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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: pysher tj. 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.
Invited editorial comment: further reflections on gastroschisis.
Opitz JM, Pysher TJ. Opitz JM, et al. Among authors: pysher tj. Am J Med Genet C Semin Med Genet. 2008 Aug 15;148C(3):192-8. doi: 10.1002/ajmg.c.30177. Am J Med Genet C Semin Med Genet. 2008. PMID: 18655101 No abstract available.
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: pysher tj. Fetal Pediatr Pathol. 2011;30(2):71-6. doi: 10.3109/15513815.2011.520259. Fetal Pediatr Pathol. 2011. PMID: 21391746
Aprosencephaly and cerebellar dysgenesis in sibs.
Florell SR, Townsend JJ, Klatt EC, Pysher TJ, Coffin CM, Wittwer CT, Viskochil DH. Florell SR, et al. Among authors: pysher tj. Am J Med Genet. 1996 Jun 28;63(4):542-8. doi: 10.1002/(SICI)1096-8628(19960628)63:4<542::AID-AJMG6>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826432 Review.
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R. Brunelli L, et al. Among authors: pysher tj. Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13. Mol Genet Genomic Med. 2019. PMID: 31192527 Free PMC article.
91 results