Author details

Full Name

Tomasz Zemojtel

Affiliation

Berlin Institute of Health (BIH)

ORCID

Career Start Year

2001

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35276006	Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.	J Clin Endocrinol Metab	2022
34145278	Live-cell imaging of circadian clock protein dynamics in CRISPR-generated knock-in cells.	Nat Commun	2021
34490415	Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.	EClinicalMedicine	2021
34201538	CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.	Genes (Basel)	2021
32337850	The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.	Mol Genet Genomic Med	2020
32009247	Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.	EMBO J	2020
33161228	Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA.	EBioMedicine	2020
32796691	Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.	Int J Mol Sci	2020
32612575	SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).	Front Endocrinol (Lausanne)	2020
30610028	Genomic landscape and clonal evolution of acute myeloid leukemia with t(8;21): an international study on 331 patients.	Blood	2019
31753813	Serial liquid biopsies for detection of treatment failure and profiling of resistance mechanisms in <i>KLC1-ALK</i>-rearranged lung cancer.	Cold Spring Harb Mol Case Stud	2019
31781089	Multi-Parameter Analysis of Biobanked Human Bone Marrow Stromal Cells Shows Little Influence for Donor Age and Mild Comorbidities on Phenotypic and Functional Properties.	Front Immunol	2019
30403573	Role of Donor Clonal Hematopoiesis in Allogeneic Hematopoietic Stem-Cell Transplantation.	J Clin Oncol	2019
30669647	Detection of TP53 Mutations in Tissue or Liquid Rebiopsies at Progression Identifies ALK+ Lung Cancer Patients with Poor Survival.	Cancers (Basel)	2019
29146755	Ocular findings in Loeys-Dietz syndrome.	Br J Ophthalmol	2018
29389715	Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.	Clin Dysmorphol	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
28390009	Mutations in proteasome-related genes are associated with thyroid hemiagenesis.	Endocrine	2017
28376765	The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.	BMC Cancer	2017
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
25644381	X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.	Mol Psychiatry	2016
27964746	Alternate-locus aware variant calling in whole genome sequencing.	Genome Med	2016
27596133	Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.	Atherosclerosis	2016
27282648	BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.	Am J Med Genet A	2016
27569544	A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.	Am J Hum Genet	2016
27179278	Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.	Pol J Pathol	2016
27030147	Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.	J Hum Genet	2016
25293717	Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.	Eur J Hum Genet	2015
26562621	Next-generation diagnostics and disease-gene discovery with the Exomiser.	Nat Protoc	2015
26320891	Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.	Am J Hum Genet	2015
26096994	FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.	Eur J Med Genet	2015
26119816	The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.	Am J Hum Genet	2015
25546334	Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.	Hum Mutat	2015
24706454	Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.	Birth Defects Res A Clin Mol Teratol	2014
25078397	Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.	Bioinformatics	2014
25186178	Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.	Sci Transl Med	2014
23709756	Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.	J Med Genet	2013
22302574	Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads.	Bioinformatics	2012
22448161	P53 binding sites in transposons.	Front Genet	2012
21156198	Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators.	Gene	2011
22016335	CpG deamination creates transcription factor-binding sites with high efficiency.	Genome Biol Evol	2011
21937992	Deep sequencing reveals 50 novel genes for recessive cognitive disorders.	Nature	2011
21726432	MIA is a potential biomarker for tumour load in neurofibromatosis type 1.	BMC Med	2011
21118999	NOA1 is an essential GTPase required for mitochondrial protein synthesis.	Mol Biol Cell	2011
20170508	Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacity.	BMC Evol Biol	2010
18784923	Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.	Ann Hematol	2009
19148706	PBX1 is dispensable for neural commitment of RA-treated murine ES cells.	In Vitro Cell Dev Biol Anim	2009
19101055	Methylation and deamination of CpGs generate p53-binding sites on a genomic scale.	Trends Genet	2009
19193150	Systems-level evidence of transcriptional co-regulation of yeast protein complexes.	J Comput Biol	2009

1 - 50 of 63

Marta Gut

Universitat de Barcelona (UB)

Career Start Year 2010

Number of shared co-authors 6

Nagarajan Paramasivam

National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ)

Career Start Year 2009

Number of shared co-authors 5

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 5

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 3

Hongbo M Xie

Huadong Hospital Affiliated to Fudan University

Career Start Year 2007

Number of shared co-authors 0

Karin S Kassahn

Adelaide Medical School, The University of Adelaide

Career Start Year 2007

Number of shared co-authors 3

Tommaso Mazza

Fondazione IRCCS Casa Sollievo della Sofferenza,71013

Career Start Year 2005

Number of shared co-authors 3

Robert Huether

Division of Clinical Genomics

Career Start Year 2005

Number of shared co-authors 2

Elia Stupka

Center for Omics Sciences, IRCCS San Raffaele Scientific Institute

Career Start Year 2000

Number of shared co-authors 6

Martin S Taylor

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 2000

Number of shared co-authors 7

Shawn Levy

HudsonAlpha Institute for Biotechnology

Career Start Year 1999

Number of shared co-authors 4

Jacob Shujui Hsu

Graduate Institute of Medical Genomics and Proteomics, National Taiwan University

Career Start Year 1999

Number of shared co-authors 13

Sarah J Wheelan

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1998

Number of shared co-authors 2

Edwin Cuppen

Hartwig Medical Foundation

Career Start Year 1997

Number of shared co-authors 1

Colin A Semple

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 1997

Number of shared co-authors 5

David Torrents

Institucio Catalana de Recerca i Estudis Avancats (ICREA)

Career Start Year 1996

Number of shared co-authors 20

Ping Liang

College of Chemistry and Chemical Engineering, Hunan University

Career Start Year 1995

Number of shared co-authors 1

Roderic Guig??

Barcelona Institute of Science and Technology

Career Start Year 1990

Number of shared co-authors 18

Yasushi Okazaki

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University

Career Start Year 1989

Number of shared co-authors 8

Chris P Ponting

The University of Edinburgh

Career Start Year 1989

Number of shared co-authors 5

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 10

Richard A Gibbs

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 24

Steven E Scherer

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 7

Eric S Lander

Vanderbilt-Ingram Cancer Center, Vanderbilt University

Career Start Year 1986

Number of shared co-authors 4

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1985

Number of shared co-authors 5

Richard K Wilson

The Ohio State University

Career Start Year 1983

Number of shared co-authors 2

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 17

Johan T den Dunnen

Leiden University Medical Center

Career Start Year 1982

Number of shared co-authors 20

Richard M Myers

HudsonAlpha Institute for Biotechnology

Career Start Year 1980

Number of shared co-authors 4

Francis S Collins

University of Michigan ann arbor

Career Start Year 1978

Number of shared co-authors 10

row(s) 1 - 30 of 30

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 14

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 13

Marten J??ger

Charite Universitatsmedizin Berlin

Co-authored papers 7

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 6

Ulrike Kr??ger

Berlin Institute of Health (BIH)

Co-authored papers 6

Jochen Hecht

The Barcelona Institute of Science and Technology

Co-authored papers 5

Melissa A Haendel

Co-authored papers 5

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 5

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

Max Schubach

Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin

Co-authored papers 4

Uwe Kornak

Institute of Human Genetics, University Medical Center Gottingen

Co-authored papers 4

Bj??rn Fischer-Zirnsak

Max Planck Institute for Molecular Genetics FG Development and Disease

Co-authored papers 4

Malte Spielmann

Max Planck Institute for Molecular Genetics

Co-authored papers 4

Anna-Lena Volckmar

Institut fur Pathologie, Universitatsklinikum Heidelberg

Co-authored papers 3

Volker Endris

Institute of Pathology, University Hospital Heidelberg

Co-authored papers 3

Nicole L Washington

Renaissance Computing Institute, University of North Carolina

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

Tudor Groza

Perth Children's Hospital

Co-authored papers 3

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Co-authored papers 3

Seishi Ogawa

Kyoto University

Co-authored papers 3

Albrecht Stenzinger

Institute of Pathology, University Hospital Heidelberg