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

Year Number of Results
1964 1
1966 1
1977 1
1978 1
1979 1
1981 2
1982 3
1983 4
1985 1
1986 1
1988 3
1989 3
1990 8
1991 2
1992 6
1993 5
1994 4
1995 7
1996 4
1997 3
1998 1
1999 7
2000 2
2001 7
2002 8
2003 2
2004 1
2005 4
2006 10
2007 8
2008 6
2009 6
2010 8
2011 20
2012 14
2013 25
2014 17
2015 20
2016 17
2017 23
2018 18
2019 18
2020 18
2021 39
2022 40
2023 34
2024 29
2025 1

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416 results

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: winkelmann j. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R, Takahashi A, Ripke S, Lee JC, Jostins L, Shah T, Abedian S, Cheon JH, Cho J, Dayani NE, Franke L, Fuyuno Y, Hart A, Juyal RC, Juyal G, Kim WH, Morris AP, Poustchi H, Newman WG, Midha V, Orchard TR, Vahedi H, Sood A, Sung JY, Malekzadeh R, Westra HJ, Yamazaki K, Yang SK; International Multiple Sclerosis Genetics Consortium; International IBD Genetics Consortium; Barrett JC, Alizadeh BZ, Parkes M, Bk T, Daly MJ, Kubo M, Anderson CA, Weersma RK. Liu JZ, et al. Nat Genet. 2015 Sep;47(9):979-986. doi: 10.1038/ng.3359. Epub 2015 Jul 20. Nat Genet. 2015. PMID: 26192919 Free PMC article.
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H; International IBD Genetics Consortium (IIBDGC); Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A… See abstract for full author list ➔ Jostins L, et al. Among authors: winkelmann j. Nature. 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582. Nature. 2012. PMID: 23128233 Free PMC article.
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Pl… See abstract for full author list ➔ Zech M, et al. Among authors: winkelmann j. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
Comorbidities, treatment, and pathophysiology in restless legs syndrome.
Trenkwalder C, Allen R, Högl B, Clemens S, Patton S, Schormair B, Winkelmann J. Trenkwalder C, et al. Among authors: winkelmann j. Lancet Neurol. 2018 Nov;17(11):994-1005. doi: 10.1016/S1474-4422(18)30311-9. Epub 2018 Sep 21. Lancet Neurol. 2018. PMID: 30244828 Review.
Biological and clinical insights from genetics of insomnia symptoms.
Lane JM, Jones SE, Dashti HS, Wood AR, Aragam KG, van Hees VT, Strand LB, Winsvold BS, Wang H, Bowden J, Song Y, Patel K, Anderson SG, Beaumont RN, Bechtold DA, Cade BE, Haas M, Kathiresan S, Little MA, Luik AI, Loudon AS, Purcell S, Richmond RC, Scheer FAJL, Schormair B, Tyrrell J, Winkelman JW, Winkelmann J; HUNT All In Sleep; Hveem K, Zhao C, Nielsen JB, Willer CJ, Redline S, Spiegelhalder K, Kyle SD, Ray DW, Zwart JA, Brumpton B, Frayling TM, Lawlor DA, Rutter MK, Weedon MN, Saxena R. Lane JM, et al. Among authors: winkelmann j. Nat Genet. 2019 Mar;51(3):387-393. doi: 10.1038/s41588-019-0361-7. Epub 2019 Feb 25. Nat Genet. 2019. PMID: 30804566 Free PMC article.
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. Brunet T, et al. Among authors: winkelmann j. Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1. Clin Genet. 2021. PMID: 33619735
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: winkelmann j. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077 PMID: 37398376 Free PMC article. Updated. Preprint.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. Smallwood K, et al. Among authors: winkelmann j. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. Am J Hum Genet. 2023. PMID: 37075751 Free PMC article.
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Huang YS; FinnGen; Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Högl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ. Ollila HM, et al. Among authors: winkelmann j. Nat Commun. 2023 May 15;14(1):2709. doi: 10.1038/s41467-023-36120-z. Nat Commun. 2023. PMID: 37188663 Free PMC article.
416 results