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Research | | Open
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Amendments and Corrections |
Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- Joanna Kennedy
- , David Goudie
- , Edward Blair
- , Kate Chandler
- , Shelagh Joss
- , Victoria McKay
- , Andrew Green
- , Ruth Armstrong
- , Melissa Lees
- , Benjamin Kamien
- , Bruce Hopper
- , Tiong Yang Tan
- , Patrick Yap
- , Zornitza Stark
- , Nobuhiko Okamoto
- , Noriko Miyake
- , Naomichi Matsumoto
- , Ellen Macnamara
- , Jennifer L. Murphy
- , Elizabeth McCormick
- , Hakon Hakonarson
- , Marni J. Falk
- , Dong Li
- , Patrick Blackburn
- , Eric Klee
- , Dusica Babovic-Vuksanovic
- , Susan Schelley
- , Louanne Hudgins
- , Sarina Kant
- , Bertrand Isidor
- , Benjamin Cogne
- , Kimberley Bradbury
- , Mark Williams
- , Chirag Patel
- , Helen Heussler
- , Celia Duff-Farrier
- , Phillis Lakeman
- , Ingrid Scurr
- , Usha Kini
- , Mariet Elting
- , Margot Reijnders
- , Janneke Schuurs-Hoeijmakers
- , Mohamed Wafik
- , Anne Blomhoff
- , Claudia A. L. Ruivenkamp
- , Esther Nibbeling
- , Alexander J. M. Dingemans
- , Emilie D. Douine
- , Stanley F. Nelson
- , Maja Hempel
- , Tatjana Bierhals
- , Davor Lessel
- , Jessika Johannsen
- , Valerie A. Arboleda
- & Ruth Newbury-Ecob
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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 |
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
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Research Highlights |
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Research |
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Research |
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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 |
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| Open
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Research |
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Research |
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
- Matthew J Rock
- , Jean Prenen
- , Vincent A Funari
- , Tara L Funari
- , Barry Merriman
- , Stanley F Nelson
- , Ralph S Lachman
- , William R Wilcox
- , Soraya Reyno
- , Roberto Quadrelli
- , Alicia Vaglio
- , Grzegorz Owsianik
- , Annelies Janssens
- , Thomas Voets
- , Shiro Ikegawa
- , Toshiro Nagai
- , David L Rimoin
- , Bernd Nilius
- & Daniel H Cohn
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Research |
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
- Anna Richards
- , Arn M J M van den Maagdenberg
- , Joanna C Jen
- , David Kavanagh
- , Paula Bertram
- , Dirk Spitzer
- , M Kathryn Liszewski
- , Maria-Louise Barilla-LaBarca
- , Gisela M Terwindt
- , Yumi Kasai
- , Mike McLellan
- , Mark Gilbert Grand
- , Kaate R J Vanmolkot
- , Boukje de Vries
- , Jijun Wan
- , Michael J Kane
- , Hafsa Mamsa
- , Ruth Schäfer
- , Anine H Stam
- , Joost Haan
- , Paulus T V M de Jong
- , Caroline W Storimans
- , Mary J van Schooneveld
- , Jendo A Oosterhuis
- , Andreas Gschwendter
- , Martin Dichgans
- , Katya E Kotschet
- , Suzanne Hodgkinson
- , Todd A Hardy
- , Martin B Delatycki
- , Rula A Hajj-Ali
- , Parul H Kothari
- , Stanley F Nelson
- , Rune R Frants
- , Robert W Baloh
- , Michel D Ferrari
- & John P Atkinson
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Research |
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
- Hane Lee
- , Alden Y. Huang
- , Lee-kai Wang
- , Amanda J. Yoon
- , Genecee Renteria
- , Ascia Eskin
- , Rebecca H. Signer
- , Naghmeh Dorrani
- , Shirley Nieves-Rodriguez
- , Jijun Wan
- , Emilie D. Douine
- , Jeremy D. Woods
- , Esteban C. Dell’Angelica
- , Brent L. Fogel
- , Martin G. Martin
- , Manish J. Butte
- , Neil H. Parker
- , Richard T. Wang
- , Perry B. Shieh
- , Derek A. Wong
- , Natalie Gallant
- , Kathryn E. Singh
- , Y. Jane Tavyev Asher
- , Janet S. Sinsheimer
- , Deborah Krakow
- , Sandra K. Loo
- , Patrick Allard
- , Jeanette C. Papp
- , Christina G. S. Palmer
- , Julian A. Martinez-Agosto
- & Stanley F. Nelson
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Research |
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- Joanna Kennedy
- , David Goudie
- , Edward Blair
- , Kate Chandler
- , Shelagh Joss
- , Victoria McKay
- , Andrew Green
- , Ruth Armstrong
- , Melissa Lees
- , Benjamin Kamien
- , Bruce Hopper
- , Tiong Yang Tan
- , Patrick Yap
- , Zornitza Stark
- , Nobuhiko Okamoto
- , Noriko Miyake
- , Naomichi Matsumoto
- , Ellen Macnamara
- , Jennifer L. Murphy
- , Elizabeth McCormick
- , Hakon Hakonarson
- , Marni J. Falk
- , Dong Li
- , Patrick Blackburn
- , Eric Klee
- , Dusica Babovic-Vuksanovic
- , Susan Schelley
- , Louanne Hudgins
- , Sarina Kant
- , Bertrand Isidor
- , Benjamin Cogne
- , Kimberley Bradbury
- , Mark Williams
- , Chirag Patel
- , Helen Heussler
- , Celia Duff-Farrier
- , Phillis Lakeman
- , Ingrid Scurr
- , Usha Kini
- , Mariet Elting
- , Margot Reijnders
- , Janneke Schuurs-Hoeijmakers
- , Mohamed Wafik
- , Anne Blomhoff
- , Claudia A. L. Ruivenkamp
- , Esther Nibbeling
- , Alexander J. M. Dingemans
- , Emilie D. Douine
- , Stanley F. Nelson
- , Maja Hempel
- , Tatjana Bierhals
- , Davor Lessel
- , Jessika Johannsen
- , Valerie A. Arboleda
- & Ruth Newbury-Ecob
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Joint mouse–human phenome-wide association to test gene function and disease risk
- Xusheng Wang
- , Ashutosh K. Pandey
- , Megan K. Mulligan
- , Evan G. Williams
- , Khyobeni Mozhui
- , Zhengsheng Li
- , Virginija Jovaisaite
- , L. Darryl Quarles
- , Zhousheng Xiao
- , Jinsong Huang
- , John A. Capra
- , Zugen Chen
- , William L. Taylor
- , Lisa Bastarache
- , Xinnan Niu
- , Katherine S. Pollard
- , Daniel C. Ciobanu
- , Alexander O. Reznik
- , Artem V. Tishkov
- , Igor B. Zhulin
- , Junmin Peng
- , Stanley F. Nelson
- , Joshua C. Denny
- , Johan Auwerx
- , Lu Lu
- & Robert W. Williams
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Research |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
- Jianling Ji
- , Hane Lee
- , Bob Argiropoulos
- , Naghmeh Dorrani
- , John Mann
- , Julian A Martinez-Agosto
- , Natalia Gomez-Ospina
- , Natalie Gallant
- , Jonathan A Bernstein
- , Louanne Hudgins
- , Leah Slattery
- , Bertrand Isidor
- , Cédric Le Caignec
- , Albert David
- , Ewa Obersztyn
- , Barbara Wiśniowiecka-Kowalnik
- , Michelle Fox
- , Joshua L Deignan
- , Eric Vilain
- , Emily Hendricks
- , Margaret Horton Harr
- , Sarah E Noon
- , Jessi R Jackson
- , Alisha Wilkens
- , Ghayda Mirzaa
- , Noriko Salamon
- , Jeff Abramson
- , Elaine H Zackai
- , Ian Krantz
- , A Micheil Innes
- , Stanley F Nelson
- , Wayne W Grody
- & Fabiola Quintero-Rivera
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Research | | Open
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Functional impact of global rare copy number variation in autism spectrum disorders
- Dalila Pinto
- , Alistair T. Pagnamenta
- , Lambertus Klei
- , Richard Anney
- , Daniele Merico
- , Regina Regan
- , Judith Conroy
- , Tiago R. Magalhaes
- , Catarina Correia
- , Brett S. Abrahams
- , Joana Almeida
- , Elena Bacchelli
- , Gary D. Bader
- , Anthony J. Bailey
- , Gillian Baird
- , Agatino Battaglia
- , Tom Berney
- , Nadia Bolshakova
- , Sven Bölte
- , Patrick F. Bolton
- , Thomas Bourgeron
- , Sean Brennan
- , Jessica Brian
- , Susan E. Bryson
- , Andrew R. Carson
- , Guillermo Casallo
- , Jillian Casey
- , Brian H.Y. Chung
- , Lynne Cochrane
- , Christina Corsello
- , Emily L. Crawford
- , Andrew Crossett
- , Cheryl Cytrynbaum
- , Geraldine Dawson
- , Maretha de Jonge
- , Richard Delorme
- , Irene Drmic
- , Eftichia Duketis
- , Frederico Duque
- , Annette Estes
- , Penny Farrar
- , Bridget A. Fernandez
- , Susan E. Folstein
- , Eric Fombonne
- , Christine M. Freitag
- , John Gilbert
- , Christopher Gillberg
- , Joseph T. Glessner
- , Jeremy Goldberg
- , Andrew Green
- , Jonathan Green
- , Stephen J. Guter
- , Hakon Hakonarson
- , Elizabeth A. Heron
- , Matthew Hill
- , Richard Holt
- , Jennifer L. Howe
- , Gillian Hughes
- , Vanessa Hus
- , Roberta Igliozzi
- , Cecilia Kim
- , Sabine M. Klauck
- , Alexander Kolevzon
- , Olena Korvatska
- , Vlad Kustanovich
- , Clara M. Lajonchere
- , Janine A. Lamb
- , Magdalena Laskawiec
- , Marion Leboyer
- , Ann Le Couteur
- , Bennett L. Leventhal
- , Anath C. Lionel
- , Xiao-Qing Liu
- , Catherine Lord
- , Linda Lotspeich
- , Sabata C. Lund
- , Elena Maestrini
- , William Mahoney
- , Carine Mantoulan
- , Christian R. Marshall
- , Helen McConachie
- , Christopher J. McDougle
- , Jane McGrath
- , William M. McMahon
- , Alison Merikangas
- , Ohsuke Migita
- , Nancy J. Minshew
- , Ghazala K. Mirza
- , Jeff Munson
- , Stanley F. Nelson
- , Carolyn Noakes
- , Abdul Noor
- , Gudrun Nygren
- , Guiomar Oliveira
- , Katerina Papanikolaou
- , Jeremy R. Parr
- , Barbara Parrini
- , Tara Paton
- , Andrew Pickles
- , Marion Pilorge
- , Joseph Piven
- , Chris P. Ponting
- , David J. Posey
- , Annemarie Poustka
- , Fritz Poustka
- , Aparna Prasad
- , Jiannis Ragoussis
- , Katy Renshaw
- , Jessica Rickaby
- , Wendy Roberts
- , Kathryn Roeder
- , Bernadette Roge
- , Michael L. Rutter
- , Laura J. Bierut
- , John P. Rice
- , Jeff Salt
- , Katherine Sansom
- , Daisuke Sato
- , Ricardo Segurado
- , Ana F. Sequeira
- , Lili Senman
- , Naisha Shah
- , Val C. Sheffield
- , Latha Soorya
- , Inês Sousa
- , Olaf Stein
- , Nuala Sykes
- , Vera Stoppioni
- , Christina Strawbridge
- , Raffaella Tancredi
- , Katherine Tansey
- , Bhooma Thiruvahindrapduram
- , Ann P. Thompson
- , Susanne Thomson
- , Ana Tryfon
- , John Tsiantis
- , Herman Van Engeland
- , John B. Vincent
- , Fred Volkmar
- , Simon Wallace
- , Kai Wang
- , Zhouzhi Wang
- , Thomas H. Wassink
- , Caleb Webber
- , Rosanna Weksberg
- , Kirsty Wing
- , Kerstin Wittemeyer
- , Shawn Wood
- , Jing Wu
- , Brian L. Yaspan
- , Danielle Zurawiecki
- , Lonnie Zwaigenbaum
- , Joseph D. Buxbaum
- , Rita M. Cantor
- , Edwin H. Cook
- , Hilary Coon
- , Michael L. Cuccaro
- , Bernie Devlin
- , Sean Ennis
- , Louise Gallagher
- , Daniel H. Geschwind
- , Michael Gill
- , Jonathan L. Haines
- , Joachim Hallmayer
- , Judith Miller
- , Anthony P. Monaco
- , John I. Nurnberger Jr
- , Andrew D. Paterson
- , Margaret A. Pericak-Vance
- , Gerard D. Schellenberg
- , Peter Szatmari
- , Astrid M. Vicente
- , Veronica J. Vieland
- , Ellen M. Wijsman
- , Stephen W. Scherer
- , James S. Sutcliffe
- & Catalina Betancur
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Research |
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
- Josephine Elia
- , Joseph T Glessner
- , Kai Wang
- , Nagahide Takahashi
- , Corina J Shtir
- , Dexter Hadley
- , Patrick M A Sleiman
- , Haitao Zhang
- , Cecilia E Kim
- , Reid Robison
- , Gholson J Lyon
- , James H Flory
- , Jonathan P Bradfield
- , Marcin Imielinski
- , Cuiping Hou
- , Edward C Frackelton
- , Rosetta M Chiavacci
- , Takeshi Sakurai
- , Cara Rabin
- , Frank A Middleton
- , Kelly A Thomas
- , Maria Garris
- , Frank Mentch
- , Christine M Freitag
- , Hans-Christoph Steinhausen
- , Alexandre A Todorov
- , Andreas Reif
- , Aribert Rothenberger
- , Barbara Franke
- , Eric O Mick
- , Herbert Roeyers
- , Jan Buitelaar
- , Klaus-Peter Lesch
- , Tobias Banaschewski
- , Richard P Ebstein
- , Fernando Mulas
- , Robert D Oades
- , Joseph Sergeant
- , Edmund Sonuga-Barke
- , Tobias J Renner
- , Marcel Romanos
- , Jasmin Romanos
- , Andreas Warnke
- , Susanne Walitza
- , Jobst Meyer
- , Haukur Pálmason
- , Christiane Seitz
- , Sandra K Loo
- , Susan L Smalley
- , Joseph Biederman
- , Lindsey Kent
- , Philip Asherson
- , Richard J L Anney
- , J William Gaynor
- , Philip Shaw
- , Marcella Devoto
- , Peter S White
- , Struan F A Grant
- , Joseph D Buxbaum
- , Judith L Rapoport
- , Nigel M Williams
- , Stanley F Nelson
- , Stephen V Faraone
- & Hakon Hakonarson
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Research |
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Research |
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
- Tobias Willer
- , Hane Lee
- , Mark Lommel
- , Takako Yoshida-Moriguchi
- , Daniel Beltran Valero de Bernabe
- , David Venzke
- , Sebahattin Cirak
- , Harry Schachter
- , Jiri Vajsar
- , Thomas Voit
- , Francesco Muntoni
- , Andrea S Loder
- , William B Dobyns
- , Thomas L Winder
- , Sabine Strahl
- , Katherine D Mathews
- , Stanley F Nelson
- , Steven A Moore
- & Kevin P Campbell
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Research |
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
- Jijun Wan
- , Michael Yourshaw
- , Hafsa Mamsa
- , Sabine Rudnik-Schöneborn
- , Manoj P Menezes
- , Ji Eun Hong
- , Derek W Leong
- , Jan Senderek
- , Michael S Salman
- , David Chitayat
- , Pavel Seeman
- , Arpad von Moers
- , Luitgard Graul-Neumann
- , Andrew J Kornberg
- , Manuel Castro-Gago
- , María-Jesús Sobrido
- , Masafumi Sanefuji
- , Perry B Shieh
- , Noriko Salamon
- , Ronald C Kim
- , Harry V Vinters
- , Zugen Chen
- , Klaus Zerres
- , Monique M Ryan
- , Stanley F Nelson
- & Joanna C Jen
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Research |
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
- Richard J L Anney
- , Elaine M Kenny
- , Colm O'Dushlaine
- , Brian L Yaspan
- , Elena Parkhomenka
- , Joseph D Buxbaum
- , James Sutcliffe
- , Michael Gill
- , Louise Gallagher
- , Anthony J Bailey§
- , Bridget A Fernandez
- , Peter Szatmari§
- , Stephen W Scherer§
- , Andrew Patterson§
- , Christian R Marshall
- , Dalila Pinto
- , John B Vincent
- , Eric Fombonne
- , Catalina Betancur§
- , Richard Delorme
- , Marion Leboyer
- , Thomas Bourgeron
- , Carine Mantoulan
- , Bernadette Roge
- , Maïté Tauber
- , Christine M Freitag§
- , Fritz Poustka
- , Eftichia Duketis
- , Sabine M Klauck§
- , Annemarie Poustka
- , Katerina Papanikolaou
- , John Tsiantis
- , Louise Gallagher§
- , Michael Gill§
- , Richard Anney
- , Nadia Bolshakova
- , Sean Brennan
- , Gillian Hughes
- , Jane McGrath
- , Alison Merikangas
- , Sean Ennis§
- , Andrew Green
- , Jillian P Casey
- , Judith M Conroy
- , Regina Regan
- , Naisha Shah
- , Elena Maestrini§
- , Elena Bacchelli
- , Fiorella Minopoli
- , Vera Stoppioni
- , Agatino Battaglia§
- , Roberta Igliozzi
- , Barbara Parrini
- , Raffaella Tancredi
- , Guiomar Oliveira§
- , Joana Almeida
- , Frederico Duque
- , Astrid Vicente§
- , Catarina Correia
- , Tiago R Magalhaes
- , Christopher Gillberg
- , Gudrun Nygren
- , Maretha de Jonge
- , Herman Van Engeland
- , Jacob AS Vorstman
- , Kerstin Wittemeyer
- , Gillian Baird
- , Patrick F Bolton
- , Michael L Rutter
- , Jonathan Green
- , Janine A Lamb
- , Andrew Pickles
- , Jeremy R Parr
- , Ann Le Couteur
- , Tom Berney
- , Helen McConachie
- , Simon Wallace
- , Marc Coutanche
- , Suzanne Foley
- , Kathy White
- , Anthony P Monaco§
- , Richard Holt
- , Penny Farrar
- , Alistair T Pagnamenta
- , Ghazala K Mirza
- , Jiannis Ragoussis
- , Inês Sousa
- , Nuala Sykes
- , Kirsty Wing
- , Joachim Hallmayer§
- , Rita M Cantor§
- , Stanley F Nelson
- , Daniel H Geschwind§
- , Brett S Abrahams
- , Fred Volkmar
- , Margaret A Pericak-Vance§
- , Michael L Cuccaro
- , John Gilbert
- , Edwin H Cook§
- , Stephen J Guter
- , Suma Jacob
- , John I Nurnberger Jr§
- , Christopher J McDougle
- , David J Posey
- , Catherine Lord
- , Christina Corsello
- , Vanessa Hus
- , Joseph D Buxbaum§
- , Alexander Kolevzon
- , Latha Soorya
- , Elena Parkhomenko
- , Bennett L Leventhal
- , Geraldine Dawson
- , Veronica J Vieland§
- , Hakon Hakonarson§
- , Joseph T Glessner
- , Cecilia Kim
- , Kai Wang
- , Gerard D Schellenberg§
- , Bernie Devlin§
- , Lamburtus Klei
- , Nancy Minshew
- , James S Sutcliffe§
- , Jonathan L Haines§
- , Sabata C Lund
- , Susanne Thomson
- , Brian L Yaspan
- , Hilary Coon§
- , Judith Miller
- , William M McMahon
- , Jeff Munson
- , Annette Estes
- , Ellen M Wijsman§
- , Joseph D Buxbaum
- , James Sutcliffe
- , Michael Gill
- & Louise Gallagher
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Research |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
- Ji Eun Lee
- , Jennifer L Silhavy
- , Maha S Zaki
- , Jana Schroth
- , Stephanie L Bielas
- , Sarah E Marsh
- , Jesus Olvera
- , Francesco Brancati
- , Miriam Iannicelli
- , Koji Ikegami
- , Andrew M Schlossman
- , Barry Merriman
- , Tania Attié-Bitach
- , Clare V Logan
- , Ian A Glass
- , Andrew Cluckey
- , Carrie M Louie
- , Jeong Ho Lee
- , Hilary R Raynes
- , Isabelle Rapin
- , Ignacio P Castroviejo
- , Mitsutoshi Setou
- , Clara Barbot
- , Eugen Boltshauser
- , Stanley F Nelson
- , Friedhelm Hildebrandt
- , Colin A Johnson
- , Daniel A Doherty
- , Enza Maria Valente
- & Joseph G Gleeson
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Research |
Mutations in PYCR1 cause cutis laxa with progeroid features
- Bruno Reversade
- , Nathalie Escande-Beillard
- , Aikaterini Dimopoulou
- , Björn Fischer
- , Serene C Chng
- , Yun Li
- , Mohammad Shboul
- , Puay-Yoke Tham
- , Hülya Kayserili
- , Lihadh Al-Gazali
- , Monzer Shahwan
- , Francesco Brancati
- , Hane Lee
- , Brian D O'Connor
- , Mareen Schmidt-von Kegler
- , Barry Merriman
- , Stanley F Nelson
- , Amira Masri
- , Fawaz Alkazaleh
- , Deanna Guerra
- , Paola Ferrari
- , Arti Nanda
- , Anna Rajab
- , David Markie
- , Mary Gray
- , John Nelson
- , Arthur Grix
- , Annemarie Sommer
- , Ravi Savarirayan
- , Andreas R Janecke
- , Elisabeth Steichen
- , David Sillence
- , Ingrid Haußer
- , Birgit Budde
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Petra Seemann
- , Désirée Kunkel
- , Giovanna Zambruno
- , Bruno Dallapiccola
- , Markus Schuelke
- , Stephen Robertson
- , Hanan Hamamy
- , Bernd Wollnik
- , Lionel Van Maldergem
- , Stefan Mundlos
- & Uwe Kornak
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Research |
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
- David R Goudie
- , Mariella D'Alessandro
- , Barry Merriman
- , Hane Lee
- , Ildikó Szeverényi
- , Stuart Avery
- , Brian D O'Connor
- , Stanley F Nelson
- , Stephanie E Coats
- , Arlene Stewart
- , Lesley Christie
- , Gabriella Pichert
- , Jean Friedel
- , Ian Hayes
- , Nigel Burrows
- , Sean Whittaker
- , Anne-Marie Gerdes
- , Sigurd Broesby-Olsen
- , Malcolm A Ferguson-Smith
- , Chandra Verma
- , Declan P Lunny
- , Bruno Reversade
- & E Birgitte Lane
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