Search details
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Article
in English
| MEDLINE | ID: mdl-22863007
2.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Article
in English
| MEDLINE | ID: mdl-36965478
3.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32553196
4.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35506430
5.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Am J Med Genet A
; 185(4): 1195-1203, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33421337
6.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Article
in English
| MEDLINE | ID: mdl-28132690
7.
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
J Med Genet
; 54(9): 624-632, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28442542
8.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24183451
9.
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Am J Med Genet A
; 170(6): 1566-9, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26892345
10.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Am J Hum Genet
; 90(5): 864-70, 2012 May 04.
Article
in English
| MEDLINE | ID: mdl-22503633
11.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Am J Hum Genet
; 89(5): 634-43, 2011 Nov 11.
Article
in English
| MEDLINE | ID: mdl-22019273
12.
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Am J Med Genet A
; 164A(7): 1627-34, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24677454
13.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
; 50(5): 309-23, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23456818
14.
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Eur J Hum Genet
; 2024 May 28.
Article
in English
| MEDLINE | ID: mdl-38806661
15.
Geometry sensing by dendritic cells dictates spatial organization and PGE(2)-induced dissolution of podosomes.
Cell Mol Life Sci
; 69(11): 1889-901, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22204022
16.
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Front Mol Biosci
; 10: 1285790, 2023.
Article
in English
| MEDLINE | ID: mdl-38161384
17.
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Front Neurol
; 14: 1206106, 2023.
Article
in English
| MEDLINE | ID: mdl-37560457
18.
TLR4-mediated podosome loss discriminates gram-negative from gram-positive bacteria in their capacity to induce dendritic cell migration and maturation.
J Immunol
; 184(3): 1280-91, 2010 Feb 01.
Article
in English
| MEDLINE | ID: mdl-20038642
19.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
J Med Genet
; 48(6): 390-5, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21378380
20.
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Front Genet
; 13: 931822, 2022.
Article
in English
| MEDLINE | ID: mdl-35873489