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1.
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Proc Natl Acad Sci U S A
; 120(21): e2302584120, 2023 05 23.
Article
in English
| MEDLINE | ID: mdl-37186866
2.
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
Hum Mol Genet
; 31(10): 1574-1587, 2022 05 19.
Article
in English
| MEDLINE | ID: mdl-34964473
3.
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure.
Ann Hum Genet
; 88(1): 45-57, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37771269
4.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
J Med Genet
; 59(8): 737-747, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34716235
5.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
J Med Genet
; 59(12): 1151-1164, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35764379
6.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
; 28: 57-69, 2022.
Article
in English
| MEDLINE | ID: mdl-35693420
7.
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.
J Med Genet
; 58(5): 334-341, 2021 05.
Article
in English
| MEDLINE | ID: mdl-32571899
8.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29228333
9.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100095
10.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31949313
11.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32203228
12.
Cilia function and dysfunction.
Ann Hum Genet
; 88(1): 1-3, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37997475
13.
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
Am J Hum Genet
; 99(4): 984-990, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27693231
14.
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Am J Hum Genet
; 98(4): 615-26, 2016 Apr 07.
Article
in English
| MEDLINE | ID: mdl-26996948
15.
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Am J Hum Genet
; 99(3): 674-682, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27523597
16.
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Am J Hum Genet
; 97(6): 878-85, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26626625
17.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
Am J Hum Genet
; 96(6): 948-54, 2015 Jun 04.
Article
in English
| MEDLINE | ID: mdl-25983245
18.
Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma.
Int J Gynecol Cancer
; 28(8): 1535-1544, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30095490
19.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet
; 54(6): 371-380, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28289185
20.
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
Am J Med Genet C Semin Med Genet
; 190(1): 5-8, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35289502