Detalles de la búsqueda
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell;
172(5): 924-936.e11, 2018 02 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-29474920
2.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
J Med Genet;
61(3): 250-261, 2024 Feb 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38050128
3.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet;
108(9): 1692-1709, 2021 09 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34375587
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38258669
5.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet;
107(6): 1157-1169, 2020 12 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33159883
6.
Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
J Genet Couns;
2023 Aug 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37533186
7.
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Hum Mutat;
43(10): 1430-1442, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35789514
8.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet;
104(3): 542-552, 2019 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30827498
9.
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.
Am Heart J;
244: 1-13, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34670123
10.
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.
Genet Med;
24(9): 1803-1813, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35659827
11.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med;
24(9): 1952-1966, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35916866
12.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab;
137(1-2): 62-67, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35926322
13.
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.
J Inherit Metab Dis;
45(5): 902-906, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35460079
14.
Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.
Prenat Diagn;
42(13): 1658-1666, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36289583
15.
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
J Paediatr Child Health;
58(1): 8-15, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34427008
16.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet;
140(7): 1061-1076, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33811546
17.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hum Mutat;
41(8): 1425-1434, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32442335
18.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
J Med Genet;
56(9): 629-638, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31129566
19.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA;
323(24): 2503-2511, 2020 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573669
20.
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Hum Mutat;
40(10): 1813-1825, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31215115