Undiagnosed Diseases

Subject Vocabulary

MeSH

Unique ID

D000080842

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Spillmann, R. C., Tan, Q. K.-G., Reuter, C., Schoch, K., Kohler, J., Bonner, D., Zastrow, D., Alkelai, A., Baugh, E., Cope, H., Marwaha, S., Wheeler, M. T., Bernstein, J. A., Shashi, V., Acosta, M. T., Adam, M., Adams, D. R., Alvey, J., Amendola, L., … Zuchner, S. (2023). A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genetics in Medicine, 25(4), 100353. https://doi.org/10.1016/j.gim.2022.12.001

Authors:

Mario Saporta

Ta C. Chang

Chloe M. Reuter

Kelly Schoch

Jennefer N. Kohler

Devon Bonner

Diane B. Zastrow

Anna Alkelai

Evan Baugh

Heidi Cope

Shruti Marwaha

Matthew T. Wheeler

Jonathan A. Bernstein

Vandana Shashi

Maria T. Acosta

Margaret P Adam

David R. Adams

Justin Alvey

Laura M. Amendola

Ashley Andrews

Euan A. Ashley

Mahshid S. Azamian

Carlos A. Bacino

Güney Bademci

Ashok Balasubramanyam

Dustin Baldridge

Jim Bale

Michael J. Bamshad

Deborah Barbouth

Pınar Bayrak‐Toydemir

Anita Beck

Alan H. Beggs

Edward M. Behrens

Gill Bejerano

Hugo J. Bellen

Jimmy Bennet

Beverly Berg-Rood

Jonathan A. Bernstein

Gerard T. Berry

Anna Bican

Stephanie Bivona

Elizabeth Blue

John Bohnsack

Devon Bonner

Lorenzo D. Botto

Brenna Boyd

Lauren C. Briere

Elly Brokamp

Gabrielle Brown

Elizabeth A. Burke

Lindsay C. Burrage

Manish J. Butte

Peter H. Byers

William E. Byrd

John C. Carey

Olveen Carrasquillo

Thomas Cassini

Ta C. Chang

Sirisak Chanprasert

Hsiao‐Tuan Chao

Gary Clark

Terra R. Coakley

Laurel A. Cobban

Joy D. Cogan

Matthew Coggins

F. Sessions Cole

Heather A. Colley

Cynthia M. Cooper

William J. Craigen

Andrew B. Crouse

Michael L. Cunningham

Precilla D’Souza

Hongzheng Dai

Surendra Dasari

Joie Davis

Jyoti G. Dayal

Matthew A. Deardorff

Esteban C. Dell’Angelica

Katrina M. Dipple

Daniel Doherty

Naghmeh Dorrani

Argenia L. Doss

Emilie D. Douine

Laura Duncan

Dawn Earl

David J. Eckstein

Lisa Emrick

Christine M. Eng

Cecilia Esteves

Marni J. Falk

Liliana Fernández

Elizabeth L. Fieg

Paul G. Fisher

Brent L. Fogel

Irman Forghani

William A. Gahl

Ian Glass

Bernadette R. Gochuico

Rena A. Godfrey

Katie Golden‐Grant

Affiliated Authors:

Anna Alkelai

Evan Baugh

Anna Bican

Columbia Affiliation:

Institute for Genomic Medicine

Subjects:

Undiagnosed Diseases (MeSH)

Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)

Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)

Genomic Landscape of Cancer and Mutational Signatures (OpenAlex Topic)

Author Keywords:

dual analysis

genomic sequencing

rare diseases

Grants:

U01HG007708 (NIH – National Human Genome Research Institute)

U01HG007672 (NIH – National Human Genome Research Institute)

U01HG007943 (NIH – National Human Genome Research Institute)

U01HG007942 (NIH – National Human Genome Research Institute)

Publication Type:

Article

Unique ID:

10.1016/j.gim.2022.12.001

PMID:

36481303

DOI:

10.1016/j.gim.2022.12.001

Journal:

Genetics in Medicine

Publication Date:

2023-04-01

Data Source:

OpenAlex

Source Link:

View OpenAlex Record

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Record Created:

Tuesday, August 13, 2024 - 11:31

Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting

Lippa, N., Bier, L., Revah-Politi, A., May, H., Kushary, S., Vena, N., Giordano, J. L., Rasouly, H. M., Cocchi, E., Sands, T. T., Wapner, R. J., Anyane-Yeboa, K., Gharavi, A. G., & Goldstein, D. B. (2022). Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. Genetics in Medicine, 24(4), 862–869. https://doi.org/10.1016/j.gim.2021.12.010

Authors:

Natalie Lippa

Louise Bier

Anya Revah-Politi

Halie May

Sulagna Kushary

Natalie Vena

Jessica L. Giordano

Hila Milo Rasouly

Enrico Cocchi

Tristan T. Sands

Ronald J. Wapner

Kwame Anyane-Yeboa

Ali G. Gharavi

David B. Goldstein

Affiliated Authors:

Natalie Lippa

Louise Bier

Anya Revah-Politi

Halie May

Sulagna Kushary

Natalie Vena

Jessica L. Giordano

Hila Milo Rasouly

Enrico Cocchi

Tristan T. Sands

Ronald J. Wapner

Kwame Anyane-Yeboa

Ali G. Gharavi

David B. Goldstein

Columbia Affiliation:

Subjects:

Genetic Testing (MeSH)

Undiagnosed Diseases (MeSH)

Author Keywords:

exome sequencing

genetic diagnosis

precision medicine

stratified medicine

Publication Type:

Article

Unique ID:

10.1016/j.gim.2021.12.010

PMID:

35078725

DOI:

10.1016/j.gim.2021.12.010

Journal:

Genetics in Medicine

Publication Date:

2022-04-01

Data Source:

Scopus

Source Link:

View Scopus Record

View Web of Science Record

View PubMed Record

Record Created:

Wednesday, February 12, 2025 - 14:09

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., Huang, A., Bastarache, L., Bican, A., Cogan, J., Marwaha, S., Alkelai, A., Murdock, D. R., Liu, P., Wegner, D. J., … Kohane, I. S. (2021). Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genetics in Medicine, 23(6), 1075–1085. https://doi.org/10.1038/s41436-020-01084-8

Authors:

Shilpa Nadimpalli Kobren

Dustin Baldridge

Matt Velinder

Joel B. Krier

Kimberly LeBlanc

Cecilia Esteves

Barbara N. Pusey

Stephan Züchner

Elizabeth Blue

Hane Lee

Alden Huang

Lisa Bastarache

Anna Bican

Joy Cogan

Shruti Marwaha

Anna Alkelai

David R. Murdock

Pengfei Liu

Daniel J. Wegner

Alexander J. Paul

Maria T. Acosta

Margaret Adam

David R. Adams

Pankaj B. Agrawal

Mercedes E. Alejandro

Justin Alvey

Laura Amendola

Ashley Andrews

Euan A. Ashley

Mahshid S. Azamian

Carlos A. Bacino

Guney Bademci

Eva Baker

Ashok Balasubramanyam

Jim Bale

Michael Bamshad

Deborah Barbouth

Pinar Bayrak-Toydemir

Anita Beck

Alan H. Beggs

Edward Behrens

Gill Bejerano

Jimmy Bennett

Beverly Berg-Rood

Jonathan A. Bernstein

Gerard T. Berry

Stephanie Bivona

John Bohnsack

Carsten Bonnenmann

Devon Bonner

Lorenzo Botto

Brenna Boyd

Lauren C. Briere

Elly Brokamp

Gabrielle Brown

Elizabeth A. Burke

Lindsay C. Burrage

Manish J. Butte

Peter Byers

William E. Byrd

John Carey

Olveen Carrasquillo

Ta Chen Peter Chang

Sirisak Chanprasert

Hsiao-Tuan Chao

Gary D. Clark

Terra R. Coakley

Laurel A. Cobban

Joy D. Cogan

Matthew Coggins

F. Sessions Cole

Heather A. Colley

Cynthia M. Cooper

Heidi Cope

William J. Craigen

Andrew B. Crouse

Michael Cunningham

Precilla D’Souza

Hongzheng Dai

Surendra Dasari

Joie Davis

Jyoti G. Daya

Matthew Deardorff

Esteban C. Dell’Angelica

Shweta U. Dhar

Katrina Dipple

Daniel Doherty

Naghmeh Dorrani

Argenia L. Doss

Emilie D. Douine

David D. Draper

Laura Duncan

Dawn Earl

David J. Eckstein

Lisa T. Emrick

Christine M. Eng

Marni Falk

Liliana Fernandez

Carlos Ferreira

Elizabeth L. Fieg

Laurie C. Findley

Paul G. Fisher

Brent L. Fogel

Irman Forghani

Laure Fresard

William A. Gahl

Ian Glass

Bernadette Gochuico

Rena A. Godfrey

Katie Golden-Grant

Alica M. Goldman

Madison P. Goldrich

David B. Goldstein

Alana Grajewski

Catherine A. Groden

Irma Gutierrez

Sihoun Hahn

Rizwan Hamid

Neil A. Hanchard

Kelly Hassey

Nichole Hayes

Frances High

Anne Hing

Fuki M. Hisama

Ingrid A. Holm

Jason Hom

Martha Horike-Pyne

Yong Huang

Laryssa Huryn

Rosario Isasi

Fariha Jamal

Gail P. Jarvik

Jeffrey Jarvik

Suman Jayadev

Lefkothea Karaviti

Jennifer Kennedy

Dana Kiley

Jennefer N. Kohler

Susan Korrick

Mary Kozuira

Deborah Krakow

Donna M. Krasnewich

Elijah Kravets

Grace L. LaMoure

Seema R. Lalani

Byron Lam

Christina Lam

Brendan C. Lanpher

Ian R. Lanza

Lea Latham

Brendan H. Lee

Roy Levitt

Richard A. Lewis

Sharyn A. Lincoln

Xue Zhong Liu

Nicola Longo

Sandra K. Loo

Joseph Loscalzo

Richard L. Maas

John MacDowall

Calum A. MacRae

Ellen F. Macnamara

Valerie V. Maduro

Marta M. Majcherska

Bryan C. Mak

May Christine V. Malicdan

Laura A. Mamounas

Teri A. Manolio

Rong Mao

Kenneth Maravilla

Thomas C. Markello

Ronit Marom

Gabor Marth

Beth A. Martin

Martin G. Martin

Julian A. Martinez-Agosto

Jacob McCauley

Allyn McConkie-Rosell

Colleen E. McCormack

Alexa T. McCray

Elisabeth McGee

Heather Mefford

J. Lawrence Merritt

Matthew Might

Ghayda Mirzaa

Eva Morava

Paolo M. Moretti

Deborah Mosbrook-Davis

John J. Mulvihill

Anna Nagy

Mariko Nakano-Okuno

Avi Nath

Stanley F. Nelson

John H. Newman

Sarah K. Nicholas

Deborah Nickerson

Shirley Nieves-Rodriguez

Donna Novacic

Devin Oglesbee

James P. Orengo

Laura Pace

Stephen Pak

J. Carl Pallais

Christina G. S. Palmer

Jeanette C. Papp

Neil H. Parker

John A. Phillips

Jennifer E. Posey

Lorraine Potocki

Bradley Power

Aaron Quinlan

Archana N. Raja

Deepak A. Rao

Wendy Raskind

Genecee Renteria

Chloe M. Reuter

Lynette Rives

Amy K. Robertson

Lance H. Rodan

Jill A. Rosenfeld

Natalie Rosenwasser

Francis Rossignol

Maura Ruzhnikov

Ralph Sacco

Jacinda B. Sampson

Susan L. Samson

Mario Saporta

Judy Schaechter

Timothy Schedl

Kelly Schoch

C. Ron Scott

Daryl A. Scott

Vandana Shashi

Jimann Shin

Rebecca H. Signer

Edwin K. Silverman

Janet S. Sinsheimer

Kathy Sisco

Edward C. Smith

Kevin S. Smith

Emily Solem

Lilianna Solnica-Krezel

Ben Solomon

Rebecca C. Spillmann

Joan M. Stoler

Jennifer A. Sullivan

Kathleen Sullivan

Angela Sun

Shirley Sutton

David A. Sweetser

Virginia Sybert

Holly K. Tabor

Amelia L. M. Tan

Queenie K.-G. Tan

Mustafa Tekin

Fred Telischi

Willa Thorson

Audrey Thurm

Cynthia J. Tifft

Camilo Toro

Alyssa A. Tran

Brianna M. Tucker

Tiina K. Urv

Adeline Vanderver

Dave Viskochil

Tiphanie P. Vogel

Colleen E. Wahl

Melissa Walker

Stephanie Wallace

Nicole M. Walley

Chris A. Walsh

Jennifer Wambach

Jijun Wan

Lee-kai Wang

Michael F. Wangler

Patricia A. Ward

Mark Wener

Tara Wenger

Katherine Wesseling Perry

Monte Westerfield

Matthew T. Wheeler

Jordan Whitlock

Lynne A. Wolfe

Jeremy D. Woods

Shinya Yamamoto

John Yang

Muhammad Yousef

Diane B. Zastrow

Wadih Zein

Chunli Zhao

Stephan Zuchner

Shamil R. Sunyaev

Isaac S. Kohane

Affiliated Authors:

Anna Alkelai

David B. Goldstein

Columbia Affiliation:

Institute for Genomic Medicine

Subjects:

Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)

Genomic Landscape of Cancer and Mutational Signatures (OpenAlex Topic)

RNA Sequencing Data Analysis (OpenAlex Topic)

Genomics (MeSH)

Undiagnosed Diseases (MeSH)

Grants:

U01HG007690 (NIH – National Human Genome Research Institute)

U01HG007674 (NIH – National Human Genome Research Institute)

U01HG007672 (NIH – National Human Genome Research Institute)

U01HG010230 (NIH – National Human Genome Research Institute)

U01HG010218 (NIH – National Human Genome Research Institute)

U01HG007530 (NIH – National Human Genome Research Institute)

U01HG007942 (NIH – National Human Genome Research Institute)

U01HG010217 (NIH – National Human Genome Research Institute)

U01HG010233 (NIH – National Human Genome Research Institute)

U01HG007703 (NIH – National Human Genome Research Institute)

U01HG010215 (NIH – National Human Genome Research Institute)

Publication Type:

Article

Unique ID:

10.1038/s41436-020-01084-8

PMID:

33580225

DOI:

10.1038/s41436-020-01084-8

Journal:

Genetics in Medicine

Publication Date:

2021-06-01

Data Source:

Scopus

Source Link:

View Scopus Record

View PubMed Record

View Web of Science Record

View OpenAlex Record

Record Created:

Tuesday, July 15, 2025 - 09:01

Relation of Antecedent Symptoms to the Likelihood of Detecting Subclinical Atrial Fibrillation With Inserted Cardiac Monitors

Reiffel, J. A., Verma, A., Kowey, P. R., Halperin, J. L., Gersh, B. J., Wachter, R., Elkind, M. S. V., Pouliot, E., & Ziegler, P. D. (2021). Relation of Antecedent Symptoms to the Likelihood of Detecting Subclinical Atrial Fibrillation With Inserted Cardiac Monitors. The American Journal of Cardiology, 145, 64–68. https://doi.org/10.1016/j.amjcard.2020.12.083

Authors:

James A. Reiffel

Atul Verma

Peter R. Kowey

Jonathan L. Halperin

Bernard J. Gersh

Rolf Wachter

Mitchell S.V. Elkind

Erika Pouliot

Paul D. Ziegler

Affiliated Authors:

James A. Reiffel

Mitchell S.V. Elkind

Columbia Affiliation:

Subjects:

Atrial Fibrillation (MeSH)

Undiagnosed Diseases (MeSH)

Publication Type:

Article

Unique ID:

10.1016/j.amjcard.2020.12.083

PMID:

33497655

DOI:

10.1016/j.amjcard.2020.12.083

Journal:

American Journal of Cardiology

Publication Date:

2021-04-15

Data Source:

Scopus

Source Link:

View Scopus Record

View PubMed Record

Record Created:

Thursday, July 24, 2025 - 08:30