Amelia Kirby, MD
- Clinical Associate Professor, Pediatrics
Amelia Kirby, MD
- Education
- MD, Medical College of Wisconsin, 2009
- Residency
- Pediatrics, Baylor College of Medicine, 2014
- Board Certifications
- American Board of Medical Genetics and Genomics, Clinical Genetics
- American Board of Medical Genetics and Genomics
- Memberships
- American Academy of Pediatrics
- Positions
- Clinical Associate Professor, Pediatrics
- Departments and Affiliations
- Pediatrics
Research
- Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR, Karczewski KJ, Morales J, Gallone G, Balasubramanian M, Banka S, Gompertz L, Kerr B, Kirby A, Lynch SA, Morton JEV, Pinz H, Sansbury FH, Stewart H, Zuccarelli BD, Cook SA, Taylor JC, Juusola J, Retterer K, Firth HV, Hurles ME, Lara-Pezzi E, Barton PJR, Whiffin N. Am J Hum Genet. 2021 Jun; 108(6):1083-1094.
- Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Am J Hum Genet. 2021 Jun; 108(6):1138-1150.
- Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation in the United States. Navalkele P, Guzman M, Kirby A, Pinz H, Kemp J. J Neuropathol Exp Neurol. 2020 11; 79(11):1250-1252.
- To operate or not to operate? Assessing NSQIP surgical outcomes in trisomy 18 patients. Bajinting A, Munoz-Abraham AS, Osei H, Kirby AJ, Greenspon J, Villalona GA. J Pediatr Surg. 2021 Mar; 56(3):565-568.
- Chromosome 1q23.3q31.1 deletion associated with decreased newborn screening of T cell receptor rearrangement circles (TRECs). Lee JS, Becker BA, Kirby A, Knutsen AP. Ann. Allergy Asthma Immunol. 2018 07; 121(1):125-126.