Detalhe da pesquisa
1.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet
; 108(7): 1342-1349, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143952
2.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894126
3.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101119, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465576
4.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
5.
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Neth Heart J
; 31(7-8): 315-323, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37505369
6.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
7.
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Clin Genet
; 101(2): 183-189, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671974
8.
Prognostic significance of left atrial strain in sarcomere gene variant carriers without hypertrophic cardiomyopathy.
Echocardiography
; 39(9): 1209-1218, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35978457
9.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996
10.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471716
11.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
12.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Am J Med Genet A
; 185(12): 3814-3820, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34254723
13.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand
; 100(6): 1106-1115, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249554
14.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343630
15.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32480058
16.
PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability.
Mov Disord
; 33(11): 1814-1819, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30398675
17.
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Neurogenetics
; 17(3): 159-64, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27003583
18.
Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.
Circ Res
; 112(11): 1491-505, 2013 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-23508784
19.
Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.
Pflugers Arch
; 466(8): 1619-33, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24186209
20.
Cancer Treatment-Related Complications in Patients With Hypertrophic Cardiomyopathy.
Mayo Clin Proc
; 99(2): 218-228, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38180395