , Suman Jayadev
- , Christina Lam
- , Kenneth Maravilla
- , Heather Mefford
- , J. Lawrence Merritt
- , Ghayda Mirzaa
- , Deborah Nickerson
- , Wendy Raskind
- , Natalie Rosenwasser
- , C. Ron Scott
- , Angela Sun
- , Virginia Sybert
- , Stephanie Wallace
- , Mark Wener
- , Tara Wenger
- , Euan A. Ashley
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Devon Bonner
- , Terra R. Coakley
- , Liliana Fernandez
- , Paul G. Fisher
- , Laure Fresard
- , Jason Hom
- , Yong Huang
- , Jennefer N. Kohler
- , Elijah Kravets
- , Marta M. Majcherska
- , Beth A. Martin
- , Shruti Marwaha
- , Colleen E. McCormack
- , Archana N. Raja
- , Chloe M. Reuter
- , Maura Ruzhnikov
- , Jacinda B. Sampson
- , Kevin S. Smith
- , Shirley Sutton
- , Holly K. Tabor
- , Brianna M. Tucker
- , Matthew T. Wheeler
- , Diane B. Zastrow
- , Chunli Zhao
- , William E. Byrd
- , Andrew B. Crouse
- , Matthew Might
- , Mariko Nakano-Okuno
- , Jordan Whitlock
- , Gabrielle Brown
- , Manish J. Butte
- , Esteban C. Dell’Angelica
- , Naghmeh Dorrani
- , Emilie D. Douine
- , Brent L. Fogel
- , Irma Gutierrez
- , Alden Huang
- , Deborah Krakow
- , Hane Lee
- , Sandra K. Loo
- , Bryan C. Mak
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Elisabeth McGee
- , Stanley F. Nelson
- , Shirley Nieves-Rodriguez
- , Christina G. S. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Genecee Renteria
- , Rebecca H. Signer
- , Janet S. Sinsheimer
- , Jijun Wan
- , Lee-kai Wang
- , Katherine Wesseling Perry
- , Jeremy D. Woods
- , Justin Alvey
- , Ashley Andrews
- , Jim Bale
- , John Bohnsack
- , Lorenzo Botto
- , John Carey
- , Laura Pace
- , Nicola Longo
- , Gabor Marth
- , Paolo Moretti
- , Aaron Quinlan
- , Matt Velinder
- , Dave Viskochil
- , Pinar Bayrak-Toydemir
- , Rong Mao
- , Monte Westerfield
- , Anna Bican
- , Elly Brokamp
- , Laura Duncan
- , Rizwan Hamid
- , Jennifer Kennedy
- , Mary Kozuira
- , John H. Newman
- , John A. Phillips III
- , Lynette Rives
- , Amy K. Robertson
- , Emily Solem
- , Joy D. Cogan
- , F. Sessions Cole
- , Nichole Hayes
- , Dana Kiley
- , Kathy Sisco
- , Jennifer Wambach
- , Daniel Wegner
- , Dustin Baldridge
- , Stephen Pak
- , Timothy Schedl
- , Jimann Shin
- , Lilianna Solnica-Krezel
- , Quinten Waisfisz
- , Petra J. G. Zwijnenburg
- , Alban Ziegler
- , Magalie Barth
- , Rosemarie Smith
- , Sara Ellingwood
- , Deborah Gaebler-Spira
- , Somayeh Bakhtiari
- , Michael C. Kruer
- , Antoine H. C. van Kampen
- , Ronald J. A. Wanders
- , Hans R. Waterham
- , David Cassiman
- & Frédéric M. Vaz
-
Amendments and Corrections |
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
- Alexandria T. M. Blackburn
- , Nasim Bekheirnia
- , Vanessa C. Uma
- , Mark E. Corkins
- , Yuxiao Xu
- , Jill A. Rosenfeld
- , Matthew N. Bainbridge
- , Yaping Yang
- , Pengfei Liu
- , Suneeta Madan-Khetarpal
- , Mauricio R. Delgado
- , Louanne Hudgins
- , Ian Krantz
- , David Rodriguez-Buritica
- , Patricia G. Wheeler
- , Lihadh Al-Gazali
- , Aisha Mohamed Saeed Mohamed Al Shamsi
- , Natalia Gomez-Ospina
- , Hsiao-Tuan Chao
- , Ghayda M. Mirzaa
- , Angela E. Scheuerle
- , Mary K. Kukolich
- , Fernando Scaglia
- , Christine Eng
- , Helen Rankin Willsey
- , Michael C. Braun
- , Dolores J. Lamb
- , Rachel K. Miller
- & Mir Reza Bekheirnia
-
Research |
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
- Kelly Schoch
- , Cecilia Esteves
- , Anna Bican
- , Rebecca Spillmann
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Nicole Walley
- , Liliana Fernandez
- , Jennefer N. Kohler
- , Devon Bonner
- , Chloe Reuter
- , Nicholas Stong
- , John J. Mulvihill
- , Donna Novacic
- , Lynne Wolfe
- , Ayat Abdelbaki
- , Camilo Toro
- , Cyndi Tifft
- , May Malicdan
- , William Gahl
- , Pengfei Liu
- , John Newman
- , David B. Goldstein
- , Jason Hom
- , Jacinda Sampson
- , Matthew T. Wheeler
- , Mercedes E. Alejandro
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Lindsay C. Burrage
- , Hsiao-Tuan Chao
- , Gary D. Clark
- , William J. Craigen
- , Hongzheng Dai
- , Shweta U. Dhar
- , Lisa T. Emrick
- , Alica M. Goldman
- , Neil A. Hanchard
- , Fariha Jamal
- , Lefkothea Karaviti
- , Seema R. Lalani
- , Brendan H. Lee
- , Richard A. Lewis
- , Ronit Marom
- , Paolo M. Moretti
- , David R. Murdock
- , Sarah K. Nicholas
- , James P. Orengo
- , Jennifer E. Posey
- , Lorraine Potocki
- , Jill A. Rosenfeld
- , Susan L. Samson
- , Daryl A. Scott
- , Alyssa A. Tran
- , Tiphanie P. Vogel
- , Michael F. Wangler
- , Shinya Yamamoto
- , Christine M. Eng
- , Pengfei Liu
- , Patricia A. Ward
- , Edward Behrens
- , Matthew Deardorff
- , Marni Falk
- , Kelly Hassey
- , Kathleen Sullivan
- , Adeline Vanderver
- , David B. Goldstein
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Kelly Schoch
- , Vandana Shashi
- , Edward C. Smith
- , Rebecca C. Spillmann
- , Jennifer A. Sullivan
- , Queenie K.-G. Tan
- , Nicole M. Walley
- , Pankaj B. Agrawal
- , Alan H. Beggs
- , Gerard T. Berry
- , Lauren C. Briere
- , Laurel A. Cobban
- , Matthew Coggins
- , Cynthia M. Cooper
- , Elizabeth L. Fieg
- , Frances High
- , Ingrid A. Holm
- , Susan Korrick
- , Joel B. Krier
- , Sharyn A. Lincoln
- , Joseph Loscalzo
- , Richard L. Maas
- , Calum A. MacRae
- , J. Carl Pallais
- , Deepak A. Rao
- , Lance H. Rodan
- , Edwin K. Silverman
- , Joan M. Stoler
- , David A. Sweetser
- , Melissa Walker
- , Chris A. Walsh
- , Cecilia Esteves
- , Emily G. Kelley
- , Isaac S. Kohane
- , Kimberly LeBlanc
- , Alexa T. McCray
- , Anna Nagy
- , Surendra Dasari
- , Brendan C. Lanpher
- , Ian R. Lanza
- , Eva Morava
- , Devin Oglesbee
- , Guney Bademci
- , Deborah Barbouth
- , Stephanie Bivona
- , Olveen Carrasquillo
- , Ta Chen Peter Chang
- , Irman Forghani
- , Alana Grajewski
- , Rosario Isasi
- , Byron Lam
- , Roy Levitt
- , Xue Zhong Liu
- , Jacob McCauley
- , Ralph Sacco
- , Mario Saporta
- , Judy Schaechter
- , Mustafa Tekin
- , Fred Telischi
- , Willa Thorson
- , Stephan Zuchner
- , Heather A. Colley
- , Jyoti G. Dayal
- , David J. Eckstein
- , Laurie C. Findley
- , Donna M. Krasnewich
- , Laura A. Mamounas
- , Teri A. Manolio
- , John J. Mulvihill
- , Grace L. LaMoure
- , Madison P. Goldrich
- , Tiina K. Urv
- , Argenia L. Doss
- , Maria T. Acosta
- , Carsten Bonnenmann
- , Precilla D’Souza
- , David D. Draper
- , Carlos Ferreira
- , Rena A. Godfrey
- , Catherine A. Groden
- , Ellen F. Macnamara
- , Valerie V. Maduro
- , Thomas C. Markello
- , Avi Nath
- , Donna Novacic
- , Barbara N. Pusey
- , Camilo Toro
- , Colleen E. Wahl
- , Eva Baker
- , Elizabeth A. Burke
- , David R. Adams
- , William A. Gahl
- , May Christine V. Malicdan
- , Cynthia J. Tifft
- , Lynne A. Wolfe
- , John Yang
- , Bradley Power
- , Bernadette Gochuico
- , Laryssa Huryn
- , Lea Latham
- , Joie Davis
- , Deborah Mosbrook-Davis
- , Francis Rossignol
- , Ben Solomon
- , John MacDowall
- , Audrey Thurm
- , Wadih Zein
- , Muhammad Yousef
- , Margaret Adam
- , Laura Amendola
- , Michael Bamshad
- , Anita Beck
- , Jimmy Bennett
- , Beverly Berg-Rood
- , Elizabeth Blue
- , Brenna Boyd
- , Peter Byers
- , Sirisak Chanprasert
- , Michael Cunningham
- , Katrina Dipple
- , Daniel Doherty
- , Dawn Earl
- , Ian Glass
- , Katie Golden-Grant
- , Sihoun Hahn
- , Anne Hing
- , Fuki M. Hisama
- , Martha Horike-Pyne
- , Gail P. Jarvik
- , Jeffrey Jarvik
- , Suman Jayadev
- , Christina Lam
- , Kenneth Maravilla
- , Heather Mefford
- , J. Lawrence Merritt
- , Ghayda Mirzaa
- , Deborah Nickerson
- , Wendy Raskind
- , Natalie Rosenwasser
- , C. Ron Scott
- , Angela Sun
- , Virginia Sybert
- , Stephanie Wallace
- , Mark Wener
- , Tara Wenger
- , Euan A. Ashley
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Devon Bonner
- , Terra R. Coakley
- , Liliana Fernandez
- , Paul G. Fisher
- , Laure Fresard
- , Jason Hom
- , Yong Huang
- , Jennefer N. Kohler
- , Elijah Kravets
- , Marta M. Majcherska
- , Beth A. Martin
- , Shruti Marwaha
- , Colleen E. McCormack
- , Archana N. Raja
- , Chloe M. Reuter
- , Maura Ruzhnikov
- , Jacinda B. Sampson
- , Kevin S. Smith
- , Shirley Sutton
- , Holly K. Tabor
- , Brianna M. Tucker
- , Matthew T. Wheeler
- , Diane B. Zastrow
- , Chunli Zhao
- , William E. Byrd
- , Andrew B. Crouse
- , Matthew Might
- , Mariko Nakano-Okuno
- , Jordan Whitlock
- , Gabrielle Brown
- , Manish J. Butte
- , Esteban C. Dell’Angelica
- , Naghmeh Dorrani
- , Emilie D. Douine
- , Brent L. Fogel
- , Irma Gutierrez
- , Alden Huang
- , Deborah Krakow
- , Hane Lee
- , Sandra K. Loo
- , Bryan C. Mak
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Elisabeth McGee
- , Stanley F. Nelson
- , Shirley Nieves-Rodriguez
- , Christina G. S. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Genecee Renteria
- , Rebecca H. Signer
- , Janet S. Sinsheimer
- , Jijun Wan
- , Lee-kai Wang
- , Katherine Wesseling Perry
- , Jeremy D. Woods
- , Justin Alvey
- , Ashley Andrews
- , Jim Bale
- , John Bohnsack
- , Lorenzo Botto
- , John Carey
- , Laura Pace
- , Nicola Longo
- , Gabor Marth
- , Paolo Moretti
- , Aaron Quinlan
- , Matt Velinder
- , Dave Viskochil
- , Pinar Bayrak-Toydemir
- , Rong Mao
- , Monte Westerfield
- , Anna Bican
- , Elly Brokamp
- , Laura Duncan
- , Rizwan Hamid
- , Jennifer Kennedy
- , Mary Kozuira
- , John H. Newman
- , John A. Phillips III
- , Lynette Rives
- , Amy K. Robertson
- , Emily Solem
- , Joy D. Cogan
- , F. Sessions Cole
- , Nichole Hayes
- , Dana Kiley
- , Kathy Sisco
- , Jennifer Wambach
- , Daniel Wegner
- , Dustin Baldridge
- , Stephen Pak
- , Timothy Schedl
- , Jimann Shin
- , Lilianna Solnica-Krezel
- , Joy Cogan
- , Jonathan A. Bernstein
- , David R. Adams
- , Alexa T. McCray
- & Vandana Shashi
-
Amendments and Corrections |
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
- Mathilde Nizon
- , Vincent Laugel
- , Kevin M. Flanigan
- , Matthew Pastore
- , Megan A. Waldrop
- , Jill A. Rosenfeld
- , Ronit Marom
- , Rui Xiao
- , Amanda Gerard
- , Olivier Pichon
- , Cédric Le Caignec
- , Marion Gérard
- , Klaus Dieterich
- , Megan Truitt Cho
- , Kirsty McWalter
- , Susan Hiatt
- , Michelle L. Thompson
- , Stéphane Bézieau
- , Alexandrea Wadley
- , Klaas J. Wierenga
- , Jean-Marc Egly
- & Bertrand Isidor
-
Research | | Open
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Tianyun Wang
- , Kendra Hoekzema
- , Davide Vecchio
- , Huidan Wu
- , Arvis Sulovari
- , Bradley P. Coe
- , Madelyn A. Gillentine
- , Amy B. Wilfert
- , Luis A. Perez-Jurado
- , Malin Kvarnung
- , Yoeri Sleyp
- , Rachel K. Earl
- , Jill A. Rosenfeld
- , Madeleine R. Geisheker
- , Lin Han
- , Bing Du
- , Chris Barnett
- , Elizabeth Thompson
- , Marie Shaw
- , Renee Carroll
- , Kathryn Friend
- , Rachael Catford
- , Elizabeth E. Palmer
- , Xiaobing Zou
- , Jianjun Ou
- , Honghui Li
- , Hui Guo
- , Jennifer Gerdts
- , Emanuela Avola
- , Giuseppe Calabrese
- , Maurizio Elia
- , Donatella Greco
- , Anna Lindstrand
- , Ann Nordgren
- , Britt-Marie Anderlid
- , Geert Vandeweyer
- , Anke Van Dijck
- , Nathalie Van der Aa
- , Brooke McKenna
- , Miroslava Hancarova
- , Sarka Bendova
- , Marketa Havlovicova
- , Giovanni Malerba
- , Bernardo Dalla Bernardina
- , Pierandrea Muglia
- , Arie van Haeringen
- , Mariette J. V. Hoffer
- , Barbara Franke
- , Gerarda Cappuccio
- , Martin Delatycki
- , Paul J. Lockhart
- , Melanie A. Manning
- , Pengfei Liu
- , Ingrid E. Scheffer
- , Nicola Brunetti-Pierri
- , Nanda Rommelse
- , David G. Amaral
- , Gijs W. E. Santen
- , Elisabetta Trabetti
- , Zdeněk Sedláček
- , Jacob J. Michaelson
- , Karen Pierce
- , Eric Courchesne
- , R. Frank Kooy
- , John Acampado
- , Andrea J. Ace
- , Alpha Amatya
- , Irina Astrovskaya
- , Asif Bashar
- , Elizabeth Brooks
- , Martin E. Butler
- , Lindsey A. Cartner
- , Wubin Chin
- , Wendy K. Chung
- , Amy M. Daniels
- , Pamela Feliciano
- , Chris Fleisch
- , Swami Ganesan
- , William Jensen
- , Alex E. Lash
- , Richard Marini
- , Vincent J. Myers
- , Eirene O’Connor
- , Chris Rigby
- , Beverly E. Robertson
- , Neelay Shah
- , Swapnil Shah
- , Emily Singer
- , LeeAnne G. Snyder
- , Alexandra N. Stephens
- , Jennifer Tjernagel
- , Brianna M. Vernoia
- , Natalia Volfovsky
- , Loran Casey White
- , Alexander Hsieh
- , Yufeng Shen
- , Xueya Zhou
- , Tychele N. Turner
- , Ethan Bahl
- , Taylor R. Thomas
- , Leo Brueggeman
- , Tanner Koomar
- , Jacob J. Michaelson
- , Brian J. O’Roak
- , Rebecca A. Barnard
- , Richard A. Gibbs
- , Donna Muzny
- , Aniko Sabo
- , Kelli L. Baalman Ahmed
- , Evan E. Eichler
- , Matthew Siegel
- , Leonard Abbeduto
- , David G. Amaral
- , Brittani A. Hilscher
- , Deana Li
- , Kaitlin Smith
- , Samantha Thompson
- , Charles Albright
- , Eric M. Butter
- , Sara Eldred
- , Nathan Hanna
- , Mark Jones
- , Daniel Lee Coury
- , Jessica Scherr
- , Taylor Pifher
- , Erin Roby
- , Brandy Dennis
- , Lorrin Higgins
- , Melissa Brown
- , Michael Alessandri
- , Anibal Gutierrez
- , Melissa N. Hale
- , Lynette M. Herbert
- , Hoa Lam Schneider
- , Giancarla David
- , Robert D. Annett
- , Dustin E. Sarver
- , Ivette Arriaga
- , Alexies Camba
- , Amanda C. Gulsrud
- , Monica Haley
- , James T. McCracken
- , Sophia Sandhu
- , Maira Tafolla
- , Wha S. Yang
- , Laura A. Carpenter
- , Catherine C. Bradley
- , Frampton Gwynette
- , Patricia Manning
- , Rebecca Shaffer
- , Carrie Thomas
- , Raphael A. Bernier
- , Emily A. Fox
- , Jennifer A. Gerdts
- , Micah Pepper
- , Theodore Ho
- , Daniel Cho
- , Joseph Piven
- , Holly Lechniak
- , Latha V. Soorya
- , Rachel Gordon
- , Allison Wainer
- , Lisa Yeh
- , Cesar Ochoa-Lubinoff
- , Nicole Russo
- , Elizabeth Berry-Kravis
- , Stephanie Booker
- , Craig A. Erickson
- , Lisa M. Prock
- , Katherine G. Pawlowski
- , Emily T. Matthews
- , Stephanie J. Brewster
- , Margaret A. Hojlo
- , Evi Abada
- , Elena Lamarche
- , Tianyun Wang
- , Shwetha C. Murali
- , William T. Harvey
- , Hannah E. Kaplan
- , Karen L. Pierce
- , Lindsey DeMarco
- , Susannah Horner
- , Juhi Pandey
- , Samantha Plate
- , Mustafa Sahin
- , Katherine D. Riley
- , Erin Carmody
- , Julia Constantini
- , Amy Esler
- , Ali Fatemi
- , Hanna Hutter
- , Rebecca J. Landa
- , Alexander P. McKenzie
- , Jason Neely
- , Vini Singh
- , Bonnie Van Metre
- , Ericka L. Wodka
- , Eric J. Fombonne
- , Lark Y. Huang-Storms
- , Lillian D. Pacheco
- , Sarah A. Mastel
- , Leigh A. Coppola
- , Sunday Francis
- , Andrea Jarrett
- , Suma Jacob
- , Natasha Lillie
- , Jaclyn Gunderson
- , Dalia Istephanous
- , Laura Simon
- , Ori Wasserberg
- , Angela L. Rachubinski
- , Cordelia R. Rosenberg
- , Stephen M. Kanne
- , Amanda D. Shocklee
- , Nicole Takahashi
- , Shelby L. Bridwell
- , Rebecca L. Klimczac
- , Melissa A. Mahurin
- , Hannah E. Cotrell
- , Cortaiga A. Grant
- , Samantha G. Hunter
- , Christa Lese Martin
- , Cora M. Taylor
- , Lauren K. Walsh
- , Katherine A. Dent
- , Andrew Mason
- , Anthony Sziklay
- , Christopher J. Smith
- , Magnus Nordenskjöld
- , Corrado Romano
- , Hilde Peeters
- , Raphael A. Bernier
- , Jozef Gecz
- , Kun Xia
- & Evan E. Eichler
-
Research | | Open
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
- Francisco del Caño-Ochoa
- , Bobby G. Ng
- , Malak Abedalthagafi
- , Mohammed Almannai
- , Ronald D. Cohn
- , Gregory Costain
- , Orly Elpeleg
- , Henry Houlden
- , Ehsan Ghayoor Karimiani
- , Pengfei Liu
- , M. Chiara Manzini
- , Reza Maroofian
- , Michael Muriello
- , Ali Al-Otaibi
- , Hema Patel
- , Edvardson Shimon
- , V. Reid Sutton
- , Mehran Beiraghi Toosi
- , Lynne A. Wolfe
- , Jill A. Rosenfeld
- , Hudson H. Freeze
- & Santiago Ramón-Maiques
-
Amendments and Corrections |
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G M Bosch
- , Megan T Cho ScM
- , Jill A Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F Nienke Boonstra
- , Francisca Millan
- , Frans P M Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K Chung
- , Dmitriy Niyazov
- , Juan M Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M Hisama
- , Bert B A de Vries
- & Christian Schaaf
-
Amendments and Corrections |
Corrigendum: A copy number variation morbidity map of developmental delay
- Gregory M Cooper
- , Bradley P Coe
- , Santhosh Girirajan
- , Jill A Rosenfeld
- , Tiffany H Vu
- , Carl Baker
- , Charles Williams
- , Heather Stalker
- , Rizwan Hamid
- , Vickie Hannig
- , Hoda Abdel-Hamid
- , Patricia Bader
- , Elizabeth McCracken
- , Dmitriy Niyazov
- , Kathleen Leppig
- , Heidi Thiese
- , Marybeth Hummel
- , Nora Alexander
- , Jerome Gorski
- , Jennifer Kussmann
- , Vandana Shashi
- , Krys Johnson
- , Catherine Rehder
- , Blake C Ballif
- , Lisa G Shaffer
- & Evan E Eichler
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Research |
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
- Dominic Lenz
- , Desirée E. C. Smith
- , Ellen Crushell
- , Ralf A. Husain
- , Gajja S. Salomons
- , Bader Alhaddad
- , Jonathan A. Bernstein
- , Alyssa Bianzano
- , Saskia Biskup
- , Heiko Brennenstuhl
- , Dominique Caldari
- , Nicola Dikow
- , Tobias B. Haack
- , Andrea Hanson-Kahn
- , Inga Harting
- , Denise Horn
- , Joanne Hughes
- , Maya Huijberts
- , Bertrand Isidor
- , Simone Kathemann
- , Robert Kopajtich
- , Urania Kotzaeridou
- , Sébastien Küry
- , Elke Lainka
- , Lucia Laugwitz
- , James R. Lupski
- , Jennifer E. Posey
- , Claire Reynolds
- , Jill A. Rosenfeld
- , Julian Schröter
- , Fleur Vansenne
- , Matias Wagner
- , Claudia Weiß
- , Bruce H. R. Wolffenbuttel
- , Saskia B. Wortmann
- , Stefan Kölker
- , Georg F. Hoffmann
- , Holger Prokisch
- , Marisa I. Mendes
- & Christian Staufner
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Research |
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum
- Lisa T. Emrick
- , Jill A. Rosenfeld
- , Seema R. Lalani
- , Mahim Jain
- , Nilesh K. Desai
- , Austin Larson
- , Kimberly Kripps
- , Adeline Vanderver
- , Ryan J. Taft
- , Krista Bluske
- , Denise Perry
- , Honey Nagakura
- , LaDonna L. Immken
- , Lindsay C. Burrage
- , Carlos A. Bacino
- , John W. Belmont
- , Undiagnosed Diseases Network
- & Brendan Lee
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Research |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
- Xia Wang
- , Wu-Lin Charng
- , Chun-An Chen
- , Jill A Rosenfeld
- , Aisha Al Shamsi
- , Lihadh Al-Gazali
- , Marianne McGuire
- , Nicholas Ah Mew
- , Georgianne L Arnold
- , Chunjing Qu
- , Yan Ding
- , Donna M Muzny
- , Richard A Gibbs
- , Christine M Eng
- , Magdalena Walkiewicz
- , Fan Xia
- , Sharon E Plon
- , James R Lupski
- , Christian P Schaaf
- & Yaping Yang
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
- Michael D. Fountain
- , Emmelien Aten
- , Megan T. Cho
- , Jane Juusola
- , Magdalena A. Walkiewicz
- , Joseph W. Ray
- , Fan Xia
- , Yaping Yang
- , Brett H. Graham
- , Carlos A. Bacino
- , Lorraine Potocki
- , Arie van Haeringen
- , Claudia A.L. Ruivenkamp
- , Pedro Mancias
- , Hope Northrup
- , Mary K. Kukolich
- , Marjan M. Weiss
- , Conny M.A. van Ravenswaaij-Arts
- , Inge B. Mathijssen
- , Sebastien Levesque
- , Naomi Meeks
- , Jill A. Rosenfeld
- , Danielle Lemke
- , Ada Hamosh
- , Suzanne K. Lewis
- , Simone Race
- , Laura L. Stewart
- , Beverly Hay
- , Andrea M. Lewis
- , Rita L. Guerreiro
- , Jose T. Bras
- , Marcia P. Martins
- , Gerarda Derksen-Lubsen
- , Els Peeters
- , Connie Stumpel
- , Sander Stegmann
- , Levinus A. Bok
- , Gijs W.E. Santen
- & Christian P. Schaaf
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G. M. Bosch
- , Megan T. Cho
- , Jill A. Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G. Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F. Nienke Boonstra
- , Francisca Millan
- , Frans P. M. Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K. Chung
- , Dmitriy Niyazov
- , Juan M. Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M. Hisama
- , Bert B. A. de Vries
- & Christian Schaaf
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The complex behavioral phenotype of 15q13.3 microdeletion syndrome
- Mark N. Ziats
- , Robin P. Goin-Kochel
- , Leandra N. Berry
- , May Ali
- , Jun Ge
- , Danielle Guffey
- , Jill A. Rosenfeld
- , Patricia Bader
- , Michael J. Gambello
- , Varina Wolf
- , Lynette S. Penney
- , Ryan Miller
- , Robert Roger Lebel
- , Jeffrey Kane
- , Kristine Bachman
- , Robin Troxell
- , Gary Clark
- , Charles G. Minard
- , Pawel Stankiewicz
- , Arthur Beaudet
- & Christian P. Schaaf
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Research |
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Research |
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
- Sureni V Mullegama
- , Jill A Rosenfeld
- , Carmen Orellana
- , Bregje W M van Bon
- , Sara Halbach
- , Elena A Repnikova
- , Lauren Brick
- , Chumei Li
- , Lucie Dupuis
- , Monica Rosello
- , Swaroop Aradhya
- , D James Stavropoulos
- , Kandamurugu Manickam
- , Elyse Mitchell
- , Jennelle C Hodge
- , Michael E Talkowski
- , James F Gusella
- , Kory Keller
- , Jonathan Zonana
- , Stuart Schwartz
- , Robert E Pyatt
- , Darrel J Waggoner
- , Lisa G Shaffer
- , Angela E Lin
- , Bert B A de Vries
- , Roberto Mendoza-Londono
- & Sarah H Elsea
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Molecular diagnostic experience of whole-exome sequencing in adult patients
- Jennifer E. Posey
- , Jill A. Rosenfeld
- , Regis A. James
- , Matthew Bainbridge
- , Zhiyv Niu
- , Xia Wang
- , Shweta Dhar
- , Wojciech Wiszniewski
- , Zeynep H. C. Akdemir
- , Tomasz Gambin
- , Fan Xia
- , Richard E. Person
- , Magdalena Walkiewicz
- , Chad A. Shaw
- , V. Reid Sutton
- , Arthur L. Beaudet
- , Donna Muzny
- , Christine M. Eng
- , Yaping Yang
- , Richard A. Gibbs
- , James R. Lupski
- , Eric Boerwinkle
- & Sharon E. Plon
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Research |
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Research |
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Research |
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| Open
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Research |
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
- Ian M. Campbell
- , Svetlana A. Yatsenko
- , Patricia Hixson
- , Tyler Reimschisel
- , Matthew Thomas
- , William Wilson
- , Usha Dayal
- , James W. Wheless
- , Amy Crunk
- , Cynthia Curry
- , Nicole Parkinson
- , Leona Fishman
- , James J. Riviello
- , Malgorzata J.M. Nowaczyk
- , Susan Zeesman
- , Jill A. Rosenfeld
- , Bassem A. Bejjani
- , Lisa G. Shaffer
- , Sau Wai Cheung
- , James R. Lupski
- , Pawel Stankiewicz
- & Fernando Scaglia
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Research |
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
- Ash Zawerton
- , Cyril Mignot
- , Ashley Sigafoos
- , Patrick R. Blackburn
- , Abdul Haseeb
- , Kirsty McWalter
- , Shoji Ichikawa
- , Caroline Nava
- , Boris Keren
- , Perrine Charles
- , Isabelle Marey
- , Anne-Claude Tabet
- , Jonathan Levy
- , Laurence Perrin
- , Andreas Hartmann
- , Gaetan Lesca
- , Caroline Schluth-Bolard
- , Pauline Monin
- , Sophie Dupuis-Girod
- , Maria J. Guillen Sacoto
- , Rhonda E. Schnur
- , Zehua Zhu
- , Alice Poisson
- , Salima El Chehadeh
- , Yves Alembik
- , Ange-Line Bruel
- , Daphné Lehalle
- , Sophie Nambot
- , Sébastien Moutton
- , Sylvie Odent
- , Sylvie Jaillard
- , Christèle Dubourg
- , Yvonne Hilhorst-Hofstee
- , Tina Barbaro-Dieber
- , Lucia Ortega
- , Elizabeth J. Bhoj
- , Diane Masser-Frye
- , Lynne M. Bird
- , Kristin Lindstrom
- , Keri M. Ramsey
- , Vinodh Narayanan
- , Emily Fassi
- , Marcia Willing
- , Trevor Cole
- , Claire G. Salter
- , Rhoda Akilapa
- , Anthony Vandersteen
- , Natalie Canham
- , Patrick Rump
- , Erica H. Gerkes
- , Jolien S. Klein Wassink-Ruiter
- , Emilia Bijlsma
- , Mariëtte J. V. Hoffer
- , Marcelo Vargas
- , Antonina Wojcik
- , Florian Cherik
- , Christine Francannet
- , Jill A. Rosenfeld
- , Keren Machol
- , Daryl A. Scott
- , Carlos A. Bacino
- , Xia Wang
- , Gary D. Clark
- , Marta Bertoli
- , Simon Zwolinski
- , Rhys H. Thomas
- , Ela Akay
- , Richard C. Chang
- , Rebekah Bressi
- , Rossana Sanchez Russo
- , Myriam Srour
- , Laura Russell
- , Anne-Marie E. Goyette
- , Lucie Dupuis
- , Roberto Mendoza-Londono
- , Catherine Karimov
- , Maries Joseph
- , Mathilde Nizon
- , Benjamin Cogné
- , Alma Kuechler
- , Amélie Piton
- , Eric W. Klee
- , Véronique Lefebvre
- , Karl J. Clark
- & Christel Depienne
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Research | | Open
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
- Hui Guo
- , Elisa Bettella
- , Paul C. Marcogliese
- , Rongjuan Zhao
- , Jonathan C. Andrews
- , Tomasz J. Nowakowski
- , Madelyn A. Gillentine
- , Kendra Hoekzema
- , Tianyun Wang
- , Huidan Wu
- , Sharayu Jangam
- , Cenying Liu
- , Hailun Ni
- , Marjolein H. Willemsen
- , Bregje W. van Bon
- , Tuula Rinne
- , Servi J. C. Stevens
- , Tjitske Kleefstra
- , Han G. Brunner
- , Helger G. Yntema
- , Min Long
- , Wenjing Zhao
- , Zhengmao Hu
- , Cindy Colson
- , Nicolas Richard
- , Charles E. Schwartz
- , Corrado Romano
- , Lucia Castiglia
- , Maria Bottitta
- , Shweta U. Dhar
- , Deanna J. Erwin
- , Lisa Emrick
- , Boris Keren
- , Alexandra Afenjar
- , Baosheng Zhu
- , Bing Bai
- , Pawel Stankiewicz
- , Kristin Herman
- , Deborah A. Nickerson
- , Michael J. Bamshad
- , Saadet Mercimek-Andrews
- , Jane Juusola
- , Amy B. Wilfert
- , Rami Abou Jamra
- , Benjamin Büttner
- , Heather C. Mefford
- , Alison M. Muir
- , Ingrid E. Scheffer
- , Brigid M. Regan
- , Stephen Malone
- , Jozef Gecz
- , Jan Cobben
- , Marjan M. Weiss
- , Quinten Waisfisz
- , Emilia K. Bijlsma
- , Mariëtte J. V. Hoffer
- , Claudia A. L. Ruivenkamp
- , Stefano Sartori
- , Fan Xia
- , Jill A. Rosenfeld
- , Raphael A. Bernier
- , Michael F. Wangler
- , Shinya Yamamoto
- , Kun Xia
- , Alexander P. A. Stegmann
- , Hugo J. Bellen
- , Alessandra Murgia
- & Evan E. Eichler
-
Research |
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
- Alexandria T. M. Blackburn
- , Nasim Bekheirnia
- , Vanessa C. Uma
- , Mark E. Corkins
- , Yuxiao Xu
- , Jill A. Rosenfeld
- , Matthew N. Bainbridge
- , Yaping Yang
- , Pengfei Liu
- , Suneeta Madan-Khetarpal
- , Mauricio R. Delgado
- , Louanne Hudgins
- , Ian Krantz
- , David Rodriguez-Buritica
- , Patricia G. Wheeler
- , Lihadh Al-Gazali
- , Aisha Mohamed Saeed Mohamed Al Shamsi
- , Natalia Gomez-Ospina
- , Hsiao-Tuan Chao
- , Ghayda M. Mirzaa
- , Angela E. Scheuerle
- , Mary K. Kukolich
- , Fernando Scaglia
- , Christine Eng
- , Helen Rankin Willsey
- , Michael C. Braun
- , Dolores J. Lamb
- , Rachel K. Miller
- & Mir Reza Bekheirnia
-
Research |
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer
- Sahar Nissim
- , Ignaty Leshchiner
- , Joseph D. Mancias
- , Matthew B. Greenblatt
- , Ophélia Maertens
- , Christopher A. Cassa
- , Jill A. Rosenfeld
- , Andrew G. Cox
- , John Hedgepeth
- , Julia I. Wucherpfennig
- , Andrew J. Kim
- , Jake E. Henderson
- , Patrick Gonyo
- , Anthony Brandt
- , Ellen Lorimer
- , Bethany Unger
- , Jeremy W. Prokop
- , Jerry R. Heidel
- , Xiao-Xu Wang
- , Chinedu I. Ukaegbu
- , Benjamin C. Jennings
- , Joao A. Paulo
- , Sebastian Gableske
- , Carol A. Fierke
- , Gad Getz
- , Shamil R. Sunyaev
- , J. Wade Harper
- , Karen Cichowski
- , Alec C. Kimmelman
- , Yariv Houvras
- , Sapna Syngal
- , Carol Williams
- & Wolfram Goessling
-
Research |
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
- Mathilde Nizon
- , Vincent Laugel
- , Kevin M. Flanigan
- , Matthew Pastore
- , Megan A. Waldrop
- , Jill A. Rosenfeld
- , Ronit Marom
- , Rui Xiao
- , Amanda Gerard
- , Olivier Pichon
- , Cédric Le Caignec
- , Marion Gérard
- , Klaus Dieterich
- , Megan Truitt Cho
- , Kirsty McWalter
- , Susan Hiatt
- , Michelle L. Thompson
- , Stéphane Bézieau
- , Alexandrea Wadley
- , Klaas J. Wierenga
- , Jean-Marc Egly
- & Bertrand Isidor
-
Research |
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- Laure Frésard
- , Craig Smail
- , Nicole M. Ferraro
- , Nicole A. Teran
- , Xin Li
- , Kevin S. Smith
- , Devon Bonner
- , Kristin D. Kernohan
- , Shruti Marwaha
- , Zachary Zappala
- , Brunilda Balliu
- , Joe R. Davis
- , Boxiang Liu
- , Cameron J. Prybol
- , Jennefer N. Kohler
- , Diane B. Zastrow
- , Chloe M. Reuter
- , Dianna G. Fisk
- , Megan E. Grove
- , Jean M. Davidson
- , Taila Hartley
- , Ruchi Joshi
- , Benjamin J. Strober
- , Sowmithri Utiramerur
- , David R. Adams
- , Aaron Aday
- , Mercedes E. Alejandro
- , Patrick Allard
- , Euan A. Ashley
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Eva Baker
- , Ashok Balasubramanyam
- , Hayk Barseghyan
- , Gabriel F. Batzli
- , Alan H. Beggs
- , Babak Behnam
- , Hugo J. Bellen
- , Jonathan A. Bernstein
- , Gerard T. Berry
- , Anna Bican
- , David P. Bick
- , Camille L. Birch
- , Devon Bonner
- , Braden E. Boone
- , Bret L. Bostwick
- , Lauren C. Briere
- , Elly Brokamp
- , Donna M. Brown
- , Matthew Brush
- , Elizabeth A. Burke
- , Lindsay C. Burrage
- , Manish J. Butte
- , Shan Chen
- , Gary D. Clark
- , Terra R. Coakley
- , Joy D. Cogan
- , Heather A. Colley
- , Cynthia M. Cooper
- , Heidi Cope
- , William J. Craigen
- , Precilla D’Souza
- , Mariska Davids
- , Jean M. Davidson
- , Jyoti G. Dayal
- , Esteban C. Dell’Angelica
- , Shweta U. Dhar
- , Katrina M. Dipple
- , Laurel A. Donnell-Fink
- , Naghmeh Dorrani
- , Daniel C. Dorset
- , Emilie D. Douine
- , David D. Draper
- , Annika M. Dries
- , Laura Duncan
- , David J. Eckstein
- , Lisa T. Emrick
- , Christine M. Eng
- , Gregory M. Enns
- , Ascia Eskin
- , Cecilia Esteves
- , Tyra Estwick
- , Liliana Fernandez
- , Carlos Ferreira
- , Elizabeth L. Fieg
- , Paul G. Fisher
- , Brent L. Fogel
- , Noah D. Friedman
- , William A. Gahl
- , Emily Glanton
- , Rena A. Godfrey
- , Alica M. Goldman
- , David B. Goldstein
- , Sarah E. Gould
- , Jean-Philippe F. Gourdine
- , Catherine A. Groden
- , Andrea L. Gropman
- , Melissa Haendel
- , Rizwan Hamid
- , Neil A. Hanchard
- , Frances High
- , Ingrid A. Holm
- , Jason Hom
- , Ellen M. Howerton
- , Yong Huang
- , Fariha Jamal
- , Yong-hui Jiang
- , Jean M. Johnston
- , Angela L. Jones
- , Lefkothea Karaviti
- , David M. Koeller
- , Isaac S. Kohane
- , Jennefer N. Kohler
- , Donna M. Krasnewich
- , Susan Korrick
- , Mary Koziura
- , Joel B. Krier
- , Jennifer E. Kyle
- , Seema R. Lalani
- , C. Christopher Lau
- , Jozef Lazar
- , Kimberly LeBlanc
- , Brendan H. Lee
- , Hane Lee
- , Shawn E. Levy
- , Richard A. Lewis
- , Sharyn A. Lincoln
- , Sandra K. Loo
- , Joseph Loscalzo
- , Richard L. Maas
- , Ellen F. Macnamara
- , Calum A. MacRae
- , Valerie V. Maduro
- , Marta M. Majcherska
- , May Christine V. Malicdan
- , Laura A. Mamounas
- , Teri A. Manolio
- , Thomas C. Markello
- , Ronit Marom
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Shruti Marwaha
- , Thomas May
- , Allyn McConkie-Rosell
- , Colleen E. McCormack
- , Alexa T. McCray
- , Jason D. Merker
- , Thomas O. Metz
- , Matthew Might
- , Paolo M. Moretti
- , Marie Morimoto
- , John J. Mulvihill
- , David R. Murdock
- , Jennifer L. Murphy
- , Donna M. Muzny
- , Michele E. Nehrebecky
- , Stan F. Nelson
- , J. Scott Newberry
- , John H. Newman
- , Sarah K. Nicholas
- , Donna Novacic
- , Jordan S. Orange
- , James P. Orengo
- , J. Carl Pallais
- , Christina GS. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Loren DM. Pena
- , John A. Phillips III
- , Jennifer E. Posey
- , John H. Postlethwait
- , Lorraine Potocki
- , Barbara N. Pusey
- , Genecee Renteria
- , Chloe M. Reuter
- , Lynette Rives
- , Amy K. Robertson
- , Lance H. Rodan
- , Jill A. Rosenfeld
- , Jacinda B. Sampson
- , Susan L. Samson
- , Kelly Schoch
- , Daryl A. Scott
- , Lisa Shakachite
- , Prashant Sharma
- , Vandana Shashi
- , Rebecca Signer
- , Edwin K. Silverman
- , Janet S. Sinsheimer
- , Kevin S. Smith
- , Rebecca C. Spillmann
- , Joan M. Stoler
- , Nicholas Stong
- , Jennifer A. Sullivan
- , David A. Sweetser
- , Queenie K.-G. Tan
- , Cynthia J. Tifft
- , Camilo Toro
- , Alyssa A. Tran
- , Tiina K. Urv
- , Eric Vilain
- , Tiphanie P. Vogel
- , Daryl M. Waggott
- , Colleen E. Wahl
- , Nicole M. Walley
- , Chris A. Walsh
- , Melissa Walker
- , Jijun Wan
- , Michael F. Wangler
- , Patricia A. Ward
- , Katrina M. Waters
- , Bobbie-Jo M. Webb-Robertson
- , Monte Westerfield
- , Matthew T. Wheeler
- , Anastasia L. Wise
- , Lynne A. Wolfe
- , Elizabeth A. Worthey
- , Shinya Yamamoto
- , John Yang
- , Yaping Yang
- , Amanda J. Yoon
- , Guoyun Yu
- , Diane B. Zastrow
- , Chunli Zhao
- , Allison Zheng
- , Kym Boycott
- , Alex MacKenzie
- , Jacek Majewski
- , Michael Brudno
- , Dennis Bulman
- , David Dyment
- , Lars Lind
- , Erik Ingelsson
- , Alexis Battle
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Euan A. Ashley
- , Kym M. Boycott
- , Jason D. Merker
- , Matthew T. Wheeler
- & Stephen B. Montgomery
-
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
-
Reviews |
Insights into genetics, human biology and disease gleaned from family based genomic studies
- Jennifer E. Posey
- , Anne H. O’Donnell-Luria
- , Jessica X. Chong
- , Tamar Harel
- , Shalini N. Jhangiani
- , Zeynep H. Coban Akdemir
- , Steven Buyske
- , Davut Pehlivan
- , Claudia M. B. Carvalho
- , Samantha Baxter
- , Nara Sobreira
- , Pengfei Liu
- , Nan Wu
- , Jill A. Rosenfeld
- , Sushant Kumar
- , Dimitri Avramopoulos
- , Janson J. White
- , Kimberly F. Doheny
- , P. Dane Witmer
- , Corinne Boehm
- , V. Reid Sutton
- , Donna M. Muzny
- , Eric Boerwinkle
- , Murat Günel
- , Deborah A. Nickerson
- , Shrikant Mane
- , Daniel G. MacArthur
- , Richard A. Gibbs
- , Ada Hamosh
- , Richard P. Lifton
- , Tara C. Matise
- , Heidi L. Rehm
- , Mark Gerstein
- , Michael J. Bamshad
- , David Valle
- & James R. Lupski
-
Research | | Open
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
- Lucilla Pizzo
- , Matthew Jensen
- , Andrew Polyak
- , Jill A. Rosenfeld
- , Katrin Mannik
- , Arjun Krishnan
- , Elizabeth McCready
- , Olivier Pichon
- , Cedric Le Caignec
- , Anke Van Dijck
- , Kate Pope
- , Els Voorhoeve
- , Jieun Yoon
- , Paweł Stankiewicz
- , Sau Wai Cheung
- , Damian Pazuchanics
- , Emily Huber
- , Vijay Kumar
- , Rachel L. Kember
- , Francesca Mari
- , Aurora Curró
- , Lucia Castiglia
- , Ornella Galesi
- , Emanuela Avola
- , Teresa Mattina
- , Marco Fichera
- , Luana Mandarà
- , Marie Vincent
- , Mathilde Nizon
- , Sandra Mercier
- , Claire Bénéteau
- , Sophie Blesson
- , Dominique Martin-Coignard
- , Anne-Laure Mosca-Boidron
- , Jean-Hubert Caberg
- , Maja Bucan
- , Susan Zeesman
- , Małgorzata J. M. Nowaczyk
- , Mathilde Lefebvre
- , Laurence Faivre
- , Patrick Callier
- , Cindy Skinner
- , Boris Keren
- , Charles Perrine
- , Paolo Prontera
- , Nathalie Marle
- , Alessandra Renieri
- , Alexandre Reymond
- , R. Frank Kooy
- , Bertrand Isidor
- , Charles Schwartz
- , Corrado Romano
- , Erik Sistermans
- , David J. Amor
- , Joris Andrieux
- & Santhosh Girirajan
-
Research |
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
- Vandana Shashi
- , Kelly Schoch
- , Rebecca Spillmann
- , Heidi Cope
- , Queenie K.-G. Tan
- , Nicole Walley
- , Loren Pena
- , Allyn McConkie-Rosell
- , Yong-Hui Jiang
- , Nicholas Stong
- , Anna C. Need
- , David B. Goldstein
- , David R. Adams
- , Mercedes E. Alejandro
- , Patrick Allard
- , Euan A. Ashley
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Hayk Barseghyan
- , Gabriel F. Batzli
- , Alan H. Beggs
- , Babak Behnam
- , Hugo J. Bellen
- , Jonathan A. Bernstein
- , Anna Bican
- , David P. Bick
- , Camille L. Birch
- , Devon Bonner
- , Braden E. Boone
- , Bret L. Bostwick
- , Lauren C. Briere
- , Donna M. Brown
- , Matthew Brush
- , Elizabeth A. Burke
- , Lindsay C. Burrage
- , Manish J. Butte
- , Shan Chen
- , Gary D. Clark
- , Terra R. Coakley
- , Joy D. Cogan
- , Cynthia M. Cooper
- , Heidi Cope
- , William J. Craigen
- , Precilla D’Souza
- , Mariska Davids
- , Jean M. Davidson
- , Jyoti G. Dayal
- , Esteban C. Dell’Angelica
- , Shweta U. Dhar
- , Katrina M. Dipple
- , Laurel A. Donnell-Fink
- , Naghmeh Dorrani
- , Daniel C. Dorset
- , Emilie D. Douine
- , David D. Draper
- , Annika M. Dries
- , David J. Eckstein
- , Lisa T. Emrick
- , Christine M. Eng
- , Gregory M. Enns
- , Ascia Eskin
- , Cecilia Esteves
- , Tyra Estwick
- , Liliana Fernandez
- , Carlos Ferreira
- , Paul G. Fisher
- , Brent L. Fogel
- , Noah D. Friedman
- , William A. Gahl
- , Emily Glanton
- , Rena A. Godfrey
- , David B. Goldstein
- , Sarah E. Gould
- , Jean-Philippe F. Gourdine
- , Catherine A. Groden
- , Andrea L. Gropman
- , Melissa Haendel
- , Rizwan Hamid
- , Neil A. Hanchard
- , Lori H. Handley
- , Matthew R. Herzog
- , Ingrid A. Holm
- , Jason Hom
- , Ellen M. Howerton
- , Yong Huang
- , Howard J. Jacob
- , Mahim Jain
- , Yong-hui Jiang
- , Jean M. Johnston
- , Angela L. Jones
- , David M. Koeller
- , Isaac S. Kohane
- , Jennefer N. Kohler
- , Donna M. Krasnewich
- , Elizabeth L. Krieg
- , Joel B. Krier
- , Jennifer E. Kyle
- , Seema R. Lalani
- , C. Christopher Lau
- , Jozef Lazar
- , Kimberly LeBlanc
- , Brendan H. Lee
- , Hane Lee
- , Shawn E. Levy
- , Richard A. Lewis
- , Sharyn A. Lincoln
- , Sandra K. Loo
- , Joseph Loscalzo
- , Richard L. Maas
- , Ellen F. Macnamara
- , Calum A. MacRae
- , Valerie V. Maduro
- , Marta M. Majcherska
- , May Christine V. Malicdan
- , Laura A. Mamounas
- , Teri A. Manolio
- , Thomas C. Markello
- , Ronit Marom
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Shruti Marwaha
- , Thomas May
- , Allyn McConkie-Rosell
- , Colleen E. McCormack
- , Alexa T. McCray
- , Jason D. Merker
- , Thomas O. Metz
- , Matthew Might
- , Paolo M. Moretti
- , Marie Morimoto
- , John J. Mulvihill
- , Jennifer L. Murphy
- , Donna M. Muzny
- , Michele E. Nehrebecky
- , Stan F. Nelson
- , J. Scott Newberry
- , John H. Newman
- , Sarah K. Nicholas
- , Donna Novacic
- , Jordan S. Orange
- , J. Carl Pallais
- , Christina GS. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Loren DM. Pena
- , John A. Phillips III
- , Jennifer E. Posey
- , John H. Postlethwait
- , Lorraine Potocki
- , Barbara N. Pusey
- , Chloe M. Reuter
- , Amy K. Robertson
- , Lance H. Rodan
- , Jill A. Rosenfeld
- , Jacinda B. Sampson
- , Susan L. Samson
- , Kelly Schoch
- , Molly C. Schroeder
- , Daryl A. Scott
- , Prashant Sharma
- , Vandana Shashi
- , Edwin K. Silverman
- , Janet S. Sinsheimer
- , Kevin S. Smith
- , Rebecca C. Spillmann
- , Joan M. Stoler
- , Nicholas Stong
- , Jennifer A. Sullivan
- , David A. Sweetser
- , Queenie K.-G. Tan
- , Cynthia J. Tifft
- , Camilo Toro
- , Alyssa A. Tran
- , Tiina K. Urv
- , Zaheer M. Valivullah
- , Eric Vilain
- , Tiphanie P. Vogel
- , Daryl M. Waggott
- , Colleen E. Wahl
- , Nicole M. Walley
- , Chris A. Walsh
- , Jijun Wan
- , Michael F. Wangler
- , Patricia A. Ward
- , Katrina M. Waters
- , Bobbie-Jo M. Webb-Robertson
- , Monte Westerfield
- , Matthew T. Wheeler
- , Anastasia L. Wise
- , Lynne A. Wolfe
- , Elizabeth A. Worthey
- , Shinya Yamamoto
- , Yaping Yang
- , Amanda J. Yoon
- , Guoyun Yu
- , Diane B. Zastrow
- , Chunli Zhao
- & Allison Zheng
-
Research |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
- Jennifer J Johnston
- , Jasper J van der Smagt
- , Jill A Rosenfeld
- , Alistair T Pagnamenta
- , Abdulrahman Alswaid
- , Eva H Baker
- , Edward Blair
- , Guntram Borck
- , Julia Brinkmann
- , William Craigen
- , Vu Chi Dung
- , Lisa Emrick
- , David B Everman
- , Koen L van Gassen
- , Suleyman Gulsuner
- , Margaret H Harr
- , Mahim Jain
- , Alma Kuechler
- , Kathleen A Leppig
- , Donna M McDonald-McGinn
- , Ngoc Thi Bich Can
- , Amir Peleg
- , Elizabeth R Roeder
- , R Curtis Rogers
- , Lena Sagi-Dain
- , Julie C Sapp
- , Alejandro A Schäffer
- , Denny Schanze
- , Helen Stewart
- , Jenny C Taylor
- , Nienke E Verbeek
- , Magdalena A Walkiewicz
- , Elaine H Zackai
- , Christiane Zweier
- , Martin Zenker
- , Brendan Lee
- & Leslie G Biesecker
-
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
- Loren D M Pena
- , Yong-Hui Jiang
- , Kelly Schoch
- , Rebecca C Spillmann
- , Nicole Walley
- , Nicholas Stong
- , Sarah Rapisardo Horn
- , Jennifer A Sullivan
- , Allyn McConkie-Rosell
- , Sujay Kansagra
- , Edward C Smith
- , Mays El-Dairi
- , Jane Bellet
- , Martha Ann Keels
- , Joan Jasien
- , Peter G Kranz
- , Richard Noel
- , Shashi K Nagaraj
- , Robert K Lark
- , Daniel S G Wechsler
- , Daniela del Gaudio
- , Marco L Leung
- , Laura G Hendon
- , Collette C Parker
- , Kelly L Jones
- , Mercedes E Alejandro
- , Carlos A Bacino
- , Ashok Balasubramanyam
- , Bret L Bostwick
- , Lindsay C Burrage
- , Shan Chen
- , Gary D Clark
- , William J Craigen
- , Shweta U Dhar
- , Lisa T Emrick
- , Brett H Graham
- , Neil A Hanchard
- , Mahim Jain
- , Seema R Lalani
- , Brendan H Lee
- , Richard A Lewis
- , Mashid S Azamian
- , Paolo M Moretti
- , Sarah K Nicholas
- , Jordan S Orange
- , Jennifer E Posey
- , Lorraine Potocki
- , Jill A Rosenfeld
- , Susan L Samson
- , Daryl A Scott
- , Alyssa A Tran
- , Tiphanie P Vogel
- , Jing Zhang
- , Hugo J Bellen
- , Michael F Wangler
- , Shinya Yamamoto
- , Christine M Eng
- , Donna M Muzny
- , Patricia A Ward
- , Yaping Yang
- , David B Goldstein
- , Nicholas Stong
- , Yong-hui Jiang
- , Allyn McConkie-Rosell
- , Loren D M Pena
- , Kelly Schoch
- , Vandana Shashi
- , Rebecca C Spillmann
- , Jennifer A Sullivan
- , Nicole M Walley
- , Alan H Beggs
- , Lauren C Briere
- , Cynthia M Cooper
- , Laurel A Donnell-Fink
- , Elizabeth L Krieg
- , Joel B Krier
- , Sharyn A Lincoln
- , Joseph Loscalzo
- , Richard L Maas
- , Calum A MacRae
- , J Carl Pallais
- , Lance H Rodan
- , Edwin K Silverman
- , Joan M Stoler
- , David A Sweetser
- , Chris A Walsh
- , Cecilia Esteves
- , Ingrid A Holm
- , Isaac S Kohane
- , Paul Mazur
- , Alexa T McCray
- , Matthew Might
- , Rachel B Ramoni
- , Kimberly Splinter
- , David P Bick
- , Camille L Birch
- , Braden E Boone
- , Donna M Brown
- , Daniel C Dorset
- , Lori H Handley
- , Howard J Jacob
- , Angela L Jones
- , Jozef Lazar
- , Shawn E Levy
- , J Scott Newberry
- , Molly C Schroeder
- , Kimberly A Strong
- , Elizabeth A Worthey
- , Jyoti G Dayal
- , David J Eckstein
- , Sarah E Gould
- , Ellen M Howerton
- , Donna M Krasnewich
- , Laura A Mamounas
- , Teri A Manolio
- , John J Mulvihill
- , Tiina K Urv
- , Anastasia L Wise
- , Ariane G Soldatos
- , Matthew Brush
- , Jean-Philippe F Gourdine
- , Melissa Haendel
- , David M Koeller
- , Jennifer E Kyle
- , Thomas O Metz
- , Katrina M Waters
- , Bobbie-Jo M Webb-Robertson
- , Euan A Ashley
- , Jonathan A Bernstein
- , Annika M Dries
- , Paul G Fisher
- , Jennefer N Kohler
- , Daryl M Waggott
- , Matthew T Wheeler
- , Patricia A Zornio
- , Patrick Allard
- , Hayk Barseghyan
- , Esteban C Dell'Angelica
- , Ani Dillon
- , Katrina M Dipple
- , Naghmeh Dorrani
- , Emilie D Douine
- , Ascia Eskin
- , Brent L Fogel
- , Matthew R Herzog
- , Hane Lee
- , Allen Lipson
- , Sandra K Loo
- , Julian A Martínez-Agosto
- , Stan F Nelson
- , Christina G S Palmer
- , Jeanette C Papp
- , Neil H Parker
- , Janet S Sinsheimer
- , Eric Vilain
- , Allison Zheng
- , Christopher J Adams
- , Elizabeth A Burke
- , Katherine R Chao
- , Mariska Davids
- , David D Draper
- , Tyra Estwick
- , Trevor S Frisby
- , Kate Frost
- , Valerie Gartner
- , Rena A Godfrey
- , Mitchell Goheen
- , Gretchen A Golas
- , Mary G Gordon
- , Catherine A Groden
- , Mary E Hackbarth
- , Isabel Hardee
- , Jean M Johnston
- , Alanna E Koehler
- , Lea Latham
- , Yvonne L Latour
- , C Christopher Lau
- , Denise J Levy
- , Adam P Liebendorfer
- , Ellen F Macnamara
- , Valerie V Maduro
- , Thomas C Markello
- , Alexandra J McCarty
- , Jennifer L Murphy
- , Michele E Nehrebecky
- , Donna Novacic
- , Barbara N Pusey
- , Sarah Sadozai
- , Katherine E Schaffer
- , Prashant Sharma
- , Sara P Thomas
- , Nathanial J Tolman
- , Camilo Toro
- , Zaheer M Valivullah
- , Colleen E Wahl
- , Mike Warburton
- , Alec A Weech
- , Guoyun Yu
- , Andrea L Gropman
- , David R Adams
- , William A Gahl
- , May Christine V Malicdan
- , Cynthia J Tifft
- , Lynne A Wolfe
- , Paul R Lee
- , John H Postlethwait
- , Monte Westerfield
- , Anna Bican
- , Joy D Cogan
- , Rizwan Hamid
- , John H Newman
- , John A Phillips III
- , Amy K Robertson
- , David B Goldstein
- & Vandana Shashi
-
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
- Mir Reza Bekheirnia
- , Nasim Bekheirnia
- , Matthew N. Bainbridge
- , Shen Gu
- , Zeynep Hande Coban Akdemir
- , Tomek Gambin
- , Nicolette K. Janzen
- , Shalini N. Jhangiani
- , Donna M. Muzny
- , Mini Michael
- , Eileen D. Brewer
- , Ewa Elenberg
- , Arundhati S. Kale
- , Alyssa A. Riley
- , Sarah J. Swartz
- , Daryl A. Scott
- , Yaping Yang
- , Poyyapakkam R. Srivaths
- , Scott E. Wenderfer
- , Joann Bodurtha
- , Carolyn D. Applegate
- , Milen Velinov
- , Angela Myers
- , Lior Borovik
- , William J. Craigen
- , Neil A. Hanchard
- , Jill A. Rosenfeld
- , Richard Alan Lewis
- , Edmond T. Gonzales
- , Richard A. Gibbs
- , John W. Belmont
- , David R. Roth
- , Christine Eng
- , Michael C. Braun
- , James R. Lupski
- & Dolores J. Lamb
-
Research |
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
- Francesca Antonacci
- , Megan Y Dennis
- , John Huddleston
- , Peter H Sudmant
- , Karyn Meltz Steinberg
- , Jill A Rosenfeld
- , Mattia Miroballo
- , Tina A Graves
- , Laura Vives
- , Maika Malig
- , Laura Denman
- , Archana Raja
- , Andrew Stuart
- , Joyce Tang
- , Brenton Munson
- , Lisa G Shaffer
- , Chris T Amemiya
- , Richard K Wilson
- & Evan E Eichler
-
Research |
Refining analyses of copy number variation identifies specific genes associated with developmental delay
- Bradley P Coe
- , Kali Witherspoon
- , Jill A Rosenfeld
- , Bregje W M van Bon
- , Anneke T Vulto-van Silfhout
- , Paolo Bosco
- , Kathryn L Friend
- , Carl Baker
- , Serafino Buono
- , Lisenka E L M Vissers
- , Janneke H Schuurs-Hoeijmakers
- , Alex Hoischen
- , Rolph Pfundt
- , Nik Krumm
- , Gemma L Carvill
- , Deana Li
- , David Amaral
- , Natasha Brown
- , Paul J Lockhart
- , Ingrid E Scheffer
- , Antonino Alberti
- , Marie Shaw
- , Rosa Pettinato
- , Raymond Tervo
- , Nicole de Leeuw
- , Margot R F Reijnders
- , Beth S Torchia
- , Hilde Peeters
- , Elizabeth Thompson
- , Brian J O'Roak
- , Marco Fichera
- , Jayne Y Hehir-Kwa
- , Jay Shendure
- , Heather C Mefford
- , Eric Haan
- , Jozef Gécz
- , Bert B A de Vries
- , Corrado Romano
- & Evan E Eichler
-
Research |
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
- Julián Nevado
- , Jill A Rosenfeld
- , Rocío Mena
- , María Palomares-Bralo
- , Elena Vallespín
- , María Ángeles Mori
- , Jair A Tenorio
- , Karen W Gripp
- , Elizabeth Denenberg
- , Miguel del Campo
- , Alberto Plaja
- , Rubén Martín-Arenas
- , Fernando Santos-Simarro
- , Lluis Armengol
- , Gordon Gowans
- , María Orera
- , M Carmen Sanchez-Hombre
- , Esther Corbacho-Fernández
- , Alberto Fernández-Jaén
- , Chad Haldeman-Englert
- , Sulagna Saitta
- , Holly Dubbs
- , Duban B Bénédicte
- , Xia Li
- , Lani Devaney
- , Mary Beth Dinulos
- , Stephanie Vallee
- , M Carmen Crespo
- , Blanca Fernández
- , Victoria E Fernández-Montaño
- , Inmaculada Rueda-Arenas
- , María Luisa de Torres
- , Jay W Ellison
- , Salmo Raskin
- , Carlos A Venegas-Vega
- , Fernando Fernández-Ramírez
- , Alicia Delicado
- , Sixto García-Miñaúr
- & Pablo Lapunzina
-
Research |
A copy number variation morbidity map of developmental delay
- Gregory M Cooper
- , Bradley P Coe
- , Santhosh Girirajan
- , Jill A Rosenfeld
- , Tiffany H Vu
- , Carl Baker
- , Charles Williams
- , Heather Stalker
- , Rizwan Hamid
- , Vickie Hannig
- , Hoda Abdel-Hamid
- , Patricia Bader
- , Elizabeth McCracken
- , Dmitriy Niyazov
- , Kathleen Leppig
- , Heidi Thiese
- , Marybeth Hummel
- , Nora Alexander
- , Jerome Gorski
- , Jennifer Kussmann
- , Vandana Shashi
- , Krys Johnson
- , Catherine Rehder
- , Blake C Ballif
- , Lisa G Shaffer
- & Evan E Eichler
-
Research |
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes
- Jill A Rosenfeld
- , Lindsey E Stephens
- , Justine Coppinger
- , Blake C Ballif
- , Joe J Hoo
- , Beatrice N French
- , Valerie C Banks
- , Wendy E Smith
- , David Manchester
- , Anne Chun-Hui Tsai
- , Katrina Merrion
- , Roberto Mendoza-Londono
- , Lucie Dupuis
- , Roger Schultz
- , Beth Torchia
- , Trilochan Sahoo
- , Bassem Bejjani
- , David D Weaver
- & Lisa G Shaffer
-
Research |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
- Jean-Baptiste Rivière
- , Bregje W M van Bon
- , Alexander Hoischen
- , Stanislav S Kholmanskikh
- , Brian J O'Roak
- , Christian Gilissen
- , Sabine Gijsen
- , Christopher T Sullivan
- , Susan L Christian
- , Omar A Abdul-Rahman
- , Joan F Atkin
- , Nicolas Chassaing
- , Valerie Drouin-Garraud
- , Andrew E Fry
- , Jean-Pierre Fryns
- , Karen W Gripp
- , Marlies Kempers
- , Tjitske Kleefstra
- , Grazia M S Mancini
- , Małgorzata J M Nowaczyk
- , Conny M A van Ravenswaaij-Arts
- , Tony Roscioli
- , Michael Marble
- , Jill A Rosenfeld
- , Victoria M Siu
- , Bert B A de Vries
- , Jay Shendure
- , Alain Verloes
- , Joris A Veltman
- , Han G Brunner
- , M Elizabeth Ross
- , Daniela T Pilz
- & William B Dobyns
-
Research |
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
- Alex R Paciorkowski
- , Liu Lin Thio
- , Jill A Rosenfeld
- , Marzena Gajecka
- , Christina A Gurnett
- , Shashikant Kulkarni
- , Wendy K Chung
- , Eric D Marsh
- , Mattia Gentile
- , James D Reggin
- , James W Wheless
- , Sandhya Balasubramanian
- , Ravinesh Kumar
- , Susan L Christian
- , Carla Marini
- , Renzo Guerrini
- , Natalia Maltsev
- , Lisa G Shaffer
- & William B Dobyns
