• Publications
  • Influence
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
  • J. Ming, M. Muenke
  • Biology, Medicine
  • American journal of human genetics
  • 1 November 2002
Multiple genetic and environmental factors likely play a role in the phenotypic expression of many Mendelian disorders. Understanding the biologic role of the genes associated with human disease mayExpand
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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
Diminished Sonic Hedgehog (Shh) signaling is associated with the most common forebrain defect in humans, holoprosencephaly (HPE), which includes cyclopia, a phenotype also seen in mice and otherExpand
  • 311
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  • Open Access
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
BackgroundInterstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 MbExpand
  • 195
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The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previouslyExpand
  • 308
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  • Open Access
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients withExpand
  • 392
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability.Expand
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  • Open Access
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. The genetic causesExpand
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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
Abstract. Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. TheExpand
  • 144
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SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
Solitary median maxillary central incisor (SMMCI) or single central incisor is a rare dental anomaly. It has been reported in holoprosencephaly (HPE) cases with severe facial anomalies or as aExpand
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Human developmental disorders and the Sonic hedgehog pathway.
Sonic hedgehog (Shh) is a morphogen that is crucial for normal development of a variety of organ systems, including the brain and spinal cord, the eye, craniofacial structures, and the limbs.Expand
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