Publications by authors named "Israel Gomy"

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Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis.
Paulo Victor Zattar Ribeiro, Lucas Pari Mitre, Mateus M Gauza, Paulo Henrique Furukawa, Victor Evangelista De Faria Ferraz, Israel Gomy

Ophthalmic Genet· December 2025

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Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INTGRATE Oncology Consortium.
Diane R Koeller, McKenzie Walker, Busra Unal, Anu Chittenden, Alison Schwartz Levine, Israel Gomy

Cancers (Basel)· June 2025

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Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.
Maria Inez Dacoregio, Pedro Cotta Abrahão Reis, Davi Said Gonçalves Celso, Lorena Escalante Romero, Stephan Altmayer, Israel Gomy

Eur Radiol· February 2025

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Israel Gomy

medRxiv· October 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Israel Gomy

Res Sq· June 2024

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Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
Brittany L Bychkovsky, Tianyu Li, Jilliane Sotelo, Nabihah Tayob, Joanna Mercado, Israel Gomy

Clin Cancer Res· June 2022

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Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.
Nahed Jalloul, Israel Gomy, Samantha Stokes, Alexander Gusev, Bruce E Johnson

JCO Precis Oncol· March 2022

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Newborn Screening for the Detection of the R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward.
Karina C F Tosin, Edith F Legal, Mara A D Pianovski, Humberto C Ibañez, Gislaine Custódio, Israel Gomy

Cancers (Basel)· December 2021

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Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
Eduardo Perrone, Ana Beatriz Alvarez Perez, Vânia D'Almeida, Claudia Berlim de Mello, Marcela Amaral Avelino Jacobina, Israel Gomy

Am J Med Genet A· April 2021

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One step forward, two steps backward.
Israel Gomy, Judy E Garber

Genet Med· February 2020

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Editorial: Hereditary Cancer Risk Assessment: New Perspectives and Challenges for the Next-Gen Sequencing Era.
Israel Gomy

Front Oncol· July 2016

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Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era.
Israel Gomy, Maria Del Pilar Estevez Diz

Genet Mol Biol· May 2016

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Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes.
Rolando A R Villacis, Priscila M Miranda, Israel Gomy, Erika M M Santos, Dirce M Carraro

Int J Cancer· April 2016

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Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.
Felippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, José Francisco da Silva Franco, Charles Marques Lourenço, Israel Gomy

Am J Med Genet A· May 2014

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Hereditary cancer risk assessment: essential tools for a better approach.
Israel Gomy, Maria Del Pilar Estevez Diz

Hered Cancer Clin Pract· October 2013

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Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.
Mev Dominguez Valentin, Felipe Carneiro Da Silva, Erika Maria Monteiro Santos, Sabrina Daniela Da Silva, Fabio De Oliveira Ferreira, Israel Gomy

Anticancer Res· October 2012

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Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.
Rachel Sayuri Honjo, Roberta Lelis Dutra, Michele Moreira Nunes, Israel Gomy, Leslie Domenici Kulikowski

J Genet Genomics· October 2012

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A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome.
Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, Israel Gomy, Debora Romeo Bertola

Clinics (Sao Paulo)· August 2012

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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Rebecca L Hood, Matthew A Lines, Sarah M Nikkel, Jeremy Schwartzentruber, Chandree Beaulieu, Israel Gomy

Am J Hum Genet· February 2012

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Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries.
Erika Maria Monteiro Santos, Mev Dominguez Valentin, Felipe Carneiro, Ligia Petrolini de Oliveira, Fabio de Oliveira Ferreira, Israel Gomy

BMC Cancer· February 2012

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Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
Mev Dominguez Valentin, Felipe Carneiro da Silva, Erika Maria Monteiro dos Santos, Bianca Garcia Lisboa, Ligia Petrolini de Oliveira, Israel Gomy

Fam Cancer· December 2011

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Three-year-old child with meroacrania - neurological signs.
Carolina Araújo Rodrigues Funayama, Luzia Iara Pfeifer, Ester Silveira Ramos, Patrícia Zambroni Santucci, Israel Gomy

Brain Dev· January 2011

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Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.
Israel Gomy, Greice Andreotti Molfetta, Ester de Andrade Barreto, Cristiane Ayres Ferreira, Dalila Luciola Zanette

Fam Cancer· December 2010

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Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights.
Israel Gomy, Benjamin Heck, Antônio Carlos Santos, Maria Silvia L Figueiredo, Carlos E Martinelli

Am J Med Genet A· March 2008

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Splenopancreatic field abnormality is not unique to trisomy 13.
Luiz Cesar Peres, Gustavo Henrique T de Sales Barbosa, Renata Scarpat Careta, Cristiane Miziara Nassif, João Monteiro de Pina-Neto, Israel Gomy

Pediatr Dev Pathol· November 2004

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