Author details

Full Name

Manuel Holtgrewe

Affiliation

Berlin Institute of Health

ORCID

Career Start Year

2011

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36586737	TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.	Neurobiol Aging	2023
34744167	Combining callers improves the detection of copy number variants from whole-genome sequencing.	Eur J Hum Genet	2022
37498129	SODAR: managing multiomics study data and metadata.	Gigascience	2022
35536377	Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.	Hum Genet	2022
35600330	Highly multiplexed immune repertoire sequencing links multiple lymphocyte classes with severity of response to COVID-19.	EClinicalMedicine	2022
35751599	ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.	Bioinformatics	2022
36589413	Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutations.	HGG Adv	2022
36309531	Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.	Nat Commun	2022
35877578	Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?	J Cardiovasc Dev Dis	2022
35095096	Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).	J Hum Genet	2022
34379057	Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.	J Med Genet	2022
34515563	Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.	J Dent Res	2022
33320377	Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.	J Inherit Metab Dis	2021
33875290	Shared and oppositely regulated transcriptomic signatures in Huntington's disease and brain ischemia confirm known and unveil novel potential neuroprotective genes.	Neurobiol Aging	2021
33727568	PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.	Sci Rep	2021
33495529	CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.	Genet Med	2021
34436670	Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.	Hum Genet	2021
34490415	Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.	EClinicalMedicine	2021
34482537	GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.	Clin Genet	2021
34159400	Genome sequencing in families with congenital limb malformations.	Hum Genet	2021
34213952	Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.	Circ Genom Precis Med	2021
32345996	Investigating APOE, APP-AÎ² metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.	Sci Rep	2020
31810576	Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.	Eur J Paediatr Neurol	2020
31923704	Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.	Bone	2020
33242881	Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.	Brain	2020
32592542	Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.	Am J Med Genet A	2020
32755546	Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.	Am J Hum Genet	2020
32338743	VarFish: comprehensive DNA variant analysis for diagnostics and research.	Nucleic Acids Res	2020
32505691	An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.	Eur J Med Genet	2020
32117635	SCelVis: exploratory single cell data analysis on the desktop and in the cloud.	PeerJ	2020
32470376	Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.	Am J Hum Genet	2020
30679821	Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.	Genet Med	2019
31775766	Identification and ranking of recurrent neo-epitopes in cancer.	BMC Med Genomics	2019
31568572	Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.	Clin Genet	2019
30279461	Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.	Sci Rep	2018
28334360	HLA-MA: simple yet powerful matching of samples using HLA typing results.	Bioinformatics	2017
25649620	Methods for the detection and assembly of novel sequence in high-throughput sequencing data.	Bioinformatics	2015
26562621	Next-generation diagnostics and disease-gene discovery with the Exomiser.	Nat Protoc	2015
24712884	Genome alignment with graph data structures: a comparison.	BMC Bioinformatics	2014
25161220	Fiona: a parallel and automatic strategy for read error correction.	Bioinformatics	2014
22923295	RazerS 3: faster, fully sensitive read mapping.	Bioinformatics	2012
21615913	A novel and well-defined benchmarking method for second generation read mapping.	BMC Bioinformatics	2011

1 - 42 of 42

Gundula Povysil

Institute for Genomic Medicine, Columbia University Medical Center

Career Start Year 2016

Number of shared co-authors 6

Ben Weisburd

Broad Institute of MIT and Harvard

Career Start Year 2012

Number of shared co-authors 3

Fritz J Sedlazeck

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 0

Ryan M Layer

Boulder and BioFrontiers Institute, University of Colorado Boulder

Career Start Year 2011

Number of shared co-authors 0

Erika Souche

Center for Human Genetics

Career Start Year 2010

Number of shared co-authors 2

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 18

Henrik Stranneheim

Karolinska Institutet

Career Start Year 2009

Number of shared co-authors 2

Jeroen F J Laros

National Institute for Public Health and the Environment

Career Start Year 2009

Number of shared co-authors 1

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 6

Martin Kircher

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

Career Start Year 2008

Number of shared co-authors 6

Tobias Rausch

University of Heidelberg

Career Start Year 2008

Number of shared co-authors 3

Aaron R Quinlan

University of Utah

Career Start Year 2007

Number of shared co-authors 0

Fereydoun Hormozdiari

University of California davis

Career Start Year 2007

Number of shared co-authors 0

Jeffrey G Reid

Regeneron Pharmaceuticals, Inc.

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 3

Stephan Ossowski

Institute of Medical Genetics and Applied Genomics, University of Tubingen

Career Start Year 2006

Number of shared co-authors 10

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 1

Vikas Bansal

University of California San Diego

Career Start Year 2004

Number of shared co-authors 1

Lachlan J M Coin

The Peter Doherty Institute for Infection and Immunity, The University of Melbourne

Career Start Year 2003

Number of shared co-authors 1

Yufeng Shen

Columbia University

Career Start Year 2002

Number of shared co-authors 2

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 5

Kai Wang

University of Pennsylvania

Career Start Year 2001

Number of shared co-authors 16

Michael C Zody

Broad Institute of Harvard and MIT

Career Start Year 2001

Number of shared co-authors 1

Brent S Pedersen

Center for Molecular Medicine, University Medical Center Utrecht

Career Start Year 2001

Number of shared co-authors 0

Michael Brudno

University of Toronto

Career Start Year 2000

Number of shared co-authors 18

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2000

Number of shared co-authors 0

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 12

Jean-Pierre A Kocher

Mayo Clinic

Career Start Year 1991

Number of shared co-authors 0

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

row(s) 1 - 30 of 30

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 12

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 10

Bj??rn Fischer-Zirnsak

Max Planck Institute for Molecular Genetics FG Development and Disease

Co-authored papers 9

Malte Spielmann

Max Planck Institute for Molecular Genetics

Co-authored papers 7

Uwe Kornak

Institute of Human Genetics, University Medical Center Gottingen

Co-authored papers 7

Nadja Ehmke

Berlin Institute of Health at Charite - Universitatsmedizin Berlin

Co-authored papers 7

Knut Reinert

Institut fur Informatik, Freie Universitat Berlin

Co-authored papers 5

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Co-authored papers 4

Marten J??ger

Charite Universitatsmedizin Berlin

Co-authored papers 3

Dominik Seelow

Berliner Institut fur Gesundheitsforschung - Charite

Co-authored papers 3

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 2

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Melissa A Haendel

Co-authored papers 2

Tomasz Zemojtel

Berlin Institute of Health (BIH)

Co-authored papers 2

Max Schubach

Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin

Co-authored papers 2