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Liam C. McIntyre
Liam C. McIntyre
Boston Children's Hospital
Mutation
Androgen insensitivity syndrome
Testis determining factor
DNA sequencing
Gonadal dysgenesis
2
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6
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0
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Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome
2016
BMC Endocrine Disorders
Sunita M. C. De Sousa
Karin S. Kassahn
Liam C. McIntyre
Chan-Eng Chong
Hamish S. Scott
David J. Torpy
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Citations (4)
Presentation of m.3243A>G (MT-TL1; tRNALeu) Variant With Focal Neurology in Infancy
2015
American Journal of Medical Genetics Part A
Dylan Mordaunt
Liam C. McIntyre
Hayley Salvemini
Afdal Ibrahim
Drago Bratkovic
David Ketteridge
Hamish S. Scott
Karin S. Kassahn
Nick M. Smith
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Citations (2)
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