Author details

Full Name

Mark Matsushita

Affiliation

University of Washington

ORCID

Career Start Year

1992

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34061398	Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.	J Leukoc Biol	2021
33101276	Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.	Front Immunol	2020
30854516	Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.	Biomark Genes	2017
27259050	Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.	Am J Hum Genet	2016
27120335	Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.	PLoS One	2016
26076170	R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.	JAMA Neurol	2015
24807833	Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of letters, numbers, and colors.	Am J Med Genet B Neuropsychiatr Genet	2014
24810580	De novo microdeletion of BCL11A is associated with severe speech sound disorder.	Am J Med Genet A	2014
24027063	Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.	Hum Mutat	2013
22095694	Evidence for involvement of GNB1L in autism.	Am J Med Genet B Neuropsychiatr Genet	2012
22782511	Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.	Arch Neurol	2012
22920929	Wenckebach periodicity at rest that normalizes with tachycardia in a family with a NKX2.5 mutation.	Am J Cardiol	2012
22517379	Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family.	Psychiatr Genet	2012
20852926	Genome scan for spelling deficits: effects of verbal IQ on models of transmission and trait gene localization.	Behav Genet	2011
21484596	Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample.	J Neurodev Disord	2011
21081672	Global processing speed in children with low reading ability and in children and adults with typical reading ability: exploratory factor analytic models.	J Speech Lang Hear Res	2011
20629132	A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.	Mov Disord	2010
21115951	CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.	Neurology	2010
20633900	A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.	J Neurol Sci	2010
18980218	Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.	Am J Med Genet B Neuropsychiatr Genet	2009
19409521	IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.	Am J Hum Genet	2009
18607713	Genome scan of a nonword repetition phenotype in families with dyslexia: evidence for multiple loci.	Behav Genet	2008
18553554	Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?	Am J Med Genet A	2008
17450541	Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia.	Am J Med Genet B Neuropsychiatr Genet	2007
16331673	Genomewide scan for real-word reading subphenotypes of dyslexia: novel chromosome 13 locus and genetic complexity.	Am J Med Genet B Neuropsychiatr Genet	2006
15753956	A genome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency.	Mol Psychiatry	2005
15824357	The clinical and genetic spectrum of spinocerebellar ataxia 14.	Neurology	2005
15824259	Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.	Arch Neurol	2005
15389770	Linkage analyses of four regions previously implicated in dyslexia: confirmation of a locus on chromosome 15q.	Am J Med Genet B Neuropsychiatr Genet	2004
12644968	Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.	Am J Hum Genet	2003
11992570	Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.	Am J Med Genet	2002
12164726	A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.	Arch Neurol	2002
12200364	X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.	Blood	2002
11445636	Hereditary benign chorea: clinical and genetic features of a distinct disease.	Neurology	2001
11310626	Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.	Ann Neurol	2001
10733494	Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia.	Blood	2000
9490305	Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34.	Hum Genet	1998
9463333	Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.	Am J Hum Genet	1998
9521425	Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.	Hum Mutat	1998
8818661	Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas.	Genes Chromosomes Cancer	1996
7726169	Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.	Am J Hum Genet	1995
8100603	Clonal remission in childhood acute myeloid leukemia is an infrequent event.	Leukemia	1993
1642230	Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.	Am J Hum Genet	1992

1 - 43 of 43

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 4

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

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 2

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

Career Start Year 2002

Number of shared co-authors 1

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 0

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 2

Bridget A Fernandez

Memorial University of Newfoundland

Career Start Year 1999

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 1

Wojciech Wiszniewski

Oregon Health & Sciences University

Career Start Year 1998

Number of shared co-authors 3

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 7

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 2

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 13

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 3

Vandana Shashi

Duke University School of Medicine

Career Start Year 1994

Number of shared co-authors 5

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 3

Andrea H N??meth

University of Oxford

Career Start Year 1993

Number of shared co-authors 0

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Career Start Year 1993

Number of shared co-authors 2

Bert B A de Vries

Radboud University Medical Center

Career Start Year 1992

Number of shared co-authors 4

Jeffrey R Gruen

Yale Medical School

Career Start Year 1991

Number of shared co-authors 0

Stephen W Scherer

The Hospital for Sick Children

Career Start Year 1990

Number of shared co-authors 6

Michael J Bamshad

University of Washington

Career Start Year 1989

Number of shared co-authors 12

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 0

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 2

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 1

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 0

Linda M Brzustowicz

The State University of New Jersey

Career Start Year 1983

Number of shared co-authors 1

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 3

James R Lupski

Baylor College of Medicine

Career Start Year 1981

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

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 0

row(s) 1 - 30 of 30

Wendy H Raskind

University of Washington School of Medicine

Co-authored papers 43

Thomas D Bird

University of Washington School of Medicine

Co-authored papers 17

Zoran Brkanac

University of Washington

Co-authored papers 12

Virginia W Berninger

University of Washington

Co-authored papers 9

Dong-Hui Chen

University of Washington School of Medicine

Co-authored papers 7

Kostantin Kiianitsa

University of Washington

Co-authored papers 3

Olena Korvatska

University of Washington

Co-authored papers 3

Deborah A Nickerson

University of Washington

Co-authored papers 3

Santhosh Girirajan

The Huck Institutes of Life Sciences, University Park, Pennsylvania State University

Co-authored papers 3

Evan E Eichler

University of Washington

Co-authored papers 2

Ying-Zhang Chen

University of Washington

Co-authored papers 2

Kathy K Niakan

The Francis Crick Institute

Co-authored papers 2

Irina Kurtz

University of Washington

Co-authored papers 2

Emily S Bonkowski

University of Washington School of Public Health.

Co-authored papers 2

George Stamatoyannopoulos

University of Washington

Co-authored papers 2

Patrick J Cimino

Co-authored papers 2

Michael O Dorschner

University of Washington

Co-authored papers 2

James B Leverenz

Lou Ruvo Center for Brain Health, Cleveland Clinic

Co-authored papers 2

Mark J Rieder

Co-authored papers 2

David H Spencer

Washington University School of Medicine.

Co-authored papers 1

Siob??n B Keel

University of Washington School of Medicine

Co-authored papers 1

Malia Rumbaugh

Indiana University School of Medicine

Co-authored papers 1

Maynard V Olson

University of Washington

Co-authored papers 1

Christopher Dirk Keene

University of Washington

Co-authored papers 1

Stuart H Orkin

Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School

Co-authored papers 1

Benjamin F Cravatt

Scripps Research Institute

Co-authored papers 1

Ian B Stanaway

Kidney Research Institute and Division of Nephrology, University of Washington

Co-authored papers 1

Ming T Tsuang

University of California San Diego

Co-authored papers 1

Jay Shendure

University of Washington

Co-authored papers 1

Arno G Motulsky

University of Washington

Co-authored papers 1

1 - 30

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