Detalhe da pesquisa
1.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
2.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
J Med Genet
; 60(9): 866-873, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977548
3.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
; 106(2): 272-279, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004445
4.
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
Am J Med Genet A
; 191(7): 1973-1977, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102432
5.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Hum Mutat
; 43(7): 963-970, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476365
6.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol
; 90(1): 143-158, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999436
7.
Role of the electrocardiogram in differentiating genetically determined dilated cardiomyopathy from athlete's heart.
Eur J Clin Invest
; 52(10): e13837, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849080
8.
Expanding the phenotype of TAB2 variants and literature review.
Am J Med Genet A
; 188(11): 3331-3342, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971781
9.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400813
10.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
11.
Detection of structural mosaicism from targeted and whole-genome sequencing data.
Genome Res
; 27(10): 1704-1714, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28855261
12.
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.
BMC Med Genet
; 21(1): 7, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31910817
13.
Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy.
Europace
; 22(4): 632-642, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011662
14.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
; 142(1): 50-58, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576410
15.
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.
Circulation
; 138(12): 1184-1194, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29764897
16.
Electrocardiographic differentiation between 'benign T-wave inversion' and arrhythmogenic right ventricular cardiomyopathy.
Europace
; 21(2): 332-338, 2019 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30169617
17.
Cerebral organoids model human brain development and microcephaly.
Nature
; 501(7467): 373-9, 2013 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23995685
18.
Obstetric complications in pregnancies with life-limiting malformations.
Curr Opin Obstet Gynecol
; 31(6): 375-387, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31693566
19.
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
Am J Med Genet A
; 176(2): 319-329, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194955
20.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039