Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38325380
2.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-38565148
3.
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).
Hum Mol Genet
; 33(2): 103-109, 2024 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37721535
4.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Am J Hum Genet
; 110(5): 809-825, 2023 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37075751
5.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Hum Mol Genet
; 31(3): 362-375, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34494102
6.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-33743206
7.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34653363
8.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34010604
9.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-34329581
10.
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
Inglês
| MEDLINE | ID: mdl-38258669
11.
Bi-allelic LoF NRROS Variants Impairing Active TGF-ß1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
; 106(4): 559-569, 2020 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32197075
12.
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Am J Hum Genet
; 106(4): 467-483, 2020 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32220291
13.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-32413283
14.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32243864
15.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37422718
16.
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Am J Med Genet A
; 191(6): 1599-1606, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36896486
17.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-34740920
18.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34183358
19.
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
Inglês
| MEDLINE | ID: mdl-35170830
20.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31155282