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Year Number of Results
1973 1
1977 1
2010 1
2011 3
2012 3
2013 4
2014 1
2017 2
2018 1
2019 1
2022 1
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2024 2
2025 0

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18 results

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Page 1
TREM2 variants in Alzheimer's disease.
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. Guerreiro R, et al. N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150934 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: 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 Free PMC article.
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.
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 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.
Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.
Chang-Wolf JM, Kinzy TG, Driessen SJ, Cruz LA, Iyengar SK, Peachey NS, Aung T, Khor CC, Williams SE, Ramsay M, Olawoye O, Ashaye A, Klaver CCW, Hauser MA, Thiadens AAHJ, Cooke Bailey JN, Bonnemaijer PWM; Genetics in Glaucoma Patients of African Descent (GIGA) Study GroupGenetics of Glaucoma in People of African Descent (GGLAD) Study GroupMillion Veteran Program (MVP). Chang-Wolf JM, et al. JAMA Ophthalmol. 2024 Nov 14:e244784. doi: 10.1001/jamaophthalmol.2024.4784. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39541127
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Hammer MB, et al. Am J Hum Genet. 2013 Feb 7;92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332917 Free PMC article.
18 results