Congenital neutropenia and cyclic neutropenia are disorders of neutrophil production
predisposing patients to recurrent bacterial infections. Recently the locus for autosomal dominant …

Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed
imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple …

Human cyclic haematopoiesis (cyclic neutropenia, MIM 162800) is an autosomal dominant
disease in which blood-cell production from the bone marrow oscillates with 21-day …

Mice lacking the transcriptional repressor oncoprotein Gfi1 are unexpectedly neutropenic 1 ,
2 . We therefore screened GFI1 as a candidate for association with neutropenia in affected …

Prader–Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia
and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It …

Mutations in ELA2, the gene encoding neutrophil elastase (NE), cause the human diseases
cyclic neutropenia (CN) and severe congenital neutropenia (SCN). Numerous mutations are …

Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

… in newly identified disease genes and future re-analysis of existing genomic data. … Diagnostic
exome sequencing in persons with severe intellectual disability. N Engl J … Person PhD …

… We thank Dr Hui Zheng and her lab people for extremely valuable technical assistance and
generous sharing of reagents and equipment. We thank Dr Richard C. Atkinson and Baylor …

… 1), (iii) a TMD formed by hydrophobic membrane-spanning helices M1, M3 and M4 and the
M2 helix and re-entrant loop, and (iv) a carboxy-terminal (CTD) intracellular region involved …