Search details
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36368327
2.
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
Am J Med Genet A
; 194(5): e63542, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38234180
3.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Article
in English
| MEDLINE | ID: mdl-35882526
4.
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Hum Mol Genet
; 30(17): 1591-1606, 2021 08 12.
Article
in English
| MEDLINE | ID: mdl-34046667
5.
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Am J Hum Genet
; 105(2): 425-433, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31327510
6.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35341651
7.
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Am J Med Genet A
; 188(1): 187-198, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34562068
8.
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Hum Mutat
; 42(7): 877-890, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33973683
9.
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Hum Genet
; 140(12): 1775-1789, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34642815
10.
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Clin Genet
; 99(3): 437-442, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33314030
11.
PITX2 deficiency and associated human disease: insights from the zebrafish model.
Hum Mol Genet
; 27(10): 1675-1695, 2018 05 15.
Article
in English
| MEDLINE | ID: mdl-29506241
12.
Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
Clin Genet
; 98(5): 486-492, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32729136
13.
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
Clin Genet
; 97(3): 502-508, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31650526
14.
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Hum Genet
; 138(8-9): 847-863, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-30187164
15.
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
PLoS Genet
; 11(2): e1005002, 2015.
Article
in English
| MEDLINE | ID: mdl-25719200
16.
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.
Hum Mutat
; 38(11): 1485-1490, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28722276
17.
Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
BMC Med Genet
; 17(1): 64, 2016 Sep 08.
Article
in English
| MEDLINE | ID: mdl-27609212
18.
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Mol Vis
; 22: 1229-1238, 2016.
Article
in English
| MEDLINE | ID: mdl-27777502
19.
8q21.11 microdeletion in two patients with syndromic peters anomaly.
Am J Med Genet A
; 170(9): 2471-5, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27378168
20.
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
Birth Defects Res C Embryo Today
; 105(2): 96-113, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-26046913