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1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37541188
2.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Article
in English
| MEDLINE | ID: mdl-34508595
3.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33186545
4.
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Hum Genet
; 141(3-4): 387-400, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-34811589
5.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30245030
6.
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Genet Med
; 22(5): 945-953, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32066871
7.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Article
in English
| MEDLINE | ID: mdl-37471090
8.
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
JAMA Neurol
; 79(4): 405-413, 2022 04 01.
Article
in English
| MEDLINE | ID: mdl-35254387
9.
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
HGG Adv
; 3(3): 100113, 2022 Jul 14.
Article
in English
| MEDLINE | ID: mdl-35586607
10.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun
; 13(1): 2306, 2022 04 28.
Article
in English
| MEDLINE | ID: mdl-35484142
11.
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
Sci Rep
; 11(1): 2515, 2021 01 28.
Article
in English
| MEDLINE | ID: mdl-33510257
12.
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Front Genet
; 10: 578, 2019.
Article
in English
| MEDLINE | ID: mdl-31316545
13.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Intensive Care Med
; 45(5): 627-636, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30847515
14.
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Genome Med
; 10(1): 95, 2018 12 07.
Article
in English
| MEDLINE | ID: mdl-30526634
15.
Two alleles of NF-kappaB in the sea anemone Nematostella vectensis are widely dispersed in nature and encode proteins with distinct activities.
PLoS One
; 4(10): e7311, 2009 Oct 06.
Article
in English
| MEDLINE | ID: mdl-19806194
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