Search details
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37071997
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Article
in English
| MEDLINE | ID: mdl-33057194
3.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34329581
4.
Gene selection for genomic newborn screening: Moving toward consensus?
Genet Med
; 26(5): 101077, 2024 Jan 23.
Article
in English
| MEDLINE | ID: mdl-38275146
5.
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 Jan 19.
Article
in English
| MEDLINE | ID: mdl-38258669
6.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34740920
7.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34183358
8.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35077597
9.
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.
Genet Med
; 24(5): 1037-1044, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35181209
10.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Am J Med Genet A
; 188(12): 3432-3447, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36367278
11.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Genet Med
; 22(12): 1986-1993, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32773771
12.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genet Med
; 20(12): 1554-1563, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29543227
13.
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Genet Med
; 20(9): 1061-1068, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29215649
14.
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Hum Genet
; 135(5): 569-586, 2016 May.
Article
in English
| MEDLINE | ID: mdl-27071622
15.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Genet Med
; 18(11): 1090-1096, 2016 11.
Article
in English
| MEDLINE | ID: mdl-26938784
16.
Cervicofacial subcutaneous emphysema: a clinical case and review of the literature.
Gen Dent
; 64(3): 68-71, 2016.
Article
in English
| MEDLINE | ID: mdl-27148661
17.
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
Am J Med Genet A
; 167A(10): 2319-26, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26059276
18.
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
BMJ Open
; 14(4): e081426, 2024 Apr 03.
Article
in English
| MEDLINE | ID: mdl-38569677
19.
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
J Med Genet
; 47(5): 299-311, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20452996
20.
Letters to the Editor Regarding Dr. Laskin's Perspectives Article.
J Oral Maxillofac Surg
; 73(6): 1025-6, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25939567