Search details
1.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Article
in English
| MEDLINE | ID: mdl-35397207
2.
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
Hum Mol Genet
; 31(14): 2295-2306, 2022 07 21.
Article
in English
| MEDLINE | ID: mdl-35137054
3.
Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation.
Cell
; 139(6): 1130-42, 2009 Dec 11.
Article
in English
| MEDLINE | ID: mdl-20005806
4.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Genet Med
; 20(6): 614-621, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29309402
5.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Hum Mol Genet
; 22(11): 2177-85, 2013 Jun 01.
Article
in English
| MEDLINE | ID: mdl-23418306
6.
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Hum Mutat
; 35(5): 565-70, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24616153
7.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat
; 35(10): 1153-62, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25044745
8.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol
; 29(8): 1451-6, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24504730
9.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Hum Mutat
; 34(5): 714-24, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23418020
10.
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PLoS One
; 13(12): e0207958, 2018.
Article
in English
| MEDLINE | ID: mdl-30543658
11.
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Sci Rep
; 8(1): 4824, 2018 03 19.
Article
in English
| MEDLINE | ID: mdl-29555955
12.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Mol Genet Genomic Med
; 5(5): 531-552, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28944237
13.
The nonviral episomal replicating vector pEPI-1 allows long-term inhibition of bcr-abl expression by shRNA.
Hum Gene Ther
; 16(4): 533-9, 2005 Apr.
Article
in English
| MEDLINE | ID: mdl-15871685
14.
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
Br J Ophthalmol
; 99(4): 488-92, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25342276
15.
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Br J Ophthalmol
; 99(12): 1725-31, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26294103
16.
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PLoS One
; 10(2): e0116680, 2015.
Article
in English
| MEDLINE | ID: mdl-25646624
17.
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Orphanet J Rare Dis
; 10: 15, 2015 Feb 10.
Article
in English
| MEDLINE | ID: mdl-25759012
18.
The RPGRIP1-related retinal phenotype in children.
Br J Ophthalmol
; 97(6): 760-4, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23505306
19.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS One
; 8(11): e78496, 2013.
Article
in English
| MEDLINE | ID: mdl-24265693
20.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Nat Genet
; 45(8): 951-6, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23793029