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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1992 2
1993 14
1994 4
1995 3
1996 2
1997 1
1998 4
1999 7
2000 3
2001 10
2002 4
2003 7
2004 4
2005 2
2006 6
2007 4
2008 9
2009 13
2010 26
2011 17
2012 47
2013 46
2014 48
2015 48
2016 38
2017 50
2018 55
2019 61
2020 105
2021 125
2022 86
2023 108
2024 54

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877 results

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Page 1
Genetic variants for head size share genes and pathways with cancer.
Knol MJ, Poot RA, Evans TE, Satizabal CL, Mishra A, Sargurupremraj M, van der Auwera S, Duperron MG, Jian X, Hostettler IC, van Dam-Nolen DHK, Lamballais S, Pawlak MA, Lewis CE, Carrion-Castillo A, van Erp TGM, Reinbold CS, Shin J, Scholz M, Håberg AK, Kämpe A, Li GHY, Avinun R, Atkins JR, Hsu FC, Amod AR, Lam M, Tsuchida A, Teunissen MWA, Aygün N, Patel Y, Liang D, Beiser AS, Beyer F, Bis JC, Bos D, Bryan RN, Bülow R, Caspers S, Catheline G, Cecil CAM, Dalvie S, Dartigues JF, DeCarli C, Enlund-Cerullo M, Ford JM, Franke B, Freedman BI, Friedrich N, Green MJ, Haworth S, Helmer C, Hoffmann P, Homuth G, Ikram MK, Jack CR Jr, Jahanshad N, Jockwitz C, Kamatani Y, Knodt AR, Li S, Lim K, Longstreth WT, Macciardi F; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium; Mäkitie O, Mazoyer B, Medland SE, Miyamoto S, Moebus S, Mosley TH, Muetzel R, Mühleisen TW, Nagata M, Nakahara S, Palmer ND, Pausova Z, Preda A, Quidé Y, Reay WR, Roshchupkin GV, Schmidt R, Schreiner PJ, Setoh K, Shapland CY, Sidney S, St Pourcain B, Stein JL, Tabara Y, Teumer A, Uhlmann A, van der Lugt A, Vernooij MW, We… See abstract for full author list ➔ Knol MJ, et al. Among authors: houlden h. Cell Rep Med. 2024 May 3:101529. doi: 10.1016/j.xcrm.2024.101529. Online ahead of print. Cell Rep Med. 2024. PMID: 38703765 Free article.
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marín-Lahoz J, Kulisevsky J, Torres S, Mir P, Periñán MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sánchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chiò A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW. Chia R, et al. Among authors: houlden h. Neuron. 2024 Apr 24:S0896-6273(24)00240-X. doi: 10.1016/j.neuron.2024.04.002. Online ahead of print. Neuron. 2024. PMID: 38701790 Free article.
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, van der Vliet PJ, Kretkiewicz MM, Macken WL, Efthymiou S, Dominik N, Morrow JM, Bhatia R, Wilson LA, Houlden H, Hanna MG, Bugiardini E, van der Maarel SM, Srivastava MVP. Vishnu VY, et al. Among authors: houlden h. Eur J Hum Genet. 2024 Apr 25. doi: 10.1038/s41431-024-01577-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38664571
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, Efthymiou S, Murphy D, Uva P, Verrotti A, Fiorillo C, Delvecchio M, Accogli A, Elsabbagh M, Houlden H, Scherer SW, Striano P, Zara F, Chou TF, Salpietro V. Iacomino M, et al. Among authors: houlden h. Front Mol Neurosci. 2024 Apr 8;17:1268013. doi: 10.3389/fnmol.2024.1268013. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38650658 Free PMC article.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: houlden h. Mov Disord. 2024 Apr 6. doi: 10.1002/mds.29754. Online ahead of print. Mov Disord. 2024. PMID: 38581205
An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.
Muthinja MJ, Guelngar CO, Fall M, Jama F, Shuja HA, Nambafu J, Massi DG, Ojo OO, Okubadejo NU, Taiwo FT, Diop AM, de Chacus CJDG, Cissé FA, Cissé A, Hooker J, Sokhi D, Houlden H, Rizig M. Muthinja MJ, et al. Among authors: houlden h. Ann Hum Genet. 2024 Apr 2. doi: 10.1111/ahg.12557. Online ahead of print. Ann Hum Genet. 2024. PMID: 38563088
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: houlden h. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, Roze E, Vidailhet M, Aasly J, Gan Or Z, Yu E, Dauvilliers Y, Zimprich A, Tomantschger V, Pirker W, Álvarez I, Pastor P, Di Fonzo A, Bhatia KP, Magrinelli F, Houlden H, Real R, Quattrone A, Limousin P, Korlipara P, Foltynie T, Grosset D, Williams N, Narendra D, Lin HP, Jovanovic C, Svetel M, Lynch T, Gallagher A, Vandenberghe W, Gasser T, Brockmann K, Morris HR, Borsche M, Klein C, Corti O, Brice A, Lesage S, Corvol JC; French Parkinson disease Genetics Study Group (PDG). Menon PJ, et al. Among authors: houlden h. NPJ Parkinsons Dis. 2024 Mar 29;10(1):72. doi: 10.1038/s41531-024-00677-3. NPJ Parkinsons Dis. 2024. PMID: 38553467 Free PMC article.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: houlden h. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
877 results