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KEREN MACHOL

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 01; 6(4):eaax0021. PMID: 32010779.
      View in: PubMed
    2. Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Nagamani SCS, Raggio C. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704. PMID: 31876392.
      View in: PubMed
    3. Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A, Klee EW, Lefebvre V, Clark KJ, Depienne C. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 Mar; 22(3):524-537. PMID: 31578471.
      View in: PubMed
    4. Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Campeau PM. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 01 03; 104(1):164-178. PMID: 30580808.
      View in: PubMed
    5. 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, Dhar SU. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. Neurol Genet. 2018 Aug; 4(4):e248. PMID: 30046660.
      View in: PubMed
    6. 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. PMID: 27888646.
      View in: PubMed
    7. Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am J Hum Genet. 2016 Oct 06; 99(4):934-941. PMID: 27616479.
      View in: PubMed
    8. Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 10; 170(10):2711-8. PMID: 27320698.
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    9. Rottenstreich A, Machol K, Eisenstein EM, Padeh S, Klar A, Livneh A, Berkun Y. Behçet's disease and cerebral sinus vein thrombosis in children: a case study and review of the literature. Clin Exp Rheumatol. 2015 Nov-Dec; 33(6 Suppl 94):S163-8. PMID: 26486489.
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    10. Machol K, Vivante A, Rubinsthein M, Dekel B, Danieli J, Paret G. Keeping the heart in mind when managing hemolytic: uremic syndrome. Isr Med Assoc J. 2011 Jul; 13(7):446-7. PMID: 21838193.
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    11. Rainis L, Toki T, Pimanda JE, Rosenthal E, Machol K, Strehl S, Göttgens B, Ito E, Izraeli S. The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Res. 2005 Sep 01; 65(17):7596-602. PMID: 16140924.
      View in: PubMed
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