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W. Andrew Faucett
Researcher at Geisinger Health System
Publications - 31
Citations - 4524
W. Andrew Faucett is an academic researcher from Geisinger Health System. The author has contributed to research in topics: Genetic testing & Health care. The author has an hindex of 18, co-authored 31 publications receiving 3846 citations. Previous affiliations of W. Andrew Faucett include Emory University & Geisinger Medical Center.
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Journal ArticleDOI
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller,Margaret P Adam,Margaret P Adam,Swaroop Aradhya,Leslie G. Biesecker,Arthur R. Brothman,Nigel P. Carter,Deanna M. Church,John A. Crolla,Evan E. Eichler,Charles J. Epstein,W. Andrew Faucett,Lars Feuk,Jan M. Friedman,Ada Hamosh,Laird G. Jackson,Erin B. Kaminsky,Klaas Kok,Ian D. Krantz,Robert M. Kuhn,Charles Lee,James Ostell,Carla Rosenberg,Stephen W. Scherer,Nancy B. Spinner,Dimitri J. Stavropoulos,James Tepperberg,Erik C. Thorland,Joris Vermeesch,Darrel Waggoner,Michael S. Watson,Christa Lese Martin,David H. Ledbetter +32 more
TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).
Journal ArticleDOI
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
Omri Gottesman,Helena Kuivaniemi,Gerard Tromp,W. Andrew Faucett,Rongling Li,Teri A. Manolio,Saskia C. Sanderson,Joseph L. Kannry,Randi E. Zinberg,Melissa A. Basford,Murray H. Brilliant,David J. Carey,Rex L. Chisholm,Christopher G. Chute,John Connolly,David R. Crosslin,Joshua C. Denny,Carlos J. Gallego,Jonathan L. Haines,Hakon Hakonarson,John B. Harley,Gail P. Jarvik,Isaac S. Kohane,Iftikhar J. Kullo,Eric B. Larson,Catherine A. McCarty,Marylyn D. Ritchie,Dan M. Roden,Maureen E. Smith,Erwin P. Bottinger,Marc S. Williams +30 more
TL;DR: The evolution, accomplishments, opportunities, and challenges of the network are described, from its inception as a five- group consortium focused on genotype–phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine.
Journal ArticleDOI
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Flore Zufferey,Elliott H. Sherr,Noam D. Beckmann,Ellen Hanson,Anne M. Maillard,Loyse Hippolyte,Aurélien Macé,Carina Ferrari,Zoltán Kutalik,Joris Andrieux,Elizabeth Aylward,Mandy Barker,Raphael Bernier,Sonia Bouquillon,Philippe Conus,Bruno Delobel,W. Andrew Faucett,Robin P. Goin-Kochel,Ellen Grant,Louise Harewood,Jill V. Hunter,Sébastien Lebon,David H. Ledbetter,Christa Lese Martin,Katrin Männik,Danielle Martinet,Pratik Mukherjee,Melissa B. Ramocki,Sarah J. Spence,Kyle J. Steinman,Jennifer Tjernage,John E. Spiro,Alexandre Reymond,Jacques S. Beckmann,Wendy K. Chung,Sébastien Jacquemont,Marie-Claude Addor,Benoit Arveiler,Marco Belfiore,Frédérique Béna,Laura Bernardini,Patricia Blanchet,Dominique Bonneau,Odile Boute,Patrick Callier,Dominique Campion,Jean Chiesa,Marie Pierre Cordier,Jean Marie Cuisset,Albert David,Nicole de Leeuw,Bert B.A. de Vries,Gérard Didelot,Martine Doco-Fenzy,Bénédicte Duban Bedu,Christèle Dubourg,Sophie Dupuis-Girod,Christina Fagerberg,Laurence Faivre,Florence Fellmann,Bridget A. Fernandez,Richard I. Fisher,Elisabeth Flori,Alice Goldenberg,Delphine Héron,Muriel Holder,Juliane Hoyer,Bertrand Isidor,Sylvie Jaillard,Philippe Jonveaux,Sylvie Joriot,Hubert Journel,R. Frank Kooy,Cédric Le Caignec,Bruno Leheup,Marie Pierre Lemaitre,Suzanne M E Lewis,Valérie Malan,Michèle Mathieu-Dramard,Andres Metspalu,Fanny Morice-Picard,Mafalda Mucciolo,Eve Õiglane-Shlik,Katrin Õunap,Laurent Pasquier,Florence Petit,Anne Philippe,Ghislaine Plessis,Fabienne Prieur,Jacques Puechberty,Evica Rajcan-Separovic,Anita Rauch,Alessandra Renieri,Claudine Rieubland,Caroline Rooryck,Katharina Magdalena Rötzer,Mariken Ruiter,Damien Sanlaville,Stéphanie Selmoni,Yiping Shen,Vanessa Siffredi,Jacques Thonney,Louis Vallée,Ellen van Binsbergen,Nathalie Van der Aa,Mieke M. van Haelst,Jacqueline Vigneron,Catherine Vincent-Delorme,Disciglio Vittoria,Anneke T. Vulto-van Silfhout,Robert M. Witwicki,Simon A. Zwolinski,Alexandra Bowe,Arthur L. Beaudet,Christie M. Brewton,Zili Chu,Allison G. Dempsey,Yolanda L. Evans,Silvia Garza,Stephen M. Kanne,Anna L. Laakman,Morgan W. Lasala,Ashlie Llorens,Gabriela Marzano,Timothy J. Moss,Kerri P. Nowell,Monica Proud,Qixuan Chen,Roger Vaughan,Jeffrey I. Berman,Lisa Blaskey,Katherine Hines,Sudha Kilaru Kessler,Sarah Y. Khan,Saba Qasmieh,Audrey Lynn Bibb,Andrea M. Paal,Patricia Z. Page,Bethanny Smith-Packard,Randy L. Buckner,Jordan Burko,Alyss Lian Cavanagh,Bettina Cerban,Anne V. Snow,Lee Anne Green Snyder,Rebecca Mc Nally Keehn,David T. Miller,Fiona Miller,Jennifer Olson,Christina Triantafallou,Nicole Visyak,Constance Atwell,Marta Benedetti,Gerald D. Fischbach,Marion Greenup,Alan Packer,Polina Bukshpun,Maxwell Cheong,Corby L. Dale,Sarah E. Gobuty,Leighton B. Hinkley,Rita J. Jeremy,Hana Lee,Tracy Luks,Elysa J. Marco,Alastair J. Martin,Kathleen E. McGovern,Srikantan S. Nagarajan,Julia P. Owen,Brianna M. Paul,Nicholas J. Pojman,Tuhin K. Sinha,Vivek Swarnakar,Mari Wakahiro,Hanalore Alupay,Benjamin Aaronson,Sean Ackerman,Katy Ankenman,Jenna Elgin,Jennifer Gerdts,Kelly Johnson,Beau Reilly,Dennis Shaw,Arianne Stevens,Tracey Ward,Julia Wenegrat,Timothy P.L. Roberts +186 more
TL;DR: The 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry, and these features are clinically significant and reproducible.
Journal ArticleDOI
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Debra D'Angelo,Sébastien Lebon,Qixuan Chen,Sandra Martin-Brevet,LeeAnne Green Snyder,Loyse Hippolyte,Ellen Hanson,Anne M. Maillard,W. Andrew Faucett,Aurélien Macé,Aurélien Macé,Aurélie Pain,Raphael Bernier,Samuel J.R.A. Chawner,Albert David,Joris Andrieux,Elizabeth Aylward,Geneviève Baujat,Geneviève Baujat,Ines Caldeira,Philippe Conus,Carrina Ferrari,Francesca Forzano,Marion Gérard,Robin P. Goin-Kochel,Ellen Grant,Jill V. Hunter,Bertrand Isidor,Aurélia Jacquette,Aia Elise Jønch,Boris Keren,Didier Lacombe,Cédric Le Caignec,Christa Lese Martin,Katrin Männik,Katrin Männik,Andres Metspalu,Cyril Mignot,Pratik Mukherjee,Michael John Owen,Marzia Passeggeri,Caroline Rooryck-Thambo,Jill A. Rosenfeld,Sarah J. Spence,Kyle J. Steinman,Jennifer Tjernagel,Mieke M. van Haelst,Yiping Shen,Bogdan Draganski,Elliott H. Sherr,David H. Ledbetter,Marianne Bernadette van den Bree,Jacques S. Beckmann,Jacques S. Beckmann,John E. Spiro,Alexandre Reymond,Sébastien Jacquemont,Sébastien Jacquemont,Wendy K. Chung +58 more
TL;DR: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion.
Journal ArticleDOI
Human Germline Genome Editing
Kelly E. Ormond,Douglas P. Mortlock,Derek T. Scholes,Yvonne Bombard,Lawrence C. Brody,W. Andrew Faucett,W. Andrew Faucett,Nanibaa’ A. Garrison,Nanibaa’ A. Garrison,Laura Hercher,Laura Hercher,Rosario Isasi,Anna Middleton,Kiran Musunuru,Daniel Shriner,Alice Virani,Caroline E. Young +16 more
TL;DR: It is inappropriate to perform germline gene editing that culminates in human pregnancy and future clinical application of human germline genome editing should not proceed unless there is a compelling medical rationale, an evidence base that supports its clinical use, and an ethical justification.