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

Year Number of Results
1959 1
1972 1
1982 1
1983 2
1986 2
1988 1
1989 2
1990 3
1991 1
1992 2
1993 2
1994 6
1995 9
1996 4
1997 2
1998 3
1999 1
2000 2
2001 5
2002 3
2003 1
2004 3
2005 2
2006 1
2007 4
2008 6
2009 5
2010 8
2011 9
2012 9
2013 6
2014 6
2015 12
2016 9
2017 6
2018 3
2019 4
2020 1
2021 1
2022 6
2023 4
2024 0

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139 results

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Page 1
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA. Pérez-Dueñas B, et al. Among authors: cobben j. Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Mov Disord. 2022. PMID: 36054588 Free PMC article.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics; Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Guo H, et al. Among authors: cobben j. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8. Nat Commun. 2019. PMID: 31616000 Free PMC article.
CLOVES Syndrome.
Kanji A, Cobben J, Laguda B. Kanji A, et al. Among authors: cobben j. JAMA Dermatol. 2023 Jun 1;159(6):659-660. doi: 10.1001/jamadermatol.2022.6180. JAMA Dermatol. 2023. PMID: 37017999
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. Meuwissen ME, et al. Among authors: cobben jm. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.
Pectus excavatum and carinatum.
Cobben JM, Oostra RJ, van Dijk FS. Cobben JM, et al. Eur J Med Genet. 2014 Aug;57(8):414-7. doi: 10.1016/j.ejmg.2014.04.017. Epub 2014 May 10. Eur J Med Genet. 2014. PMID: 24821303 Review.
Sedaghatian spondylometaphyseal dysplasia in two siblings.
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG. Peshimam N, et al. Among authors: cobben j. Eur J Med Genet. 2022 Aug;65(8):104541. doi: 10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16. Eur J Med Genet. 2022. PMID: 35718083 Free article.
SHORT syndrome with microcephaly and developmental delay.
Patel V, Cui W, Cobben JM. Patel V, et al. Among authors: cobben jm. Am J Med Genet A. 2023 Mar;191(3):850-854. doi: 10.1002/ajmg.a.63078. Epub 2022 Dec 14. Am J Med Genet A. 2023. PMID: 36515361 Review.
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM. Van Dijk FS, et al. Among authors: cobben jm. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878741 Review.
Compound-heterozygous Marfan syndrome.
Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. Van Dijk FS, et al. Among authors: cobben jm. Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27. Eur J Med Genet. 2009. PMID: 19059503
The EEC syndrome: a literature study.
Roelfsema NM, Cobben JM. Roelfsema NM, et al. Among authors: cobben jm. Clin Dysmorphol. 1996 Apr;5(2):115-27. doi: 10.1097/00019605-199604000-00003. Clin Dysmorphol. 1996. PMID: 8723561 Review.
139 results