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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36933558
2.
Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR).
J Clin Immunol
; 44(1): 38, 2024 01 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38165470
3.
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.
J Med Genet
; 60(3): 265-273, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36763037
4.
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
J Clin Immunol
; 42(1): 119-129, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34657245
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35550369
6.
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
J Am Soc Nephrol
; 32(9): 2273-2290, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34400539
7.
The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery.
J Clin Immunol
; 40(5): 763-766, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32483663
8.
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Genet Med
; 21(3): 608-612, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29961766
9.
Making sense of a haemolysis monitoring and reporting system: a nationwide longitudinal multimethod study of 68 Australian laboratory participant organisations.
Clin Chem Lab Med
; 56(4): 565-573, 2018 03 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-28915106
10.
Key factors influencing the incidence of hemolysis: A critical appraisal of current evidence.
Crit Rev Clin Lab Sci
; 54(1): 59-72, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28013559
11.
The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling.
Genet Med
; 17(3): 197-204, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25077650
12.
Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.
J Paediatr Child Health
; 51(3): 271-9, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24923490
13.
Neuropathological Applications of Microscopy with Ultraviolet Surface Excitation (MUSE): A Concordance Study of Human Primary and Metastatic Brain Tumors.
Brain Sci
; 14(1)2024 Jan 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38275528
14.
Hyper-IgM and acquired C1q complement deficiency in a patient with de novo ATM mutation.
Oxf Med Case Reports
; 2023(2): omad005, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36860961
15.
Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.
Eur J Hum Genet
; 31(3): 257-261, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36631541
16.
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.
Med J Aust
; 197(11): 652-4, 2012 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23230938
17.
Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community.
J Community Genet
; 13(1): 121-131, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34846685
18.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
J Pers Med
; 12(11)2022 Oct 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36579509
19.
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Genome Med
; 13(1): 32, 2021 02 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33632298
20.
Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper.
BMJ Open
; 11(6): e041186, 2021 06 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34172541