Gabriele Richard

Gabriele Richard

    Gabriele Richard, MD, FACMG

    Medical Director


Gabriele Richard is the Medical Director at GeneDx. She is a Board-Certified PhD-Medical Geneticist with over 20 years of experience in molecular genetics and extensive research experience in genetic skin disorders. After earning her medical degree and board certification in Dermatology in Germany, she spent 5 years of post-doctoral research in molecular genetics at the National Institutes of Health. Until joining GeneDx in 2005, she was Associate Professor for Dermatology and Genetics at the Thomas Jefferson University (TJU) in Philadelphia, PA, where she also co-directed the Molecular Diagnostics Laboratory at the Department of Dermatology and Cutaneous Biology. Her research work has led to the discovery of many genes associated with genetic skin disorders and other conditions, and she has authored well over 100 papers, reviews, editorials and book chapters. Dr. Richard is a Fellow of the American College of Medical Genetics, has special expertise in genetic analysis for skin, hearing, eye and other rare disorders, and participates on several ClinGen Expert Groups.


Peer reviewed Research Publications, Selected

  1. Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A,Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2019 Sep 19. doi: 10.1038/s41436-019-0655-2. PubMed PMID: 31534211
  2. Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatar experience. Am J Med Genet A. 2019 Jun;179(6):927-935
  3. Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel. Genet Med 2018 Mar; 20(3):351-359.
  4. Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, McKnight DA, Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia 2018, May 59(5): 1062-1071.
  5. Valentin MN, Solomon BD, Richard G, Ferreira CR, Kirkorian AY. Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. Am J Med Genet A. 2018 Nov;176(11):2451-2455. 30289605.
  6. Lilly E, Bunick CG, Maley A, Zhang S, Spraker MK, Theos AJ, Vivar K, Vidal LS, Bennett AE, Rodriguez-Waitkus P, Sidbury R, Akiyama M, Binder B, Hadj-Rabia S, Craiglow BG, Choate KA, Richard G, Milstone LM. More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations. J Am Acad Dermatol. 2019 Mar;80(3):617-625
  7. Yates CL, Monaghan KG, Copenheaver D, Retterer K, Scuffins S, Kucera CR, Friedman B, Richard G, Juusola J. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. Genetics in Medicine. 2017, Oct 19(10): 1171-1178
  8. Zou F; McWalter K; Schmidt L, Decker A, Picker J, Lincoln S, Sweetser D, Briere L, Harini C, Undiagnosed Disease Network (UDN), Marsh E; Medne L, Wang R, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen K, van der Smagt J, Yousaf A,Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with severe phenotype. J Neurogenetics 2017 Mar-Jun; 31(1-2): 30-36.
  9. Stosser MB, Lindy AS, Butler E, Retterer K, Piccirillo-Stosser CM, Richard G, McKnight DA. High frequency of mosaic pathogenic variants in genes causing epilepsy related neurodevelopmental disorders. Genetics in Medicine. 2018 Apr;20(4):403-41
  10. Haga SB, Friedman B, Richard G. Considering the Benefits and Risks of Research Participants’ Access to Sequence Data. Genet Test Mol Biomarkers. 2017 Dec;21(12):717-721.
  11. Jeong HS, Funari T, Gordon K, Richard G, Agim NG. Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. Pediatr Dermatol. 2017 Sep;34(5):e245-e248. PMID: 28730607.
  12. Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F,Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J,Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM,Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016 Mar 17. doi:10.1038/gim.2016.18. PMID: 26986877.
  13. Yang H, G Douglas, KG Monaghan, K Retterer, MT Cho, L Escobar, M Tucker, J Stoler, D Stein, W Marks, G Enns, J Platt, P Wheeler, C Crain, A Calhoun, R Tryon, G Richard, P Vitazka, WK Chung. De novo truncating mutations in AT-hook DNA-binding motif-containing protein 1 (AHDC1) cause intellectual disability. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000562. doi: 10.1101/mcs.a000562. PMID 27148574
  14. Youssef MJ, Wolz MM, Harris MN, Richard G, Bridges AG, Wieland CN, Hand JL. Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. Int J Dermatol. 2016 Aug;55(8):e454-7. doi: 10.1111/ijd.13099. Epub 2015 Sep 4. PubMed PMID: 26341232.
  15. Arora S, Haverfield E, Richard G, Haga SB, Mills R. Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing. J Genet Couns. 2016 Apr;25(2):337-43. doi: 10.1007/s10897-015-9876-y. Epub 2015 Aug 19. PubMed PMID: 26283062.
  16. Kyle Retterer, Jane Juusola, Megan Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino Bell, Nizar Smaoui, Julie Neidich, Kristin Monaghan, Dianalee McKnight, Renkui Bai, Sharon Suchy, Bethany Friedman, Jackie Tahiliani, Daniel Pineda-Alvarez, Gabriele Richard, Tracy Brand, Eden Haverfield, Wendy K. Chung, Sherri Bale. Clinical Application of Whole Exome Sequencing Across Clinical Indications. Genet Med. 2015 Dec 3. doi: 10.1038/gim.2015.148.
  17. Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK. Pathogenic and Likely Pathogenic Variant Prevalence among the First 10,000 Patients Referred for Next Generation Cancer Panel Testing. Genet Med. 2015 Dec 17. doi: 10.1038/gim.2015.166

Review Articles

  1. Richard G. Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [Updated 2017 May 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews(r) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from:
  2. Jouni Uitto, Gabriele Richard, John McGrath.. Diseases of epidermal keratins and their linker proteins. Exp Cell Res. 2007 Jun 10;313(10):1995-2009, 2007
  3. Mese G, Richard G, White TW. Gap Junctions: Basic Structure and Function. J Invest Dermatol, in press, 2007.
  4. G. Richard. Erythrokeratodermia Variabilis: An Update on Clinics and Genetics. G Ital Dermatol Venereol, 140, 2005.
  5. J. Uitto and G. Richard. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. In: ‘Molecular Genetics in Dermatology’. G. Richard (ed). Clin Dermatol, 23:33-40, 2005.
  6. G. Richard. Connexin Disorders of the Skin. In: ‘Molecular Genetics in Dermatology’. G. Richard (ed). Clinics in Dermatology, 23:23-32, 2005
  7. J. Uitto and G. Richard. Progress in epidermolysis bullosa: Genetic classification and clinical implications. In: Genetic Disorders of the Skin. Der Kaloustian & Happle (eds), Am J Med Genet (Semin Med Genet) 131C:61-74, 2004.
  8. G. Richard. Molecular genetics of the ichthyoses. In: Genetic Disorders of the Skin. Der Kaloustian and Happle (eds), Am J Med Genet (Semin Med Genet) 131C:32-44, 2004.
  9. G. Richard. Connexin gene pathology. Clin Exp Dermatol 28 (4):397-409, 2003
  10. G. Richard. Connexin disorders of the skin. In: Advances in Dermatology 17: 243-277, 2001. Eds. WD James, CJ Cockerell, LM Dzubow, AS Paller, KB Yancey. Mosby-Year BookInc.
  11. G. Richard. Connexins: A connection with the skin. Exp Dermatol 9(2): 77-96, 2000

Book Chapters

  1. G. Richard & F. Ringpfeil. Ichthyoses, erythrokeratodermas and related disorders. In: Dermatology. 4th edition. J.L. Bolognia, J.V. Shaffer, L. Cerroni (eds), Elsevier, 2017
  2. G. Richard. Erythrokeratodermias. In: Treatment of Skin Disease. Comprehensive therapeutic strategies. 5th edition. M. Lebwohl, W. Haymann, J Berth-Jones, I. Coulson (eds), Elsevier, 2017.
  3. G. Richard. EKV. In: Genodermatoses. 3rd edition, J. Spitz (ed) Lippincott Williams & Wilkins, 2012
  4. G. Richard. Ichthyosis and disorders of keratinization. In: Pediatric Dermatology. 4th edition. Schachner & Hansen (eds), Mosby/Elsevier, Philadelphia, PA, 2010
  5. J. Uitto, G. Richard and A. Christiano. Epidermolysis Bullosa. In: Principles of Molecular Medicine. 2nd edition. MS Runge & C Patterson (eds), Humana Press, Totowa, NJ, 2006.
  6. G. Richard. Human connexins in skin development and skin disorders. In: Gap Junctions in Development and Disease. 1st edition. Elke Winterhager (ed), Springer, Berlin, 2005. pp135-72.
  7. G. Richard. Disorders of Cornification. In: ‘Inherited hair disorders’. E. Sprecher (ed), Nova Science Publishers, Inc., 2005.
  8. G. Richard and J. Uitto. Inherited Skin disease. In: Enzyclopedic Reference of Genomics and Proteomics in Molecular Medicine. D. Ganten & K. Ruckpaul (eds) Springer International, 2005.