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9 results
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164.
Brain. 2022.
PMID: 35769015
Free PMC article.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J.
Van Bergen NJ, et al. Among authors: willis mjh.
Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374.
Brain. 2020.
PMID: 31794024
Free PMC article.
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.
Pant DC, et al.
J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.
J Clin Invest. 2019.
PMID: 30620337
Free PMC article.
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch…
See abstract for full author list ➔
Wiessner M, et al. Among authors: willis mjh.
Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041.
Brain. 2021.
PMID: 33970200
Free PMC article.
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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik…
See abstract for full author list ➔
Wiessner M, et al. Among authors: willis mjh.
Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193.
Brain. 2021.
PMID: 34480796
Free PMC article.
No abstract available.
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A familial case of diffuse cutaneous mastocytosis.
Wangberg H, Willis MJH, Lindsey D, Schmidgal EC, White AA.
Wangberg H, et al. Among authors: willis mjh.
J Allergy Clin Immunol Pract. 2023 Dec;11(12):3802-3803. doi: 10.1016/j.jaip.2023.08.019. Epub 2023 Aug 19.
J Allergy Clin Immunol Pract. 2023.
PMID: 37598730
No abstract available.
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Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability.
Millson A, Lagrave D, Willis MJ, Rowe LR, Lyon E, South ST.
Millson A, et al.
Am J Med Genet A. 2012 Jan;158A(1):159-65. doi: 10.1002/ajmg.a.34349. Epub 2011 Nov 21.
Am J Med Genet A. 2012.
PMID: 22106001
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Expanding the phenotype of mosaic trisomy 20.
Willis MJ, Bird LM, Dell'Aquilla M, Jones MC.
Willis MJ, et al.
Am J Med Genet A. 2008 Feb 1;146A(3):330-6. doi: 10.1002/ajmg.a.32126.
Am J Med Genet A. 2008.
PMID: 18203170
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Natural history of prenatally diagnosed 46,X,isodicentric Y.
Willis MJ, Bird LM, Dell'aquilla M, Jones MC.
Willis MJ, et al.
Prenat Diagn. 2006 Feb;26(2):134-7. doi: 10.1002/pd.1352.
Prenat Diagn. 2006.
PMID: 16463293
Review.
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