Detalhe da pesquisa
1.
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Hum Mol Genet
; 32(18): 2822-2831, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37384395
2.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
3.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
4.
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
em Inglês
| MEDLINE | ID: mdl-38158857
5.
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Clin Genet
; 105(5): 581-583, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38379111
6.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clin Genet
; 105(5): 555-560, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287449
7.
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Prenat Diagn
; 44(3): 352-356, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342957
8.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
9.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586840
10.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459409
11.
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Neurobiol Dis
; 185: 106259, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37573958
12.
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Hum Genet
; 142(1): 125-138, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36138164
13.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
14.
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
em Inglês
| MEDLINE | ID: mdl-32109418
15.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Genet Med
; 25(7): 100857, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092539
16.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
17.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681873
18.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580112
19.
A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.
Alzheimer Dis Assoc Disord
; 37(1): 82-84, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383591
20.
Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature.
Neurol Sci
; 44(4): 1207-1210, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36456879