Monika Weisz Hubshman

TitlePostdoc Fellows and Associates
InstitutionBaylor College of Medicine
DepartmentPostDoc
Address
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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. 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. Eur J Paediatr Neurol. 2019 May; 23(3):418-426. PMID: 30853297.
      Citations: 2     Fields:    Translation:Humans
    2. 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. Hum Mol Genet. 2018 02 15; 27(4):614-624. PMID: 29272404.
      Citations: 4     Fields:    Translation:Humans
    3. Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Detection of copy number variations in epilepsy using exome data. Clin Genet. 2018 03; 93(3):577-587. PMID: 28940419.
      Citations: 12     Fields:    Translation:Humans
    4. Orenstein N, Goldberg-Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, Gilad O, Scheuerman O, Dory Y, Kraus D, Tzur S, Magal N, Kilim Y, Shkalim Zemer V, Basel-Salmon L. A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. Eur J Paediatr Neurol. 2018 May; 22(3):516-524. PMID: 29422393.
      Citations: 7     Fields:    Translation:Humans
    5. Weisz Hubshman M, Basel-Vanagaite L, Krauss A, Konen O, Levy Y, Garty BZ, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D, Shichrur K, Avigad S, Hayman-Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I, Stein J. Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis. Clin Genet. 2017 Jun; 91(6):902-907. PMID: 27808398.
      Citations: 1     Fields:    Translation:HumansCells
    6. Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymanska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. Blood Cells Mol Dis. 2018 02; 68:203-208. PMID: 28274788.
      Citations: 12     Fields:    Translation:Humans
    7. Kurolap A, Orenstein N, Kedar I, Weisz Hubshman M, Tiosano D, Mory A, Levi Z, Marom D, Cohen L, Ekhilevich N, Douglas J, Nowak CB, Tan WH, Baris HN. Is one diagnosis the whole story? patients with double diagnoses. Am J Med Genet A. 2016 09; 170(9):2338-48. PMID: 27271787.
      Citations: 5     Translation:Humans
    8. Baris HN, Weisz Hubshman M, Bar-Sever Z, Kornreich L, Shkalim Zemer V, Cohen IJ. Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones. Blood Cells Mol Dis. 2016 09; 60:65-72. PMID: 26051481.
      Citations: 1     Fields:    Translation:Humans
    9. Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun; 134(6):577-87. PMID: 25792360.
      Citations: 5     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
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