Detalhe da pesquisa
1.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
2.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
3.
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Hum Genomics
; 17(1): 39, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138343
4.
Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.
Eur J Pediatr
; 182(8): 3789-3793, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272991
5.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
6.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(4): 701-708, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879638
7.
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Am J Med Genet A
; 188(11): 3242-3261, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979676
8.
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
J Med Genet
; 57(9): 581-589, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303604
9.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203967
10.
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Hum Mutat
; 41(5): 1042-1050, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097528
11.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenat Diagn
; 40(8): 972-983, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333414
12.
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
J Med Genet
; 56(10): 654-661, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040167
13.
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Hum Mutat
; 39(7): 1014-1023, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688601
14.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A
; 176(4): 862-876, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460469
15.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Genet Med
; 19(6): 667-675, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574513
16.
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
Am J Med Genet A
; 173(11): 2968-2972, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884940
17.
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Am J Med Genet A
; 173(7): 1813-1820, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28513979
18.
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Am J Med Genet A
; 170(7): 1874-80, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27109146
19.
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations.
Proc Natl Acad Sci U S A
; 110(6): 2157-62, 2013 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23355676
20.
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.
Acta Derm Venereol
; 100(8): adv00103, 2020 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633190