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33 results

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Page 1
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Among authors: beleza meireles a. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Alharatani R, et al. Among authors: beleza meireles a. Hum Mol Genet. 2020 Jul 21;29(11):1900-1921. doi: 10.1093/hmg/ddaa050. Hum Mol Genet. 2020. PMID: 32196547 Free PMC article.
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.
Youlten SE, Kemp JP, Logan JG, Ghirardello EJ, Sergio CM, Dack MRG, Guilfoyle SE, Leitch VD, Butterfield NC, Komla-Ebri D, Chai RC, Corr AP, Smith JT, Mohanty ST, Morris JA, McDonald MM, Quinn JMW, McGlade AR, Bartonicek N, Jansson M, Hatzikotoulas K, Irving MD, Beleza-Meireles A, Rivadeneira F, Duncan E, Richards JB, Adams DJ, Lelliott CJ, Brink R, Phan TG, Eisman JA, Evans DM, Zeggini E, Baldock PA, Bassett JHD, Williams GR, Croucher PI. Youlten SE, et al. Among authors: beleza meireles a. Nat Commun. 2021 May 5;12(1):2444. doi: 10.1038/s41467-021-22517-1. Nat Commun. 2021. PMID: 33953184 Free PMC article.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Among authors: beleza meireles a. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V. Coolen M, et al. Among authors: beleza meireles a. Am J Hum Genet. 2022 May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. Am J Hum Genet. 2022. PMID: 35390279 Free PMC article.
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A, Kaw K, Hostetler EM, Beleza-Meireles A, Smith-Collins A, Armstrong C, Scurr I, Cotts T, Aatre R, Bamshad MJ, Earl D, Groner A, Agre K, Raveh Y, Kwartler CS, Milewicz DM. Kaw A, et al. Among authors: beleza meireles a. Am J Med Genet A. 2022 Aug;188(8):2389-2396. doi: 10.1002/ajmg.a.62775. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567597 Free PMC article.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y, Bellen HJ. Lu S, et al. Among authors: beleza meireles a. Am J Hum Genet. 2022 Oct 6;109(10):1932-1943. doi: 10.1016/j.ajhg.2022.09.005. Am J Hum Genet. 2022. PMID: 36206744 Free PMC article.
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Sabir AH, Morley E, Sheikh J, Calder AD, Beleza-Meireles A, Cheung MS, Cocca A, Jansson M, Lillis S, Patel Y, Yau S, Hall CM, Offiah AC, Irving M. Sabir AH, et al. Among authors: beleza meireles a. BMC Med Genomics. 2021 Jun 6;14(1):148. doi: 10.1186/s12920-021-00993-0. BMC Med Genomics. 2021. PMID: 34092239 Free PMC article.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: beleza meireles a. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
33 results