Showing 1–50 of 78 results
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Comments and Opinion |
COVID-19’s Impact on Genetics at One Medical Center in New York
- Elaine M. Pereira
- , Priyanka Ahimaz
- , Carli Andrews
- , Kwame Anyane-Yeboa
- , Todor Arsov
- , Sara M. Berger
- , Ilana Chilton
- , Diana M. Cory
- , Wendy K. Chung
- , Katia R. Dergham
- , Michele M. Disco
- , Michelle E. Ernst
- , Tamar Forman
- , Stephanie Galloway
- , Alexa R. Geltzeiler
- , Jessica L. Giordano
- , Emily Griffin
- , Edwin Guzman
- , Nina Harkavy
- , Rebecca Hernan
- , Anah K. Hetzler
- , Alejandro Iglesias
- , Rupinder Kakar
- , Catherine Kentros
- , Thandiwe C. Khonje
- , Carrie Koval
- , Elana Levinson
- , Elaine M. Pereira
- , Scott Robinson
- , Meredith J. Ross
- , Fatema Sadeque-Iqbal
- , Erica Spiegel
- , Elana Spitz
- , Ronald J. Wapner
- & Wendy K. Chung
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Research |
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Correspondence |
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Research | | Open
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
- Meena Balasubramanian
- , Alexander J. M. Dingemans
- , Shadi Albaba
- , Ruth Richardson
- , Thabo M. Yates
- , Helen Cox
- , Sofia Douzgou
- , Ruth Armstrong
- , Francis H. Sansbury
- , Katherine B. Burke
- , Andrew E. Fry
- , Nicola Ragge
- , Saba Sharif
- , Alison Foster
- , Annachiara De Sandre-Giovannoli
- , Sahar Elouej
- , Pradeep Vasudevan
- , Sahar Mansour
- , Kate Wilson
- , Helen Stewart
- , Solveig Heide
- , Caroline Nava
- , Boris Keren
- , Serwet Demirdas
- , Alice S. Brooks
- , Marie Vincent
- , Bertrand Isidor
- , Sebastien Küry
- , Meyke Schouten
- , Erika Leenders
- , Wendy K. Chung
- , Arie van Haeringen
- , Thomas Scheffner
- , Francois-Guillaume Debray
- , Susan M. White
- , Maria Irene Valenzuela Palafoll
- , Rolph Pfundt
- , Ruth Newbury-Ecob
- & Tjitske Kleefstra
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Research |
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
- Chiara Klöckner
- , Heinrich Sticht
- , Pia Zacher
- , Bernt Popp
- , Holly E. Babcock
- , Dewi P. Bakker
- , Katy Barwick
- , Michaela V. Bonfert
- , Carsten G. Bönnemann
- , Eva H. Brilstra
- , Wendy K. Chung
- , Angus J. Clarke
- , Patrick Devine
- , Sandra Donkervoort
- , Jamie L. Fraser
- , Jennifer Friedman
- , Alyssa Gates
- , Jamal Ghoumid
- , Emma Hobson
- , Gabriella Horvath
- , Jennifer Keller-Ramey
- , Boris Keren
- , Manju A. Kurian
- , Virgina Lee
- , Kathleen A. Leppig
- , Johan Lundgren
- , Marie T. McDonald
- , Amy McTague
- , Heather C. Mefford
- , Cyril Mignot
- , Mohamad A. Mikati
- , Caroline Nava
- , F. Lucy Raymond
- , Julian R. Sampson
- , Alba Sanchis-Juan
- , Vandana Shashi
- , Joseph T. C. Shieh
- , Marwan Shinawi
- , Anne Slavotinek
- , Tommy Stödberg
- , Nicholas Stong
- , Jennifer A. Sullivan
- , Ashley C. Taylor
- , Tomi L. Toler
- , Marie-José van den Boogaard
- , Saskia N. van der Crabben
- , Koen L. I. van Gassen
- , Richard H. van Jaarsveld
- , Jessica Van Ziffle
- , Alexandrea F. Wadley
- , Matias Wagner
- , Kristen Wigby
- , Saskia B. Wortmann
- , Yuri A. Zarate
- , Rikke S. Møller
- , Johannes R. Lemke
- & Konrad Platzer
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Research | | Open
Common germline-somatic variant interactions in advanced urothelial cancer
- Aram Vosoughi
- , Tuo Zhang
- , Kyrillus S. Shohdy
- , Panagiotis J. Vlachostergios
- , David C. Wilkes
- , Bhavneet Bhinder
- , Scott T. Tagawa
- , David M. Nanus
- , Ana M. Molina
- , Himisha Beltran
- , Cora N. Sternberg
- , Samaneh Motanagh
- , Brian D. Robinson
- , Jenny Xiang
- , Xiao Fan
- , Wendy K. Chung
- , Mark A. Rubin
- , Olivier Elemento
- , Andrea Sboner
- , Juan Miguel Mosquera
- & Bishoy M. Faltas
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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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Amendments and Corrections | | Open
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Research | | Open
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
- Lisa Lenaerts
- , Sara Reynhout
- , Iris Verbinnen
- , Frédéric Laumonnier
- , Annick Toutain
- , Frédérique Bonnet-Brilhault
- , Yana Hoorne
- , Shelagh Joss
- , Anna K. Chassevent
- , Constance Smith-Hicks
- , Bart Loeys
- , Pascal Joset
- , Katharina Steindl
- , Anita Rauch
- , Sarju G. Mehta
- , Wendy K. Chung
- , Koenraad Devriendt
- , Susan E. Holder
- , Tamison Jewett
- , Lauren M. Baldwin
- , William G. Wilson
- , Shelley Towner
- , Siddharth Srivastava
- , Hannah F. Johnson
- , Cornelia Daumer-Haas
- , Martina Baethmann
- , Anna Ruiz
- , Elisabeth Gabau
- , Vani Jain
- , Vinod Varghese
- , Ali Al-Beshri
- , Stephen Fulton
- , Oded Wechsberg
- , Naama Orenstein
- , Katrina Prescott
- , Anne-Marie Childs
- , Laurence Faivre
- , Sébastien Moutton
- , Jennifer A. Sullivan
- , Vandana Shashi
- , Suzanne M. Koudijs
- , Malou Heijligers
- , Emma Kivuva
- , Amy McTague
- , Alison Male
- , Yvette van Ierland
- , Barbara Plecko
- , Isabelle Maystadt
- , Rizwan Hamid
- , Vickie L. Hannig
- , Gunnar Houge
- & Veerle Janssens
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Research | | Open
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Research | | Open
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- Cristopher V. Van Hout
- , Ioanna Tachmazidou
- , Joshua D. Backman
- , Joshua D. Hoffman
- , Daren Liu
- , Ashutosh K. Pandey
- , Claudia Gonzaga-Jauregui
- , Shareef Khalid
- , Bin Ye
- , Nilanjana Banerjee
- , Alexander H. Li
- , Colm O’Dushlaine
- , Anthony Marcketta
- , Jeffrey Staples
- , Claudia Schurmann
- , Alicia Hawes
- , Evan Maxwell
- , Leland Barnard
- , Alexander Lopez
- , John Penn
- , Lukas Habegger
- , Andrew L. Blumenfeld
- , Xiaodong Bai
- , Sean O’Keeffe
- , Ashish Yadav
- , Kavita Praveen
- , Marcus Jones
- , William J. Salerno
- , Wendy K. Chung
- , Ida Surakka
- , Cristen J. Willer
- , Kristian Hveem
- , Joseph B. Leader
- , David J. Carey
- , David H. Ledbetter
- , Lon Cardon
- , George D. Yancopoulos
- , Aris Economides
- , Giovanni Coppola
- , Alan R. Shuldiner
- , Suganthi Balasubramanian
- , Michael Cantor
- , Matthew R. Nelson
- , John Whittaker
- , Jeffrey G. Reid
- , Jonathan Marchini
- , John D. Overton
- , Robert A. Scott
- , Gonçalo R. Abecasis
- , Laura Yerges-Armstrong
- & Aris Baras
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Research |
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes
- Lu Qiao
- , Julia Wynn
- , Lan Yu
- , Rebecca Hernan
- , Xueya Zhou
- , Vincent Duron
- , Gudrun Aspelund
- , Christiana Farkouh-Karoleski
- , Annette Zygumunt
- , Usha S. Krishnan
- , Shannon Nees
- , Julie Khlevner
- , Foong Yen Lim
- , Timothy Crombleholme
- , Robert Cusick
- , Kenneth Azarow
- , Melissa Ellen Danko
- , Dai Chung
- , Brad W. Warner
- , George B. Mychaliska
- , Douglas Potoka
- , Amy J. Wagner
- , Samuel Soffer
- , David Schindel
- , David J. McCulley
- , Yufeng Shen
- & Wendy K. Chung
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Research |
Participant choices for return of genomic results in the eMERGE Network
- Christin Hoell
- , Julia Wynn
- , Luke V. Rasmussen
- , Keith Marsolo
- , Sharon A. Aufox
- , Wendy K. Chung
- , John J. Connolly
- , Robert R. Freimuth
- , David Kochan
- , Hakon Hakonarson
- , Margaret Harr
- , Ingrid A. Holm
- , Iftikhar J. Kullo
- , Philip E. Lammers
- , Kathleen A. Leppig
- , Nancy D. Leslie
- , Melanie F. Myers
- , Richard R. Sharp
- , Maureen E. Smith
- & Cynthia A. Prows
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Research |
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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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Research |
Frequency of genomic secondary findings among 21,915 eMERGE network participants
- Adam S. Gordon
- , Hana Zouk
- , Eric Venner
- , Christine M. Eng
- , Birgit H. Funke
- , Laura M. Amendola
- , David S. Carrell
- , Rex L. Chisholm
- , Wendy K. Chung
- , Joshua C. Denny
- , Alexander Fedotov
- , Hakon Hakonarson
- , Iftikhar J. Kullo
- , Eric B. Larson
- , Magalie S. Leduc
- , Kathleen A. Leppig
- , Niall J. Lennon
- , Jodell E. Linder
- , Donna M. Muzny
- , Cynthia A. Prows
- , Laura J. Rasmussen-Torvik
- , Hila Milo Rasouly
- , Dan M. Roden
- , Elisabeth A. Rosenthal
- , Maureen E. Smith
- , Ian B. Stanaway
- , Sara L. Van Driest
- , Kimberly Walker
- , Georgia L. Wiesner
- , Marc S. Williams
- , Leora Witkowski
- , David R. Crosslin
- , Richard A. Gibbs
- , Heidi L. Rehm
- & Gail P. Jarvik
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Amendments and Corrections |
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study
- Hila Milo Rasouly
- , Julia Wynn
- , Maddalena Marasa
- , Rachel Reingold
- , Debanjana Chatterjee
- , Sheena Kapoor
- , Stacy Piva
- , Byum Hee Kil
- , Xueru Mu
- , Maria Alvarez
- , Jordan Nestor
- , Karla Mehl
- , Anya Revah-Politi
- , Natalie Lippa
- , Michelle E. Ernst
- , Louise Bier
- , Aileen Espinal
- , Bianca Haser
- , Anoushka Sinha
- , Ian Halim
- , David Fasel
- , Nicole Cuneo
- , Jacqueline J. Thompson
- , Miguel Verbitsky
- , Elizabeth G. Cohn
- , Jill Goldman
- , Karen Marder
- , Robert L. Klitzman
- , Manuela A. Orjuela
- , Yat S. So
- , Alex Fedotov
- , Katherine D. Crew
- , Krzysztof Kiryluk
- , Paul S. Appelbaum
- , Chunhua Weng
- , Karolynn Siegel
- , Ali G. Gharavi
- & Wendy K. Chung
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Reviews |
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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
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Correspondence |
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Research |
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Correspondence |
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Amendments and Corrections | | Open
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
- Jean-Louis Guéant
- , Céline Chéry
- , Abderrahim Oussalah
- , Javad Nadaf
- , David Coelho
- , Thomas Josse
- , Justine Flayac
- , Aurélie Robert
- , Isabelle Koscinski
- , Isabelle Gastin
- , Pierre Filhine-Tresarrieu
- , Mihaela Pupavac
- , Alison Brebner
- , David Watkins
- , Tomi Pastinen
- , Alexandre Montpetit
- , Fadi Hariri
- , David Tregouët
- , Benjamin A Raby
- , Wendy K. Chung
- , Pierre-Emmanuel Morange
- , D. Sean Froese
- , Matthias R. Baumgartner
- , Jean-François Benoist
- , Can Ficicioglu
- , Virginie Marchand
- , Yuri Motorin
- , Chrystèle Bonnemains
- , François Feillet
- , Jacek Majewski
- & David S. Rosenblatt
-
Correspondence |
-
Research |
-
Amendments and Corrections |
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G M Bosch
- , Megan T Cho ScM
- , Jill A Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F Nienke Boonstra
- , Francisca Millan
- , Frans P M Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K Chung
- , Dmitriy Niyazov
- , Juan M Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M Hisama
- , Bert B A de Vries
- & Christian Schaaf
-
Research | | Open
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
- Daniel R. Barnes
- , Matti A. Rookus
- , Lesley McGuffog
- , Goska Leslie
- , Thea M. Mooij
- , Joe Dennis
- , Nasim Mavaddat
- , Julian Adlard
- , Munaza Ahmed
- , Kristiina Aittomäki
- , Nadine Andrieu
- , Irene L. Andrulis
- , Norbert Arnold
- , Banu K. Arun
- , Jacopo Azzollini
- , Judith Balmaña
- , Rosa B. Barkardottir
- , Daniel Barrowdale
- , Javier Benitez
- , Pascaline Berthet
- , Katarzyna Białkowska
- , Amie M. Blanco
- , Marinus J. Blok
- , Bernardo Bonanni
- , Susanne E. Boonen
- , Åke Borg
- , Aniko Bozsik
- , Angela R. Bradbury
- , Paul Brennan
- , Carole Brewer
- , Joan Brunet
- , Saundra S. Buys
- , Trinidad Caldés
- , Maria A. Caligo
- , Ian Campbell
- , Lise Lotte Christensen
- , Wendy K. Chung
- , Kathleen B. M. Claes
- , Chrystelle Colas
- , Pascaline Berthet
- , Chrystelle Colas
- , Marie-Agnès Collonge-Rame
- , Capucine Delnatte
- , Laurence Faivre
- , Sophie Giraud
- , Christine Lasset
- , Véronique Mari
- , Noura Mebirouk
- , Emmanuelle Mouret-Fourme
- , Hélène Schuster
- , Dominique Stoppa-Lyonnet
- , Julian Adlard
- , Munaza Ahmed
- , Antonis Antoniou
- , Daniel Barrowdale
- , Paul Brennan
- , Carole Brewer
- , Jackie Cook
- , Rosemarie Davidson
- , Douglas Easton
- , Ros Eeles
- , D. Gareth Evans
- , Debra Frost
- , Helen Hanson
- , Louise Izatt
- , Kai-ren Ong
- , Lucy Side
- , Aoife O’Shaughnessy-Kirwan
- , Marc Tischkowitz
- , Lisa Walker
- , Marie-Agnès Collonge-Rame
- , Jackie Cook
- , Mary B. Daly
- , Rosemarie Davidson
- , Miguel de la Hoya
- , Robin de Putter
- , Capucine Delnatte
- , Peter Devilee
- , Orland Diez
- , Yuan Chun Ding
- , Susan M. Domchek
- , Cecilia M. Dorfling
- , Martine Dumont
- , Ros Eeles
- , Bent Ejlertsen
- , Christoph Engel
- , D. Gareth Evans
- , Laurence Faivre
- , Lenka Foretova
- , Florentia Fostira
- , Michael Friedlander
- , Eitan Friedman
- , Debra Frost
- , Patricia A. Ganz
- , Judy Garber
- , Andrea Gehrig
- , Anne-Marie Gerdes
- , Paul Gesta
- , Sophie Giraud
- , Gord Glendon
- , Andrew K. Godwin
- , David E. Goldgar
- , Anna González-Neira
- , Mark H. Greene
- , Daphne Gschwantler-Kaulich
- , Eric Hahnen
- , Ute Hamann
- , Helen Hanson
- , Julia Hentschel
- , Frans B. L. Hogervorst
- , Maartje J. Hooning
- , Judit Horvath
- , Chunling Hu
- , Peter J. Hulick
- , Evgeny N. Imyanitov
- , Georgia Chenevix-Trench
- , Kelly-Anne Phillips
- , Amanda Spurdle
- , Marinus Blok
- , Peter Devilee
- , Frans Hogervorst
- , Maartje Hooning
- , Marco Koudijs
- , Arjen Mensenkamp
- , Hanne Meijers-Heijboer
- , Matti Rookus
- , Klaartje van Engelen
- , Nadine Andrieu
- , Catherine Noguès
- , Claudine Isaacs
- , Louise Izatt
- , Angel Izquierdo
- , Anna Jakubowska
- , Paul A. James
- , Ramunas Janavicius
- , Esther M. John
- , Vijai Joseph
- , Beth Y. Karlan
- , Karin Kast
- , Marco Koudijs
- , Torben A. Kruse
- , Ava Kwong
- , Yael Laitman
- , Christine Lasset
- , Conxi Lazaro
- , Jenny Lester
- , Fabienne Lesueur
- , Annelie Liljegren
- , Jennifer T. Loud
- , Jan Lubiński
- , Phuong L. Mai
- , Siranoush Manoukian
- , Véronique Mari
- , Noura Mebirouk
- , Hanne E. J. Meijers-Heijboer
- , Alfons Meindl
- , Arjen R. Mensenkamp
- , Austin Miller
- , Marco Montagna
- , Emmanuelle Mouret-Fourme
- , Semanti Mukherjee
- , Anna Marie Mulligan
- , Katherine L. Nathanson
- , Susan L. Neuhausen
- , Heli Nevanlinna
- , Dieter Niederacher
- , Finn Cilius Nielsen
- , Liene Nikitina-Zake
- , Catherine Noguès
- , Edith Olah
- , Olufunmilayo I. Olopade
- , Kai-ren Ong
- , Aoife O’Shaughnessy-Kirwan
- , Ana Osorio
- , Claus-Eric Ott
- , Laura Papi
- , Sue K. Park
- , Michael T. Parsons
- , Inge Sokilde Pedersen
- , Bernard Peissel
- , Ana Peixoto
- , Paolo Peterlongo
- , Georg Pfeiler
- , Kelly-Anne Phillips
- , Karolina Prajzendanc
- , Miquel Angel Pujana
- , Paolo Radice
- , Juliane Ramser
- , Susan J. Ramus
- , Johanna Rantala
- , Gad Rennert
- , Harvey A. Risch
- , Mark Robson
- , Karina Rønlund
- , Ritu Salani
- , Hélène Schuster
- , Leigha Senter
- , Payal D. Shah
- , Priyanka Sharma
- , Lucy E. Side
- , Christian F. Singer
- , Thomas P. Slavin
- , Penny Soucy
- , Melissa C. Southey
- , Amanda B. Spurdle
- , Doris Steinemann
- , Zoe Steinsnyder
- , Dominique Stoppa-Lyonnet
- , Christian Sutter
- , Yen Yen Tan
- , Manuel R. Teixeira
- , Soo Hwang Teo
- , Darcy L. Thull
- , Marc Tischkowitz
- , Silvia Tognazzo
- , Amanda E. Toland
- , Alison H. Trainer
- , Nadine Tung
- , Klaartje van Engelen
- , Elizabeth J. van Rensburg
- , Ana Vega
- , Jeroen Vierstraete
- , Gabriel Wagner
- , Lisa Walker
- , Shan Wang-Gohrke
- , Barbara Wappenschmidt
- , Jeffrey N. Weitzel
- , Siddhartha Yadav
- , Xin Yang
- , Drakoulis Yannoukakos
- , Dario Zimbalatti
- , Kenneth Offit
- , Mads Thomassen
- , Fergus J. Couch
- , Rita K. Schmutzler
- , Jacques Simard
- , Douglas F. Easton
- , Georgia Chenevix-Trench
- & Antonis C. Antoniou
-
Research |
-
Research |
Genomic analyses implicate noncoding de novo variants in congenital heart disease
- Felix Richter
- , Sarah U. Morton
- , Seong Won Kim
- , Alexander Kitaygorodsky
- , Lauren K. Wasson
- , Kathleen M. Chen
- , Jian Zhou
- , Hongjian Qi
- , Nihir Patel
- , Steven R. DePalma
- , Michael Parfenov
- , Jason Homsy
- , Joshua M. Gorham
- , Kathryn B. Manheimer
- , Matthew Velinder
- , Andrew Farrell
- , Gabor Marth
- , Eric E. Schadt
- , Jonathan R. Kaltman
- , Jane W. Newburger
- , Alessandro Giardini
- , Elizabeth Goldmuntz
- , Martina Brueckner
- , Richard Kim
- , George A. Porter Jr.
- , Daniel Bernstein
- , Wendy K. Chung
- , Deepak Srivastava
- , Martin Tristani-Firouzi
- , Olga G. Troyanskaya
- , Diane E. Dickel
- , Yufeng Shen
- , Jonathan G. Seidman
- , Christine E. Seidman
- & Bruce D. Gelb
-
Research |
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
- Volkan Okur
- , Megan T. Cho
- , Richard van Wijk
- , Brigitte van Oirschot
- , Jonathan Picker
- , Stephanie A. Coury
- , Dorothy Grange
- , Linda Manwaring
- , Ian Krantz
- , Colleen Clark Muraresku
- , Peter J. Hulick
- , Holley May
- , Eric Pierce
- , Emily Place
- , Kinga Bujakowska
- , Aida Telegrafi
- , Ganka Douglas
- , Kristin G. Monaghan
- , Amber Begtrup
- , Ashley Wilson
- , Kyle Retterer
- , Kwame Anyane-Yeboa
- & Wendy K. Chung
-
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 |
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
- Haoyu Zhang
- , Thomas U. Ahearn
- , Julie Lecarpentier
- , Daniel Barnes
- , Jonathan Beesley
- , Guanghao Qi
- , Xia Jiang
- , Tracy A. O’Mara
- , Ni Zhao
- , Manjeet K. Bolla
- , Alison M. Dunning
- , Joe Dennis
- , Qin Wang
- , Zumuruda Abu Ful
- , Kristiina Aittomäki
- , Irene L. Andrulis
- , Hoda Anton-Culver
- , Volker Arndt
- , Kristan J. Aronson
- , Banu K. Arun
- , Paul L. Auer
- , Jacopo Azzollini
- , Daniel Barrowdale
- , Heiko Becher
- , Matthias W. Beckmann
- , Sabine Behrens
- , Javier Benitez
- , Marina Bermisheva
- , Katarzyna Bialkowska
- , Ana Blanco
- , Carl Blomqvist
- , Natalia V. Bogdanova
- , Stig E. Bojesen
- , Bernardo Bonanni
- , Davide Bondavalli
- , Ake Borg
- , Hiltrud Brauch
- , Hermann Brenner
- , Ignacio Briceno
- , Annegien Broeks
- , Sara Y. Brucker
- , Thomas Brüning
- , Barbara Burwinkel
- , Saundra S. Buys
- , Helen Byers
- , Trinidad Caldés
- , Maria A. Caligo
- , Mariarosaria Calvello
- , Daniele Campa
- , Jose E. Castelao
- , Jenny Chang-Claude
- , Stephen J. Chanock
- , Melissa Christiaens
- , Hans Christiansen
- , Wendy K. Chung
- , Kathleen B. M. Claes
- , Christine L. Clarke
- , Sten Cornelissen
- , Fergus J. Couch
- , Angela Cox
- , Simon S. Cross
- , Kamila Czene
- , Mary B. Daly
- , Peter Devilee
- , Orland Diez
- , Susan M. Domchek
- , Thilo Dörk
- , Miriam Dwek
- , Diana M. Eccles
- , Arif B. Ekici
- , D. Gareth Evans
- , Peter A. Fasching
- , Jonine Figueroa
- , Lenka Foretova
- , Florentia Fostira
- , Eitan Friedman
- , Debra Frost
- , Manuela Gago-Dominguez
- , Susan M. Gapstur
- , Judy Garber
- , José A. García-Sáenz
- , Mia M. Gaudet
- , Simon A. Gayther
- , Graham G. Giles
- , Andrew K. Godwin
- , Mark S. Goldberg
- , David E. Goldgar
- , Anna González-Neira
- , Mark H. Greene
- , Jacek Gronwald
- , Pascal Guénel
- , Lothar Häberle
- , Eric Hahnen
- , Christopher A. Haiman
- , Christopher R. Hake
- , Per Hall
- , Ute Hamann
- , Elaine F. Harkness
- , Bernadette A. M. Heemskerk-Gerritsen
- , Peter Hillemanns
- , Frans B. L. Hogervorst
- , Bernd Holleczek
- , Antoinette Hollestelle
- , Maartje J. Hooning
- , Robert N. Hoover
- , John L. Hopper
- , Anthony Howell
- , Hanna Huebner
- , Peter J. Hulick
- , Evgeny N. Imyanitov
- , Claudine Isaacs
- , Louise Izatt
- , Agnes Jager
- , Milena Jakimovska
- , Anna Jakubowska
- , Paul James
- , Ramunas Janavicius
- , Wolfgang Janni
- , Esther M. John
- , Michael E. Jones
- , Audrey Jung
- , Rudolf Kaaks
- , Pooja Middha Kapoor
- , Beth Y. Karlan
- , Renske Keeman
- , Sofia Khan
- , Elza Khusnutdinova
- , Cari M. Kitahara
- , Yon-Dschun Ko
- , Irene Konstantopoulou
- , Linetta B. Koppert
- , Stella Koutros
- , Vessela N. Kristensen
- , Anne-Vibeke Laenkholm
- , Diether Lambrechts
- , Susanna C. Larsson
- , Pierre Laurent-Puig
- , Conxi Lazaro
- , Emilija Lazarova
- , Flavio Lejbkowicz
- , Goska Leslie
- , Fabienne Lesueur
- , Annika Lindblom
- , Jolanta Lissowska
- , Wing-Yee Lo
- , Jennifer T. Loud
- , Jan Lubinski
- , Alicja Lukomska
- , Robert J. MacInnis
- , Arto Mannermaa
- , Mehdi Manoochehri
- , Siranoush Manoukian
- , Sara Margolin
- , Maria Elena Martinez
- , Laura Matricardi
- , Lesley McGuffog
- , Catriona McLean
- , Noura Mebirouk
- , Alfons Meindl
- , Usha Menon
- , Austin Miller
- , Elvira Mingazheva
- , Marco Montagna
- , Anna Marie Mulligan
- , Claire Mulot
- , Taru A. Muranen
- , Katherine L. Nathanson
- , Susan L. Neuhausen
- , Heli Nevanlinna
- , Patrick Neven
- , William G. Newman
- , Finn C. Nielsen
- , Liene Nikitina-Zake
- , Jesse Nodora
- , Kenneth Offit
- , Edith Olah
- , Olufunmilayo I. Olopade
- , Håkan Olsson
- , Nick Orr
- , Laura Papi
- , Janos Papp
- , Tjoung-Won Park-Simon
- , Michael T. Parsons
- , Bernard Peissel
- , Ana Peixoto
- , Beth Peshkin
- , Paolo Peterlongo
- , Julian Peto
- , Kelly-Anne Phillips
- , Marion Piedmonte
- , Dijana Plaseska-Karanfilska
- , Karolina Prajzendanc
- , Ross Prentice
- , Darya Prokofyeva
- , Brigitte Rack
- , Paolo Radice
- , Susan J. Ramus
- , Johanna Rantala
- , Muhammad U. Rashid
- , Gad Rennert
- , Hedy S. Rennert
- , Harvey A. Risch
- , Atocha Romero
- , Matti A. Rookus
- , Matthias Rübner
- , Thomas Rüdiger
- , Emmanouil Saloustros
- , Sarah Sampson
- , Dale P. Sandler
- , Elinor J. Sawyer
- , Maren T. Scheuner
- , Rita K. Schmutzler
- , Andreas Schneeweiss
- , Minouk J. Schoemaker
- , Ben Schöttker
- , Peter Schürmann
- , Leigha Senter
- , Priyanka Sharma
- , Mark E. Sherman
- , Xiao-Ou Shu
- , Christian F. Singer
- , Snezhana Smichkoska
- , Penny Soucy
- , Melissa C. Southey
- , John J. Spinelli
- , Jennifer Stone
- , Dominique Stoppa-Lyonnet
- , Anthony J. Swerdlow
- , Csilla I. Szabo
- , Rulla M. Tamimi
- , William J. Tapper
- , Jack A. Taylor
- , Manuel R. Teixeira
- , MaryBeth Terry
- , Mads Thomassen
- , Darcy L. Thull
- , Marc Tischkowitz
- , Amanda E. Toland
- , Rob A. E. M. Tollenaar
- , Ian Tomlinson
- , Diana Torres
- , Melissa A. Troester
- , Thérèse Truong
- , Nadine Tung
- , Michael Untch
- , Celine M. Vachon
- , Ans M. W. van den Ouweland
- , Lizet E. van der Kolk
- , Elke M. van Veen
- , Elizabeth J. vanRensburg
- , Ana Vega
- , Barbara Wappenschmidt
- , Clarice R. Weinberg
- , Jeffrey N. Weitzel
- , Hans Wildiers
- , Robert Winqvist
- , Alicja Wolk
- , Xiaohong R. Yang
- , Drakoulis Yannoukakos
- , Wei Zheng
- , Kristin K. Zorn
- , Roger L. Milne
- , Peter Kraft
- , Jacques Simard
- , Paul D. P. Pharoah
- , Kyriaki Michailidou
- , Antonis C. Antoniou
- , Marjanka K. Schmidt
- , Georgia Chenevix-Trench
- , Douglas F. Easton
- , Nilanjan Chatterjee
- & Montserrat García-Closas
-
Research | | Open
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology
- Jonathan D. Mosley
- , Rebecca T. Levinson
- , Eric Farber-Eger
- , Todd L. Edwards
- , Jacklyn N. Hellwege
- , Adriana M. Hung
- , Ayush Giri
- , Megan M. Shuey
- , Christian M. Shaffer
- , Mingjian Shi
- , Evan L. Brittain
- , Wendy K. Chung
- , Iftikhar J. Kullo
- , Adelaide M. Arruda-Olson
- , Gail P. Jarvik
- , Eric B. Larson
- , David R. Crosslin
- , Marc S. Williams
- , Ken M. Borthwick
- , Hakon Hakonarson
- , Joshua C. Denny
- , Thomas J. Wang
- , Charles M. Stein
- , Dan M. Roden
- & Quinn S. Wells
-
Research |
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
- Laura Castilla-Vallmanya
- , Kaja K. Selmer
- , Clémantine Dimartino
- , Raquel Rabionet
- , Bernardo Blanco-Sánchez
- , Sandra Yang
- , Margot R. F. Reijnders
- , Antonie J. van Essen
- , Myriam Oufadem
- , Magnus D. Vigeland
- , Barbro Stadheim
- , Gunnar Houge
- , Helen Cox
- , Helen Kingston
- , Jill Clayton-Smith
- , Jeffrey W. Innis
- , Maria Iascone
- , Anna Cereda
- , Sara Gabbiadini
- , Wendy K. Chung
- , Victoria Sanders
- , Joel Charrow
- , Emily Bryant
- , John Millichap
- , Antonio Vitobello
- , Christel Thauvin
- , Frederic Tran Mau-Them
- , Laurence Faivre
- , Gaetan Lesca
- , Audrey Labalme
- , Christelle Rougeot
- , Nicolas Chatron
- , Damien Sanlaville
- , Katherine M. Christensen
- , Amelia Kirby
- , Raymond Lewandowski
- , Rachel Gannaway
- , Maha Aly
- , Anna Lehman
- , Lorne Clarke
- , Luitgard Graul-Neumann
- , Christiane Zweier
- , Davor Lessel
- , Bernarda Lozic
- , Ingvild Aukrust
- , Ryan Peretz
- , Robert Stratton
- , Thomas Smol
- , Anne Dieux-Coëslier
- , Joanna Meira
- , Elizabeth Wohler
- , Nara Sobreira
- , Erin M. Beaver
- , Jennifer Heeley
- , Lauren C. Briere
- , Frances A. High
- , David A. Sweetser
- , Melissa A. Walker
- , Catherine E. Keegan
- , Parul Jayakar
- , Marwan Shinawi
- , Wilhelmina S. Kerstjens-Frederikse
- , Dawn L. Earl
- , Victoria M. Siu
- , Emma Reesor
- , Tony Yao
- , Robert A. Hegele
- , Olena M. Vaske
- , Shannon Rego
- , Kevin A. Shapiro
- , Brian Wong
- , Michael J. Gambello
- , Marie McDonald
- , Danielle Karlowicz
- , Roberto Colombo
- , Alessandro Serretti
- , Lynn Pais
- , Anne O’Donnell-Luria
- , Alison Wray
- , Simon Sadedin
- , Belinda Chong
- , Tiong Y. Tan
- , John Christodoulou
- , Susan M. White
- , Anne Slavotinek
- , Deborah Barbouth
- , Dayna Morel Swols
- , Mélanie Parisot
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Véronique Pingault
- , Arnold Munnich
- , Megan T. Cho
- , Valérie Cormier-Daire
- , Susanna Balcells
- , Stanislas Lyonnet
- , Daniel Grinberg
- , Jeanne Amiel
- , Roser Urreizti
- & Christopher T. Gordon
-
Research |
-
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
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| Open
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Research | | Open
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| Open
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
- Lisa R. Susswein
- , Megan L. Marshall
- , Rachel Nusbaum
- , Kristen J. Vogel Postula
- , Scott M. Weissman
- , Lauren Yackowski
- , Erica M. Vaccari
- , Jeffrey Bissonnette
- , Jessica K. Booker
- , M. Laura Cremona
- , Federica Gibellini
- , Patricia D. Murphy
- , Daniel E. Pineda-Alvarez
- , Guido D. Pollevick
- , Zhixiong Xu
- , Gabi Richard
- , Sherri Bale
- , Rachel T. Klein
- , Kathleen S. Hruska
- & Wendy K. Chung
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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
- Julianne M. O’Daniel
- , Heather M. McLaughlin
- , Laura M. Amendola
- , Sherri J. Bale
- , Jonathan S. Berg
- , David Bick
- , Kevin M. Bowling
- , Elizabeth C. Chao
- , Wendy K. Chung
- , Laura K. Conlin
- , Gregory M. Cooper
- , Soma Das
- , Joshua L. Deignan
- , Michael O. Dorschner
- , James P. Evans
- , Arezou A. Ghazani
- , Katrina A. Goddard
- , Michele Gornick
- , Kelly D. Farwell Hagman
- , Tina Hambuch
- , Madhuri Hegde
- , Lucia A. Hindorff
- , Ingrid A. Holm
- , Gail P. Jarvik
- , Amy Knight Johnson
- , Lindsey Mighion
- , Massimo Morra
- , Sharon E. Plon
- , Sumit Punj
- , C. Sue Richards
- , Avni Santani
- , Brian H. Shirts
- , Nancy B. Spinner
- , Sha Tang
- , Karen E. Weck
- , Susan M. Wolf
- , Yaping Yang
- & Heidi L. Rehm
-
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G. M. Bosch
- , Megan T. Cho
- , Jill A. Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G. Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F. Nienke Boonstra
- , Francisca Millan
- , Frans P. M. Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K. Chung
- , Dmitriy Niyazov
- , Juan M. Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M. Hisama
- , Bert B. A. de Vries
- & Christian Schaaf
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Research | | Open
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Reviews |
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Clinical application of whole-exome sequencing across clinical indications
- Kyle Retterer
- , Jane Juusola
- , Megan T. Cho
- , Patrik Vitazka
- , Francisca Millan
- , Federica Gibellini
- , Annette Vertino-Bell
- , Nizar Smaoui
- , Julie Neidich
- , Kristin G. Monaghan
- , Dianalee McKnight
- , Renkui Bai
- , Sharon Suchy
- , Bethany Friedman
- , Jackie Tahiliani
- , Daniel Pineda-Alvarez
- , Gabriele Richard
- , Tracy Brandt
- , Eden Haverfield
- , Wendy K. Chung
- & Sherri Bale
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Clinical phenotype of the recurrent 1q21.1 copy-number variant
- Raphael Bernier
- , Kyle J. Steinman
- , Beau Reilly
- , Arianne Stevens Wallace
- , Elliott H. Sherr
- , Nicholas Pojman
- , Heather C. Mefford
- , Jennifer Gerdts
- , Rachel Earl
- , Ellen Hanson
- , Robin P. Goin-Kochel
- , Leandra Berry
- , Stephen Kanne
- , LeeAnne Green Snyder
- , Sarah Spence
- , Melissa B. Ramocki
- , David W. Evans
- , John E. Spiro
- , Christa L. Martin
- , David H. Ledbetter
- & Wendy K. Chung
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