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1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38565148
2.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med
; 390(21): 1985-1997, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38838312
3.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33743206
4.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet
; 108(1): 8-15, 2021 01 07.
Article
in English
| MEDLINE | ID: mdl-33417889
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 May.
Article
in English
| MEDLINE | ID: mdl-38258669
6.
Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS.
Cleft Palate Craniofac J
; 61(1): 33-39, 2024 01.
Article
in English
| MEDLINE | ID: mdl-35898178
7.
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Am J Hum Genet
; 106(4): 467-483, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32220291
8.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32413283
9.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med
; 25(9): 100883, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37154149
10.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36651519
11.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Article
in English
| MEDLINE | ID: mdl-35851598
12.
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
13.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35346573
14.
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
15.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet
; 101(6): 985-994, 2017 Dec 07.
Article
in English
| MEDLINE | ID: mdl-29198724
16.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32814847
17.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Am J Hum Genet
; 98(3): 579-587, 2016 Mar 03.
Article
in English
| MEDLINE | ID: mdl-26942290
18.
Response to Hamosh et al.
Am J Hum Genet
; 108(9): 1809-1810, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34478656
19.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30245513
20.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31530938