Publications by authors named "Gabriele Richard"

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Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.
Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley McMinn, Gabriele Richard

Am J Med Genet A· January 2026

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Axenfeld-Rieger syndrome: more than meets the eye.
Linda M Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Gabriele Richard

J Med Genet· April 2023

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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Robert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, Tiffiney R Hartman, Christopher Griffith, Gabriele Richard

Hum Mutat· December 2022

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Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Douglas Ralph, Michael A Levine, Gabriele Richard, Michelle M Morrow, Elizabeth K Flynn

Hum Mutat· September 2022

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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Gabriele Richard, Richard G Weleber

PLoS Genet· October 2021

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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Renkui Bai, Hong Cui, Joseph M Devaney, Katrina M Allis, Amanda M Balog, Gabriele Richard

Genet Med· August 2021

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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Ana Morales, Alexander Ing, Christian Antolik, Christina Austin-Tse, Linnea M Baudhuin, Gabriele Richard

J Mol Diagn· May 2021

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Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Gabriele Richard

Genet Med· March 2020

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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Gabriele Richard

Genet Med· February 2020

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Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome.
April Zhang, Sabine Duchatelet, Nikita Lakdawala, Richard L Tower, Carrie Diamond, Gabriele Richard

JAMA Dermatol· February 2020

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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Nader Al-Dewik, Howaida Mohd, Mariam Al-Mureikhi, Rehab Ali, Fatma Al-Mesaifri, Gabriele Richard

Am J Med Genet A· June 2019

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More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
Evelyn Lilly, Christopher G Bunick, Alexander M Maley, Shali Zhang, Mary K Spraker, Gabriele Richard

J Am Acad Dermatol· March 2019

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Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.
Monica N Valentin, Benjamin D Solomon, Gabriele Richard, Carlos R Ferreira, Anna Yasmine Kirkorian

Am J Med Genet A· November 2018

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Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Amanda S Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain-Pickersgill, Anita Shanmugham, Gabriele Richard

Epilepsia· May 2018

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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard

Genet Med· April 2018

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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D Picker, Gabriele Richard

J Neurogenet· March 2018

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Gabriele Richard

Genet Med· March 2018

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Considering the Benefits and Risks of Research Participants' Access to Sequence Data.
Susanne B Haga, Bethany Friedman, Gabriele Richard

Genet Test Mol Biomarkers· December 2017

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Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Gabriele Richard

Genet Med· October 2017

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Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.
Haneol S Jeong, Tara Funari, Katherine Gordon, Gabriele Richard, Nnenna G Agim

Pediatr Dermatol· September 2017

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CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, Gabriele Richard

Genet Med· August 2017

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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, Gabriele Richard

Genet Med· November 2016

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Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report.
Andac Salman, Dilek Seckin Gencosmanoglu, Ayse Deniz Yucelten, Nursel Elcioglu, Gabriele Richard

Dermatol Online J· May 2016

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Hui Yang, Ganka Douglas, Kristin G Monaghan, Kyle Retterer, Megan T Cho, Gabriele Richard

Cold Spring Harb Mol Case Stud· October 2015

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