M DiStefano

Affiliations

Geisinger Health System, Autism and Developmental Medicine Institute (ADMI), Lewisburg, PA, United States.
Geisinger Health System, Precision Health Program, Danville, PA, United States.
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, United States.

Publications (6)

Implementation of a dyadic nomenclature for monogenic diseases.

American journal of human genetics

Avec: Courtney Thaxton , Leslie G Biesecker , Marina DiStefano , Melissa Haendel , Ada Hamosh , Emma Owens , Sharon E Plon , Heidi L Rehm , Jonathan S Berg

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.

Genome medicine

Avec: Christine G Preston , Matt W Wright , Rao Madhavrao , Steven M Harrison , Jennifer L Goldstein , Xi Luo , Hannah Wand , Bryan Wulf , Gloria Cheung , Mark E Mandell , Howard Tong , Shaung Cheng , Michael A Iacocca , Arturo Lopez Pineda , Alice B Popejoy , Karen Dalton , Jimmy Zhen , Selina S Dwight , Lawrence Babb , Marina DiStefano , Julianne M O'Daniel , Kristy Lee , Erin R Riggs , Diane B Zastrow , Jessica L Mester , Deborah I Ritter , Ronak Y Patel , Sai Lakshmi Subramanian , Aleksander Milosavljevic , Jonathan S Berg , Heidi L Rehm , Sharon E Plon , J Michael Cherry , Carlos D Bustamante , Helio A Costa , Auteur inconnu

Ketamine Sedation and Hypoxia: A Quality Improvement Project to Reduce Respiratory Events Receiving Intervention.

The Journal of emergency medicine

Avec: Alexandria J Wiersma , Benjamin Bernier , Jan Leonard , Debra Faulk , Michael DiStefano , Joseph Wathen

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.

Cell genomics

Avec: Courtney Thaxton , Jennifer Goldstein , Marina DiStefano , Kathleen Wallace , P Dane Witmer , Melissa A Haendel , Ada Hamosh , Heidi L Rehm , Jonathan S Berg

We need to talk about values: a proposed framework for the articulation of normative reasoning in health technology assessment.

Health economics, policy, and law

Avec: Victoria Charlton , Michael DiStefano , Polly Mitchell , Liz Morrell , Leah Rand , Gabriele Badano , Rachel Baker , Michael Calnan , Kalipso Chalkidou , Anthony Culyer , Daniel Howdon , Dyfrig Hughes , James Lomas , Catherine Max , Christopher McCabe , James F O'Mahony , Mike Paulden , Zack Pemberton-Whiteley , Annette Rid , Paul Scuffham , Mark Sculpher , Koonal Shah , Albert Weale , Gry Wester

Assessment of autonomic symptom scales in patients with neurodevelopmental diagnoses using electronic health record data.

Research in autism spectrum disorders

Avec: A S DiCriscio , D Beiler , J Smith , P Asdell , S Dickey , M DiStefano , V Troiani

Réseau de co-auteurs

Marina DiStefano 3 collaborations

Heidi L Rehm 3 collaborations

Jonathan S Berg 3 collaborations

Courtney Thaxton 2 collaborations

Ada Hamosh 2 collaborations

Sharon E Plon 2 collaborations

Michael DiStefano 2 collaborations

Leslie G Biesecker 1 collaboration

Melissa Haendel 1 collaboration

Emma Owens 1 collaboration

Christine G Preston 1 collaboration

Matt W Wright 1 collaboration

Rao Madhavrao 1 collaboration

Steven M Harrison 1 collaboration

Jennifer L Goldstein 1 collaboration

Xi Luo 1 collaboration

Hannah Wand 1 collaboration

Bryan Wulf 1 collaboration

Gloria Cheung 1 collaboration

Mark E Mandell 1 collaboration

Howard Tong 1 collaboration

Shaung Cheng 1 collaboration

Michael A Iacocca 1 collaboration

Arturo Lopez Pineda 1 collaboration

Alice B Popejoy 1 collaboration

Karen Dalton 1 collaboration

Jimmy Zhen 1 collaboration

Selina S Dwight 1 collaboration

Lawrence Babb 1 collaboration

Julianne M O'Daniel 1 collaboration

Kristy Lee 1 collaboration

Erin R Riggs 1 collaboration

Diane B Zastrow 1 collaboration

Jessica L Mester 1 collaboration

Deborah I Ritter 1 collaboration

Ronak Y Patel 1 collaboration

Sai Lakshmi Subramanian 1 collaboration

Aleksander Milosavljevic 1 collaboration

J Michael Cherry 1 collaboration

Carlos D Bustamante 1 collaboration

Helio A Costa 1 collaboration

None None 1 collaboration

Alexandria J Wiersma 1 collaboration

Benjamin Bernier 1 collaboration

Jan Leonard 1 collaboration

Debra Faulk 1 collaboration

Joseph Wathen 1 collaboration

Jennifer Goldstein 1 collaboration

Kathleen Wallace 1 collaboration

P Dane Witmer 1 collaboration

Melissa A Haendel 1 collaboration

Victoria Charlton 1 collaboration

Polly Mitchell 1 collaboration

Liz Morrell 1 collaboration

Leah Rand 1 collaboration

Gabriele Badano 1 collaboration

Rachel Baker 1 collaboration

Michael Calnan 1 collaboration

Kalipso Chalkidou 1 collaboration

Anthony Culyer 1 collaboration

Daniel Howdon 1 collaboration

Dyfrig Hughes 1 collaboration

James Lomas 1 collaboration

Catherine Max 1 collaboration

Christopher McCabe 1 collaboration

James F O'Mahony 1 collaboration

Mike Paulden 1 collaboration

Zack Pemberton-Whiteley 1 collaboration

Annette Rid 1 collaboration

Paul Scuffham 1 collaboration

Mark Sculpher 1 collaboration

Koonal Shah 1 collaboration

Albert Weale 1 collaboration

Gry Wester 1 collaboration

A S DiCriscio 1 collaboration

D Beiler 1 collaboration

J Smith 1 collaboration

P Asdell 1 collaboration

S Dickey 1 collaboration

V Troiani 1 collaboration