Detalles de la búsqueda
1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35907405
2.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35830857
3.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
J Med Genet
; 2024 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38834293
4.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 2024 May 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38787418
5.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clin Genet
; 105(5): 555-560, 2024 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38287449
6.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-37872713
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586840
8.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32197073
9.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37580112
10.
A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.
Alzheimer Dis Assoc Disord
; 37(1): 82-84, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-35383591
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36456879
12.
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
J Med Genet
; 59(5): 445-452, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34085946
13.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35141892
14.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Genet Med
; 24(12): 2501-2515, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36178483
15.
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
Am J Med Genet A
; 188(5): 1600-1606, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35060672
16.
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Am J Med Genet A
; 188(12): 3540-3545, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36082874
17.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32732226
18.
Variants of human CLDN9 cause mild to profound hearing loss.
Hum Mutat
; 42(10): 1321-1335, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34265170
19.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Hum Mol Genet
; 28(17): 2937-2951, 2019 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31152168
20.
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Am J Med Genet C Semin Med Genet
; 184(1): 129-135, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31965688