Monika Weisz-Hubshman, MD, PhD

Personal Statement

As a physician-scientist, I am dedicated to providing care to families with rare genetic disorders.  As a clinician, I believe that it is vital to provide genetic evaluation, diagnosis and counseling to families under our care. As a researcher, I am focused on discovering the genetic basis of rare disorders as well as understanding their underlying mechanism in order to develop new therapies and treatments.

Clinical Interests

Undiagnosed rare genetic disorders

Research Interests 

Cartilage and bone disorders; neurodevelopmental disorders

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* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Monika Weisz-Hubshman, Adetutu T. Egunsula, Brian Dawson, Alexis Castellon, Ming-Ming Jiang, Yuqing Chen-Evenson, Yu Zhiyin, Brendan Lee and Yangjin Bae. DDRGK1 is required for the proper development and maintenance of the growth plate cartilage. Human Molecular Genetics 2022 April

Machol K, Polak U, Weisz-Hubshman M, Song IW, Chen S, Jiang MM, Chen-Evenson Y, Weis MAE, Keene DR, Eyre DR, Lee BH. Molecular alterations due to Col5a1 Haploinsufficiency in a mouse model of classic Ehlers Danlos syndrome. Human Molecular Genetics 2021 Nov.5S

Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M.M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M.J. Boon, Lina Basel-Salmon, Osnat Konen, Hadassa Goldberg-Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria Scarano, G. Bradley Schaefer, Susan S. Brooks, Susan Starling Hughes, K.L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau and Xiang-Jiao Yan. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. Journal of Clinical Investigation 2020 Feb 4

Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G. Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. European Journal Paediatric Neurology. 2019 May;23(3):418-426.

Weisz Hubshman M, Broekman S, van Wijk E, Cremers F, Abu-Diab A, Khateb S, Tzur S,Lagovsky I, Smirin-Yosef P, Sharon D, Haer-Wigman L, Banin E, Basel-Vanagaite L, de Vrieze E. Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Human Molecular Genetics. 2018 Feb 15;27(4):614-624

Weisz Hubshman M, Basel-Vanagaite J, Krauss A, Konen O, Levy Y, Garty BZ, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D,Shichrur D, Avigad S, Hayman Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I and Stein J. Homozygous Deletion of RAG1, RAG2 and 5’ region TRAF6 Causes Severe Immune Suppression and Atypical Osteopetrosis. Clinical Genetics. 2016 Nov 3