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Page 1
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Fountain MD, et al. Among authors: kaiser fj. Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25. Genet Med. 2019. PMID: 30679821 Free PMC article.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Braunholz D, et al. Among authors: kaiser fj. Eur J Hum Genet. 2012 Mar;20(3):271-6. doi: 10.1038/ejhg.2011.175. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934712 Free PMC article.
RAD21 mutations cause a human cohesinopathy.
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. Deardorff MA, et al. Among authors: kaiser fj. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24. Am J Hum Genet. 2012. PMID: 22633399 Free PMC article.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C. Bürk K, et al. Among authors: kaiser fj. Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486772
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K, Hüning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Platzer K, et al. Among authors: kaiser fj. Am J Med Genet A. 2014 Aug;164A(8):1976-80. doi: 10.1002/ajmg.a.36592. Epub 2014 May 5. Am J Med Genet A. 2014. PMID: 24798461 Review.
Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. Ramos FJ, et al. Among authors: kaiser fj. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537356 Free PMC article. No abstract available.
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ. Parenti I, et al. Among authors: kaiser fj. Clin Genet. 2016 Jan;89(1):74-81. doi: 10.1111/cge.12564. Epub 2015 Feb 25. Clin Genet. 2016. PMID: 25652421 Free article.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D. Bramswig NC, et al. Among authors: kaiser fj. Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28. Hum Genet. 2015. PMID: 25724810 Clinical Trial.
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT. Hollstein R, et al. Among authors: kaiser fj. J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424145 Free PMC article.
123 results