Showing 1–39 of 39 results
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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
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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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Ghayda M. Mirzaa
- , Jessica X. Chong
- , Amélie Piton
- , Bernt Popp
- , Kimberly Foss
- , Hui Guo
- , Ricardo Harripaul
- , Kun Xia
- , Joshua Scheck
- , Kimberly A. Aldinger
- , Samin A. Sajan
- , Sha Tang
- , Dominique Bonneau
- , Anita Beck
- , Janson White
- , Sonal Mahida
- , Jacqueline Harris
- , Constance Smith-Hicks
- , Juliane Hoyer
- , Christiane Zweier
- , André Reis
- , Christian T. Thiel
- , Rami Abou Jamra
- , Natasha Zeid
- , Amy Yang
- , Laura S. Farach
- , Laurence Walsh
- , Katelyn Payne
- , Luis Rohena
- , Milen Velinov
- , Alban Ziegler
- , Elise Schaefer
- , Vincent Gatinois
- , David Geneviève
- , Marleen E. H. Simon
- , Jennefer Kohler
- , Joshua Rotenberg
- , Patricia Wheeler
- , Austin Larson
- , Michelle E. Ernst
- , Cigdem I. Akman
- , Rachel Westman
- , Patricia Blanchet
- , Lori-Anne Schillaci
- , Catherine Vincent-Delorme
- , Karen W. Gripp
- , Francesca Mattioli
- , Gwenaël Le Guyader
- , Bénédicte Gerard
- , Michèle Mathieu-Dramard
- , Gilles Morin
- , Roksana Sasanfar
- , Muhammad Ayub
- , Nasim Vasli
- , Sandra Yang
- , Rick Person
- , Kristin G. Monaghan
- , Deborah A. Nickerson
- , Ellen van Binsbergen
- , Gregory M. Enns
- , Annika M. Dries
- , Leah J. Rowe
- , Anne C. H. Tsai
- , Shayna Svihovec
- , Jennifer Friedman
- , Zehra Agha
- , Raheel Qamar
- , Lance H. Rodan
- , Julian Martinez-Agosto
- , Charlotte W. Ockeloen
- , Marie Vincent
- , William James Sunderland
- , Jonathan A. Bernstein
- , Evan E. Eichler
- , John B. Vincent
- & Michael J. Bamshad
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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
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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
Extracellular vesicles from human urine-derived stem cells prevent osteoporosis by transferring CTHRC1 and OPG
- Chun-Yuan Chen
- , Shan-Shan Rao
- , Yi-Juan Tan
- , Ming-Jie Luo
- , Xiong-Ke Hu
- , Hao Yin
- , Jie Huang
- , Yin Hu
- , Zhong-Wei Luo
- , Zheng-Zhao Liu
- , Zhen-Xing Wang
- , Jia Cao
- , Yi-Wei Liu
- , Hong-Ming Li
- , Yang Chen
- , Wei Du
- , Jiang-Hua Liu
- , Yan Zhang
- , Tuan-Hui Chen
- , Hao-Ming Liu
- , Ben Wu
- , Tao Yue
- , Yi-Yi Wang
- , Kun Xia
- , Peng-Fei Lei
- , Si-Yuan Tang
- & Hui Xie
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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
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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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Research | | Open
De novo genic mutations among a Chinese autism spectrum disorder cohort
- Tianyun Wang
- , Hui Guo
- , Bo Xiong
- , Holly A.F. Stessman
- , Huidan Wu
- , Bradley P. Coe
- , Tychele N. Turner
- , Yanling Liu
- , Wenjing Zhao
- , Kendra Hoekzema
- , Laura Vives
- , Lu Xia
- , Meina Tang
- , Jianjun Ou
- , Biyuan Chen
- , Yidong Shen
- , Guanglei Xun
- , Min Long
- , Janice Lin
- , Zev N. Kronenberg
- , Yu Peng
- , Ting Bai
- , Honghui Li
- , Xiaoyan Ke
- , Zhengmao Hu
- , Jingping Zhao
- , Xiaobing Zou
- , Kun Xia
- & Evan E. Eichler
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Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
- Sheng-Quan Zhang
- , Tao Jiang
- , Min Li
- , Xin Zhang
- , Yun-Qing Ren
- , Sheng-Cai Wei
- , Liang-Dan Sun
- , Hui Cheng
- , Yang Li
- , Xian-Yong Yin
- , Zheng-Mao Hu
- , Zhen-Ying Wang
- , Yuan Liu
- , Bi-Rong Guo
- , Hua-Yang Tang
- , Xian-Fa Tang
- , Yan-Tao Ding
- , Jian-Bo Wang
- , Ping Li
- , Bao-Yu Wu
- , Wen Wang
- , Xiang-Feng Yuan
- , Jun-Sheng Hou
- , Wei-Wei Ha
- , Wen-Ju Wang
- , Yu-Juan Zhai
- , Jing Wang
- , Fang-Fang Qian
- , Fu-Sheng Zhou
- , Gang Chen
- , Xian-Bo Zuo
- , Xiao-Dong Zheng
- , Yu-Jun Sheng
- , Jin-Ping Gao
- , Bo Liang
- , Pan Li
- , Jun Zhu
- , Feng-Li Xiao
- , Pei-Guang Wang
- , Yong Cui
- , Hui Li
- , Sheng-Xiu Liu
- , Min Gao
- , Xing Fan
- , Song-Ke Shen
- , Ming Zeng
- , Guang-Qing Sun
- , Yu Xu
- , Jing-Chu Hu
- , Ting-Ting He
- , Ying-Rui Li
- , Huan-Ming Yang
- , Jian Wang
- , Zhong-Yi Yu
- , Hui-Feng Zhang
- , Xin Hu
- , Ke Yang
- , Jie Wang
- , Shi-Xiang Zhao
- , You-Wen Zhou
- , Jian-Jun Liu
- , Wei-Dong Du
- , Li Zhang
- , Kun Xia
- , Sen Yang
- , Jun Wang
- & Xue-Jun Zhang
