Detalhe da pesquisa
1.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Am J Hum Genet
; 109(8): 1472-1483, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931051
2.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258669
3.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675124
4.
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.
PLoS Genet
; 16(8): e1008941, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32760060
5.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904126
6.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400
7.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811546
8.
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
Int J Mol Sci
; 22(10)2021 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070208
9.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hum Mutat
; 41(8): 1425-1434, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442335
10.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719395
11.
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Genet Med
; 22(10): 1623-1632, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499604
12.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Am J Med Genet A
; 182(7): 1576-1591, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500973
13.
From maternal tending to adolescent befriending: The adolescent transition of social support.
Am J Primatol
; 82(11): e23050, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31531899
14.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
15.
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Genet Med
; 21(5): 1111-1120, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293987
16.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat
; 39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266598
17.
Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.
Development
; 142(1): 218-28, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25516977
18.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
19.
TM6SF2 rs58542926 impacts lipid processing in liver and small intestine.
Hepatology
; 65(5): 1526-1542, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027591
20.
Quality of life and burden in caregivers of youth with obsessive-compulsive disorder presenting for intensive treatment.
Compr Psychiatry
; 80: 46-56, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29031217