Detalhe da pesquisa
1.
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Am J Hum Genet
; 108(8): 1423-1435, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237281
2.
Optical genome mapping enables constitutional chromosomal aberration detection.
Am J Hum Genet
; 108(8): 1409-1422, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237280
3.
A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
Am J Hematol
; 99(4): 642-661, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164980
4.
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
J Am Soc Nephrol
; 34(2): 333-345, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302598
5.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
6.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524988
7.
RNA Sequencing Elucidates Drug-Specific Mechanisms of Antibiotic Tolerance and Resistance in Mycobacterium abscessus.
Antimicrob Agents Chemother
; 66(1): e0150921, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633851
8.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 465-484, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410491
9.
Optical genome mapping for structural variation analysis in hematologic malignancies.
Am J Hematol
; 97(7): 975-982, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35560245
10.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
J Pathol
; 255(2): 202-211, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231212
11.
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.
Mol Psychiatry
; 25(9): 2047-2057, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30116028
12.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenat Diagn
; 40(8): 972-983, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333414
13.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Hum Mutat
; 40(10): 1749-1759, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31212395
14.
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.
Gastroenterology
; 163(6): 1691-1694.e7, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36037994
15.
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 991, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34608567
16.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Clin Chem
; 63(2): 503-512, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974384
17.
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Am J Hum Genet
; 93(1): 110-7, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746546
18.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet
; 92(6): 946-54, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664116
19.
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
J Pathol
; 236(2): 155-64, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712196
20.
Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations.
Prenat Diagn
; 36(3): 216-23, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26774010