Detalhe da pesquisa
1.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet;
110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36868206
2.
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.
J Med Genet;
61(2): 171-175, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37657916
3.
Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
Am J Med Genet A;
191(4): 1094-1100, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36622817
4.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat;
43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35170830
5.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet;
104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30827496
6.
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.
Genet Med;
24(8): 1618-1629, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35550369
7.
Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
Am J Med Genet A;
188(11): 3324-3330, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36073196
8.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Br J Dermatol;
187(6): 1045-1048, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35975634
9.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med;
23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33674768
10.
"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.
Int J Equity Health;
20(1): 103, 2021 04 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33865398
11.
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Hum Mutat;
41(8): 1407-1424, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32383243
12.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet;
13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28346496
13.
Hypertrophic Cardiomyopathy: Challenging the Status Quo?
Heart Lung Circ;
29(4): 556-565, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31982299
14.
A Prospective Study of Sudden Cardiac Death among Children and Young Adults.
N Engl J Med;
374(25): 2441-52, 2016 Jun 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27332903
15.
Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood.
J Genet Couns;
27(3): 549-557, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28940060
16.
KBG syndrome: An Australian experience.
Am J Med Genet A;
173(7): 1866-1877, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28449295
17.
Factors influencing uptake of familial long QT syndrome genetic testing.
Am J Med Genet A;
170A(2): 418-425, 2016 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26544151
18.
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
Am J Med Genet A;
170(10): 2694-7, 2016 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27345729
19.
A protocol for the identification and validation of novel genetic causes of kidney disease.
BMC Nephrol;
16: 152, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26374634
20.
Improving identification of lynch syndrome patients: a comparison of research data with clinical records.
Int J Cancer;
132(12): 2876-83, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23225370