Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38503299
2.
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Hum Genet
; 143(5): 683-694, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38592547
3.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genet Med
; 26(4): 101059, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38158857
4.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38529886
5.
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.
Clin Genet
; 105(6): 666-670, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38385987
6.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37974505
7.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38038360
8.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32109418
9.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31079897
10.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36197437
11.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35027293
12.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35579625
13.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35833929
14.
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Pediatr Dev Pathol
; 25(5): 548-552, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35481434
15.
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.
Pediatr Dermatol
; 39(3): 434-437, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35258128
16.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29656859
17.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34163037
18.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33506510
19.
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
Brain
; 143(7): 2027-2038, 2020 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32542401
20.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32694869