William Dobyns to Neurodevelopmental Disorders
This is a "connection" page, showing publications William Dobyns has written about Neurodevelopmental Disorders.
Connection Strength
1.624
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022 10; 24(10):2065-2078.
Score: 0.214
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet. 2022 Oct; 59(10):965-975.
Score: 0.204
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961.
Score: 0.195
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DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 05; 23(5):888-899.
Score: 0.193
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021 05; 23(5):881-887.
Score: 0.192
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Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048.
Score: 0.185
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 2020 05 06; 106(3):404-420.e8.
Score: 0.180
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705.
Score: 0.174
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Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021 12; 185(12):3728-3739.
Score: 0.050
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017 Sep 01; 140(9):2322-2336.
Score: 0.038