Author details

Full Name

Laurie B Griffin

Affiliation

University of Michigan ann arbor

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
30304524	Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.	Hum Mol Genet	2019
31557132	Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.	J Clin Invest	2019
30304524	Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.	Hum Mol Genet	2019
31557132	Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.	J Clin Invest	2019
29235198	Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.	Hum Mutat	2018
29573043	Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.	Hum Mutat	2018
29235198	Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.	Hum Mutat	2018
29573043	Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.	Hum Mutat	2018
27876679	Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.	Methods	2017
27876679	Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.	Methods	2017
27008886	Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.	Hum Mol Genet	2016
27008886	Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.	Hum Mol Genet	2016
27551683	A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.	Cold Spring Harb Mol Case Stud	2016
27551683	A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.	Cold Spring Harb Mol Case Stud	2016
25817015	Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.	Am J Hum Genet	2015
25904691	A novel AARS mutation in a family with dominant myeloneuropathy.	Neurology	2015
25817015	Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.	Am J Hum Genet	2015
26257172	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.	Cell Rep	2015
26168012	Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.	Nat Genet	2015
26072516	Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.	Brain	2015
26257172	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.	Cell Rep	2015
26072516	Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.	Brain	2015
26168012	Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.	Nat Genet	2015
25904691	A novel AARS mutation in a family with dominant myeloneuropathy.	Neurology	2015
25168514	Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.	Hum Mutat	2014
25168514	Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.	Hum Mutat	2014
23608191	AKAP9 is essential for spermatogenesis and sertoli cell maturation in mice.	Genetics	2013
23608191	AKAP9 is essential for spermatogenesis and sertoli cell maturation in mice.	Genetics	2013
21403840	Ecteinascidin 743 interferes with the activity of EWS-FLI1 in Ewing sarcoma cells.	Neoplasia	2011
21403840	Ecteinascidin 743 interferes with the activity of EWS-FLI1 in Ewing sarcoma cells.	Neoplasia	2011
21653923	Identification of an inhibitor of the EWS-FLI1 oncogenic transcription factor by high-throughput screening.	J Natl Cancer Inst	2011
21653923	Identification of an inhibitor of the EWS-FLI1 oncogenic transcription factor by high-throughput screening.	J Natl Cancer Inst	2011
17784788	Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over.	PLoS Genet	2007
17784788	Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over.	PLoS Genet	2007

1 - 34 of 34

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 12

Chandree L Beaulieu

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa

Career Start Year 2009

Number of shared co-authors 2

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 4

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 11

Lynne A Wolfe

National Institutes of Health Undiagnosed Diseases Program

Career Start Year 2007

Number of shared co-authors 2

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 4

Yan Huang

National Institute of Allergy and Infectious Diseases

Career Start Year 2007

Number of shared co-authors 1

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 2

Kati J Buckingham

University of Washington

Career Start Year 2005

Number of shared co-authors 7

May Christine V Malicdan

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2005

Number of shared co-authors 5

Michael F Wangler

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 8

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 11

Tawfeg Ben-Omran

Hamad Medical Corporation.

Career Start Year 2005

Number of shared co-authors 2

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 11

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 1

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 10

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 3

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 3

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 6

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 9

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 6

Patrick S Tarpey

Wellcome Trust Sanger Institute

Career Start Year 1992

Number of shared co-authors 0

Rita Horvath

School of Clinical Medicine, University of Cambridge

Career Start Year 1991

Number of shared co-authors 3

Henry Houlden

Institute of Neurology, University College London (UCL)

Career Start Year 1991

Number of shared co-authors 9

Dong-Hui Chen

University of Washington School of Medicine

Career Start Year 1988

Number of shared co-authors 0

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 6

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 6

Guy A Rouleau

McGill University, Canada Montreal Neurological Institute and Hospital

Career Start Year 1981

Number of shared co-authors 8

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 4

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 6

row(s) 1 - 30 of 30

Stephan Z??chner

Hussman Institute for Human Genomics, University of Miami

Co-authored papers 4

Qing-Rong Chen

Center for Biomedical Informatics and Information Technology

Co-authored papers 2

James R Lupski

Baylor College of Medicine

Co-authored papers 2

Choh Yeung

Center for Cancer Research, National Cancer Institute

Co-authored papers 2

Javed Khan

Center for Cancer Research, National Cancer Institute

Co-authored papers 2

Lee J Helman

Osteosarcoma Institute

Co-authored papers 2

Michael A Gonzalez

The Genesis Project Foundation

Co-authored papers 2

John C Schimenti

Co-authored papers 2

Patrick J Grohar

Children's Hospital of Philadelphia.

Co-authored papers 2

Chand Khanna

National Cancer Institute, National Institutes of Health

Co-authored papers 2

Shalini N Jhangiani

Baylor College of Medicine

Co-authored papers 1

Vincent J Carson

Co-authored papers 1

Cynthia A Prows

Cincinnati Children's Hospital Medical Center

Co-authored papers 1

Andrea H N??meth

University of Oxford

Co-authored papers 1

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Co-authored papers 1

Karlla W Brigatti

Co-authored papers 1

Yaping Yang

Baylor College of Medicine

Co-authored papers 1

Wojciech Wiszniewski

Oregon Health & Sciences University

Co-authored papers 1

Ezgi Karaca

Dokuz Eylul University

Co-authored papers 1

James B McMahon

Center for Cancer Research, National Cancer Institute

Co-authored papers 1

Donna M Muzny

Baylor College of Medicine

Co-authored papers 1

Yves Pommier

Center for Cancer Research, National Cancer Institute

Co-authored papers 1

Girma M Woldemichael

Center for Cancer Research, National Cancer Institute

Co-authored papers 1

Sean Davis

Johns Hopkins School of Medicine, National Cancer Institute, Princeton University, University of Colorado Anschutz Medical Campus, University of Pittsburgh, University of Washington

Co-authored papers 1

Marjorie Withers

Baylor College of Medicine

Co-authored papers 1

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Co-authored papers 1

Eric Boerwinkle

Baylor College of Medicine

Co-authored papers 1

John D Overton

Regeneron Pharmaceuticals