Thomas Defay

Affiliations

Alexion Pharmaceuticals Inc., New Haven, CT 06510, USA.

Publications (8)

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Science translational medicine

Avec: Michelle M Clark , Amber Hildreth , Sergey Batalov , Yan Ding , Shimul Chowdhury , Kelly Watkins , Katarzyna Ellsworth , Brandon Camp , Cyrielle I Kint , Calum Yacoubian , Lauge Farnaes , Matthew N Bainbridge , Curtis Beebe , Joshua J A Braun , Margaret Bray , Jeanne Carroll , Julie A Cakici , Sara A Caylor , Christina Clarke , Mitchell P Creed , Jennifer Friedman , Alison Frith , Richard Gain , Mary Gaughran , Shauna George , Sheldon Gilmer , Joseph Gleeson , Jeremy Gore , Haiying Grunenwald , Raymond L Hovey , Marie L Janes , Kejia Lin , Paul D McDonagh , Kyle McBride , Patrick Mulrooney , Shareef Nahas , Daeheon Oh , Albert Oriol , Laura Puckett , Zia Rady , Martin G Reese , Julie Ryu , Lisa Salz , Erica Sanford , Lawrence Stewart , Nathaly Sweeney , Mari Tokita , Luca Van Der Kraan , Sarah White , Kristen Wigby , Brett Williams , Terence Wong , Meredith S Wright , Catherine Yamada , Peter Schols , John Reynders , Kevin Hall , David Dimmock , Narayanan Veeraraghavan , Thomas Defay , Stephen F Kingsmore

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature communications

Avec: Mallory J Owen , Sebastien Lefebvre , Christian Hansen , Chris M Kunard , David P Dimmock , Laurie D Smith , Gunter Scharer , Rebecca Mardach , Mary J Willis , Annette Feigenbaum , Anna-Kaisa Niemi , Yan Ding , Luca Van Der Kraan , Katarzyna Ellsworth , Lucia Guidugli , Bryan R Lajoie , Timothy K McPhail , Shyamal S Mehtalia , Kevin K Chau , Yong H Kwon , Zhanyang Zhu , Sergey Batalov , Shimul Chowdhury , Seema Rego , James Perry , Mark Speziale , Mark Nespeca , Meredith S Wright , Martin G Reese , Francisco M De La Vega , Joe Azure , Erwin Frise , Charlene Son Rigby , Sandy White , Charlotte A Hobbs , Sheldon Gilmer , Gail Knight , Albert Oriol , Jerica Lenberg , Shareef A Nahas , Kate Perofsky , Kyu Kim , Jeanne Carroll , Nicole G Coufal , Erica Sanford , Kristen Wigby , Jacqueline Weir , Vicki S Thomson , Louise Fraser , Seka S Lazare , Yoon H Shin , Haiying Grunenwald , Richard Lee , David Jones , Duke Tran , Andrew Gross , Patrick Daigle , Anne Case , Marisa Lue , James A Richardson , John Reynders , Thomas Defay , Kevin P Hall , Narayanan Veeraraghavan , Stephen F Kingsmore

First Radiolabeling of a Ganglioside with a Positron Emitting Radionuclide:

ACS chemical neuroscience

Avec: Evgeny Revunov , Peter Johnström , Ryosuke Arakawa , Jonas Malmquist , Aurelija Jucaite , Tom Defay , Akihiro Takano , Magnus Schou

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

HGG advances

Avec: Jignesh R Parikh , Casie A Genetti , Asli Aykanat , Catherine A Brownstein , Klaus Schmitz-Abe , Morgan Danowski , Andrew Quitadomo , Jill A Madden , Calum Yacoubian , Richard Gain , Tessa Williams , Mary Meskell , Andrew Brown , Alison Frith , Shira Rockowitz , Piotr Sliz , Pankaj B Agrawal , Thomas Defay , Paul McDonagh , John Reynders , Sebastien Lefebvre , Alan H Beggs

Whole-genome sequencing holds the key to the success of gene-targeted therapies.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Jerry Vockley , Annemieke Aartsma-Rus , Jennifer L Cohen , Lex M Cowsert , R Rodney Howell , Timothy W Yu , Melissa P Wasserstein , Thomas Defay

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American journal of human genetics

Avec: Stephen F Kingsmore , Laurie D Smith , Chris M Kunard , Matthew Bainbridge , Sergey Batalov , Wendy Benson , Eric Blincow , Sara Caylor , Christina Chambers , Guillermo Del Angel , David P Dimmock , Yan Ding , Katarzyna Ellsworth , Annette Feigenbaum , Erwin Frise , Robert C Green , Lucia Guidugli , Kevin P Hall , Christian Hansen , Charlotte A Hobbs , Scott D Kahn , Mark Kiel , Lucita Van Der Kraan , Chad Krilow , Yong H Kwon , Lakshminarasimha Madhavrao , Jennie Le , Sebastien Lefebvre , Rebecca Mardach , William R Mowrey , Danny Oh , Mallory J Owen , George Powley , Gunter Scharer , Seth Shelnutt , Mari Tokita , Shyamal S Mehtalia , Albert Oriol , Stavros Papadopoulos , James Perry , Edwin Rosales , Erica Sanford , Steve Schwartz , Duke Tran , Martin G Reese , Meredith Wright , Narayanan Veeraraghavan , Kristen Wigby , Mary J Willis , Aaron R Wolen , Thomas Defay

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Jerry Vockley , Thomas Defay , Aaron J Goldenberg , Amy M Gaviglio

Data sharing to advance gene-targeted therapies in rare diseases.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Julie Lekstrom-Himes , Erika F Augustine , Amy Brower , Thomas Defay , Richard S Finkel , Amy L McGuire , Mark W Skinner , Timothy W Yu

Réseau de co-auteurs

Sergey Batalov 3 collaborations

Yan Ding 3 collaborations

Katarzyna Ellsworth 3 collaborations

Albert Oriol 3 collaborations

Martin G Reese 3 collaborations

Erica Sanford 3 collaborations

Kristen Wigby 3 collaborations

John Reynders 3 collaborations

Narayanan Veeraraghavan 3 collaborations

Stephen F Kingsmore 3 collaborations

Sebastien Lefebvre 3 collaborations

Shimul Chowdhury 2 collaborations

Calum Yacoubian 2 collaborations

Jeanne Carroll 2 collaborations

Alison Frith 2 collaborations

Richard Gain 2 collaborations

Sheldon Gilmer 2 collaborations

Haiying Grunenwald 2 collaborations

Mari Tokita 2 collaborations

Luca Van Der Kraan 2 collaborations

Meredith S Wright 2 collaborations

Mallory J Owen 2 collaborations

Christian Hansen 2 collaborations

Chris M Kunard 2 collaborations

David P Dimmock 2 collaborations

Laurie D Smith 2 collaborations

Gunter Scharer 2 collaborations

Rebecca Mardach 2 collaborations

Mary J Willis 2 collaborations

Annette Feigenbaum 2 collaborations

Lucia Guidugli 2 collaborations

Shyamal S Mehtalia 2 collaborations

Yong H Kwon 2 collaborations

James Perry 2 collaborations

Erwin Frise 2 collaborations

Charlotte A Hobbs 2 collaborations

Duke Tran 2 collaborations

Kevin P Hall 2 collaborations

Jerry Vockley 2 collaborations

Timothy W Yu 2 collaborations

Michelle M Clark 1 collaboration

Amber Hildreth 1 collaboration

Kelly Watkins 1 collaboration

Brandon Camp 1 collaboration

Cyrielle I Kint 1 collaboration

Lauge Farnaes 1 collaboration

Matthew N Bainbridge 1 collaboration

Curtis Beebe 1 collaboration

Joshua J A Braun 1 collaboration

Margaret Bray 1 collaboration

Julie A Cakici 1 collaboration

Sara A Caylor 1 collaboration

Christina Clarke 1 collaboration

Mitchell P Creed 1 collaboration

Jennifer Friedman 1 collaboration

Mary Gaughran 1 collaboration

Shauna George 1 collaboration

Joseph Gleeson 1 collaboration

Jeremy Gore 1 collaboration

Raymond L Hovey 1 collaboration

Marie L Janes 1 collaboration

Kejia Lin 1 collaboration

Paul D McDonagh 1 collaboration

Kyle McBride 1 collaboration

Patrick Mulrooney 1 collaboration

Shareef Nahas 1 collaboration

Daeheon Oh 1 collaboration

Laura Puckett 1 collaboration

Zia Rady 1 collaboration

Julie Ryu 1 collaboration

Lisa Salz 1 collaboration

Lawrence Stewart 1 collaboration

Nathaly Sweeney 1 collaboration

Sarah White 1 collaboration

Brett Williams 1 collaboration

Terence Wong 1 collaboration

Catherine Yamada 1 collaboration

Peter Schols 1 collaboration

Kevin Hall 1 collaboration

David Dimmock 1 collaboration

Anna-Kaisa Niemi 1 collaboration

Bryan R Lajoie 1 collaboration

Timothy K McPhail 1 collaboration

Kevin K Chau 1 collaboration

Zhanyang Zhu 1 collaboration

Seema Rego 1 collaboration

Mark Speziale 1 collaboration

Mark Nespeca 1 collaboration

Francisco M De La Vega 1 collaboration

Joe Azure 1 collaboration

Charlene Son Rigby 1 collaboration

Sandy White 1 collaboration

Gail Knight 1 collaboration

Jerica Lenberg 1 collaboration

Shareef A Nahas 1 collaboration

Kate Perofsky 1 collaboration

Kyu Kim 1 collaboration

Nicole G Coufal 1 collaboration

Jacqueline Weir 1 collaboration

Vicki S Thomson 1 collaboration

Louise Fraser 1 collaboration

Seka S Lazare 1 collaboration

Yoon H Shin 1 collaboration

Richard Lee 1 collaboration

David Jones 1 collaboration

Andrew Gross 1 collaboration

Patrick Daigle 1 collaboration

Anne Case 1 collaboration

Marisa Lue 1 collaboration

James A Richardson 1 collaboration

Evgeny Revunov 1 collaboration

Peter Johnström 1 collaboration

Ryosuke Arakawa 1 collaboration

Jonas Malmquist 1 collaboration

Aurelija Jucaite 1 collaboration

Tom Defay 1 collaboration

Akihiro Takano 1 collaboration

Magnus Schou 1 collaboration

Jignesh R Parikh 1 collaboration

Casie A Genetti 1 collaboration

Asli Aykanat 1 collaboration

Catherine A Brownstein 1 collaboration

Klaus Schmitz-Abe 1 collaboration

Morgan Danowski 1 collaboration

Andrew Quitadomo 1 collaboration

Jill A Madden 1 collaboration

Tessa Williams 1 collaboration

Mary Meskell 1 collaboration

Andrew Brown 1 collaboration

Shira Rockowitz 1 collaboration

Piotr Sliz 1 collaboration

Pankaj B Agrawal 1 collaboration

Paul McDonagh 1 collaboration

Alan H Beggs 1 collaboration

Annemieke Aartsma-Rus 1 collaboration

Jennifer L Cohen 1 collaboration

Lex M Cowsert 1 collaboration

R Rodney Howell 1 collaboration

Melissa P Wasserstein 1 collaboration

Matthew Bainbridge 1 collaboration

Wendy Benson 1 collaboration

Eric Blincow 1 collaboration

Sara Caylor 1 collaboration

Christina Chambers 1 collaboration

Guillermo Del Angel 1 collaboration

Robert C Green 1 collaboration

Scott D Kahn 1 collaboration

Mark Kiel 1 collaboration

Lucita Van Der Kraan 1 collaboration

Chad Krilow 1 collaboration

Lakshminarasimha Madhavrao 1 collaboration

Jennie Le 1 collaboration

William R Mowrey 1 collaboration

Danny Oh 1 collaboration

George Powley 1 collaboration

Seth Shelnutt 1 collaboration

Stavros Papadopoulos 1 collaboration

Edwin Rosales 1 collaboration

Steve Schwartz 1 collaboration

Meredith Wright 1 collaboration

Aaron R Wolen 1 collaboration

Aaron J Goldenberg 1 collaboration

Amy M Gaviglio 1 collaboration

Julie Lekstrom-Himes 1 collaboration

Erika F Augustine 1 collaboration

Amy Brower 1 collaboration

Richard S Finkel 1 collaboration

Amy L McGuire 1 collaboration

Mark W Skinner 1 collaboration