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Rfx6 Directs Islet Formation and Insulin Production in Mice and Humans
Insulin from the β-cells of the pancreatic islets of Langerhans controls energy homeostasis in vertebrates, and its deficiency causes diabetes mellitus. During embryonic development, theExpand
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Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8;Expand
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Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an importantExpand
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  • Open Access
Protein-truncating mutations in ASPM cause variable reduction in brain size.
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normalExpand
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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
Background Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reportedExpand
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Mutation of a potassium channel–related gene in progressive myoclonic epilepsy
We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causalExpand
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Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones, and the TPO defects are believed to be the most prevalent causes of the inborn errors of thyroid metabolism. WeExpand
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The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue. We report mutations in theExpand
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New-Onset Diabetes After Renal Transplantation
New-onset diabetes after transplantation (NODAT) is a serious and frequent metabolic complication after renal transplantation. This entity is currently well defined since the publication of theExpand
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Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.
Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in mostExpand
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