Ohad Birk

Ohad Birk, a physician-scientist, is a professor of human genetics, converging basic scientific research with effective clinical translational applications. Birk's research lab deciphered the molecular basis and mechanism of more than 30 human diseases, including some of the most prevalent severe hereditary diseases in Arabs and in Jews, as well as three syndromes named after Birk.[1] He also implemented his scientific findings in massive carrier testing programs, conducive to 30% reduction in infant mortality rate in the Bedouin community,[2] as well as near-eradication of two of the most common severe hereditary diseases in Sephardic Jews.[3] Birk heads the clinical Genetics Institute at Soroka Medical Center[4] and the Morris Kahn Laboratory of Human Genetics as well as Israel's National Research Center for Orphan / Rare Diseases at Ben Gurion University, and served as director of Israel's National Institute of Biotechnology in the Negev (NIBN) between 2016 and 2017.[5]

Ohad Birk
Born
Rehovot
NationalityIsraeli
Scientific career
FieldsMedicine, Human Genetics
InstitutionsBen-Gurion University of the Negev and Soroka Medical Center
Doctoral advisorIrun Cohen
Websitenibn.co.il/researcher/prof-ohad-birk/

Professor Birk is a recipient of numerous awards[6] and published in top scientific journals such as Nature, Nature Genetics, PNAS and American Journal of Human Genetics.[1] The translational impact of his work has been well echoed also in the lay press, from the NY Times[7] to Al Jazeera[8][9] and BBC World.[10]

Biography

Personal

Born and raised in Rehovot, Israel. Son of Prof. Meir Birk and Prof. Yehudith Birk. Brother of Prof. Yitzhak (Tsahi) Birk.[11][12] Married to Prof. Ruth Birk. Father of Yonatan and Michael. Birk is amateur pianist and composer.

Professional training and early studies

Following MD studies at Tel Aviv University, military service as a medical officer (Major) in the IDF and residency in Pediatrics at Sheba Medical Center, Birk did his PhD at the Weizmann Institute with Irun Cohen,[13] delineating hsp60 as a crucial autoantigen in type 1 diabetes and allograft rejection, effective in their prevention.[14][15][16] He then went on to do his training in clinical human genetics and post-doctorate with Heiner Westphal at the NIH, unraveling LHX9 as a gene critical for mammalian gonad formation.[17]

Research

Birk's team deciphered the molecular basis and mechanism of more than 30 human diseases, including some of the most prevalent severe hereditary diseases in Arabs and in Jews worldwide.[1][2][3] Among the many diseases discovered are Progressive Cerebello Cerebral Atrophy (PCCA) and PCCA2, two of the most common severe genetic diseases in Sephardic Jews,[1][3] the first gene for near-sightedness, as well as three genetic syndromes named after professor Birk.[1] Human Genetics studies in the Birk lab (named after philanthropist Morris Kahn) span from generation of novel bioinformatics tools,[18] to the clinical delineation and molecular identification of novel disease-associated genes, to in-depth developmental biology and molecular biochemistry studies discovering novel molecular pathways in health and disease. Human diseases whose molecular basis was discovered in the Birk lab include:

  • Birk - Barel syndrome: genomic imprinting mental retardation syndrome due to KCN9 mutation.[19]
  • Birk - Flusser syndrome: dysmorphic mental retardation due to FRMD4A mutation.[20]
  • PCCA – Progressive Cerebello-Cerebral Atrophy: due to SEPSECS mutation, precluding selenium incorporation. 1:40 Iraqi Jews and 1:40 Moroccan Jews is a carrier. Routine free carrier testing in Israel as of 2011.[21]
  • PCCA2 – Progressive Cerebello-Cerebral Atrophy type 2: due to VPS53 mutation, abrogating function of the gARP complex. 1:37 Moroccan Jews is a carrier. Routine free carrier testing in Israel as of 2016.[22]
  • Myopia: the first identification of monogenic non-syndromic myopia gene: Near-sightedness caused by a mutation in LEPREL1, encoding Prolyl 3-hydroxylase 2.[23]
  • UNC80-associated syndrome of hypotonia, intellectual disability, dyskinesia, dysmorphism.[24]
  • Microcephaly caused by WDFY3 (ALFY) mutation – delineating novel pathway controlling Wnt signaling.[25]
  • CCDC174-associated syndrome of hypotonia and psychomotor retardation – caused by a founder mutation shared by Bedouins and Ethiopian Jews; delineating CCDC174 as a novel component of the exon junction complex.[26]
  • Foveal hypoplasia caused by SLC38A8 (1:10 Mumbai Indian Jews is a carrier).[27]
  • Adams Oliver syndrome: caused by EOGT mutation (discovered in parallel to and independent of the group of Alkuraya)[28]
  • Lethal congenital contractural syndrome (arthrogryposis) type 2 (LCCS2) - caused by a mutation in ERBB3 (Her3).[29]
  • Lethal congenital contractural syndrome (arthrogryposis) type 3 (LCCS3) - caused by a mutation in PIP5K1C of the phosphatidylinositol pathway.[30]
  • Lethal congenital contractural syndrome (arthrogryposis) type 4 (LCCS4) - caused by a mutation in MYBPC1.[31]
  • Autosomal recessive osteogenesis imperfecta (OI) caused by mutation in TMEM38B (discovered in parallel to and independent of the group of Alkuraya)[32]
  • Meconium ileus (non-CF) caused by inactivating mutation in GUCY2C, encoding the CFTR-activating guanylate cyclase C.[33]
  • Hyperchlorhidrosis caused by mutation in CA12, enclding carbonic anhydrase XII.[34]
  • Connatal Pelizaeus-Merzbacher-like disease (PMLD) caused by AIMP1/p43 mutation.[35]
  • Mitochondrial complex III deficiency due to UQCRQ mutation[36]
  • Congenital cataract (recessive) due to CRYBB1 mutation.[37]
  • Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation[38]
  • Infantile neuroaxonal dystrophy: demonstrating that it is a storage disease caused by a mutation in PLA2G6, encoding phospholipase A2 group IV (discovered parallel to and independent of the group of Hayflick).[39]
  • Seborrhea-like dermatitis with psoriasis-like elements caused by mutation in ZNF750, a novel master transcription factor controlling skin barrier formation.[40]
  • A neurological disorder caused by DEGS mutation (discovered in parallel to and independent of the group of Pant et al.)[41]
  • A microcephaly syndrome caused by mutations in the microtubule-associated protein MAP11 (C7orf43, TRAPPC14, MCPH25).[42]
  • Progressive hereditary spastic paraplegia caused by KY mutation[43]
  • A syndrome of hypotonia and global neurodevelopmental delay caused by PAX7 mutation.[44]
  • Intellectual disability syndrome caused by RSRC1 mutation, causing aberrant splicing and transcription, downregulating IGFBP3.[45]
  • Bardet Biedl syndrome caused by mutation in SCAPER[46]
  • A novel neurological disease caused by SEC31A mutation, affecting endoplasmic reticulum homeostasis.[47]
  • Nocturnal atrial fibrillation caused by gain of function mutation in KCND2, encoding pore-forming alpha subunit of the cardiac Kv4.2 potassium channel.[48]
  • Gout caused by aberrant D-lactate dehydrogenase[49]
  • Birk – Landau - Perez syndrome, a novel cerebro-renal syndrome caused by SLC30A9 mutations.[50]

References
  1. "Ohad Birk - Publications List". publicationslist.org. Retrieved 3 February 2017.
  2. "Fighting Genetic Disease Among The Bedouins". Jewish Week. Retrieved 3 February 2017.
  3. "BGU researchers identify mutation causing genetic disease common in Moroccan Jews". Retrieved 3 February 2017 – via PressReader.
  4. "המכון לגנטיקה של האדם | סורוקה מרכז רפואי אוניברסיטאי". hospitals.clalit.co.il.
  5. "Leading the Way From Basic to Applied Innovative Research". in.bgu.ac.il. Retrieved 19 February 2021.
  6. "Ben-Gurion University of the Negev - Prof. Ohad Birk Awarded the 2014 KKL Blumberg Prize for Excellence in Medical Research".
  7. Kraft, Dina (21 March 2006). "A Hunt for Genes That Betrayed a Desert People". The New York Times. ISSN 0362-4331. Retrieved 3 February 2017.
  8. "The Stream - Cousin marriages: tradition versus taboo". Al Jazeera English.
  9. webmaster (18 June 2013). "Cousin marriages: tradition versus taboo". The Stream - Al Jazeera English. Retrieved 3 February 2017.
  10. TheRealNews (28 April 2012), The Doha Debates, retrieved 3 February 2017
  11. ""אישה, אם ומדענית"". Haaretz הארץ (in Hebrew). Retrieved 20 February 2021.
  12. "Yehudith Birk". Jewish Women's Archive. Retrieved 20 February 2021.
  13. https://www.weizmann.ac.il/immunology/iruncohen/sites/immunology.iruncohen/files/uploads/reprints/1996/313.pdf
  14. Birk, O. S.; Douek, D. C.; Elias, D.; Takacs, K.; Dewchand, H.; Gur, S. L.; Walker, M. D.; van der Zee, R.; Cohen, I. R. (6 February 1996). "A role of Hsp60 in autoimmune diabetes: analysis in a transgenic model". Proceedings of the National Academy of Sciences of the United States of America. 93 (3): 1032–1037. Bibcode:1996PNAS...93.1032B. doi:10.1073/pnas.93.3.1032. ISSN 0027-8424. PMC 40025. PMID 8577709.
  15. Birk, O. S.; Elias, D.; Weiss, A. S.; Rosen, A.; van-der Zee, R.; Walker, M. D.; Cohen, I. R. (1 April 1996). "NOD mouse diabetes: the ubiquitous mouse hsp60 is a beta-cell target antigen of autoimmune T cells". Journal of Autoimmunity. 9 (2): 159–166. doi:10.1006/jaut.1996.0019. ISSN 0896-8411. PMID 8738959.
  16. Birk, O. S.; Gur, S. L.; Elias, D.; Margalit, R.; Mor, F.; Carmi, P.; Bockova, J.; Altmann, D. M.; Cohen, I. R. (27 April 1999). "The 60-kDa heat shock protein modulates allograft rejection". Proceedings of the National Academy of Sciences of the United States of America. 96 (9): 5159–5163. Bibcode:1999PNAS...96.5159B. doi:10.1073/pnas.96.9.5159. ISSN 0027-8424. PMC 21833. PMID 10220435.
  17. Birk, O. S.; Casiano, D. E.; Wassif, C. A.; Cogliati, T.; Zhao, L.; Zhao, Y.; Grinberg, A.; Huang, S.; Kreidberg, J. A. (24 February 2000). "The LIM homeobox gene Lhx9 is essential for mouse gonad formation". Nature. 403 (6772): 909–913. Bibcode:2000Natur.403..909B. doi:10.1038/35002622. ISSN 0028-0836. PMID 10706291. S2CID 4408338.
  18. "Contact". fohs.bgu.ac.il. Retrieved 20 February 2021.
  19. "KCNK9 imprinting syndrome".
  20. Fine, D.; Flusser, H.; Markus, B.; Shorer, Z.; Gradstein, L.; Khateeb, S.; Langer, Y.; Narkis, G.; Birk, R.; Galil, A.; Shelef, I.; Birk, O. S. (2014). "A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A". European Journal of Human Genetics. 23 (12): 1729–1734. doi:10.1038/ejhg.2014.241. PMC 4795192. PMID 25388005.
  21. Agamy, O.; Ben Zeev, B.; Lev, D.; Marcus, B.; Fine, D.; Su, D.; Narkis, G.; Ofir, R.; Hoffmann, C.; Leshinsky-Silver, E.; Flusser, H.; Sivan, S.; Söll, D.; Lerman-Sagie, T.; Birk, O. S. (2010). "Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy". American Journal of Human Genetics. 87 (4): 538–544. doi:10.1016/j.ajhg.2010.09.007. PMC 2948803. PMID 20920667.
  22. Feinstein, Miora; Flusser, Hagit; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Lev, Dorit; Agamy, Orly; Cohen, Idan; Kadir, Rotem; Sivan, Sara; Leshinsky-Silver, Esther; Markus, Barak; Birk, Ohad S (May 2014). "VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)". Journal of Medical Genetics. 51 (5): 303–308. doi:10.1136/jmedgenet-2013-101823. PMID 24577744. S2CID 8752023.
  23. Mordechai, S.; Gradstein, L.; Pasanen, A.; Ofir, R.; El Amour, K.; Levy, J.; Belfair, N.; Lifshitz, T.; Joshua, S.; Narkis, G.; Elbedour, K.; Myllyharju, J.; Birk, O. S. (2011). "High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2". American Journal of Human Genetics. 89 (3): 438–445. doi:10.1016/j.ajhg.2011.08.003. PMC 3169819. PMID 21885030.
  24. Perez, Y.; Kadir, R.; Volodarsky, M.; Noyman, I.; Flusser, H.; Shorer, Z.; Gradstein, L.; Birnbaum, R. Y.; Birk, O. S. (2016). "UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN". Journal of Medical Genetics. 53 (6): 397–402. doi:10.1136/jmedgenet-2015-103352. PMID 26545877. S2CID 206998099.
  25. Kadir, Rotem; Harel, Tamar; Markus, Barak; Perez, Yonatan; Bakhrat, Anna; Cohen, Idan; Volodarsky, Michael; Feintsein-Linial, Miora; Chervinski, Elana; Zlotogora, Joel; Sivan, Sara; Birnbaum, Ramon Y.; Abdu, Uri; Shalev, Stavit; Birk, Ohad S. (2016). "ALFY-Controlled DVL3 Autophagy Regulates WNT Signaling, Determining Human Brain Size". PLOS Genetics. 12 (3): e1005919. doi:10.1371/journal.pgen.1005919. PMC 4805177. PMID 27008544.
  26. Volodarsky, Michael; Lichtig, Hava; Leibson, Tom; Sadaka, Yair; Kadir, Rotem; Perez, Yonatan; Liani-Leibson, Keren; Gradstein, Libe; Shaco-Levy, Ruthy; Shorer, Zamir; Frank, Dale; Birk, Ohad S. (15 November 2015). "CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay". Human Molecular Genetics. 24 (22): 6485–6491. doi:10.1093/hmg/ddv357. PMID 26358778.
  27. Perez, Y.; Gradstein, L.; Flusser, H.; Markus, B.; Cohen, I.; Langer, Y.; Marcus, M.; Lifshitz, T.; Kadir, R.; Birk, O. S. (2013). "Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation". European Journal of Human Genetics. 22 (5): 703–706. doi:10.1038/ejhg.2013.212. PMC 3992574. PMID 24045842.
  28. Cohen, I.; Silberstein, E.; Perez, Y.; Landau, D.; Elbedour, K.; Langer, Y.; Kadir, R.; Volodarsky, M.; Sivan, S.; Narkis, G.; Birk, O. S. (2013). "Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase". European Journal of Human Genetics. 22 (3): 374–378. doi:10.1038/ejhg.2013.159. PMC 3925282. PMID 23860037.
  29. Narkis, G.; Ofir, R.; Manor, E.; Landau, D.; Elbedour, K.; Birk, O. S. (2007). "Lethal Congenital Contractural Syndrome Type 2 (LCCS2) is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway". American Journal of Human Genetics. 81 (3): 589–595. doi:10.1086/520770. PMC 1950827. PMID 17701904.
  30. Narkis, G.; Ofir, R.; Landau, D.; Manor, E.; Volokita, M.; Hershkowitz, R.; Elbedour, K.; Birk, O. S. (2007). "Lethal Contractural Syndrome Type 3 (LCCS3) is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway". American Journal of Human Genetics. 81 (3): 530–539. doi:10.1086/520771. PMC 1950840. PMID 17701898.
  31. Markus, B.; Narkis, G.; Landau, D.; Birk, R. Z.; Cohen, I.; Birk, O. S. (2012). "Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1". Human Mutation. 33 (10): 1435–8. doi:10.1002/humu.22122. PMID 22610851. S2CID 36875250.
  32. Volodarsky, Michael; Markus, Barak; Cohen, Idan; Staretz-Chacham, Orna; Flusser, Hagit; Landau, Daniella; Shelef, Ilan; Langer, Yshaia; Birk, Ohad S. (January 2013). "A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta". Human Mutation. 34 (4): 582–6. doi:10.1002/humu.22274. PMID 23316006. S2CID 6036441.
  33. Romi, H.; Cohen, I.; Landau, D.; Alkrinawi, S.; Yerushalmi, B.; Hershkovitz, R.; Newman-Heiman, N.; Cutting, G. R.; Ofir, R.; Sivan, S.; Birk, O. S. (2012). "Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C". American Journal of Human Genetics. 90 (5): 893–899. doi:10.1016/j.ajhg.2012.03.022. PMC 3376486. PMID 22521417.
  34. Feldshtein, M.; Elkrinawi, S.; Yerushalmi, B.; Marcus, B.; Vullo, D.; Romi, H.; Ofir, R.; Landau, D.; Sivan, S.; Supuran, C. T.; Birk, O. S. (2010). "Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII". American Journal of Human Genetics. 87 (5): 713–720. doi:10.1016/j.ajhg.2010.10.008. PMC 2978943. PMID 21035102.
  35. Feinstein, M.; Markus, B.; Noyman, I.; Shalev, H.; Flusser, H.; Shelef, I.; Liani-Leibson, K.; Shorer, Z.; Cohen, I.; Khateeb, S.; Sivan, S.; Birk, O. S. (2011). "Response to Biancheri et al. And Boepsflug-Tanguy et al.: AIMP1/P43 Connatal PMLD". American Journal of Human Genetics. 88 (3): 393–395. doi:10.1016/j.ajhg.2011.01.020. PMC 3059423.
  36. Barel, O.; Shorer, Z.; Flusser, H.; Ofir, R.; Narkis, G.; Finer, G.; Shalev, H.; Nasasra, A.; Saada, A.; Birk, O. S. (2008). "Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ". American Journal of Human Genetics. 82 (5): 1211–1216. doi:10.1016/j.ajhg.2008.03.020. PMC 2427202. PMID 18439546.
  37. Cohen, David; Bar-Yosef, Udy; Levy, Jaime; Gradstein, Libe; Belfair, Nadav; Ofir, Rivka; Joshua, Sarah; Lifshitz, Tova; Carmi, Rivka; Birk, Ohad S. (2007). "HomozygousCRYBB1Deletion Mutation Underlies Autosomal Recessive Congenital Cataract". Investigative Ophthalmology & Visual Science. 48 (5): 2208–13. doi:10.1167/iovs.06-1019. PMID 17460281.
  38. Bar-Yosef, U.; Abuelaish, I.; Harel, T.; Hendler, N.; Ofir, R.; Birk, O. S. (2004). "CHX10 mutations cause non-syndromic microphthalmia/ Anophthalmia in Arab and Jewish kindreds". Human Genetics. 115 (4): 302–9. doi:10.1007/s00439-004-1154-2. PMID 15257456. S2CID 28981190.
  39. Khateeb, S.; Flusser, H.; Ofir, R.; Shelef, I.; Narkis, G.; Vardi, G.; Shorer, Z.; Levy, R.; Galil, A.; Elbedour, K.; Birk, O. S. (2006). "PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy". American Journal of Human Genetics. 79 (5): 942–948. doi:10.1086/508572. PMC 1698558. PMID 17033970.
  40. Cohen, Idan; Birnbaum, Ramon Y.; Leibson, Keren; Taube, Ran; Sivan, Sara; Birk, Ohad S.; Brandner, Johanna M. (24 August 2012). "ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes". PLOS ONE. 7 (8): e42628. Bibcode:2012PLoSO...742628C. doi:10.1371/journal.pone.0042628. PMC 3427353. PMID 22936986.
  41. Dolgin, Vadim; Straussberg, Rachel; Xu, Ruijuan; Mileva, Izolda; Yogev, Yuval; Khoury, Raed; Konen, Osnat; Barhum, Yael; Zvulunov, Alex; Mao, Cungui; Birk, Ohad S. (2019). "DEGS1 variant causes neurological disorder". European Journal of Human Genetics. 27 (11): 1668–1676. doi:10.1038/s41431-019-0444-z. ISSN 1476-5438. PMC 6871177. PMID 31186544.
  42. Perez, Yonatan; Bar-Yaacov, Reut; Kadir, Rotem; Wormser, Ohad; Shelef, Ilan; Birk, Ohad S.; Flusser, Hagit; Birnbaum, Ramon Y. (2019). "Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish". Brain: A Journal of Neurology. 142 (3): 574–585. doi:10.1093/brain/awz004. ISSN 1460-2156. PMC 6391606. PMID 30715179.
  43. Yogev, Yuval; Perez, Yonatan; Noyman, Iris; Madegem, Anwar Abu; Flusser, Hagit; Shorer, Zamir; Cohen, Eugene; Kachko, Leonid; Michaelovsky, Analia; Birk, Ruth; Koifman, Arie; Drabkin, Max; Wormser, Ohad; Halperin, Daniel; Kadir, Rotem; Birk, Ohad S. (2017). "Progressive hereditary spastic paraplegia caused by a homozygous KY mutation". European Journal of Human Genetics. 25 (8): 966–972. doi:10.1038/ejhg.2017.85. ISSN 1476-5438. PMC 5567152. PMID 28488683.
  44. Proskorovski-Ohayon, Regina; Kadir, Rotem; Michalowski, Analia; Flusser, Hagit; Perez, Yonatan; Hershkovitz, Eli; Sivan, Sara; Birk, Ohad S. (2017). "PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay". Human Mutation. 38 (12): 1671–1683. doi:10.1002/humu.23310. ISSN 1098-1004. PMID 28779497. S2CID 23116007.
  45. Perez, Yonatan; Menascu, Shay; Cohen, Idan; Kadir, Rotem; Basha, Omer; Shorer, Zamir; Romi, Hila; Meiri, Gal; Rabinski, Tatiana; Ofir, Rivka; Yeger-Lotem, Esti; Birk, Ohad S. (2018). "RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3". Brain: A Journal of Neurology. 141 (4): 961–970. doi:10.1093/brain/awy045. ISSN 1460-2156. PMID 29522154.
  46. Wormser, Ohad; Gradstein, Libe; Yogev, Yuval; Perez, Yonatan; Kadir, Rotem; Goliand, Inna; Sadka, Yair; El Riati, Saad; Flusser, Hagit; Nachmias, Dikla; Birk, Ruth; Iraqi, Muhamad; Kadar, Einat; Gat, Roni; Drabkin, Max; Halperin, Daniel; Horev, Amir; Sivan, Sara; Abdu, Uri; Elia, Natalie; Birk, Ohad S. (2019). "SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome". European Journal of Human Genetics. 27 (6): 928–940. doi:10.1038/s41431-019-0347-z. ISSN 1476-5438. PMC 6777442. PMID 30723319.
  47. Halperin, Daniel; Kadir, Rotem; Perez, Yonatan; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Berman, Erez M.; Eremenko, Ekaterina; Rotblat, Barak; Shorer, Zamir; Gradstein, Libe; Shelef, Ilan; Birk, Ruth; Abdu, Uri; Flusser, Hagit; Birk, Ohad S. (2019). "SEC31A mutation affects ER homeostasis, causing a neurological syndrome". Journal of Medical Genetics. 56 (3): 139–148. doi:10.1136/jmedgenet-2018-105503. ISSN 1468-6244. PMID 30464055. S2CID 53717389.
  48. Drabkin, Max; Zilberberg, Noam; Menahem, Sasson; Mulla, Wesam; Halperin, Daniel; Yogev, Yuval; Wormser, Ohad; Perez, Yonatan; Kadir, Rotem; Etzion, Yoram; Katz, Amos; Birk, Ohad S. (2018). "Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel". Circulation: Genomic and Precision Medicine. 11 (11): e002293. doi:10.1161/CIRCGEN.118.002293. ISSN 2574-8300. PMID 30571183.
  49. Drabkin, Max; Yogev, Yuval; Zeller, Lior; Zarivach, Raz; Zalk, Ran; Halperin, Daniel; Wormser, Ohad; Gurevich, Evgenia; Landau, Daniel; Kadir, Rotem; Perez, Yonatan; Birk, Ohad S. (2019). "Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase". The Journal of Clinical Investigation. 129 (12): 5163–5168. doi:10.1172/JCI129057. ISSN 1558-8238. PMC 6877321. PMID 31638601.
  50. "OMIM Entry - # 617595 - BIRK-LANDAU-PEREZ SYNDROME; BILAPES". www.omim.org.

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