Author details

Full Name

Murat Sincan

Affiliation

Boston University School of Public Health

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37546893	Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus.	medRxiv	2023
30334750	Deep Geodesic Learning for Segmentation and Anatomical Landmarking.	IEEE Trans Med Imaging	2019
31668172	Data-driven method to enhance craniofacial and oral phenotype vocabularies.	J Am Dent Assoc	2019
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
29120065	Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.	Clin Genet	2018
29373073	Transcriptional profiling reveals gland-specific differential expression in the three major salivary glands of the adult mouse.	Physiol Genomics	2018
28603714	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2017
27253732	Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.	Genet Med	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
27785453	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2016
27417368	The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families.	Children (Basel)	2015
24863970	Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.	Mol Genet Metab	2014
25276091	Developing genomic knowledge bases and databases to support clinical management: current perspectives.	Pharmgenomics Pers Med	2014
24784157	The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.	Genet Med	2014
23041322	Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.	Gastroenterology	2013
23443029	Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.	Eur J Hum Genet	2013
23453856	Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).	Neuromuscul Disord	2013
22146942	Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.	Eur J Hum Genet	2012
22675082	Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.	Neurology	2012
22311686	An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.	Hum Mutat	2012
22277120	Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.	Mol Genet Metab	2012
22237431	The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.	Genet Med	2012
22294350	Detecting false-positive signals in exome sequencing.	Hum Mutat	2012
22290882	Analysis of DNA sequence variants detected by high-throughput sequencing.	Hum Mutat	2012
22290570	VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.	Hum Mutat	2012
21767969	Personalized genomic medicine: lessons from the exome.	Mol Genet Metab	2011
15032077	Effects of lossy image compression on quantitative image analysis of cell nuclei.	Anal Quant Cytol Histol	2004

1 - 27 of 27

Elly Brokamp

Vanderbilt Genetics Institute, Vanderbilt University Medical Center

Career Start Year 2018

Number of shared co-authors 3

Rebecca C Spillmann

Duke University School of Medicine

Career Start Year 2015

Number of shared co-authors 5

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 7

John J Connolly

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2012

Number of shared co-authors 2

Rebecca Truty

Invitae Corporation

Career Start Year 2012

Number of shared co-authors 4

Kandamurugu Manickam

Nationwide Children's Hospital, The Ohio State University College of Medicine

Career Start Year 2010

Number of shared co-authors 0

Matthew S Lebo

Harvard Medical School, Brigham and Women's Hospital

Career Start Year 2009

Number of shared co-authors 3

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 11

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 18

Catherine A Brownstein

Harvard Medical School.

Career Start Year 2008

Number of shared co-authors 24

Jeffrey G Reid

Regeneron Pharmaceuticals, Inc.

Career Start Year 2007

Number of shared co-authors 4

Kevin M Bowling

Washington University School of Medicine

Career Start Year 2006

Number of shared co-authors 0

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 1

Joel B Krier

Brigham and Women's Hospital

Career Start Year 2005

Number of shared co-authors 15

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 3

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 4

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 13

Caroline F Wright

University of Exeter, Royal Devon and Exeter Hospital

Career Start Year 2003

Number of shared co-authors 14

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 8

Noura S Abul-Husn

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai

Career Start Year 2002

Number of shared co-authors 4

Kai Wang

University of Pennsylvania

Career Start Year 2001

Number of shared co-authors 23

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 7

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 5

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 4

Michael O Dorschner

University of Washington

Career Start Year 1997

Number of shared co-authors 4

Heidi L Rehm

The Broad Institute of MIT and Harvard

Career Start Year 1996

Number of shared co-authors 29

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 7

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 8

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 15

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 13

row(s) 1 - 30 of 30

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 20

David R Adams

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 17

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 17

Thomas C Markello

National Institutes of Health

Co-authored papers 14

Cynthia J Tifft

National Human Genome Research Institute

Co-authored papers 11

Camilo Toro

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 9

Lynne A Wolfe

National Institutes of Health Undiagnosed Diseases Program

Co-authored papers 7

Gretchen Golas

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 7

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 7

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 5

Elizabeth Lee

National Institutes of Health

Co-authored papers 5

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Co-authored papers 5

Melissa A Haendel

Co-authored papers 5

Amanda E Links

National Institutes of Health

Co-authored papers 4

Jessica Guzm??n-Morales

Stanford University

Co-authored papers 4

Yan Huang

National Institute of Allergy and Infectious Diseases

Co-authored papers 4

Catherine Groden

National Institutes of Health Intramural Research Program

Co-authored papers 4

Dimitre R Simeonov

University of California San Francisco

Co-authored papers 4

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 4

Colleen Wahl

National Institutes of Health

Co-authored papers 4

Rena Godfrey

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Michele Nehrebecky

National Human Genome Research Institute, National Institutes of Health (NIH)

Co-authored papers 4

David Draper

National Institutes of Health

Co-authored papers 4

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 3

Elise Valkanas

Massachusetts General Hospital

Co-authored papers 3

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 3

Michael Brudno

University of Toronto

Co-authored papers 3

William P Bone

University of Pennsylvania - Perelman School of Medicine

Co-authored papers 3

Zaheer Valivullah

Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Co-authored papers 3

Elise Flynn

Royal Children's Hospital