Author details

Full Name

Marten J??ger

Affiliation

Charite Universitatsmedizin Berlin

ORCID

Career Start Year

2010

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34744167	Combining callers improves the detection of copy number variants from whole-genome sequencing.	Eur J Hum Genet	2022
35670808	Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.	Genet Med	2022
34145278	Live-cell imaging of circadian clock protein dynamics in CRISPR-generated knock-in cells.	Nat Commun	2021
30677223	An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology.	J Cell Mol Med	2019
31430258	Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.	J Clin Invest	2019
29310717	Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.	Genome Med	2018
30279461	Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.	Sci Rep	2018
29491455	Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis.	Leukemia	2018
27924012	L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.	Nucleic Acids Res	2017
29100093	De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.	Am J Hum Genet	2017
26195043	Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).	Clin Genet	2016
27964746	Alternate-locus aware variant calling in whole genome sequencing.	Genome Med	2016
27569544	A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.	Am J Hum Genet	2016
25407900	MiR-497â¿¼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling.	J Bone Miner Res	2015
26562621	Next-generation diagnostics and disease-gene discovery with the Exomiser.	Nat Protoc	2015
24677618	Jannovar: a java library for exome annotation.	Hum Mutat	2014
25186178	Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.	Sci Transl Med	2014
23995701	Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.	Genome Res	2013
21435219	Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.	BMC Genomics	2011
21305018	MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.	PLoS One	2011
20144947	Microindel detection in short-read sequence data.	Bioinformatics	2010
20802478	Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.	Nat Genet	2010

1 - 22 of 22

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 7

Ben Weisburd

Broad Institute of MIT and Harvard

Career Start Year 2012

Number of shared co-authors 3

Ryan M Layer

Boulder and BioFrontiers Institute, University of Colorado Boulder

Career Start Year 2011

Number of shared co-authors 0

Aaron M Wenger

Stanford School of Medicine

Career Start Year 2010

Number of shared co-authors 3

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 18

Martin Kircher

Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin

Career Start Year 2008

Number of shared co-authors 5

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 3

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 3

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Career Start Year 2007

Number of shared co-authors 2

Jeffrey G Reid

Regeneron Pharmaceuticals, Inc.

Career Start Year 2007

Number of shared co-authors 2

Mark J Cowley

Children's Cancer Institute, Lowy Cancer Research Centre

Career Start Year 2006

Number of shared co-authors 5

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 4

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 0

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 1

Alicia Hawes

Regeneron Pharmaceuticals Inc.

Career Start Year 2004

Number of shared co-authors 0

Daniel G MacArthur

Broad Institute of MIT and Harvard

Career Start Year 2003

Number of shared co-authors 7

Yufeng Shen

Columbia University

Career Start Year 2002

Number of shared co-authors 1

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 5

Dominik Seelow

Berliner Institut fur Gesundheitsforschung - Charite

Career Start Year 2002

Number of shared co-authors 24

Timo Lassmann

Telethon Kids Institute, University of Western Australia

Career Start Year 2002

Number of shared co-authors 2

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 1

Michael Brudno

University of Toronto

Career Start Year 2000

Number of shared co-authors 20

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2000

Number of shared co-authors 1

Paul Flicek

European Bioinformatics Institute

Career Start Year 1999

Number of shared co-authors 10

Michael O Dorschner

University of Washington

Career Start Year 1997

Number of shared co-authors 2

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 11

Elizabeth A Worthey

Heersink School of Medicine, The University of Alabama at Birmingham

Career Start Year 1995

Number of shared co-authors 3

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 7

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1985

Number of shared co-authors 2

Kelly A Frazer

University of California, USA Institute for Genomic Medicine

Career Start Year 1967

Number of shared co-authors 1

row(s) 1 - 30 of 30

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 15

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 12

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Co-authored papers 10

Tomasz Zemojtel

Berlin Institute of Health (BIH)

Co-authored papers 7

Jochen Hecht

The Barcelona Institute of Science and Technology

Co-authored papers 6

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 6

Max Schubach

Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin

Co-authored papers 5

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 5

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 4

Malte Spielmann

Max Planck Institute for Molecular Genetics

Co-authored papers 4

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 3

Uwe Kornak

Institute of Human Genetics, University Medical Center Gottingen

Co-authored papers 3

Nadja Ehmke

Berlin Institute of Health at Charite - Universitatsmedizin Berlin

Co-authored papers 3

Ulrike Kr??ger

Berlin Institute of Health (BIH)

Co-authored papers 3

Sandra C Doelken

Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin