Concepedia

Holger Thiele

HT

38

Publications

2.5K

Citations

24

H-Index

1995

Active since

Affiliations

University of Cologne(Current)

Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases

University Hospital Cologne

Max Delbrück Center

Innsbruck Medical University

Holger Thiele is an author at University of Cologne specializing in medicine, pathology, and genetics.

Top concepts

MedicinePathologyGeneticsDevelopmental BiologyPathogenesisMolecular GeneticsGenomicsSequencingPublic HealthGenetic Epidemiology

Publications per year

1995–2024

38

Publications

38

HaploPainter: a tool for drawing pedigrees with complex haplotypes

Holger Thiele, Peter Nürnberg · Computer applications in the biosciences · 2004 · 274 citations · Full text

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 227 citations · Full text

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann et al. · The American Journal of Human Genetics · 2012 · 171 citations · Full text

Developmental Biology, Genetic Disorder, Autophagy +8

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Katja‐Martina Eckl, Rotem Tidhar, Holger Thiele et al. · Journal of Investigative Dermatology · 2013 · 163 citations · Full text

Skin Development, Developmental Biology, Pathology +3

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Joanne Ng, Juan Zhen, Esther Meyer et al. · Brain · 2014 · 159 citations · Full text

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