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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
-
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
Neural responsivity to social rewards in autistic female youth
- Katherine E. Lawrence
- , Leanna M. Hernandez
- , Jeffrey Eilbott
- , Allison Jack
- , Elizabeth Aylward
- , Nadine Gaab
- , John D. Van Horn
- , Raphael A. Bernier
- , Daniel H. Geschwind
- , James C. McPartland
- , Charles A. Nelson
- , Sara J. Webb
- , Kevin A. Pelphrey
- , Susan Y. Bookheimer
- , Mirella Dapretto
- , Elizabeth Aylward
- , Raphael A. Bernier
- , Susan Y. Bookheimer
- , Mirella Dapretto
- , Nadine Gaab
- , Daniel H. Geschwind
- , Allison Jack
- , James C. McPartland
- , Charles A. Nelson
- , Kevin A. Pelphrey
- , John D. Van Horn
- , Sara J. Webb
- , Katy Ankenman
- , Sarah Corrigan
- , Dianna Depedro-Mercier
- , Desiree Guilford
- , Abha R. Gupta
- , Zachary Jacokes
- , Shafali Jeste
- , Cara M. Keifer
- , Anna Kresse
- , Erin Libsack
- , Jennifer K. Lowe
- , Erin MacDonnell
- , Nicole McDonald
- , Adam Naples
- , Emily Neuhaus
- , Catherine A. W. Sullivan
- , Heidi Tsapelas
- , Carinna M. Torgerson
- , Pamela Ventola
- , Olivia Welker
- & Julie Wolf
-
Amendments and Corrections | | Open
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication
- Maria Niarchou
- , Samuel J. R. A. Chawner
- , Joanne L. Doherty
- , Anne M. Maillard
- , Sébastien Jacquemont
- , Wendy K. Chung
- , LeeAnne Green-Snyder
- , Raphael A. Bernier
- , Robin P. Goin-Kochel
- , Ellen Hanson
- , David E. J. Linden
- , Stefanie C. Linden
- , F. Lucy Raymond
- , David Skuse
- , Jeremy Hall
- , Michael J. Owen
- & Marianne B. M. van den Bree
-
Research | | Open
Psychiatric disorders in children with 16p11.2 deletion and duplication
- Maria Niarchou
- , Samuel J. R. A. Chawner
- , Joanne L. Doherty
- , Anne M. Maillard
- , Sébastien Jacquemont
- , Wendy K. Chung
- , LeeAnne Green-Snyder
- , Raphael A. Bernier
- , Robin P. Goin-Kochel
- , Ellen Hanson
- , David E. J. Linden
- , Stefanie C. Linden
- , F. Lucy Raymond
- , David Skuse
- , Jeremy Hall
- , Michael J. Owen
- & Marianne B. M. van den Bree
-
Research | | Open
-
Research |
Mapping and characterization of structural variation in 17,795 human genomes
- Haley J. Abel
- , David E. Larson
- , Allison A. Regier
- , Colby Chiang
- , Indraniel Das
- , Krishna L. Kanchi
- , Ryan M. Layer
- , Benjamin M. Neale
- , William J. Salerno
- , Catherine Reeves
- , Steven Buyske
- , Goncalo R. Abecasis
- , Elizabeth Appelbaum
- , Julie Baker
- , Eric Banks
- , Raphael A. Bernier
- , Toby Bloom
- , Michael Boehnke
- , Eric Boerwinkle
- , Erwin P. Bottinger
- , Steven R. Brant
- , Esteban G. Burchard
- , Carlos D. Bustamante
- , Lei Chen
- , Judy H. Cho
- , Rajiv Chowdhury
- , Ryan Christ
- , Lisa Cook
- , Matthew Cordes
- , Laura Courtney
- , Michael J. Cutler
- , Mark J. Daly
- , Scott M. Damrauer
- , Robert B. Darnell
- , Tracie Deluca
- , Huyen Dinh
- , Harsha Doddapaneni
- , Evan E. Eichler
- , Patrick T. Ellinor
- , Andres M. Estrada
- , Yossi Farjoun
- , Adam Felsenfeld
- , Tatiana Foroud
- , Nelson B. Freimer
- , Catrina Fronick
- , Lucinda Fulton
- , Robert Fulton
- , Stacy Gabriel
- , Liron Ganel
- , Shailu Gargeya
- , Goren Germer
- , Daniel H. Geschwind
- , Richard A. Gibbs
- , David B. Goldstein
- , Megan L. Grove
- , Namrata Gupta
- , Christopher A. Haiman
- , Yi Han
- , Daniel Howrigan
- , Jianhong Hu
- , Carolyn Hutter
- , Ivan Iossifov
- , Bo Ji
- , Lynn B. Jorde
- , Goo Jun
- , John Kane
- , Chul Joo Kang
- , Hyun Min Kang
- , Sek Kathiresan
- , Eimear E. Kenny
- , Lily Khaira
- , Ziad Khan
- , Amit Khera
- , Charles Kooperberg
- , Olga Krasheninina
- , William E. Kraus
- , Subra Kugathasan
- , Markku Laakso
- , Tuuli Lappalainen
- , Adam E. Locke
- , Ruth J. F. Loos
- , Amy Ly
- , Robert Maier
- , Tom Maniatis
- , Loic Le Marchand
- , Gregory M. Marcus
- , Richard P. Mayeux
- , Dermot P. B. McGovern
- , Karla S. Mendoza
- , Vipin Menon
- , Ginger A. Metcalf
- , Zeineen Momin
- , Guiseppe Narzisi
- , Joanne Nelson
- , Caitlin Nessner
- , Rodney D. Newberry
- , Kari E. North
- , Aarno Palotie
- , Ulrike Peters
- , Jennifer Ponce
- , Clive Pullinger
- , Aaron Quinlan
- , Daniel J. Rader
- , Stephen S. Rich
- , Samuli Ripatti
- , Dan M. Roden
- , Veikko Salomaa
- , Jireh Santibanez
- , Svati H. Shah
- , M. Benjamin Shoemaker
- , Heidi Sofia
- , Taylorlyn Stephan
- , Christine Stevens
- , Stephan R. Targan
- , Marja-Riitta Taskinen
- , Kathleen Tibbetts
- , Charlotte Tolonen
- , Tychele Turner
- , Paul De Vries
- , Jason Waligorski
- , Kimberly Walker
- , Vivian Ota Wang
- , Michael Wigler
- , Richard K. Wilson
- , Lara Winterkorn
- , Genevieve Wojcik
- , Jinchuan Xing
- , Erica Young
- , Bing Yu
- , Yeting Zhang
- , Tara C. Matise
- , Donna M. Muzny
- , Michael C. Zody
- , Eric S. Lander
- , Susan K. Dutcher
- , Nathan O. Stitziel
- & Ira M. Hall
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Reviews |
A framework for an evidence-based gene list relevant to autism spectrum disorder
- Christian P. Schaaf
- , Catalina Betancur
- , Ryan K. C. Yuen
- , Jeremy R. Parr
- , David H. Skuse
- , Louise Gallagher
- , Raphael A. Bernier
- , Janet A. Buchanan
- , Joseph D. Buxbaum
- , Chun-An Chen
- , Kira A. Dies
- , Mayada Elsabbagh
- , Helen V. Firth
- , Thomas Frazier
- , Ny Hoang
- , Jennifer Howe
- , Christian R. Marshall
- , Jacques L. Michaud
- , Olivia Rennie
- , Peter Szatmari
- , Wendy K. Chung
- , Patrick F. Bolton
- , Edwin H. Cook
- , Stephen W. Scherer
- & Jacob A. S. Vorstman
-
Research | | Open
Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity
- Leanna M. Hernandez
- , Katherine E. Lawrence
- , N. Tanya Padgaonkar
- , Marisa Inada
- , Jackson N. Hoekstra
- , Jennifer K. Lowe
- , Jeffrey Eilbott
- , Allison Jack
- , Elizabeth Aylward
- , Nadine Gaab
- , John D. Van Horn
- , Raphael A. Bernier
- , James C. McPartland
- , Sara J. Webb
- , Kevin A. Pelphrey
- , Shulamite A. Green
- , Daniel H. Geschwind
- , Susan Y. Bookheimer
- & Mirella Dapretto
-
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 | | Open
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Vincenzo Salpietro
- , Christine L. Dixon
- , Hui Guo
- , Oscar D. Bello
- , Jana Vandrovcova
- , Stephanie Efthymiou
- , Reza Maroofian
- , Gali Heimer
- , Lydie Burglen
- , Stephanie Valence
- , Erin Torti
- , Moritz Hacke
- , Julia Rankin
- , Huma Tariq
- , Estelle Colin
- , Vincent Procaccio
- , Pasquale Striano
- , Kshitij Mankad
- , Andreas Lieb
- , Sharon Chen
- , Laura Pisani
- , Conceicao Bettencourt
- , Roope Männikkö
- , Andreea Manole
- , Alfredo Brusco
- , Enrico Grosso
- , Giovanni Battista Ferrero
- , Judith Armstrong-Moron
- , Sophie Gueden
- , Omer Bar-Yosef
- , Michal Tzadok
- , Kristin G. Monaghan
- , Teresa Santiago-Sim
- , Richard E. Person
- , Megan T. Cho
- , Rebecca Willaert
- , Yongjin Yoo
- , Jong-Hee Chae
- , Yingting Quan
- , Huidan Wu
- , Tianyun Wang
- , Raphael A. Bernier
- , Kun Xia
- , Alyssa Blesson
- , Mahim Jain
- , Mohammad M. Motazacker
- , Bregje Jaeger
- , Amy L. Schneider
- , Katja Boysen
- , Alison M. Muir
- , Candace T. Myers
- , Ralitza H. Gavrilova
- , Lauren Gunderson
- , Laura Schultz-Rogers
- , Eric W. Klee
- , David Dyment
- , Matthew Osmond
- , Mara Parellada
- , Cloe Llorente
- , Javier Gonzalez-Peñas
- , Angel Carracedo
- , Arie Van Haeringen
- , Claudia Ruivenkamp
- , Caroline Nava
- , Delphine Heron
- , Rosaria Nardello
- , Michele Iacomino
- , Carlo Minetti
- , Aldo Skabar
- , Antonella Fabretto
- , Michael G. Hanna
- , Enrico Bugiardini
- , Isabel Hostettler
- , Benjamin O’Callaghan
- , Alaa Khan
- , Andrea Cortese
- , Emer O’Connor
- , Wai Y. Yau
- , Thomas Bourinaris
- , Rauan Kaiyrzhanov
- , Viorica Chelban
- , Monika Madej
- , Maria C. Diana
- , Maria S. Vari
- , Marina Pedemonte
- , Claudio Bruno
- , Ganna Balagura
- , Marcello Scala
- , Chiara Fiorillo
- , Lino Nobili
- , Nancy T. Malintan
- , Maria N. Zanetti
- , Shyam S. Krishnakumar
- , Gabriele Lignani
- , James E. C. Jepson
- , Paolo Broda
- , Simona Baldassari
- , Pia Rossi
- , Floriana Fruscione
- , Francesca Madia
- , Monica Traverso
- , Patrizia De-Marco
- , Belen Pérez-Dueñas
- , Francina Munell
- , Yamna Kriouile
- , Mohamed El-Khorassani
- , Blagovesta Karashova
- , Daniela Avdjieva
- , Hadil Kathom
- , Radka Tincheva
- , Lionel Van-Maldergem
- , Wolfgang Nachbauer
- , Sylvia Boesch
- , Antonella Gagliano
- , Elisabetta Amadori
- , Jatinder S. Goraya
- , Tipu Sultan
- , Salman Kirmani
- , Shahnaz Ibrahim
- , Farida Jan
- , Jun Mine
- , Selina Banu
- , Pierangelo Veggiotti
- , Gian V. Zuccotti
- , Michel D. Ferrari
- , Arn M. J. Van Den Maagdenberg
- , Alberto Verrotti
- , Gian L. Marseglia
- , Salvatore Savasta
- , Miguel A. Soler
- , Carmela Scuderi
- , Eugenia Borgione
- , Roberto Chimenz
- , Eloisa Gitto
- , Valeria Dipasquale
- , Alessia Sallemi
- , Monica Fusco
- , Caterina Cuppari
- , Maria C. Cutrupi
- , Martino Ruggieri
- , Armando Cama
- , Valeria Capra
- , Niccolò E. Mencacci
- , Richard Boles
- , Neerja Gupta
- , Madhulika Kabra
- , Savvas Papacostas
- , Eleni Zamba-Papanicolaou
- , Efthymios Dardiotis
- , Shazia Maqbool
- , Nuzhat Rana
- , Osama Atawneh
- , Shen Y. Lim
- , Farooq Shaikh
- , George Koutsis
- , Marianthi Breza
- , Domenico A. Coviello
- , Yves A. Dauvilliers
- , Issam AlKhawaja
- , Mariam AlKhawaja
- , Fuad Al-Mutairi
- , Tanya Stojkovic
- , Veronica Ferrucci
- , Massimo Zollo
- , Fowzan S. Alkuraya
- , Maria Kinali
- , Hamed Sherifa
- , Hanene Benrhouma
- , Ilhem B. Y. Turki
- , Meriem Tazir
- , Makram Obeid
- , Sophia Bakhtadze
- , Nebal W. Saadi
- , Maha S. Zaki
- , Chahnez C. Triki
- , Fabio Benfenati
- , Stefano Gustincich
- , Majdi Kara
- , Vincenzo Belcastro
- , Nicola Specchio
- , Giuseppe Capovilla
- , Ehsan G. Karimiani
- , Ahmed M. Salih
- , Njideka U. Okubadejo
- , Oluwadamilola O. Ojo
- , Olajumoke O. Oshinaike
- , Olapeju Oguntunde
- , Kolawole Wahab
- , Abiodun H. Bello
- , Sanni Abubakar
- , Yahaya Obiabo
- , Ernest Nwazor
- , Oluchi Ekenze
- , Uduak Williams
- , Alagoma Iyagba
- , Lolade Taiwo
- , Morenikeji Komolafe
- , Konstantin Senkevich
- , Chingiz Shashkin
- , Nazira Zharkynbekova
- , Kairgali Koneyev
- , Ganieva Manizha
- , Maksud Isrofilov
- , Ulviyya Guliyeva
- , Kamran Salayev
- , Samson Khachatryan
- , Salvatore Rossi
- , Gabriella Silvestri
- , Nourelhoda Haridy
- , Luca A. Ramenghi
- , Georgia Xiromerisiou
- , Emanuele David
- , Mhammed Aguennouz
- , Liana Fidani
- , Cleanthe Spanaki
- , Arianna Tucci
- , Miquel Raspall-Chaure
- , Michael Chez
- , Anne Tsai
- , Emily Fassi
- , Marwan Shinawi
- , John N. Constantino
- , Rita De Zorzi
- , Sara Fortuna
- , Fernando Kok
- , Boris Keren
- , Dominique Bonneau
- , Murim Choi
- , Bruria Benzeev
- , Federico Zara
- , Heather C. Mefford
- , Ingrid E. Scheffer
- , Jill Clayton-Smith
- , Alfons Macaya
- , James E. Rothman
- , Evan E. Eichler
- , Dimitri M. Kullmann
- & Henry Houlden
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Research | | Open
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
- Pamela Feliciano
- , Xueya Zhou
- , Irina Astrovskaya
- , Tychele N. Turner
- , Tianyun Wang
- , Leo Brueggeman
- , Rebecca Barnard
- , Alexander Hsieh
- , LeeAnne Green Snyder
- , Donna M. Muzny
- , Aniko Sabo
- , Leonard Abbeduto
- , John Acampado
- , Andrea J. Ace
- , Charles Albright
- , Michael Alessandri
- , David G. Amaral
- , Alpha Amatya
- , Robert D. Annett
- , Ivette Arriaga
- , Ethan Bahl
- , Adithya Balasubramanian
- , Nicole Bardett
- , Asif Bashar
- , Arthur Beaudet
- , Landon Beeson
- , Raphael A. Bernier
- , Elizabeth Berry-Kravis
- , Stephanie Booker
- , Stephanie J. Brewster
- , Elizabeth Brooks
- , Martin E. Butler
- , Eric M. Butter
- , Kristen Callahan
- , Alexies Camba
- , Sarah Carpenter
- , Nicholas Carriero
- , Lindsey A. Cartner
- , Ahmad S. Chatha
- , Wubin Chin
- , Renee D. Clark
- , Cheryl Cohen
- , Eric Courchesne
- , Joseph F. Cubells
- , Mary Hannah Currin
- , Amy M. Daniels
- , Lindsey DeMarco
- , Megan Y. Dennis
- , Gabriel S. Dichter
- , Yan Ding
- , Huyen Dinh
- , Ryan Doan
- , HarshaVardhan Doddapaneni
- , Sara Eldred
- , Christine Eng
- , Craig A. Erickson
- , Amy Esler
- , Ali Fatemi
- , Gregory J. Fischer
- , Ian Fisk
- , Eric J. Fombonne
- , Emily A. Fox
- , Sunday Francis
- , Sandra L. Friedman
- , Swami Ganesan
- , Michael Garrett
- , Vahid Gazestani
- , Madeleine R. Geisheker
- , Jennifer A. Gerdts
- , Daniel H. Geschwind
- , Robin P. Goin-Kochel
- , Anthony J. Griswold
- , Luke P. Grosvenor
- , Angela J. Gruber
- , Amanda C. Gulsrud
- , Jaclyn Gunderson
- , Anibal Gutierrez
- , Melissa N. Hale
- , Monica Haley
- , Jacob B. Hall
- , Kira E. Hamer
- , Bing Han
- , Nathan Hanna
- , Christina Harkins
- , Nina Harris
- , Brenda Hauf
- , Caitlin Hayes
- , Susan L. Hepburn
- , Lynette M. Herbert
- , Michelle Heyman
- , Brittani A. Phillips
- , Susannah Horner
- , Jianhong Hu
- , Lark Y. Huang-Storms
- , Hanna Hutter
- , Dalia Istephanous
- , Suma Jacob
- , William Jensen
- , Mark Jones
- , Michelle Jordy
- , A. Pablo Juarez
- , Stephen Kanne
- , Hannah E. Kaplan
- , Matt Kent
- , Alex Kitaygorodsky
- , Tanner Koomar
- , Viktoriya Korchina
- , Anthony D. Krentz
- , Hoa Lam Schneider
- , Elena Lamarche
- , Rebecca J. Landa
- , Alex E. Lash
- , J. Kiely Law
- , Noah Lawson
- , Kevin Layman
- , Holly Lechniak
- , Sandra Lee
- , Soo J. Lee
- , Daniel Lee Coury
- , Christa Lese Martin
- , Deana Li
- , Hai Li
- , Natasha Lillie
- , Xiuping Liu
- , Catherine Lord
- , Malcolm D. Mallardi
- , Patricia Manning
- , Julie Manoharan
- , Richard Marini
- , Gabriela Marzano
- , Andrew Mason
- , Emily T. Matthews
- , James T. McCracken
- , Alexander P. McKenzie
- , Zeineen Momin
- , Michael J. Morrier
- , Shwetha Murali
- , Vincent J. Myers
- , Jason Neely
- , Caitlin Nessner
- , Amy Nicholson
- , Kaela O’Brien
- , Eirene O’Connor
- , Cesar Ochoa-Lubinoff
- , Jessica Orobio
- , Opal Y. Ousley
- , Lillian D. Pacheco
- , Juhi Pandey
- , Anna Marie Paolicelli
- , Katherine G. Pawlowski
- , Karen L. Pierce
- , Joseph Piven
- , Samantha Plate
- , Marc Popp
- , Tiziano Pramparo
- , Lisa M. Prock
- , Hongjian Qi
- , Shanping Qiu
- , Angela L. Rachubinski
- , Kshitij Rajbhandari
- , Rishiraj Rana
- , Rick Remington
- , Catherine E. Rice
- , Chris Rigby
- , Beverly E. Robertson
- , Katherine Roeder
- , Cordelia R. Rosenberg
- , Nicole Russo-Ponsaran
- , Elizabeth Ruzzo
- , Mustafa Sahin
- , Andrei Salomatov
- , Sophia Sandhu
- , Susan Santangelo
- , Dustin E. Sarver
- , Jessica Scherr
- , Robert T. Schultz
- , Kathryn A. Schweers
- , Swapnil Shah
- , Tamim Shaikh
- , Amanda D. Shocklee
- , Laura Simon
- , Andrea R. Simon
- , Vini Singh
- , Steve Skinner
- , Kaitlin Smith
- , Christopher J. Smith
- , Latha V. Soorya
- , Aubrie Soucy
- , Alexandra N. Stephens
- , Colleen M. Stock
- , James S. Sutcliffe
- , Amy Swanson
- , Maira Tafolla
- , Nicole Takahashi
- , Taylor Thomas
- , Carrie Thomas
- , Samantha Thompson
- , Jennifer Tjernagel
- , Bonnie Van Metre
- , Jeremy Veenstra-Vanderweele
- , Brianna M. Vernoia
- , Jermel Wallace
- , Corrie H. Walston
- , Jiayao Wang
- , Zachary Warren
- , Lucy Wasserburg
- , Loran Casey White
- , Sabrina White
- , Ericka L. Wodka
- , Simon Xu
- , Wha S. Yang
- , Meredith Yinger
- , Timothy Yu
- , Lan Zang
- , Hana Zaydens
- , Haicang Zhang
- , Haoquan Zhao
- , Richard A. Gibbs
- , Evan E. Eichler
- , Brian J. O’Roak
- , Jacob J. Michaelson
- , Natalia Volfovsky
- , Yufeng Shen
- & Wendy K. Chung
-
Research |
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Research |
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Research |
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Sandra Jansen
- , Alexander Hoischen
- , Bradley P. Coe
- , Gemma L. Carvill
- , Hilde Van Esch
- , Daniëlle G. M. Bosch
- , Ulla A. Andersen
- , Carl Baker
- , Marijke Bauters
- , Raphael A. Bernier
- , Bregje W. van Bon
- , Hedi L. Claahsen-van der Grinten
- , Jozef Gecz
- , Christian Gilissen
- , Lucia Grillo
- , Anna Hackett
- , Tjitske Kleefstra
- , David Koolen
- , Malin Kvarnung
- , Martin J. Larsen
- , Carlo Marcelis
- , Fiona McKenzie
- , Marie-Lorraine Monin
- , Caroline Nava
- , Janneke H. Schuurs-Hoeijmakers
- , Rolph Pfundt
- , Marloes Steehouwer
- , Servi J. C. Stevens
- , Connie T. Stumpel
- , Fleur Vansenne
- , Mirella Vinci
- , Maartje van de Vorst
- , Petra de Vries
- , Kali Witherspoon
- , Joris A. Veltman
- , Han G. Brunner
- , Heather C. Mefford
- , Corrado Romano
- , Lisenka E. L. M. Vissers
- , Evan E. Eichler
- & Bert B. A. de Vries
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Research |
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
- Madeleine R Geisheker
- , Gabriel Heymann
- , Tianyun Wang
- , Bradley P Coe
- , Tychele N Turner
- , Holly A F Stessman
- , Kendra Hoekzema
- , Malin Kvarnung
- , Marie Shaw
- , Kathryn Friend
- , Jan Liebelt
- , Christopher Barnett
- , Elizabeth M Thompson
- , Eric Haan
- , Hui Guo
- , Britt-Marie Anderlid
- , Ann Nordgren
- , Anna Lindstrand
- , Geert Vandeweyer
- , Antonino Alberti
- , Emanuela Avola
- , Mirella Vinci
- , Stefania Giusto
- , Tiziano Pramparo
- , Karen Pierce
- , Srinivasa Nalabolu
- , Jacob J Michaelson
- , Zdenek Sedlacek
- , Gijs W E Santen
- , Hilde Peeters
- , Hakon Hakonarson
- , Eric Courchesne
- , Corrado Romano
- , R Frank Kooy
- , Raphael A Bernier
- , Magnus Nordenskjöld
- , Jozef Gecz
- , Kun Xia
- , Larry S Zweifel
- & Evan E Eichler
-
Research |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- Holly A F Stessman
- , Bo Xiong
- , Bradley P Coe
- , Tianyun Wang
- , Kendra Hoekzema
- , Michaela Fenckova
- , Malin Kvarnung
- , Jennifer Gerdts
- , Sandy Trinh
- , Nele Cosemans
- , Laura Vives
- , Janice Lin
- , Tychele N Turner
- , Gijs Santen
- , Claudia Ruivenkamp
- , Marjolein Kriek
- , Arie van Haeringen
- , Emmelien Aten
- , Kathryn Friend
- , Jan Liebelt
- , Christopher Barnett
- , Eric Haan
- , Marie Shaw
- , Jozef Gecz
- , Britt-Marie Anderlid
- , Ann Nordgren
- , Anna Lindstrand
- , Charles Schwartz
- , R Frank Kooy
- , Geert Vandeweyer
- , Celine Helsmoortel
- , Corrado Romano
- , Antonino Alberti
- , Mirella Vinci
- , Emanuela Avola
- , Stefania Giusto
- , Eric Courchesne
- , Tiziano Pramparo
- , Karen Pierce
- , Srinivasa Nalabolu
- , David G Amaral
- , Ingrid E Scheffer
- , Martin B Delatycki
- , Paul J Lockhart
- , Fereydoun Hormozdiari
- , Benjamin Harich
- , Anna Castells-Nobau
- , Kun Xia
- , Hilde Peeters
- , Magnus Nordenskjöld
- , Annette Schenck
- , Raphael A Bernier
- & Evan E Eichler
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