Keren Machol, MD, PhD
As a pediatrician and a geneticist, my overall mission is to diagnose genetic conditions and enhance comprehensive care for individuals with rare disorders. At the clinic I am involved in diagnosing and management of individuals with wide range of genetic conditions including skeletal dysplasias such as osteogenesis imperfecta. My research interest is focused on connective tissue disorders, characterizing the molecular basis of diseases in attempt to identify novel therapeutic approaches.
Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM, Undiagnosed Diseases Network, Dhar SU. Atypical Alexander Disease with Dystonia, Retinopathy, and a Brain Mass Mimicking Astrocytoma. Neurol Genet. 2018 Jul 20;4(4):e248.
Machol K, Roberto Mendoza-Londono, and Brendan Lee. Cleidocranial Dysplasia Spectrum Disorder – GeneReviews 2017.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A: 2017 Mar;173(3):733-739.
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