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Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS. Yogev Y, et al. Among authors: halperin d. Proc Natl Acad Sci U S A. 2023 Feb 14;120(7):e2217831120. doi: 10.1073/pnas.2217831120. Epub 2023 Feb 6. Proc Natl Acad Sci U S A. 2023. PMID: 36745799 Free PMC article.
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Yogev Y, et al. Among authors: halperin d. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488683 Free PMC article.
Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations.
Mijalovsky A, Halperin D, Perez Y, Zafarov B, Shaco-Levy R, Kapelushnik J, Flusser H, Birk OS. Mijalovsky A, et al. Among authors: halperin d. J Pediatr Hematol Oncol. 2018 Nov;40(8):e511-e515. doi: 10.1097/MPH.0000000000001294. J Pediatr Hematol Oncol. 2018. PMID: 30124550
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. Halperin D, et al. J Med Genet. 2019 Mar;56(3):139-148. doi: 10.1136/jmedgenet-2018-105503. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464055
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS. Wormser O, et al. Among authors: halperin d. Am J Med Genet A. 2018 Dec;176(12):2695-2703. doi: 10.1002/ajmg.a.40668. Epub 2018 Dec 4. Am J Med Genet A. 2018. PMID: 30513137
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS. Wormser O, et al. Among authors: halperin d. Eur J Hum Genet. 2019 Jun;27(6):928-940. doi: 10.1038/s41431-019-0347-z. Epub 2019 Feb 5. Eur J Hum Genet. 2019. PMID: 30723319 Free PMC article. Clinical Trial.
403 results