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

Year Number of Results
1957 2
1968 1
1979 1
1983 1
1984 1
1986 1
1991 1
1992 1
1997 1
1998 1
2000 1
2001 5
2002 4
2003 4
2004 2
2005 4
2006 5
2007 5
2008 6
2009 4
2010 5
2011 4
2012 4
2013 5
2014 8
2015 6
2016 4
2017 6
2018 3
2019 4
2020 1
2021 2
2022 6
2023 2
2024 4

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104 results

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Page 1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: poirier k. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
Desguerre I, Aubart M, Hashimoto Y, Poirier K, Kaminska A, Alison M, Boddaert N, Munnich A, Campbell M. Desguerre I, et al. Among authors: poirier k. Brain. 2023 Aug 1;146(8):e59-e60. doi: 10.1093/brain/awad054. Brain. 2023. PMID: 36825462 Free PMC article. No abstract available.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Among authors: poirier k. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. Among authors: poirier k. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.
[RNA isolation and purification methods].
Bastard JP, Chambert S, Ceppa F, Coude M, Grapez E, Loric S, Muzeau F, Spyratos F, Poirier K, Copois V, Tse C, Bienvenu T; Groupe de travail de la SFBC. Bastard JP, et al. Among authors: poirier k. Ann Biol Clin (Paris). 2002 Sep-Oct;60(5):513-23. Ann Biol Clin (Paris). 2002. PMID: 12368137 Free article. Review. French.
The role of ARX in cortical development.
Friocourt G, Poirier K, Rakić S, Parnavelas JG, Chelly J. Friocourt G, et al. Among authors: poirier k. Eur J Neurosci. 2006 Feb;23(4):869-76. doi: 10.1111/j.1460-9568.2006.04629.x. Eur J Neurosci. 2006. PMID: 16519652 Review.
Anorexia nervosa is associated with Neuronatin variants.
Lombardi L, Blanchet C, Poirier K, Lebrun N, Ramoz N, Rose Moro M, Gorwood P, Bienvenu T. Lombardi L, et al. Among authors: poirier k. Psychiatr Genet. 2019 Aug;29(4):103-110. doi: 10.1097/YPG.0000000000000224. Psychiatr Genet. 2019. PMID: 30933048
104 results