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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: opitz jm. 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.
Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.
Opitz JM, Putnam AR, Comstock JM, Chin S, Byrne JL, Kennedy A, Frikke MJ, Bernard C, Albrecht S, Der Kaloustian V, Szakacs JG. Opitz JM, et al. Fetal Pediatr Pathol. 2006 Jul-Aug;25(4):211-31. doi: 10.1080/15513810601015753. Fetal Pediatr Pathol. 2006. PMID: 17162528 Review.
The FG syndrome from a pathological perspective.
Neri C, Moser K, Pysher TJ, Boettger DR, Neri G, Opitz JM. Neri C, et al. Among authors: opitz jm. Fetal Pediatr Pathol. 2011;30(2):71-6. doi: 10.3109/15513815.2011.520259. Fetal Pediatr Pathol. 2011. PMID: 21391746
2011 William Allan Award: development and evolution.
Opitz JM. Opitz JM. Am J Hum Genet. 2012 Mar 9;90(3):392-404. doi: 10.1016/j.ajhg.2011.12.025. Am J Hum Genet. 2012. PMID: 22405084 Free PMC article. No abstract available.
476 results