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Rfx6 Directs Islet Formation and Insulin Production in Mice and Humans
TLDR
It is shown that the transcription factor Rfx6 directs islet cell differentiation downstream of Neurog3, a unique position for RFX6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans. Expand
WDR62 is associated with the spindle pole and is mutated in human microcephaly
TLDR
In human and mouse embryonic brain, it was found that WDR62 expression was restricted to neural precursors undergoing mitosis, lending support to the hypothesis that the exquisite control of the cleavage furrow orientation in mammalian neural precursor cell mitosis is critical both in causing MCPH when perturbed and, when modulated, generating the evolutionarily enlarged human brain. Expand
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
TLDR
In conclusion, mutations in RASA1 underscore the specific CM–AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs, and the high incidence of fast‐flow lesions warrants careful clinical and radiologic examination, and regular follow‐up. Expand
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
TLDR
The data provide strong evidence for CASC5 as a novel MCPH gene, and underscore the role of kinetochore integrity in proper volumetric development of the human brain. Expand
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
TLDR
The clinical manifestations of LDS clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified, and the role of disturbed TGF‐β signaling in LDS pathogenesis is emphasized. Expand
Mutation of a potassium channel–related gene in progressive myoclonic epilepsy
TLDR
A large consanguineous Moroccan family with progressive myoclonic epilepsy consistent with autosomal recessive inheritance is investigated, to describe the phenotype and identify the causal gene. Expand
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
TLDR
It is concluded that biallelic null LTBP2 mutations cause the ocular phenotype in both families and could lead to Marfan-like features in older children, and it is suggested that intraocular pressures should be followed-up in young children with anOcular phenotype consisting of megalocornea, spherophakia and/or lens dislocation, and recommend LT BP2 gene analysis in these patients. Expand
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
TLDR
It is established that the probable Caenorhabditis elegans ortholog of UBE3B, oxi-1, functions in the ubiquitin/proteasome system in vivo and is especially required under oxidative stress conditions. Expand
Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion
TLDR
This study describes the largest series of patients reported to date, including 18 patients aged from 2 days to 67 years and comprising two familial cases, with a characteristic phenotype including mild to moderate intellectual disability, intrauterine and postnatal growth retardation. Expand
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
TLDR
It is concluded that UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability. Expand
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