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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Riedhammer KM, Burgemeister AL, Cantagrel V, Amiel J, Siquier-Pernet K, Boddaert N, Hertecant J, Kannouche PL, Pouvelle C, Htun S, Slavotinek AM, Beetz C, Diego-Alvarez D, Kampe K, Fleischer N, Awamleh Z, Weksberg R, Kopajtich R, Meitinger T, Suleiman J, El-Hattab AW. Riedhammer KM, et al. Among authors: fleischer n. Hum Mol Genet. 2022 Sep 10;31(18):3083-3094. doi: 10.1093/hmg/ddac098. Hum Mol Genet. 2022. PMID: 35512351 Free PMC article.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Brunet T, et al. Among authors: fleischer n. Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11. Genet Med. 2021. PMID: 33173220 Free PMC article.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. Zarate YA, et al. Among authors: fleischer n. Clin Genet. 2021 Apr;99(4):547-557. doi: 10.1111/cge.13912. Epub 2021 Jan 13. Clin Genet. 2021. PMID: 33381861 Free article. Review.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. Hsieh TC, et al. Among authors: fleischer n. Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10. Nat Genet. 2022. PMID: 35145301 Free PMC article.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Among authors: fleischer n. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388 Free article.
Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: fleischer n. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
Turner syndrome in diverse populations.
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Kruszka P, et al. Among authors: fleischer n. Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19. Am J Med Genet A. 2020. PMID: 31854143 Free PMC article.
290 results