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1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Article
in English
| MEDLINE | ID: mdl-37531237
2.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37207470
3.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-34815299
4.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34989426
5.
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Pharmacogenomics J
; 22(4): 223-229, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35436997
6.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33847017
7.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29656860
8.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34040189
9.
Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease.
Cardiol Young
; 31(8): 1275-1282, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-33536103
10.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet
; 98(4): 782-8, 2016 Apr 07.
Article
in English
| MEDLINE | ID: mdl-27040691
11.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30739909
12.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30295347
13.
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 19(8): 962, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28777376
14.
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 18(11): 1143-1150, 2016 11.
Article
in English
| MEDLINE | ID: mdl-26986877
15.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Eur J Hum Genet
; 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38565639
16.
Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.
Clin Case Rep
; 11(8): e7753, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37529132
17.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq
; 2023 Sep 29.
Article
in English
| MEDLINE | ID: mdl-37841849
18.
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
Am J Med Genet A
; 158A(11): 2935-40, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22987394
19.
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Eur J Hum Genet
; 30(1): 111-116, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34707297
20.
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
HGG Adv
; 3(4): 100122, 2022 Oct 13.
Article
in English
| MEDLINE | ID: mdl-35860725