Search details
1.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Hum Genomics
; 17(1): 16, 2023 03 02.
Article
in English
| MEDLINE | ID: mdl-36859317
2.
The taxonomy of subjective cognitive decline: proposal and first clinical evidence from the Geneva memory clinic cohort.
Neurodegener Dis
; 2024 May 18.
Article
in English
| MEDLINE | ID: mdl-38763140
3.
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
Hum Mol Genet
; 29(23): 3757-3764, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33205811
4.
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.
Clin Genet
; 104(5): 505-515, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37434539
5.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36371792
6.
[Clinical utility of Genome Boards for patients with complex genetic diseases]. / Utilité clinique des genome boards pour les maladies génétiques complexes.
Rev Med Suisse
; 19(848): 2073-2079, 2023 Nov 01.
Article
in French
| MEDLINE | ID: mdl-37910058
7.
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
Hum Genet
; 141(11): 1697-1704, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-35488921
8.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Hum Mutat
; 42(4): 373-377, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33492714
9.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34345024
10.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34037256
11.
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Hum Mutat
; 41(2): 512-524, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31696992
12.
The genetics of congenitally small brains.
Semin Cell Dev Biol
; 76: 76-85, 2018 04.
Article
in English
| MEDLINE | ID: mdl-28912110
13.
LARS2-Perrault syndrome: a new case report and literature review.
BMC Med Genet
; 21(1): 109, 2020 05 18.
Article
in English
| MEDLINE | ID: mdl-32423379
14.
Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.
Gastroenterology
; 154(8): 2165-2177, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29501442
15.
[Genetics of hearing disorders in children]. / Génétique des troubles auditifs chez l'enfant.
Rev Med Suisse
; 15(665): 1740-1745, 2019 Oct 02.
Article
in French
| MEDLINE | ID: mdl-31580017
16.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29243349
17.
DIDA: A curated and annotated digenic diseases database.
Nucleic Acids Res
; 44(D1): D900-7, 2016 Jan 04.
Article
in English
| MEDLINE | ID: mdl-26481352
18.
[Intellectual disability: contribution of genetic studies to the etiological diagnosis]. / Handicap intellectuel : apport de la génétique pour le diagnostic étiologique.
Rev Med Suisse
; 14(619): 1666-1669, 2018 Sep 19.
Article
in French
| MEDLINE | ID: mdl-30230775
19.
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
Hum Mol Genet
; 24(10): 2771-83, 2015 May 15.
Article
in English
| MEDLINE | ID: mdl-25652408
20.
Severe congenital microcephaly with AP4M1 mutation, a case report.
BMC Med Genet
; 18(1): 48, 2017 05 02.
Article
in English
| MEDLINE | ID: mdl-28464862