WNT5A mutations in patients with autosomal dominant Robinow syndrome AD Person, S Beiraghi, CM Sieben, S Hermanson, AN Neumann, ... Developmental dynamics: an official publication of the American Association …, 2010 | 269 | 2010 |
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ... Cytogenetic and genome research 115 (3-4), 254-261, 2006 | 141 | 2006 |
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome J White, JF Mazzeu, A Hoischen, SN Jhangiani, T Gambin, MC Alcino, ... The American Journal of Human Genetics 96 (4), 612-622, 2015 | 137 | 2015 |
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome JF Mazzeu, E Pardono, AM Vianna‐Morgante, A Richieri‐Costa, ... American journal of medical genetics Part A 143 (4), 320-325, 2007 | 119 | 2007 |
WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 112 | 2018 |
DVL3 alleles resulting in a− 1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome JJ White, JF Mazzeu, A Hoischen, Y Bayram, M Withers, A Gezdirici, ... The American Journal of Human Genetics 98 (3), 553-561, 2016 | 108 | 2016 |
Integrated assessment of toxic effects of maghemite (γ-Fe2O3) nanoparticles in zebrafish RAR Villacis, S José Filho, B Pina, RB Azevedo, A Pic-Taylor, JF Mazzeu, ... Aquatic toxicology 191, 219-225, 2017 | 59 | 2017 |
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ... Nature 617 (7962), 764-768, 2023 | 54 | 2023 |
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome A Bonaldi, JF Mazzeu, SS Costa, RS Honjo, DR Bertola, LMJ Albano, ... American journal of medical genetics Part A 155 (10), 2479-2483, 2011 | 54 | 2011 |
Genetic and genomics in congenital heart disease: a clinical review A Saliba, ACV Figueiredo, JE Baroneza, JY Afiune, A Pic-Taylor, ... Jornal de Pediatria 96, 279-288, 2020 | 52 | 2020 |
Novel genes and sex differences in COVID-19 severity R Cruz, S Diz-de Almeida, M López de Heredia, I Quintela, FC Ceballos, ... Human Molecular Genetics 31 (22), 3789-3806, 2022 | 48 | 2022 |
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis … FS Jehee, ACV Krepischi-Santos, KM Rocha, DP Cavalcanti, CA Kim, ... Journal of medical genetics 45 (7), 447-450, 2008 | 42 | 2008 |
Autosomal dominant Robinow syndrome M Roifman, H Brunner, J Lohr, J Mazzeu, D Chitayat | 27 | 2019 |
Major contribution of genomic copy number variation in syndromic congenital heart disease: the use of MLPA as the first genetic test RAC Monteiro, ML de Freitas, GS Vianna, VT de Oliveira, RX Pietra, ... Molecular Syndromology 8 (5), 227-235, 2017 | 27 | 2017 |
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability C Zhang, A Jolly, BJ Shayota, JF Mazzeu, H Du, M Dawood, PC Soper, ... Human Genetics and Genomics Advances 3 (1), 2022 | 25 | 2022 |
Non-overlapping 22q11. 2 microdeletions in patients with oculo-auriculo-vertebral spectrum PAC Dos Santos, SF de Oliveira, EL Freitas, HPN Safatle, C Rosenberg, ... American journal of medical genetics. Part A 164 (2), 551-553, 2014 | 22 | 2014 |
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome C Zhang, JF Mazzeu, J Eisfeldt, CM Grochowski, J White, ZC Akdemir, ... American Journal of Medical Genetics Part A 185 (12), 3593-3600, 2021 | 21 | 2021 |
Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report PM Yamaguti, PAC dos Santos, BS Leal, VBBM Santana, JF Mazzeu, ... BMC nephrology 16, 1-6, 2015 | 21 | 2015 |
Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations AC Vaqueiro, CP de Oliveira, MS Cordoba, BR Versiani, CX de Carvalho, ... European Journal of Medical Genetics 61 (1), 29-33, 2018 | 20 | 2018 |
Baylor-Hopkins Center for Mendelian Genomics: DVL3 alleles resulting in a-1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome JJ White, JF Mazzeu, A Hoischen, Y Bayram, M Withers, A Gezdirici, ... Am. J. Hum. Genet 98, 553-561, 2016 | 19 | 2016 |