Detalhe da pesquisa
1.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
2.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
J Med Genet
; 61(3): 289-293, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833060
3.
Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.
Prenat Diagn
; 44(3): 270-279, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221678
4.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn
; 44(4): 511-518, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353311
5.
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
J Med Genet
; 60(1): 99-105, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264407
6.
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
J Med Genet
; 60(3): 233-240, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710109
7.
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.
Neurogenetics
; 24(1): 61-66, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445597
8.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
9.
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Brain
; 145(3): 872-878, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788402
10.
Biallelic variants in PAX3 cause Klein syndrome.
Clin Genet
; 102(3): 223-227, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607853
11.
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Am J Med Genet A
; 188(10): 3110-3117, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943032
12.
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Am J Med Genet A
; 188(1): 336-342, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34585832
13.
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Prenat Diagn
; 42(7): 881-889, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132406
14.
Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.
Prenat Diagn
; 42(8): 1038-1048, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484937
15.
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
J Med Genet
; 58(3): 205-212, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430360
16.
Multi-system neurological disorder associated with a CRYAB variant.
Neurogenetics
; 22(2): 117-125, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811585
17.
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Clin Genet
; 99(4): 577-582, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410501
18.
Clinicians' attitudes towards parental choice in the era of advanced genomic tests in pregnancy.
Prenat Diagn
; 41(9): 1066-1073, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34259341
19.
Toll-like receptor 3 (TLR3) variant and NLRP12 mutation confer susceptibility to a complex clinical presentation.
Clin Immunol
; 212: 108249, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31445170
20.
Grandparental genotyping enhances exome variant interpretation.
Am J Med Genet A
; 182(4): 689-696, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027463