Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38531365
2.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37552066
3.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33596411
4.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924259
5.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37586838
6.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 405-411, 2020 03 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32109420
7.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36353900
8.
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Am J Med Genet A
; 191(2): 338-347, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36331261
9.
Incorporating pyrodiversity into wildlife habitat assessments for rapid post-fire management: A woodpecker case study.
Ecol Appl
; 33(4): e2853, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36995347
10.
Landscape heterogeneity provides co-benefits to predator and prey.
Ecol Appl
; 33(8): e2908, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37602901
11.
Mega-disturbances cause rapid decline of mature conifer forest habitat in California.
Ecol Appl
; 33(2): e2763, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36264047
12.
Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature.
Pediatr Hematol Oncol
; 40(5): 506-515, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36625737
13.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38749428
14.
Circulating tumor DNA monitoring for early recurrence detection in epithelial ovarian cancer.
Gynecol Oncol
; 167(2): 334-341, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36117009
15.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Am J Med Genet A
; 185(10): 3005-3011, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34145744
16.
Using the ecological significance of animal vocalizations to improve inference in acoustic monitoring programs.
Conserv Biol
; 35(1): 336-345, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32297668
17.
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genet Med
; 22(8): 1427, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32555415
18.
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genet Med
; 22(8): 1391-1400, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32366968
19.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32424177
20.
A scoping review of social-behaviour change techniques applied in complementary feeding interventions.
Matern Child Nutr
; 16(1): e12882, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31386791