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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: holt jm. Genet Med. 2024 Sep;26(9):101166. doi: 10.1016/j.gim.2024.101166. Epub 2024 May 17. Genet Med. 2024. PMID: 38767059
VarSight: prioritizing clinically reported variants with binary classification algorithms.
Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network; Worthey EA. Holt JM, et al. BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8. BMC Bioinformatics. 2019. PMID: 31615419 Free PMC article.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: holt jm. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744 Free PMC article.
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN, McKinley EC, Cochran M, Amaral MD, Moyers BA, Lasseigne BN, Gray DE, Lawlor JMJ, Prokop JW, Geier EG, Holt JM, Thompson ML, Newberry JS, Yokoyama JS, Worthey EA, Geldmacher DS, Love MN, Cooper GM, Myers RM, Roberson ED. Cochran JN, et al. Among authors: holt jm. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003491. doi: 10.1101/mcs.a003491. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836585 Free PMC article.
121 results