Hengameh Abdollahpour

The phenotype of human STK4 deficiency

Hengameh Abdollahpour, Giridharan Appaswamy, Daniel Kotlarz et al. · Blood · 2012 · 321 citations · Full text

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler et al. · Blood · 2008 · 139 citations · Full text

Dysfunction of <i><scp>SHANK2</scp></i> and <i><scp>CHRNA7</scp></i> in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

Bettina Chilian, Hengameh Abdollahpour, Tatjana Bierhals et al. · Clinical Genetics · 2013 · 95 citations

Neurogenomics, Genetics, Molecular Genetics +29

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Hengameh Abdollahpour, Malik Alawi, Fanny Kortüm et al. · European Journal of Human Genetics · 2014 · 52 citations · Full text

Down Syndrome, Ap-4 Deficiency Syndrome, Mendelian Disorder +7

Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency.

Alireza Fahimzad, Zahra Chavoshzadeh, Hengameh Abdollahpour et al. · PubMed · 2008 · 19 citations

Primary Immunodeficiency, Hax1 Deficiency, Persistent Severe Neutropenia +15