Detalles de la búsqueda
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38565148
2.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38685113
3.
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
4.
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
J Pathol
; 256(1): 93-107, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34599609
5.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34791078
6.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34930816
7.
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat
; 43(6): 698-707, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35266241
8.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35980381
9.
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
Am J Med Genet A
; 188(1): 283-291, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34519148
10.
Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
Am J Med Genet A
; 188(5): 1556-1561, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35019233
11.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35934918
12.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34415322
13.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34163037
14.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34522029
15.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
medRxiv
; 2024 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38405995
16.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Neuron
; 111(18): 2800-2810.e5, 2023 09 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-37463579
17.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37577678
18.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq
; 2023 Sep 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37841849
19.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
medRxiv
; 2023 Oct 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37873196
20.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38328047