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Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Genetics in medicine, 2020-11, Vol.22 (11), p.1892-1897

2020

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Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma

Cold Spring Harbor molecular case studies, 2018-12, Vol.4 (6), p.a003137

2018

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Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma

NPJ precision oncology, 2018-03, Vol.2 (1), p.8, Article 8

2018

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Correspondence on “The prevalence of genetic diagnoses in fetuses with severe congenital heart defects” by Nisselrooij et al

Genetics in medicine, 2021-01, Vol.23 (1), p.234-235

2021

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Updated Approach to Patients with Multiple Café au Lait Macules

Dermatologic clinics, 2022-01, Vol.40 (1), p.9-23

2022

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eP381 - Haplotype-resolved germline structural variation underlying male breast cancer predisposition syndromes

Molecular genetics and metabolism, 2021-04, Vol.132, p.S247-S247

2021

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Haplotype-resolved germline structural variation underlying male breast cancer predisposition syndromes

Molecular genetics and metabolism, 2021-04, Vol.132, p.S247

2021

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Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing

European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.602-606

2023

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Abstract 2021: Wilms tumor and pure erythroid leukemia arising from the same clone in an adolescent

Cancer research (Chicago, Ill.), 2022-06, Vol.82 (12_Supplement), p.2021-2021

2022

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Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

JAMA oncology, 2021-12, Vol.7 (12), p.1806

2021

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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3087-3092

2017

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Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

Cytogenetic and genome research, 2017, Vol.152 (3), p.117-121

2017

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Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology

JNCI cancer spectrum, 2020-10, Vol.4 (5), p.pkaa045-pkaa045

2020

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Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis

Cold Spring Harbor molecular case studies, 2019-04, Vol.5 (2), p.a003681

2019

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Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2 :c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

Cold Spring Harbor molecular case studies, 2017-09, Vol.3 (5), p.a001628

2017

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Corrigendum: Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2 :c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

Cold Spring Harbor molecular case studies, 2018-08, Vol.4 (4), p.a003327

2018

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Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma

NPJ precision oncology, 2018, Vol.2 (1), p.8-8

2018

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Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma

Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma

Correspondence on “The prevalence of genetic diagnoses in fetuses with severe congenital heart defects” by Nisselrooij et al

Updated Approach to Patients with Multiple Café au Lait Macules

eP381 - Haplotype-resolved germline structural variation underlying male breast cancer predisposition syndromes

Haplotype-resolved germline structural variation underlying male breast cancer predisposition syndromes

Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing

Abstract 2021: Wilms tumor and pure erythroid leukemia arising from the same clone in an adolescent

Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis

Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2 :c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

Corrigendum: Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2 :c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma

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