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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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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
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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
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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 |
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Research |
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Research |
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Research |
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
- Rosalind Verheije
- , Gabriel S. Kupchik
- , Bertrand Isidor
- , Hester Y. Kroes
- , Sally Ann Lynch
- , Lara Hawkes
- , Maja Hempel
- , Bruce D. Gelb
- , Jamal Ghoumid
- , Guylaine D’Amours
- , Kate Chandler
- , Christèle Dubourg
- , Sara Loddo
- , Zeynep Tümer
- , Charles Shaw-Smith
- , Mathilde Nizon
- , Michael Shevell
- , Evelien Van Hoof
- , Kwame Anyane-Yeboa
- , Gaetana Cerbone
- , Jill Clayton-Smith
- , Benjamin Cogné
- , Pierre Corre
- , Anniek Corveleyn
- , Marie De Borre
- , Tina Duelund Hjortshøj
- , Mélanie Fradin
- , Marc Gewillig
- , Elizabeth Goldmuntz
- , Greet Hens
- , Emmanuelle Lemyre
- , Hubert Journel
- , Usha Kini
- , Fanny Kortüm
- , Cedric Le Caignec
- , Antonio Novelli
- , Sylvie Odent
- , Florence Petit
- , Anya Revah-Politi
- , Nicholas Stong
- , Tim M. Strom
- , Ellen van Binsbergen
- , Koenraad Devriendt
- & Jeroen Breckpot
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Research |
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
- Hsiang-Chih Lu
- , Qiumin Tan
- , Maxime W C Rousseaux
- , Wei Wang
- , Ji-Yoen Kim
- , Ronald Richman
- , Ying-Wooi Wan
- , Szu-Ying Yeh
- , Jay M Patel
- , Xiuyun Liu
- , Tao Lin
- , Yoontae Lee
- , John D Fryer
- , Jing Han
- , Maria Chahrour
- , Richard H Finnell
- , Yunping Lei
- , Maria E Zurita-Jimenez
- , Priyanka Ahimaz
- , Kwame Anyane-Yeboa
- , Lionel Van Maldergem
- , Daphne Lehalle
- , Nolwenn Jean-Marcais
- , Anne-Laure Mosca-Boidron
- , Julien Thevenon
- , Margot A Cousin
- , Della E Bro
- , Brendan C Lanpher
- , Eric W Klee
- , Nora Alexander
- , Matthew N Bainbridge
- , Harry T Orr
- , Roy V Sillitoe
- , M Cecilia Ljungberg
- , Zhandong Liu
- , Christian P Schaaf
- & Huda Y Zoghbi
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Research |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Claire Redin
- , Harrison Brand
- , Ryan L Collins
- , Tammy Kammin
- , Elyse Mitchell
- , Jennelle C Hodge
- , Carrie Hanscom
- , Vamsee Pillalamarri
- , Catarina M Seabra
- , Mary-Alice Abbott
- , Omar A Abdul-Rahman
- , Erika Aberg
- , Rhett Adley
- , Sofia L Alcaraz-Estrada
- , Fowzan S Alkuraya
- , Yu An
- , Mary-Anne Anderson
- , Caroline Antolik
- , Kwame Anyane-Yeboa
- , Joan F Atkin
- , Tina Bartell
- , Jonathan A Bernstein
- , Elizabeth Beyer
- , Ian Blumenthal
- , Ernie M H F Bongers
- , Eva H Brilstra
- , Chester W Brown
- , Hennie T Brüggenwirth
- , Bert Callewaert
- , Colby Chiang
- , Ken Corning
- , Helen Cox
- , Edwin Cuppen
- , Benjamin B Currall
- , Tom Cushing
- , Dezso David
- , Matthew A Deardorff
- , Annelies Dheedene
- , Marc D'Hooghe
- , Bert B A de Vries
- , Dawn L Earl
- , Heather L Ferguson
- , Heather Fisher
- , David R FitzPatrick
- , Pamela Gerrol
- , Daniela Giachino
- , Joseph T Glessner
- , Troy Gliem
- , Margo Grady
- , Brett H Graham
- , Cristin Griffis
- , Karen W Gripp
- , Andrea L Gropman
- , Andrea Hanson-Kahn
- , David J Harris
- , Mark A Hayden
- , Rosamund Hill
- , Ron Hochstenbach
- , Jodi D Hoffman
- , Robert J Hopkin
- , Monika W Hubshman
- , A Micheil Innes
- , Mira Irons
- , Melita Irving
- , Jessie C Jacobsen
- , Sandra Janssens
- , Tamison Jewett
- , John P Johnson
- , Marjolijn C Jongmans
- , Stephen G Kahler
- , David A Koolen
- , Jerome Korzelius
- , Peter M Kroisel
- , Yves Lacassie
- , William Lawless
- , Emmanuelle Lemyre
- , Kathleen Leppig
- , Alex V Levin
- , Haibo Li
- , Hong Li
- , Eric C Liao
- , Cynthia Lim
- , Edward J Lose
- , Diane Lucente
- , Michael J Macera
- , Poornima Manavalan
- , Giorgia Mandrile
- , Carlo L Marcelis
- , Lauren Margolin
- , Tamara Mason
- , Diane Masser-Frye
- , Michael W McClellan
- , Cinthya J Zepeda Mendoza
- , Björn Menten
- , Sjors Middelkamp
- , Liya R Mikami
- , Emily Moe
- , Shehla Mohammed
- , Tarja Mononen
- , Megan E Mortenson
- , Graciela Moya
- , Aggie W Nieuwint
- , Zehra Ordulu
- , Sandhya Parkash
- , Susan P Pauker
- , Shahrin Pereira
- , Danielle Perrin
- , Katy Phelan
- , Raul E Piña Aguilar
- , Pino J Poddighe
- , Giulia Pregno
- , Salmo Raskin
- , Linda Reis
- , William Rhead
- , Debra Rita
- , Ivo Renkens
- , Filip Roelens
- , Jayla Ruliera
- , Patrick Rump
- , Samantha L P Schilit
- , Ranad Shaheen
- , Rebecca Sparkes
- , Erica Spiegel
- , Blair Stevens
- , Matthew R Stone
- , Julia Tagoe
- , Joseph V Thakuria
- , Bregje W van Bon
- , Jiddeke van de Kamp
- , Ineke van Der Burgt
- , Ton van Essen
- , Conny M van Ravenswaaij-Arts
- , Markus J van Roosmalen
- , Sarah Vergult
- , Catharina M L Volker-Touw
- , Dorothy P Warburton
- , Matthew J Waterman
- , Susan Wiley
- , Anna Wilson
- , Maria de la Concepcion A Yerena-de Vega
- , Roberto T Zori
- , Brynn Levy
- , Han G Brunner
- , Nicole de Leeuw
- , Wigard P Kloosterman
- , Erik C Thorland
- , Cynthia C Morton
- , James F Gusella
- & Michael E Talkowski
