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Modern Medical Genetics and Genomics

2019

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One step forward, two steps backward

Genetics in medicine, 2020-02, Vol.22 (2), p.441-442

2020

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Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era

Genetics and molecular biology, 2016-05, Vol.39 (2), p.184-188

2016

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

Frontiers in oncology, 2016-06, Vol.6, p.133-133

Gomy, Israel

2016

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Three-year-old child with meroacrania – Neurological signs

Brain & development (Tokyo. 1979), 2011-01, Vol.33 (1), p.86-89

2011

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Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

BMC cancer, 2012-02, Vol.12 (1), p.64-64, Article 64

2012

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Safety and efficacy of zolbetuximab for CLDN18.2-positive gastric or gastroesophageal junction adenocarcinoma: A systematic review and meta-analysis of randomized controlled trials

Journal of clinical oncology, 2024-01, Vol.42 (3_suppl), p.370-370

2024

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Abstract LB-245: Validating models of imputing germline versus somatic status for variants detected by tumor-only genomic profiling using germline clinical testing data

Cancer research (Chicago, Ill.), 2020-08, Vol.80 (16_Supplement), p.LB-245-LB-245

2020

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Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis

European radiology, 2024-07

2024

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A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

Clinics (São Paulo, Brazil), 2012-08, Vol.67 (8), p.917-921

2012

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Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program

Clinical cancer research, 2022-06, Vol.28 (11), p.2349-2360

2022

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.308-313

2012

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Identification and management of pathogenic mutations in BRCA1, BRCA2, and PALB2 in a tumor-only genomic testing program

Journal of clinical oncology, 2021-05, Vol.39 (15_suppl), p.10528-10528

2021

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Hereditary Cancer Risk Assessment: How Best can we Achieve it?

Hereditary genetics, 2012

Gomy, Israel

2012

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Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1047-1058

2021

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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

International journal of cancer, 2016-04, Vol.138 (8), p.1928-1935

2016

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Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing

JCO precision oncology, 2021-01, Vol.5 (5), p.1749-1757

2021

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Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era

Genetics and molecular biology, 2016-01

2016

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Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward

Cancers, 2021-12, Vol.13 (23), p.6111

2021

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Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1162-1169

2014

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Abstract 2108: Prevalence of mutations in MSH6, PMS1 and PMS2 gene in Brazilian families with Lynch syndrome

Cancer research (Chicago, Ill.), 2012-04, Vol.72 (8_Supplement), p.2108-2108

2012

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Abstract 3765: APC and MUTYH mutation spectrum in Brazil: First genotype characterization of brazilian FAP and AFAP patients identifies 6 novel mutations

Cancer research (Chicago, Ill.), 2011-04, Vol.71 (8_Supplement), p.3765-3765

2011

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Hereditary cancer risk assessment: essential tools for a better approach

Hereditary cancer in clinical practice, 2013-10, Vol.11 (1), p.16-16, Article 16

2013

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Colorectal cancer inherited susceptibility: The first replication study in the Brazilian population

Journal of clinical oncology, 2013-02, Vol.31 (4_suppl), p.361-361

2013

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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

Journal of genetics and genomics, 2012-10, Vol.39 (10), p.571-574

2012

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Modern Medical Genetics and Genomics

One step forward, two steps backward

Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era

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

Three-year-old child with meroacrania – Neurological signs

Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

Safety and efficacy of zolbetuximab for CLDN18.2-positive gastric or gastroesophageal junction adenocarcinoma: A systematic review and meta-analysis of randomized controlled trials

Abstract LB-245: Validating models of imputing germline versus somatic status for variants detected by tumor-only genomic profiling using germline clinical testing data

Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Identification and management of pathogenic mutations in BRCA1, BRCA2, and PALB2 in a tumor-only genomic testing program

Hereditary Cancer Risk Assessment: How Best can we Achieve it?

Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome

Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes

Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing

Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era

Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

Abstract 2108: Prevalence of mutations in MSH6, PMS1 and PMS2 gene in Brazilian families with Lynch syndrome

Abstract 3765: APC and MUTYH mutation spectrum in Brazil: First genotype characterization of brazilian FAP and AFAP patients identifies 6 novel mutations

Hereditary cancer risk assessment: essential tools for a better approach

Colorectal cancer inherited susceptibility: The first replication study in the Brazilian population

Atypical Deletion in Williams-Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty

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