Search details
1.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36243009
2.
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
Brain
; 146(4): 1624-1636, 2023 04 19.
Article
in English
| MEDLINE | ID: mdl-36171642
3.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31256876
4.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30377383
5.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30607024
6.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Hum Mutat
; 37(8): 812-9, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27068579
7.
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.
Breast Cancer Res
; 18(1): 52, 2016 05 17.
Article
in English
| MEDLINE | ID: mdl-27184744
8.
Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.
Am J Med Genet A
; 170(6): 1479-84, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26994744
9.
Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic.
Eur J Pediatr
; 175(7): 993-1000, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27220871
10.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25604898
11.
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
Am J Med Genet C Semin Med Genet
; 166C(3): 315-26, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-25169753
12.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Am J Med Genet C Semin Med Genet
; 163C(2): 92-105, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23606591
13.
Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.
Otol Neurotol
; 44(4): 360-366, 2023 04 01.
Article
in English
| MEDLINE | ID: mdl-36804529
14.
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Hum Mutat
; 33(11): 1599-609, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22837079
15.
Legius syndrome in fourteen families.
Hum Mutat
; 32(1): E1985-98, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21089071
16.
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Cancers (Basel)
; 13(17)2021 Sep 02.
Article
in English
| MEDLINE | ID: mdl-34503238
17.
Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.
Otol Neurotol
; 41(9): 1240-1248, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32925850
18.
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Otol Neurotol
; 39(6): 732-738, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29889784
19.
Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma.
Fam Cancer
; 17(4): 569-576, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29961174
20.
N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.
J Cyst Fibros
; 6(3): 220-2, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17127107