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Page 1
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: hammer mb. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. Wigby K, et al. Am J Med Genet A. 2023 Apr;191(4):930-940. doi: 10.1002/ajmg.a.63097. Epub 2023 Jan 18. Am J Med Genet A. 2023. PMID: 36651673
Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort.
Barr PB, Bigdeli TB, Meyers JL, Peterson RE, Sanchez-Roige S, Mallard TT, Dick DM, Harden KP, Wilkinson A, Graham DP, Nielsen DA, Swann AC, Lipsky RK, Kosten TR, Aslan M, Harvey PD, Kimbrel NA, Beckham JC; Million Veteran Program (MVP)Cooperative Studies Program (CSP) #572. Barr PB, et al. JAMA Psychiatry. 2024 Feb 1;81(2):188-197. doi: 10.1001/jamapsychiatry.2023.4141. JAMA Psychiatry. 2024. PMID: 37938835
Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System.
Bigdeli TB, Voloudakis G, Barr PB, Gorman BR, Genovese G, Peterson RE, Burstein DE, Velicu VI, Li Y, Gupta R, Mattheisen M, Tomasi S, Rajeevan N, Sayward F, Radhakrishnan K, Natarajan S, Malhotra AK, Shi Y, Zhao H, Kosten TR, Concato J, O'Leary TJ, Przygodzki R, Gleason T, Pyarajan S, Brophy M, Huang GD, Muralidhar S, Gaziano JM, Aslan M, Fanous AH, Harvey PD, Roussos P; Cooperative Studies Program (CSP) #572 and Million Veteran Program (MVP). Bigdeli TB, et al. JAMA Psychiatry. 2022 Sep 14;79(11):1092-101. doi: 10.1001/jamapsychiatry.2022.2742. Online ahead of print. JAMA Psychiatry. 2022. PMID: 36103194 Free PMC article.
Common Premutations in the General Population.
Hammer MB, Singleton AB. Hammer MB, et al. JAMA Neurol. 2019 Jun 1;76(6):639-640. doi: 10.1001/jamaneurol.2019.0216. JAMA Neurol. 2019. PMID: 30933218 No abstract available.
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: hammer mb. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB. Hammer MB, et al. Neurodegener Dis. 2017;17(4-5):208-212. doi: 10.1159/000464445. Epub 2017 May 31. Neurodegener Dis. 2017. PMID: 28558379 Free PMC article.
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.
Capozzo R, Sassi C, Hammer MB, Arcuti S, Zecca C, Barulli MR, Tortelli R, Gibbs JR, Crews C, Seripa D, Carnicella F, Dell'Aquila C, Rossi M, Tamma F, Valluzzi F, Brancasi B, Panza F, Singleton AB, Logroscino G. Capozzo R, et al. Among authors: hammer mb. Alzheimers Dement. 2017 Aug;13(8):858-869. doi: 10.1016/j.jalz.2017.01.011. Epub 2017 Mar 3. Alzheimers Dement. 2017. PMID: 28264768 Free PMC article.
19 results