M Stephen Meyn

M Stephen Meyn

University of Wisconsin-Madison

H-index: 48

North America-United States

Contact M Stephen Meyn

About M Stephen Meyn

M Stephen Meyn, With an exceptional h-index of 48 and a recent h-index of 31 (since 2020), a distinguished researcher at University of Wisconsin-Madison, specializes in the field of Genome Instability, DNA Repair, Medical Genomics, Cancer Genetics, Predictive Medicine.

His recent articles reflect a diverse array of research interests and contributions to the field:

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Assessing the performance of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): further evidence of inter-rater reliability

Trio RNA sequencing in a cohort of medically complex children

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless.

Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity

Pharmacogenetic profiling via genome sequencing in children with medical complexity

M Stephen Meyn Information

University	University of Wisconsin-Madison
Position	Director Center for Human Genomics and Precision Medicine
Citations(all)	11701
Citations(since 2020)	3729
Cited By	9418
hIndex(all)	48
hIndex(since 2020)	31
i10Index(all)	85
i10Index(since 2020)	54
Email	Access Email
University Profile Page	University of Wisconsin-Madison
Google Scholar	View Google Scholar Profile

M Stephen Meyn Skills & Research Interests

Genome Instability

DNA Repair

Medical Genomics

Cancer Genetics

Predictive Medicine

Top articles of M Stephen Meyn

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

2024

Shantanu Jain

H-Index: 1

Daniel Barsky

H-Index: 13

Gaurav Pandey

H-Index: 23

Ayoti Patra

H-Index: 6

Jian Peng

H-Index: 8

Michael Berry

H-Index: 31

Alan P Boyle

H-Index: 28

Aashish Adhikari

H-Index: 9

Jingqi Chen

H-Index: 6

Robert Wang

H-Index: 2

Yaqiong Wang

H-Index: 4

Maximilian Miller

H-Index: 6

Yanran Wang

H-Index: 1

Yana Bromberg

H-Index: 24

Emidio Capriotti

H-Index: 21

Hannah Carter

H-Index: 10

Giulia Babbi

H-Index: 7

Pietro Di Lena

H-Index: 14

Pier Luigi Martelli

H-Index: 23

Castrense Savojardo

H-Index: 15

Rita Casadio

H-Index: 47

Mark Diekhans

H-Index: 48

Piero Fariselli

H-Index: 28

Gustavo Parisi

H-Index: 18

Julien Gagneur

H-Index: 31

Matthew D Edwards

H-Index: 11

Yuchun Guo

H-Index: 7

Yu Yao

H-Index: 4

Dongsup Kim

H-Index: 21

Violeta Beleva Guthrie

H-Index: 10

Rohit Bhattacharya

H-Index: 9

Christopher Douville

H-Index: 17

Jean Fan

H-Index: 14

Noushin Niknafs

H-Index: 21

Sohini Sengupta

H-Index: 9

Collin Tokheim

H-Index: 16

Rachel Karchin

H-Index: 43

Rene Welch

H-Index: 4

Sunduz Keles

H-Index: 32

Li Yue

H-Index: 2

Manolis Kellis

H-Index: 111

Carles Corbi-Verge

H-Index: 10

Anshul Kundaje

H-Index: 49

Angel Cy Mak

H-Index: 18

Doron Lancet

H-Index: 44

Insuk Lee

H-Index: 29

Panagiotis Katsonis

H-Index: 18

Olivier Lichtarge

H-Index: 32

Assessing the performance of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): further evidence of inter-rater reliability

Clinical Therapeutics

2023/8/1

M Stephen Meyn

H-Index: 26

Trio RNA sequencing in a cohort of medically complex children

The American Journal of Human Genetics

2023/5/4

Arun Ramani

H-Index: 18

Roberto Mendoza-Londono

H-Index: 26

Michael Brudno

H-Index: 40

Adam Shlien

H-Index: 33

M Stephen Meyn

H-Index: 26

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

Nature Cancer

2023/2

Scott Davidson

H-Index: 8

Sarah Cohen-Gogo

H-Index: 4

Fabio Fuligni

H-Index: 21

Lisa-Monique Edward

H-Index: 2

Nicholas Light

H-Index: 6

Mehdi Layeghifard

H-Index: 9

Federico Comitani

H-Index: 8

Andrew Shuen

H-Index: 10

Maria Montero

H-Index: 5

Vijay Ramaswamy

H-Index: 52

Adam Shlien

H-Index: 33

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation

Platelets

2023/12/31

M Stephen Meyn

H-Index: 26

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless.

2023/9/22

Andrew Hughes

H-Index: 13

John Christodoulou

H-Index: 28

Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity

European Journal of Human Genetics

2022/12

M Stephen Meyn

H-Index: 26

Pharmacogenetic profiling via genome sequencing in children with medical complexity

Pediatric Research

2023/3

Eyal Cohen

H-Index: 32

M Stephen Meyn

H-Index: 26

Susan Walker

H-Index: 6

Telehealth in Genetics: The Genetic Counselor Perspective on the Utility of Telehealth in Response to the COVID-19 Pandemic in Wisconsin

WMJ: Official Publication of the State Medical Society of Wisconsin

2022/4/1

M Stephen Meyn

H-Index: 26

Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?

Journal of Genetic Counseling

2022/4

Susan Walker

H-Index: 6

Eyal Cohen

H-Index: 32

M Stephen Meyn

H-Index: 26

eP431: Applying the clinician-reported genetic testing utility InDEx (C-GUIDE) to genome sequencing

Genetics in Medicine

2022/3/1

Robin Hayeems

H-Index: 16

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability

Genetics in Medicine

2022/2/1

Andrea Shugar

H-Index: 12

M Stephen Meyn

H-Index: 26

Performance of the McGill interactive pediatric OncoGenetic guidelines for identifying cancer predisposition syndromes

JAMA oncology

2021/12/1

Leora Witkowski

H-Index: 18

Sonia Cellot

H-Index: 12

M Stephen Meyn

H-Index: 26

Vijay Ramaswamy

H-Index: 52

My Linh Thibodeau

H-Index: 5

Daniel Sinnett

H-Index: 30

Nada Jabado

H-Index: 73

Adam Shlien

H-Index: 33

Nandini Dendukuri

H-Index: 41

Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges

American Journal of Medical Genetics Part A

2021/6/22

Susan Walker

H-Index: 6

M Stephen Meyn

H-Index: 26

Steven P Miller

H-Index: 55

Kamiar Mireskandari

H-Index: 16

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

The American Journal of Human Genetics

2021/6/3

Susan Walker

H-Index: 6

Hui Yang

H-Index: 6

Jennifer Campbell

H-Index: 10

Arie Van Haeringen

H-Index: 28

Elizabeth Bhoj

H-Index: 18

Konrad Platzer

H-Index: 12

Peter Kannu

H-Index: 17

The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning

American Journal of Medical Genetics Part A

2021/4

M Stephen Meyn

H-Index: 26

Histone H3. 3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances

2020/12/1

Dong Li

H-Index: 11

Khadija Wilson

H-Index: 2

Pearl Lee

H-Index: 13

Divya Nair

H-Index: 3

Matias Wagner

H-Index: 12

Thomas Klopstock

H-Index: 52

Juliane Winkelmann

H-Index: 51

M Stephen Meyn

H-Index: 26

Julian A Martinez-Agosto

H-Index: 35

Eric Vilain

H-Index: 43

Giovanni Battista Ferrero

H-Index: 31

Francesca Clementina Radio

H-Index: 9

Alfredo Brusco

H-Index: 26

Jennifer Norman

H-Index: 5

Raymond J Louie

H-Index: 12

Adeline Vanderver

H-Index: 10

Wendy Chung

H-Index: 81

Genome sequencing as a diagnostic test in children with unexplained medical complexity

JAMA network open

2020/9/1

Susan Walker

H-Index: 6

Brett Trost

H-Index: 19

Roberto Mendoza-Londono

H-Index: 26

Eyal Cohen

H-Index: 32

M Stephen Meyn

H-Index: 26

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