Marina T DiStefano

Affiliations

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
The Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Publications (5)

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marina T DiStefano , Sarah E Hemphill , Andrea M Oza , Rebecca K Siegert , Andrew R Grant , Madeline Y Hughes , Brandon J Cushman , Hela Azaiez , Kevin T Booth , Alex Chapin , Hatice Duzkale , Tatsuo Matsunaga , Jun Shen , Wenying Zhang , Margaret Kenna , Lisa A Schimmenti , Mustafa Tekin , Heidi L Rehm , Ahmad N Abou Tayoun , Sami S Amr , Auteur inconnu

Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.

Human mutation

Avec: Courtney Thaxton , Molly E Good , Marina T DiStefano , Xi Luo , Erica F Andersen , Erik Thorland , Jonathan Berg , Christa Lese Martin , Heidi L Rehm , Erin R Riggs , Auteur inconnu , Auteur inconnu

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.

medRxiv : the preprint server for health sciences

Avec: Angharad M Roberts , Marina T DiStefano , Erin Rooney Riggs , Katherine S Josephs , Fowzan S Alkuraya , Joanna Amberger , Mutaz Amin , Jonathan S Berg , Fiona Cunningham , Karen Eilbeck , Helen V Firth , Julia Foreman , Ada Hamosh , Eleanor Hay , Sarah Leigh , Christa L Martin , Ellen M McDonagh , Daniel Perrett , Erin M Ramos , Peter N Robinson , Ana Rath , David van Sant , Zornitza Stark , Nicola Whiffin , Heidi L Rehm , James S Ware

Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.

Annual review of biomedical data science

Avec: Matt W Wright , Courtney L Thaxton , Tristan Nelson , Marina T DiStefano , Juliann M Savatt , Matthew H Brush , Gloria Cheung , Mark E Mandell , Bryan Wulf , T J Ward , Scott Goehringer , Terry O'Neill , Phil Weller , Christine G Preston , Ingrid M Keseler , Jennifer L Goldstein , Natasha T Strande , Jennifer McGlaughon , Danielle R Azzariti , Ineke Cordova , Hannah Dziadzio , Lawrence Babb , Kevin Riehle , Aleksandar Milosavljevic , Christa Lese Martin , Heidi L Rehm , Sharon E Plon , Jonathan S Berg , Erin R Riggs , Teri E Klein

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marina T DiStefano , Scott Goehringer , Lawrence Babb , Fowzan S Alkuraya , Joanna Amberger , Mutaz Amin , Christina Austin-Tse , Marie Balzotti , Jonathan S Berg , Ewan Birney , Carol Bocchini , Elspeth A Bruford , Alison J Coffey , Heather Collins , Fiona Cunningham , Louise C Daugherty , Yaron Einhorn , Helen V Firth , David R Fitzpatrick , Rebecca E Foulger , Jennifer Goldstein , Ada Hamosh , Matthew R Hurles , Sarah E Leigh , Ivone U S Leong , Sateesh Maddirevula , Christa L Martin , Ellen M McDonagh , Annie Olry , Arina Puzriakova , Kelly Radtke , Erin M Ramos , Ana Rath , Erin Rooney Riggs , Angharad M Roberts , Charlotte Rodwell , Catherine Snow , Zornitza Stark , Jackie Tahiliani , Susan Tweedie , James S Ware , Phillip Weller , Eleanor Williams , Caroline F Wright , Thabo Michael Yates , Heidi L Rehm

Réseau de co-auteurs

Heidi L Rehm 5 collaborations

None None 3 collaborations

Jonathan S Berg 3 collaborations

Christa Lese Martin 2 collaborations

Erin R Riggs 2 collaborations

Angharad M Roberts 2 collaborations

Erin Rooney Riggs 2 collaborations

Fowzan S Alkuraya 2 collaborations

Joanna Amberger 2 collaborations

Mutaz Amin 2 collaborations

Fiona Cunningham 2 collaborations

Helen V Firth 2 collaborations

Ada Hamosh 2 collaborations

Christa L Martin 2 collaborations

Ellen M McDonagh 2 collaborations

Erin M Ramos 2 collaborations

Ana Rath 2 collaborations

Zornitza Stark 2 collaborations

James S Ware 2 collaborations

Scott Goehringer 2 collaborations

Lawrence Babb 2 collaborations

Sarah E Hemphill 1 collaboration

Andrea M Oza 1 collaboration

Rebecca K Siegert 1 collaboration

Andrew R Grant 1 collaboration

Madeline Y Hughes 1 collaboration

Brandon J Cushman 1 collaboration

Hela Azaiez 1 collaboration

Kevin T Booth 1 collaboration

Alex Chapin 1 collaboration

Hatice Duzkale 1 collaboration

Tatsuo Matsunaga 1 collaboration

Jun Shen 1 collaboration

Wenying Zhang 1 collaboration

Margaret Kenna 1 collaboration

Lisa A Schimmenti 1 collaboration

Mustafa Tekin 1 collaboration

Ahmad N Abou Tayoun 1 collaboration

Sami S Amr 1 collaboration

Courtney Thaxton 1 collaboration

Molly E Good 1 collaboration

Xi Luo 1 collaboration

Erica F Andersen 1 collaboration

Erik Thorland 1 collaboration

Jonathan Berg 1 collaboration

Katherine S Josephs 1 collaboration

Karen Eilbeck 1 collaboration

Julia Foreman 1 collaboration

Eleanor Hay 1 collaboration

Sarah Leigh 1 collaboration

Daniel Perrett 1 collaboration

Peter N Robinson 1 collaboration

David van Sant 1 collaboration

Nicola Whiffin 1 collaboration

Matt W Wright 1 collaboration

Courtney L Thaxton 1 collaboration

Tristan Nelson 1 collaboration

Juliann M Savatt 1 collaboration

Matthew H Brush 1 collaboration

Gloria Cheung 1 collaboration

Mark E Mandell 1 collaboration

Bryan Wulf 1 collaboration

T J Ward 1 collaboration

Terry O'Neill 1 collaboration

Phil Weller 1 collaboration

Christine G Preston 1 collaboration

Ingrid M Keseler 1 collaboration

Jennifer L Goldstein 1 collaboration

Natasha T Strande 1 collaboration

Jennifer McGlaughon 1 collaboration

Danielle R Azzariti 1 collaboration

Ineke Cordova 1 collaboration

Hannah Dziadzio 1 collaboration

Kevin Riehle 1 collaboration

Aleksandar Milosavljevic 1 collaboration

Sharon E Plon 1 collaboration

Teri E Klein 1 collaboration

Christina Austin-Tse 1 collaboration

Marie Balzotti 1 collaboration

Ewan Birney 1 collaboration

Carol Bocchini 1 collaboration

Elspeth A Bruford 1 collaboration

Alison J Coffey 1 collaboration

Heather Collins 1 collaboration

Louise C Daugherty 1 collaboration

Yaron Einhorn 1 collaboration

David R Fitzpatrick 1 collaboration

Rebecca E Foulger 1 collaboration

Jennifer Goldstein 1 collaboration

Matthew R Hurles 1 collaboration

Sarah E Leigh 1 collaboration

Ivone U S Leong 1 collaboration

Sateesh Maddirevula 1 collaboration

Annie Olry 1 collaboration

Arina Puzriakova 1 collaboration

Kelly Radtke 1 collaboration

Charlotte Rodwell 1 collaboration

Catherine Snow 1 collaboration

Jackie Tahiliani 1 collaboration

Susan Tweedie 1 collaboration

Phillip Weller 1 collaboration

Eleanor Williams 1 collaboration

Caroline F Wright 1 collaboration

Thabo Michael Yates 1 collaboration