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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Rope AF, et al. Among authors: jorde lb. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700266 Free PMC article.
Complex segregation analysis of autism.
Jorde LB, Hasstedt SJ, Ritvo ER, Mason-Brothers A, Freeman BJ, Pingree C, McMahon WM, Petersen B, Jenson WR, Mo A. Jorde LB, et al. Am J Hum Genet. 1991 Nov;49(5):932-8. Am J Hum Genet. 1991. PMID: 1928098 Free PMC article.
A gene for ulnar-mammary syndrome maps to 12q23-q24.1.
Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB. Bamshad M, et al. Among authors: jorde lb. Hum Mol Genet. 1995 Oct;4(10):1973-7. doi: 10.1093/hmg/4.10.1973. Hum Mol Genet. 1995. PMID: 8595424
Distal arthrogryposis type 1: clinical analysis of a large kindred.
Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Bamshad M, et al. Among authors: jorde lb. Am J Med Genet. 1996 Nov 11;65(4):282-5. doi: 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8923936
268 results