Search details
1.
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Genet Med
; 22(11): 1892-1897, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32624572
2.
Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.
Cytogenet Genome Res
; 152(3): 117-121, 2017.
Article
in English
| MEDLINE | ID: mdl-28854430
3.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Am J Med Genet A
; 173(11): 3087-3092, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28898540
4.
Correspondence on "The prevalence of genetic diagnoses in fetuses with severe congenital heart defects" by Nisselrooij et al.
Genet Med
; 23(1): 234-235, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32980861
5.
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
Eur J Hum Genet
; 31(5): 602-606, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36797466
6.
Updated Approach to Patients with Multiple Café au Lait Macules.
Dermatol Clin
; 40(1): 9-23, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34799039
7.
Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.
JAMA Oncol
; 7(12): 1806-1814, 2021 Dec 01.
Article
in English
| MEDLINE | ID: mdl-34617981
8.
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
JNCI Cancer Spectr
; 4(5): pkaa045, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-33134827
9.
Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes.
Nat Cancer
; 1(4): 452-468, 2020 04.
Article
in English
| MEDLINE | ID: mdl-35121966
10.
Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.
Cold Spring Harb Mol Case Stud
; 5(2)2019 04.
Article
in English
| MEDLINE | ID: mdl-30833417
11.
Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma.
Cold Spring Harb Mol Case Stud
; 4(6)2018 12.
Article
in English
| MEDLINE | ID: mdl-30446580
12.
Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma.
NPJ Precis Oncol
; 2(1): 8, 2018.
Article
in English
| MEDLINE | ID: mdl-29872726
13.
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 Harb Mol Case Stud
; 3(5)2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28514723
14.
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 Harb Mol Case Stud
; 4(4)2018 08.
Article
in English
| MEDLINE | ID: mdl-30068734
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