Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
3.
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
Am J Hum Genet
; 108(4): 696-708, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743207
4.
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
Am J Med Genet A
; : e63646, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702915
5.
Applications of artificial intelligence in clinical laboratory genomics.
Am J Med Genet C Semin Med Genet
; 193(3): e32057, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507620
6.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
7.
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel.
Genet Med
; 24(4): 821-830, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34961661
8.
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
Am J Med Genet A
; 188(9): 2642-2651, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570716
9.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
Epilepsia
; 63(7): e68-e73, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474188
10.
Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay.
Reprod Biomed Online
; 44(2): 228-238, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039224
11.
The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages.
Reprod Biomed Online
; 45(1): 125-134, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35523710
12.
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Hum Mutat
; 42(9): 1165-1172, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196078
13.
Democratizing genomics: Leveraging software to make genetics an integral part of routine care.
Am J Med Genet C Semin Med Genet
; 187(1): 14-27, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296144
14.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404389
15.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
16.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690835
17.
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Am J Med Genet A
; 182(7): 1767-1775, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32297715
18.
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Genet Med
; 21(1): 114-123, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895855
19.
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female.
Pediatr Blood Cancer
; 66(8): e27788, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038288
20.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261438