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Showing 1–11 of 11 results
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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
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Amendments and Corrections |
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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Research | | Open
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Research |
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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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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Research |
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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Research |
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- Santhosh Girirajan
- , Jill A Rosenfeld
- , Gregory M Cooper
- , Francesca Antonacci
- , Priscillia Siswara
- , Andy Itsara
- , Laura Vives
- , Tom Walsh
- , Shane E McCarthy
- , Carl Baker
- , Heather C Mefford
- , Jeffrey M Kidd
- , Sharon R Browning
- , Brian L Browning
- , Diane E Dickel
- , Deborah L Levy
- , Blake C Ballif
- , Kathryn Platky
- , Darren M Farber
- , Gordon C Gowans
- , Jessica J Wetherbee
- , Alexander Asamoah
- , David D Weaver
- , Paul R Mark
- , Jennifer Dickerson
- , Bhuwan P Garg
- , Sara A Ellingwood
- , Rosemarie Smith
- , Valerie C Banks
- , Wendy Smith
- , Marie T McDonald
- , Joe J Hoo
- , Beatrice N French
- , Cindy Hudson
- , John P Johnson
- , Jillian R Ozmore
- , John B Moeschler
- , Urvashi Surti
- , Luis F Escobar
- , Dima El-Khechen
- , Jerome L Gorski
- , Jennifer Kussmann
- , Bonnie Salbert
- , Yves Lacassie
- , Alisha Biser
- , Donna M McDonald-McGinn
- , Elaine H Zackai
- , Matthew A Deardorff
- , Tamim H Shaikh
- , Eric Haan
- , Kathryn L Friend
- , Marco Fichera
- , Corrado Romano
- , Jozef Gécz
- , Lynn E DeLisi
- , Jonathan Sebat
- , Mary-Claire King
- , Lisa G Shaffer
- & Evan E Eichler
