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Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease

American Journal of Medical Genetics Part A
2025-03 | Journal article
DOI: 10.1002/ajmg.a.63911
Contributors: Linda M. Reis; Gerald W. Zaidman; Samuel Thompson; Sanaa Muheisen; Tom Glaser; Elena V. Semina
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Displacement of distant regulatory elements of FOXC1 as a potential human disease mechanism

Human Genomics
2025-03-29 | Journal article
DOI: 10.1186/s40246-025-00735-8
Contributors: Jesús-José Ferre-Fernández; Linda M. Reis; Elena V. Semina
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Crossref

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease

Genes
2024-12-20 | Journal article
DOI: 10.3390/genes15121636
Contributors: Linda M. Reis; Donald Basel; Pierre Bitoun; David S. Walton; Tom Glaser; Elena V. Semina
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Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

Genes
2023-10-17 | Journal article
DOI: 10.3390/genes14101948
Contributors: Linda M. Reis; David J. Amor; Raad A. Haddad; Catherine B. Nowak; Kim M. Keppler-Noreuil; Smith Ann Chisholm; Elena V. Semina
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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

European journal of human genetics : EJHG
2023-08-30 | Journal article | Author
DOI: 10.1038/s41431-023-01445-2
PMID: 37644171
PMC: PMC10620399
Contributors: Henry Oppermann; Elia Marcos-Grañeda; Weiss LA; Gurnett CA; Anne Marie Jelsig; Vineke SH; Isidor B; Mercier S; Magnussen K; Pia Zacher et al.
Source: Self-asserted source
Linda Reis

Axenfeld-Rieger syndrome: more than meets the eye

Journal of Medical Genetics
2023-04 | Journal article
DOI: 10.1136/jmg-2022-108646
Contributors: Linda M. Reis; Mohit Maheshwari; Jenina Capasso; Huban Atilla; Lubica Dudakova; Samuel Thompson; Lia Zitano; Guillermo Lay-Son; R. Brian Lowry; Jennifer Black et al.
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ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

European Journal of Human Genetics
2023-03 | Journal article
DOI: 10.1038/s41431-022-01246-z
Contributors: Linda M. Reis; Nicolas Chassaing; Tanya Bardakjian; Samuel Thompson; Adele Schneider; Elena V. Semina
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Crossref

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease

Genes
2023-01-14 | Journal article
DOI: 10.3390/genes14010216
Contributors: Linda M. Reis; Huban Atilla; Peter Kannu; Adele Schneider; Samuel Thompson; Tanya Bardakjian; Elena V. Semina
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

American journal of human genetics
2022-11-10 | Journal article
DOI: 10.1016/j.ajhg.2022.10.007
PMID: 36368327
PMC: PMC9748253
Contributors: Hijazi H; Reis LM; Pehlivan D; Bernstein JA; Muriello M; Syverson E; Bonner D; Estiar MA; Gan-Or Z; Rouleau GA et al.
Source: Self-asserted source
Linda Reis

Novel Genetic Diagnoses in Septo-Optic Dysplasia.

Genes
2022-06-28 | Journal article | Author
DOI: 10.3390/genes13071165
PMID: 35885948
PMC: PMC9320703
Contributors: Linda Reis; Seese S; Maheshwari M; Basel D; Weik L; McCarrier J; University Of Washington Center For Mendelian Genomics; Elena Semina
Source: Self-asserted source
Linda Reis
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Genetics in medicine : official journal of the American College of Medical Genetics
2022-03-24 | Journal article
DOI: 10.1016/j.gim.2022.02.013
PMID: 35341651
PMC: PMC9245088
Contributors: Al-Jawahiri, R.; Foroutan A; Kerkhof J; McConkey H; Levy M; Haghshenas S; Rooney K; Jasmin E Turner; Shears D; Holder M et al.
Source: Self-asserted source
Linda Reis

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.

Human genetics
2021-10-12 | Journal article
DOI: 10.1007/s00439-021-02384-y
PMID: 34642815
Source: Self-asserted source
Linda Reis

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

American journal of medical genetics. Part A
2021-09-25 | Journal article
DOI: 10.1002/ajmg.a.62518
PMID: 34562068
Source: Self-asserted source
Linda Reis

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Human molecular genetics
2021-08-01 | Journal article
DOI: 10.1093/hmg/ddab142
PMID: 34046667
PMC: PMC8369840
Source: Self-asserted source
Linda Reis

Identification of missense MAB21L1 variants in microphthalmia and aniridia.

Human mutation
2021-05-24 | Journal article
DOI: 10.1002/humu.24218
PMID: 33973683
PMC: PMC8238893
Source: Self-asserted source
Linda Reis

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

Clinical genetics
2020-12-16 | Journal article
DOI: 10.1111/cge.13897
PMID: 33314030
PMC: PMC8259391
Contributors: Reis LM; Costakos D; Wheeler PG; Bardakjian T; Schneider A; Fung SSM; University of Washington Center for Mendelian Genomics; Elena Semina
Source: Self-asserted source
Linda Reis

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Clinical genetics
2020-08-17 | Journal article
DOI: 10.1111/cge.13824
PMID: 32729136
PMC: PMC8341436
Source: Self-asserted source
Linda Reis

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.

Clinical genetics
2019-11-10 | Journal article
DOI: 10.1111/cge.13660
PMID: 31650526
PMC: PMC7028510
Source: Self-asserted source
Linda Reis

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

American journal of human genetics
2019-07-18 | Journal article
DOI: 10.1016/j.ajhg.2019.06.015
PMID: 31327510
PMC: PMC6698968
Source: Self-asserted source
Linda Reis
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Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

Human genetics
2018-09-05 | Journal article
DOI: 10.1007/s00439-018-1932-x
PMID: 30187164
PMC: PMC6401332
Source: Self-asserted source
Linda Reis

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Human molecular genetics
2018-05-01 | Journal article
DOI: 10.1093/hmg/ddy074
PMID: 29506241
PMC: PMC5932568
Source: Self-asserted source
Linda Reis

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.

Human mutation
2017-08-01 | Journal article
DOI: 10.1002/humu.23299
PMID: 28722276
PMC: PMC5638704
Source: Self-asserted source
Linda Reis

PITX2 and PITX3: Axenfeld- Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment.

Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
2016 | Book chapter
Source: Self-asserted source
Linda Reis

Analysis of <i>CYP1B1</i> in pediatric and adult glaucoma and other ocular phenotypes.

Molecular vision
2016-10-17 | Journal article
PMID: 27777502
PMC: PMC5070572
Source: Self-asserted source
Linda Reis

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 medical genetics
2016-09-08 | Journal article
DOI: 10.1186/s12881-016-0316-0
PMID: 27609212
PMC: PMC5016880
Source: Self-asserted source
Linda Reis

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Clinical genetics
2016-07-12 | Journal article
DOI: 10.1111/cge.12816
PMID: 27272408
PMC: PMC5295561
Source: Self-asserted source
Linda Reis

8q21.11 microdeletion in two patients with syndromic peters anomaly.

American journal of medical genetics. Part A
2016-07-05 | Journal article
DOI: 10.1002/ajmg.a.37840
PMID: 27378168
PMC: PMC5119633
Source: Self-asserted source
Linda Reis

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

European journal of human genetics : EJHG
2015-07-01 | Journal article
DOI: 10.1038/ejhg.2015.155
PMID: 26130484
PMC: PMC4929874
Source: Self-asserted source
Linda Reis

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

Birth defects research. Part A, Clinical and molecular teratology
2015-06-27 | Journal article
DOI: 10.1002/bdra.23397
PMID: 26118977
PMC: PMC4487781
Source: Self-asserted source
Linda Reis

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

Birth defects research. Part C, Embryo today : reviews
2015-06-03 | Journal article
DOI: 10.1002/bdrc.21097
PMID: 26046913
PMC: PMC5193115
Source: Self-asserted source
Linda Reis

Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.

Molecular genetics & genomic medicine
2015-06-02 | Journal article
DOI: 10.1002/mgg3.159
PMID: 26740941
PMC: PMC4694134
Source: Self-asserted source
Linda Reis
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Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

PLoS genetics
2015-02-26 | Journal article
DOI: 10.1371/journal.pgen.1005002
PMID: 25719200
PMC: PMC4342166
Source: Self-asserted source
Linda Reis

Whole exome sequence analysis of Peters anomaly.

Human genetics
2014-09-03 | Journal article
DOI: 10.1007/s00439-014-1481-x
PMID: 25182519
PMC: PMC4395516
Source: Self-asserted source
Linda Reis

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.

Molecular vision
2014-06-13 | Journal article
PMID: 24940039
PMC: PMC4057250
Source: Self-asserted source
Linda Reis
grade
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Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Clinical genetics
2014-04-12 | Journal article
DOI: 10.1111/cge.12379
PMID: 24628545
PMC: PMC4163542
Source: Self-asserted source
Linda Reis

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Clinical genetics
2013-09-17 | Journal article
DOI: 10.1111/cge.12241
PMID: 23889335
PMC: PMC4103962
Source: Self-asserted source
Linda Reis

A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

Ophthalmic genetics
2013-09-11 | Journal article
DOI: 10.3109/13816810.2013.835432
PMID: 24024747
PMC: PMC4092044
Source: Self-asserted source
Linda Reis

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Clinical genetics
2013-06-17 | Journal article
DOI: 10.1111/cge.12202
PMID: 23701296
PMC: PMC3985344
Source: Self-asserted source
Linda Reis

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Human genetics
2013-03-19 | Journal article
DOI: 10.1007/s00439-013-1289-0
PMID: 23508780
PMC: PMC3683360
Source: Self-asserted source
Linda Reis

Analysis of FOXD3 sequence variation in human ocular disease.

Molecular vision
2012-06-27 | Journal article
PMID: 22815627
PMC: PMC3398501
Source: Self-asserted source
Linda Reis

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

European journal of human genetics : EJHG
2012-05-09 | Journal article
DOI: 10.1038/ejhg.2012.80
PMID: 22569110
PMC: PMC3499749
Source: Self-asserted source
Linda Reis

VSX2 mutations in autosomal recessive microphthalmia.

Molecular vision
2011-09-28 | Journal article
PMID: 21976963
PMC: PMC3185030
Source: Self-asserted source
Linda Reis

Genetics of anterior segment dysgenesis disorders.

Current opinion in ophthalmology
2011-09-01 | Journal article
DOI: 10.1097/icu.0b013e328349412b
PMID: 21730847
PMC: PMC3558283
Source: Self-asserted source
Linda Reis

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

Investigative ophthalmology & visual science
2011-03-18 | Journal article
DOI: 10.1167/iovs.10-6060
PMID: 20881290
PMC: PMC3101680
Source: Self-asserted source
Linda Reis

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Human genetics
2011-02-22 | Journal article
DOI: 10.1007/s00439-011-0968-y
PMID: 21340693
PMC: PMC3178759
Source: Self-asserted source
Linda Reis

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.

Clinical genetics
2011-02-01 | Journal article
DOI: 10.1111/j.1399-0004.2010.01450.x
PMID: 20486942
PMC: PMC3017659
Source: Self-asserted source
Linda Reis

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Molecular vision
2010-08-22 | Journal article
PMID: 20806047
PMC: PMC2927439
Source: Self-asserted source
Linda Reis

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.

Molecular vision
2010-04-28 | Journal article
PMID: 20454695
PMC: PMC2862242
Source: Self-asserted source
Linda Reis

FOXE3 plays a significant role in autosomal recessive microphthalmia.

American journal of medical genetics. Part A
2010-03-01 | Journal article
DOI: 10.1002/ajmg.a.33257
PMID: 20140963
PMC: PMC2998041
Source: Self-asserted source
Linda Reis

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

American journal of medical genetics. Part A
2009-12-01 | Journal article
DOI: 10.1002/ajmg.a.33098
PMID: 19921648
PMC: PMC2787970
Source: Self-asserted source
Linda Reis
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Peer review (3 reviews for 3 publications/grants)

Review activity for American journal of ophthalmology. (1)
Review activity for BMC ophthalmology (1)
Review activity for Progress in retinal and eye research. (1)
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