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A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. Mathew MT, et al. Among authors: mcbride kl. J Mol Diagn. 2022 Sep;24(9):1031-1040. doi: 10.1016/j.jmoldx.2022.06.001. Epub 2022 Jun 16. J Mol Diagn. 2022. PMID: 35718094 Free article.
Contactin 4 as an autism susceptibility locus.
Cottrell CE, Bir N, Varga E, Alvarez CE, Bouyain S, Zernzach R, Thrush DL, Evans J, Trimarchi M, Butter EM, Cunningham D, Gastier-Foster JM, McBride KL, Herman GE. Cottrell CE, et al. Among authors: mcbride kl. Autism Res. 2011 Jun;4(3):189-99. doi: 10.1002/aur.184. Epub 2011 Feb 9. Autism Res. 2011. PMID: 21308999 Free PMC article.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Melas M, et al. Among authors: mcbride kl. Hum Mutat. 2022 Feb;43(2):189-199. doi: 10.1002/humu.24304. Epub 2021 Dec 16. Hum Mutat. 2022. PMID: 34859533
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Ramadesikan S, et al. Among authors: mcbride kl. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091508 Free PMC article.
137 results