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Hasan Tawamie

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
2017 · Miriam S. Reuter, Hasan Tawamie, et al. · JAMA Psychiatry · 243
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
2014 · Rebecca Buchert, Hasan Tawamie, et al. · The American Journal of Human Genetics · 132
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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
2019 · Stefano Volpi, Maria Pia Cicalese, et al. · Journal of Allergy and Clinical Immunology · 113
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
2013 · Lars Hansen, Hasan Tawamie, et al. · The American Journal of Human Genetics · 97
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TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
2015 · Louise A Stephen, Hasan Tawamie, et al. · eLife · 91
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
2014 · Yoshiko Murakami, Hasan Tawamie, et al. · PLoS Genetics · 84
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Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
2019 · Zafar Iqbal, Hasan Tawamie, et al. · Genetics in Medicine · 36
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Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly
2017 · Hasan Tawamie, Igor Martianov, et al. · The American Journal of Human Genetics · 34
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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
2016 · Rebecca Buchert, Addie I. Nesbitt, et al. · Orphanet Journal of Rare Diseases · 30
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Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation
2013 · Rebecca Buchert, Steffen Uebe, et al. · European Journal of Medical Genetics · 21
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities
2021 · Salem Alawbathani, Ana Westenberger, et al. · Clinical Genetics · 19
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Recurrent null mutation in SPG20 leads to Troyer syndrome
2015 · Hasan Tawamie, Eva Wohlleber, et al. · Molecular and Cellular Probes · 18
Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability
2014 · Lars Björn Riecken, Hasan Tawamie, et al. · Human Mutation · 18
Review on the role of hippocampus in autism spectrum disorder: Recent insights into neuropathology, genetics, and emerging therapeutic strategies
2025 · Poorna Manasa Bhamidimarri, Khalood Alhosani, et al. · Neurobiology of Disease · 10
Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child
2021 · Asmahan Abdalla, Mohammed Abdulrahman Alhassan, et al. · Endocrinology Diabetes and Metabolism Case Reports · 4
Author response for "Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities"
2021 · Alawbathani, Salem, Westenberger, Ana, et al. · 1
Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function
2026 · Yun-Han Huang, Kathya Arana, et al. · medRxiv
Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability
2018 · Hasan Tawamie · OPUS FAU (Kooperativer Bibliotheksverbund Berlin-Brandenburg (KOBV), on behalf of the Universitätsbibliothek Erlangen-Nürnberg)
Additional file 1: Table S1. of SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
2016 · Buchert, Rebecca, Nesbitt, Addie, et al. · Figshare
Recurrent Null Mutation in SPG20
2015 · Hasan Tawamie
Author response: TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
2015 · Louise A Stephen, Hasan Tawamie, et al.
humu22737-sup-0001-tableS1
2015 · Lars Björn Riecken, Hasan Tawamie, et al.
Works count: 27
Citation count: 951
H-index: 13
I10-index: 14
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