GabrieleRichardMD

PubMed

• 4 citations
  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, Jouni Uitto, Qiaoli Li> ;Human Mutation. 2022 Sep 1
• 22 citations
  Axenfeld-Rieger syndrome: more than meets the eye.
  Linda M Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R Brian Lowry, Jennifer Black, Joseph Le...> ;Journal of Medical Genetics. 2023 Apr 1
• 1 citations
  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, Jennifer L Morrison, Patricia G Wheeler, Erin Torti, Gabriele R...> ;Human Mutation. 2022 Dec 1
• 8 citations
  Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
  Pooja Biswas, Adda Villanueva, Angel Soto-Hermida, Jacque L. Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y. Khan, Kari Branham...> ;Plos Genetics. 2021 Oct 18
• 3 citations
  Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from t...
  Ana Morales, Alexander Ing, Christian Antolik, Christina Austin-Tse, Linnea M. Baudhuin, Lucas Bronicki, Allison L. Cirino, Megan H. Hawley, Michael Fietz, John Garcia...> ;The Journal of Molecular Diagnostics. 2021 May 1
• 9 citations
  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 Balog, Xinyue Liu, Rhonda E. Schnur, Faye L. Shapiro, Ariel Brautbar, Juvianee I. Estrada-Veras, Laur...> ;Genetics in Medicine. 2021 Apr 12
• 3 citations
  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, Hong Cui, Hua Gao, Lora J. H. Bean, Arunkanth Ankala, Daniela del Gaudio, Amy K. Johnson, Lisa M. Vi...> ;Genetics in Medicine. 2020 Mar 1
• 71 citations
  Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
  Tracy Brandt, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora J. H. Bean, Arunkanth Ankala, Daniela del Gaudio, Amy K. Johnson, Lisa M. Vi...> ;Genetics in Medicine. 2020 Feb 1
• 30 citations
  Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
  Nader Al-Dewik, Howaida Mohd, Mariam Almureikhi, Rehab Ali, Fatma Al-Mesaifri, Laila Mahmoud, Noora Shahbeck, Karen El-Akouri, Mariam Al-Mulla, Reem Al Sulaiman, Sara ...> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 24 citations
  More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
  Evelyn Lilly, Christopher G. Bunick, Alexander Maley, Shali Zhang, Mary K. Spraker, Amy Theos, Karina L. Vivar, Lucia Seminario-Vidal, Adam E. Bennett, Robert Sidbury,...> ;Journal of the American Academy of Dermatology. 2019 Mar 1
• 7 citations
  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 Ferreira, Anna Yasmine Kirkorian> ;American Journal of Medical Genetics. Part A. 2018 Nov 1
• 181 citations
  Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
  Amanda Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee McKnight> ;Epilepsia. 2018 May 1
• 219 citations
  Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardi...
  Melissa A. Kelly, Colleen Caleshu, Ana Morales, Jillian G. Buchan, Zena T. Wolf, Steven M. Harrison, Stuart A. Cook, Mitchell W Dillon, John Garcia, Eden Haverfield, J...> ;Genetics in Medicine. 2018 Jan 4
• Considering the Benefits and Risks of Research Participants' Access to Sequence Data.
  Susanne B. Haga, Bethany Friedman, Gabriele Richard> ;Genetic Testing and Molecular Biomarkers. 2017 Dec 1
• 112 citations
  High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
  Mary Beth Stosser, Amanda Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee McKnight> ;Genetics in Medicine. 2018 Apr 1
• 9 citations
  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, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timot...> ;Genetics in Medicine. 2017 Aug 1
• 105 citations
  Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
  Carin Yates, Kristin G. Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola> ;Genetics in Medicine. 2017 Apr 20
• 11 citations
  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 Picker, Sharyn A. Lincoln, David A. Sweetser, Lauren C. Briere, Chellamani Harini, Eric D. Marsh, ...> ;Journal of Neurogenetics. 2017 May 2
• 14 citations
  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, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy M...> ;Genetics in Medicine. 2016 Nov 1
• 672 citations
  Clinical application of whole-exome sequencing across clinical indications.
  Kyle Retterer, Jane Juusola, Megan T. Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G. Monaghan...> ;Genetics in Medicine. 2016 Jul 1
• 24 citations
  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...
  Hui Yang, Ganka Douglas, Kristin G. Monaghan, Kyle Retterer, Megan T. Cho, Luis F. Escobar, Megan Tucker, Joan M. Stoler, Lance H. Rodan, Diane Stein, Warren Marks, Gr...> ;Cold Spring Harbor Molecular Case Studies. 2015 Oct 1
• 14 citations
  Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing
  Shubhangi Arora, Eden Haverfield, Gabriele Richard, Susanne B. Haga, Rachel Mills> ;Journal of Genetic Counseling. 2016 Apr 1
• 2 citations
  Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.
  Gabriele Richard, Keith A. Choate, Leonard M. Milstone, Sherri J. Bale> ;Dermatologic Therapy. 2013 Jan 1
• 40 citations
  Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
  Swaroop Aradhya, Rachel Lewis, Tahrra Bonaga, Nnenna Nwokekeh, Amanda Stafford, Barbara Boggs, Kathleen S. Hruska, Nizar Smaoui, John G. Compton, Gabriele Richard, Sha...> ;Genetics in Medicine. 2012 Mar 1
• 19 citations
  Large contiguous gene deletions in Sjögren-Larsson syndrome.
  Holly Engelstad, Gael Carney, Dana S'aulis, Janae Rise, Warren G. Sanger, M. Katharine Rudd, Gabriele Richard, Omar A. Abdul-Rahman, William B. Rizzo> ;Molecular Genetics and Metabolism. 2011 Nov 1
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