Almuth Caliebe - Concepedia

Author

Almuth Caliebe

Also Known As

A Caliebe, A. Caliebe, Almut Caliebe, Almuth Caliebe, C. Brack, Caliebe A, Caliebe Almuth, Caliebe, Almuth, Nadja Bogdanova-Markov, Trinidad Caldés

121

Publications

4.9K

Citations

H-Index

107

Concepts

All Affiliations

University of Lübeck Christian-Albrechts-Universität zu Kiel University Hospital Schleswig-Holstein Essen University Hospital Friedrich-Alexander-Universität Erlangen-Nürnberg

About

Almuth Caliebe is an author at University of Lübeck specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	28	2.1K
2	Public Health	5	5	624
3	Social Sciences	3	3	310
4	Health Sciences	1	1	63
5	Natural Sciences	1	1	31

Almuth Caliebe

Publications

3.8K

Citations

H-Index

Page 1

	Year	Citations
Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman, Human Mutation Brca1 MutationsGenetic TestingGeneticsGenetic EpidemiologyMolecular Genetics	2018	298
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, Human Molecular Genetics	2013	227
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, The American Journal of Human Genetics	2012	213
Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy Anne-Karin Arndt, Sebastian Schäfer, Jörg‐Detlef Drenckhahn, The American Journal of Human Genetics CardiomyopathyGeneticsPathologyMolecular GeneticsDisease Gene Identification	2013	208
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes Julian Schubert, Aleksandra Siekierska, Mélanie Langlois, Nature Genetics Neurobiology Of DiseaseNeurological DisorderGenetic DisorderGeneticsPathogenesis	2014	195
Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency Sebastian Fuchs, Anne Rensing‐Ehl, Carsten Speckmann, The Journal of Immunology	2011	179
Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification Michael T. Parsons, Emma Tudini, Hongyan Li, Human Mutation GeneticsGenetic EpidemiologyPathologyMultifactorial Likelihood AnalysisDisease Gene Identification	2019	148
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães, Nature	2023	138
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, European Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsClinical GeneticsGenetic Epidemiology	2008	134
A specific mutation in the distant sonic hedgehog (<i>SHH</i>)<i>cis</i>-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb Dagmar Wieczorek, Barbara Pawlik, Yun Li, Human Mutation BiologyThumb HypoplasiaSpecific MutationDevelopmental BiologyMendelian Disorder	2009	128

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