Search details
1.
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
J Med Genet
; 61(3): 244-249, 2024 Feb 21.
Article
in English
| MEDLINE | ID: mdl-37857482
2.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Article
in English
| MEDLINE | ID: mdl-37879892
3.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38117302
4.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37860968
5.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38424388
6.
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
J Med Genet
; 60(4): 346-351, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36270767
7.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32442410
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.
Article
in English
| MEDLINE | ID: mdl-32109418
9.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenat Diagn
; 43(6): 746-755, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37173814
10.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34321324
11.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Am J Hum Genet
; 104(4): 596-610, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30879640
12.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Article
in English
| MEDLINE | ID: mdl-31079897
13.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906476
14.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35980381
15.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34866188
16.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35470444
17.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Article
in English
| MEDLINE | ID: mdl-35163737
18.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34054129
19.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34113005
20.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33824499