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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
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.
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
17.
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
18.
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
19.
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
20.
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Hum Genet;
139(11): 1381-1390, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32399599