Aaina Kochhar, MBBS

Professional Titles

• Assistant Professor

Publications

• 2024 - Genetics and Dysmorphology chapter in Current Diagnosis and Treatment – Pediatrics 27th edition 
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders, PMID 37165955
• Identification of ECHS1 deficiency using plasma acylcarnitine analysis – ACMG2023
• Perceived Quality of Life(QOL) differences between teens with NF1 and their parents – CTF conference, NSGC .
• Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. PubMed PMID: 34089648
• Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Mol Genet Metab. 2021 Jul;133(3):231-241. PubMed PMID: 33985889
• Ravi, S., Kochhar, A., & Dhamija, R. . (2021). Telegenetics and COVID 19: Through the Pandemic and Beyond. Telehealth and Medicine Today, 6(4). https://doi.org/10.30953/tmt.v6.295
• 2023 - Genetics and Dysmorphology chapter in Current Diagnosis and Treatment – Pediatrics 27th edition ( in press ),

Practice Locations

Specialty Information

• Clinical Genetics and Genomics (MD), Board Certification
• Medical Biochemical Genetics, Board Certification