Email

nathan.achilly@bcm.edu

Positions

Medical Scientist Training Program (MD/PhD)

Baylor College of Medicine
Houston, TX, US

Education

BA from Franklin and Marshall College

05/2012 - Lancaster, PA

Neuroscience

Professional Interests

• Developmental Biology
• Mentor: Huda Zoghbi, M.D.

Selected Publications

• Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, et al. "Genetic mapping and exome sequencing identify variants associated with five novel diseases." PLoS ONE. 2012 January 17; 7 (1): e28936. Pubmed PMID: 22279524
• Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, et al. "An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1." Am J Hum Genet. 2013 September 5; 93 (3): 506-514. Pubmed PMID: 24011988
• Morlet T1, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, et al. "A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans." Laryngoscope. 2014 March ; 124 (3): E95–E103. Pubmed PMID: 23946138
• Quintana AM, Geiger EA, Achilly N, et al. "Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating MMACHC expression." Dev Biol. 2014 December 1; 396 : 94-106. Pubmed PMID: 25281006

Memberships

American Society of Human Genetics

American Academy of Neurology