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KEREN MACHOL

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address6701 FANNIN
Houston, TX 77030
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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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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z, Undiagnosed Diseases Network, Eng CM, Lee B, Liu P. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 Apr 03. PMID: 38593811.
      Citations:    
    2. Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia F. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87. PMID: 38438854; PMCID: PMC10910770.
      Citations:    Fields:    Translation:Humans
    3. Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang J. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. EBioMedicine. 2024 Jan; 99:104940. PMID: 38154379; PMCID: PMC10784679.
      Citations:    Fields:    Translation:HumansCells
    4. Snyder MT, Manor J, Gijavanekar C, Mizerik E, Kralik SF, Elsea SH, Machol K, Emrick L, Scaglia F. Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 Mar; 194(3):e63461. PMID: 37953071.
      Citations:    Fields:    Translation:Humans
    5. Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von St?lpnagel C, Smedley D, TMEM63B collaborators, Genomics England Research Consortium, Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Am J Hum Genet. 2023 08 03; 110(8):1356-1376. PMID: 37421948; PMCID: PMC10432263.
      Citations: 3     Fields:    Translation:Humans
    6. Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 04 11; 14(1):2026. PMID: 37041148; PMCID: PMC10090152.
      Citations:    Fields:    Translation:Animals
    7. Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Ferlini A, Gavrilova RH, Graham JM, Juusola J, Kant SG, Kayani S, Ketteler P, Koopmann TT, Kruisselbrink TM, Kuechler A, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, McLaughlin J, Murgia A, Narayanan V, Neuser S, Ognibene D, Platzer K, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Haack TB, Keren B, Kl?ckner C, Lambert L, Latypova X, Mignot C, Nava C, Nizon M, Park J, Poirsier C, Trentesaux AS. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 06 13; 14(1):62. PMID: 35698242; PMCID: PMC9195326.
      Citations:    Fields:    Translation:Humans
    8. 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. Hum Mol Genet. 2022 04 22; 31(8):1325-1335. PMID: 34740257; PMCID: PMC9029232.
      Citations:    Fields:    Translation:Animals
    9. Gofin Y, Mackay LP, Machol K, Keswani S, Potocki L, Hernandez-Garcia A, Scott DA, Di Gregorio E, Naretto VG, Brusco A. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 03; 185(3):836-840. PMID: 33443296; PMCID: PMC8011624.
      Citations: 2     Fields:    Translation:Humans
    10. 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; PMCID: PMC6976298.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    11. 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, Members of the BBD Consortium, 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; PMCID: PMC7385724.
      Citations: 5     Fields:    Translation:Humans
    12. Zawerton A, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Guillen Sacoto MJ, Schnur RE, Zhu Z, 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, Vargas M, Wojcik A, 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, Deciphering Developmental Disorder Study, Klee EW, Clark KJ, Mignot C, 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, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hoffer MJV, Cherik F, Francannet C, Nizon M, Cogn? B, Kuechler A, Piton A, Lefebvre V, Depienne C. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537. PMID: 31578471; PMCID: PMC9063678.
      Citations: 4     Fields:    Translation:HumansAnimals
    13. 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, 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, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM, Rosello Piera M, Orellana C, Mart?nez F, Caro-Llopis A, Monfort S, Thevenon J, Faivre L, Maurel A, Petrovski S. 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; PMCID: PMC6323608.
      Citations: 24     Fields:    Translation:Humans
    14. 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 Aug; 4(4):e248. PMID: 30046660; PMCID: PMC6055357.
      Citations: 4     
    15. 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; PMCID: PMC5315610.
      Citations: 2     Fields:    Translation:Humans
    16. 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, DDD Study, 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; PMCID: PMC5065651.
      Citations: 47     Fields:    Translation:HumansAnimalsCells
    17. 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.
      Citations: 8     Fields:    Translation:Humans
    18. Rottenstreich A, Machol K, Eisenstein EM, Padeh S, Klar A, Livneh A, Berkun Y. Beh?et'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.
      Citations: 1     Fields:    Translation:Humans
    19. 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.
      Citations: 2     Fields:    Translation:Humans
    20. Rainis L, Toki T, Pimanda JE, Rosenthal E, Machol K, Strehl S, Ito E, Izraeli S, G?ttgens B. The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Res. 2005 Sep 01; 65(17):7596-602. PMID: 16140924.
      Citations: 43     Fields:    Translation:HumansCells
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