Susceptibility genes in breast cancer: more is less?

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman et al. (2007)
Nature Genetics 39: 165–167
A common coding variant in CASP8 is associated with breast cancer risk
Cox et al. (2007)
Nature Genetics 39: 352–358
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
Hunter et al. (2007)
Nature Genetics 39: 870–874
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton et al. (2007)
Nature 447: 1087–1093
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer
Stacey et al. (2007)
Nature Genetics 39: 865–869     

Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia

tRNA splicing endoluclease mutations cause pontocerebellar hypoplasia.
Budde BS et al.. (2008)
Nature Genetics 40: 1113–1118.     

Seckel syndrome: when developmental pathways determining brain and body size go wrong

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
Griffith et al. (2008)
Nature Genetics 40: 232–236     

PCSK1 variants: genetic risk factors for obesity

Common nonsynonymous variants in PCSK1 confer risk of obesity
Benzinou et al. (2008)
Nature Genetics 40: 943–945     

The genetics of brachyolmia: between cilia and cell volume regulation

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Rock et al. (2008)
Nature Genetics 40 (8): 999–1003     

ZFP57 mutations cause an autosomal recessive imprinting disorder

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
Mackay et al. (2008)
Nature Genetics 40: 949–951     

Genetic causes of chronic pancreatitis: the elucidation of genetic contributions to a disorder once thought to have none

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
Jonas Rosendahl et al. (2008)
Nature Genetics 40: 78–82     

A short-lived mRNA linked to blindness

Age-related macular degeneration is associated with an unstable ARMS2 ( LOC387715 ) mRNA
Fritsche et al. (2008)
Nature Genetics 40 (7): 892–896     

Digital clubbing: finally, a gene

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Uppal et al. (2008)
Nature Genetics 40 (6): 789–793     

Cilia get serious: Meckel–Gruber and Bardet–Biedl syndromes represent a spectrum of allelic disorders

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Leitch et al. (2008)
Nature Genetics 40: 443–448     

An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Najm J et al.. (2008)
Nature Genetics 40: 1065–1067.     

LRTOMT: a new tone in understanding the symphony of non-syndromic deafness

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Ahmed et al. (2008)
Nature Genetics 40: 1335–1340.     

Sugar coats on proteins, not always as sweet as they sound!

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2
Kornak et al . (2008)
Nature Genetics 40: 32–34     

CASK: a scaffold protein involved in X-linked brain malformation phenotypes

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Najm et al. (2008)
Nature Genetics 40: 1065–1067     

A new STAR on the horizon

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Unger et al. (2008)
Nature Genetics 40: 287–289     

Genetics of Noonan syndrome – a new gene, and the search is still on

Germline gain-of-function mutations in SOS1 cause Noonan syndrome
Roberts et al. (2007)
Nature Genetics 39: 70–74
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Tartaglia et al. (2007)
Nature Genetics 39: 75–79     

RPGRIP1: a novel ciliary gene involved in cerebellar disorders

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Delous et al. (2007)
Nature Genetics 39: 875–881
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin interactor, cause Joubert syndrome
Arts et al. (2007)
Nature Genetics 39: 882–888     

Insights into the genetics of severe congenital neutropenia

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Klein et al. (2007)
Nature Genetics 39: 86–92     

SORL1 adds another piece to the complex puzzle of Alzheimer disease genetics

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Rogaeva et al. (2007)
Nature Genetics 39: 168–177