Giridharan Appaswamy

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Christoph Klein, Magda Grudzien, Giridharan Appaswamy et al. · Nature Genetics · 2006 · 504 citations

Life Sciences, Genetics, Molecular Genetics +10

A Syndrome with Congenital Neutropenia and Mutations in<i>G6PC3</i>

Kaan Boztuǧ, Giridharan Appaswamy, Angel Ashikov et al. · New England Journal of Medicine · 2008 · 349 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The phenotype of human STK4 deficiency

Hengameh Abdollahpour, Giridharan Appaswamy, Daniel Kotlarz et al. · Blood · 2012 · 326 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Kaan Boztuǧ, Päivi M. Järvinen, Elisabeth Salzer et al. · Nature Genetics · 2014 · 142 citations

Life Sciences, Genetics, Molecular Genetics +13

<i>HAX1</i> mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI

Kaan Boztuǧ, Xiaoqi Ding, Hans Hartmann et al. · American Journal of Medical Genetics Part A · 2010 · 28 citations · Full text

Life Sciences, Genetics, Neurology +17