Research & Clinical Summary
Dr. Doherty’s research interests focus on hindbrain malformations as a way to understand human brain development and common disorders such as intellectual disability, autism, ataxic cerebral palsy and even mental health disorders such as schizophrenia. The hindbrain regulates basic functions (level of consciousness, heart rate, respiratory rate), coordinates balance, limb and eye movements, as well as having possible roles in cognition and emotional regulation.
Interests: Genetic Disease, Genomics, Neurodevelopment & Neurodegeneration
The Doherty lab is not accepting students at this time.
Publications
The following publications were retrieved from PubMed:
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D’Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D,
“Healthcare recommendations for Joubert syndrome.”
American journal of medical genetics. Part A 182.1 (2020 Jan): 229-249.
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H, University of Washington Center for Mendelian Genomics., Bamshad MJ, Genomics England Research Consortium., Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D,
“Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.”
The Journal of clinical investigation 130.8 (2020 Aug 3): 4423-4439.
Vegas N, Low K, Mak CCY, Fung JLF, Hing AV, Chung BHY, Doherty D, Amiel J, Gordon CT,
“Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.”
Brain : a journal of neurology 144.2 (2021 Mar 3): e19.
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D,
“TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.”
HGG advances 2.1 (2021 Jan 14): .
Aldinger KA, Thomson Z, Phelps IG, Haldipur P, Deng M, Timms AE, Hirano M, Santpere G, Roco C, Rosenberg AB, Lorente-Galdos B, Gulden FO, O’Day D, Overman LM, Lisgo SN, Alexandre P, Sestan N, Doherty D, Dobyns WB, Seelig G, Glass IA, Millen KJ,
“Spatial and cell type transcriptional landscape of human cerebellar development.”
Nature neuroscience 24.8 (2021 Aug): 1163-1175.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS, University of Washington Center for Mendelian Genomics., King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE,
“Targeted long-read sequencing identifies missing disease-causing variation.”
American journal of human genetics 108.8 (2021 Aug 5): 1436-1449.
Tully HM, Doherty D, Wainwright M,
“Mortality in pediatric hydrocephalus.”
Developmental medicine and child neurology . (2021 Jul 15): .