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Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Chantal Lagresle‐Peyrou, Emmanuelle Six, Capucine Pïcard, Frédéric Rieux‐Laucat, Vincent Michel, Andrea Ditadi, Corinne Demerens, Estelle Morillon, Françoise Valensi, Karen L. Simon-Stoos,

Nature Genetics · 2008 · 238 citations · 20 references

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20

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

Eric S. Lander, David Botstein · Science · 1987 · 886 citations

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Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99

Corinne Antoine, Susanna Müller, Andrew J. Cant et al. · The Lancet · 2003 · 574 citations

, , +16

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

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

, , +10

Specific Ablation of the Apoptotic Functions of Cytochrome c Reveals a Differential Requirement for Cytochrome c and Apaf-1 in Apoptosis

Zhenyue Hao, Gordon S. Duncan, Chia‐Che Chang et al. · Cell · 2005 · 278 citations · Full text

, , +17

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

Jyh-Rong Chao, Evan Parganas, Kelli L. Boyd et al. · Nature · 2008 · 253 citations

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