Hasan Tawamie - Concepedia

Author

Hasan Tawamie

Friedrich-Alexander-Universität Erlangen-Nürnberg

Also Known As

Hasan Tawamie, Tawamie, Hasan

Publications

938

Citations

H-Index

Concepts

All Affiliations

Friedrich-Alexander-Universität Erlangen-Nürnberg University of Bonn Centogene (Germany)Leipzig University Life & Brain (Germany)

About

Hasan Tawamie is an author at Friedrich-Alexander-Universität Erlangen-Nürnberg specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	435
2	Natural Sciences	1	1	84
3	Social Sciences	1	1	21
4	Cell Biology	1	1	21
5	Molecular Biology	1	1	84

Hasan Tawamie

Publications

786

Citations

H-Index

Page 1

	Year	Citations
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert, JAMA Psychiatry	2017	239
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency Rebecca Buchert, Hasan Tawamie, Christopher Smith, The American Journal of Human Genetics Metabolic SyndromeCataracts DueMetabolic DisorderOphthalmologyGenetic Disorder	2014	127
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability Lars Hestbjerg Hansen, Hasan Tawamie, Yoshiko Murakami, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	2013	97
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) Louise A. Stephen, Hasan Tawamie, Gemma M. Davis, eLife	2015	92
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, PLoS Genetics GeneticsMolecular BiologyGene CharacterizationMolecular GeneticsDisease Gene Identification	2014	84
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly Hasan Tawamie, Igor Martianov, Natalie Wohlfahrt, The American Journal of Human Genetics Genetic DisorderGeneticsHypomorphic Pathogenic VariantsPathologyMolecular Genetics	2017	34
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia Zafar Iqbal, Hasan Tawamie, Wei Ba, Genetics in Medicine Recessive Intellectual DisabilityNeurological DisorderGenetic DisorderGeneticsFragile X Spectrum	2019	34
Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability Lars Björn Riecken, Hasan Tawamie, Carsten Dornblut, Human Mutation Neurological DisorderProfound Intellectual DisabilityDisease Gene IdentificationEpigeneticsSocial Sciences	2014	21
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation Rebecca Buchert, Steffen Uebe, Farah Radwan, European Journal of Medical Genetics Neurodegenerative DiseasesSystems BiologyMendelian DisorderGenetic DisorderGenetics	2013	20
Biallelic <scp> <i>ZNFX1</i> </scp> variants are associated with a spectrum of immuno‐hematological abnormalities Salem Alawbathani, Ana Westenberger, Natalia Ordonez‐Herrera, Clinical Genetics	2021	20

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