William Dobyns to Megalencephaly
This is a "connection" page, showing publications William Dobyns has written about Megalencephaly.
Connection Strength
4.366
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The Names of Things: The 2018 Bernard Sachs Lecture. Pediatr Neurol. 2021 09; 122:41-49.
Score: 0.801
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Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):582-590.
Score: 0.704
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.566
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The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. Am J Med Genet A. 2013 Aug; 161A(8):2115-6.
Score: 0.459
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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb; 158A(2):269-91.
Score: 0.415
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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Am J Med Genet A. 2021 09; 185(9):2719-2738.
Score: 0.199
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768.
Score: 0.166
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct 01; 140(10):2610-2622.
Score: 0.154
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 03; 99(5):1117-1129.
Score: 0.145
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 2015 Dec 03; 4.
Score: 0.136
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain. 2015 Jun; 138(Pt 6):1613-28.
Score: 0.129
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515.
Score: 0.121
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Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. Prenat Diagn. 2013 Oct; 33(10):1010-2.
Score: 0.115
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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet. 2013 May; 163C(2):122-30.
Score: 0.113
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40.
Score: 0.107
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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum". Hum Mutat. 2016 Mar; 37(3):242-5.
Score: 0.034