Detalhe da pesquisa
1.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Hum Mutat
; 43(12): 1816-1823, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36317458
2.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906496
3.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961569
4.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Clin Genet
; 100(2): 227-233, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33963760
5.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Genet Med
; 22(10): 1633-1641, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32576985
6.
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Am J Med Genet A
; 182(1): 189-194, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31633297
7.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26805781
8.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26637980
9.
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
Am J Med Genet A
; 176(4): 973-979, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29423971
10.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(4): 377-386, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28251352
11.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Am J Hum Genet
; 94(5): 784-9, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24791903
12.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25439098
13.
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Am J Med Genet A
; 170(8): 2206-11, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27250922
14.
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(8): 1009-1011, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28660352
15.
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Genome Med
; 14(1): 113, 2022 09 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36180924
16.
Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Pediatr Neurol
; 114: 16-20, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33189025
17.
Concerted action of poly(A) nucleases and decapping enzyme in mammalian mRNA turnover.
Nat Struct Mol Biol
; 12(12): 1054-63, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16284618
18.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 16, 2019 03 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30909959
19.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 12, 2019 02 28.
Artigo
Inglês
| MEDLINE | ID: mdl-30819258
20.
Deadenylation is prerequisite for P-body formation and mRNA decay in mammalian cells.
J Cell Biol
; 182(1): 89-101, 2008 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-18625844