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Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2773-2777

2020

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Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1223-1229

2020

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Review and update on the molecular basis of Leber congenital amaurosis

World journal of clinical cases, 2015-02, Vol.3 (2), p.112-124

2015

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PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

Clinical & experimental ophthalmology, 2017-12, Vol.45 (9), p.875-883

2017

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Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.n/a

2020

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ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation

Experimental eye research, 2013-04, Vol.109, p.77-82

2013

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Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e625-n/a

2019

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Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus

Gene, 2019-07, Vol.706, p.62-68

2019

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Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1934-1937

2016

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Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2710-2719

2018

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The clinical implications of molecular monitoring and analyses of inherited retinal diseases

Expert review of molecular diagnostics, 2017-11, Vol.17 (11), p.1009-1021

2017

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Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Journal of human genetics, 2018-11, Vol.63 (11), p.1169-1180

2018

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TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1635-1638

2016

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SOX2 anophthalmia syndrome and dental anomalies

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2830-2833

2015

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Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis

The American journal of case reports, 2019-10, Vol.20, p.1566-1571

2019

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USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients

Molecular vision, 2023, Vol.29, p.31-38

2023

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Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome

American journal of medical genetics. Part A, 2011-07, Vol.155 (7), p.1716-1720

2011

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Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes

Graefe's archive for clinical and experimental ophthalmology, 2023-02, Vol.261 (2), p.353-365

2023

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Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.282-286

2015

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Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100533, Article 100533

2019

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A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers

International ophthalmology, 2023-03, Vol.43 (3), p.807-815

2023

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TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families

American journal of medical genetics. Part A, 2024-06, p.e63716-e63716

2024

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Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature

Cornea, 2018-09, Vol.37 (9), p.1178

2018

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Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females

Ophthalmic genetics, 2022-04, Vol.43 (2), p.224-229

2022

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Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome

European journal of medical genetics, 2020-05, Vol.63 (5), p.103877-103877, Article 103877

2020

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Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

Review and update on the molecular basis of Leber congenital amaurosis

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

The clinical implications of molecular monitoring and analyses of inherited retinal diseases

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes

SOX2 anophthalmia syndrome and dental anomalies

Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients

Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome

Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes

Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers

TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families

Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature

Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome

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