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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Among authors: nelson sf. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL. Fisher SE, et al. Among authors: nelson sf. Am J Hum Genet. 2002 May;70(5):1183-96. doi: 10.1086/340112. Epub 2002 Mar 28. Am J Hum Genet. 2002. PMID: 11923911 Free PMC article.
Evidence for sex-specific risk alleles in autism spectrum disorder.
Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. Stone JL, et al. Among authors: nelson sf. Am J Hum Genet. 2004 Dec;75(6):1117-23. doi: 10.1086/426034. Epub 2004 Oct 5. Am J Hum Genet. 2004. PMID: 15467983 Free PMC article.
384 results