William Dobyns to Genes, Recessive
This is a "connection" page, showing publications William Dobyns has written about Genes, Recessive.
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1.046
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Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol. 1999 Oct; 14(10):660-6; discussion 669-72.
Score: 0.177
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 05; 101(4):552-563.
Score: 0.154
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May; 22(5):587-93.
Score: 0.117
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Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug; 135(Pt 8):2416-27.
Score: 0.108
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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet A. 2011 Dec; 155A(12):3035-41.
Score: 0.102
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Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb; 32(2):195-210.
Score: 0.085
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 01; 143A(9):939-44.
Score: 0.075
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The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl. 2006 Apr; 95(451):11-5.
Score: 0.069
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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: 0.036
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May; 45(5):556-62.
Score: 0.028
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RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet. 2012 Sep 07; 91(3):533-40.
Score: 0.027
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WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet. 2010 Nov; 42(11):1010-4.
Score: 0.024
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The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2009 Apr; 46(4):249-53.
Score: 0.021
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200.
Score: 0.015
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Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996 Oct; 38(7):684-7.
Score: 0.009