Ohad Birk Explained

Ohad Birk
Birth Place:	Rehovot
Nationality:	Israeli
Field:	Medicine, Human Genetics
Workplaces:	Ben-Gurion University of the Negev and Soroka Medical Center
Doctoral Advisor:	Irun Cohen

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]

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. 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.

Biography

Personal

Born and raised in Rehovot, Israel. Son of Prof. Meir Birk and Prof. Yehudith Birk. Brother of Prof. Yitzhak (Tsahi) Birk.^{[10] [11]} 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,^[12] delineating hsp60 as a crucial autoantigen in type 1 diabetes and allograft rejection, effective in their prevention.^{[13] [14] [15]} 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.^[16]

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. Among the many diseases discovered are Progressive Cerebello Cerebral Atrophy (PCCA) and PCCA2, two of the most common severe genetic diseases in Sephardic Jews, the first gene for near-sightedness, as well as three genetic syndromes named after professor Birk. Human Genetics studies in the Birk lab (named after philanthropist Morris Kahn) span from generation of novel bioinformatics tools,^[17] 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.^[18]
• Birk - Flusser syndrome: dysmorphic mental retardation due to FRMD4A mutation.^[19]
• 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.^[20]
• 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.^[21]
• Myopia: the first identification of monogenic non-syndromic myopia gene: Near-sightedness caused by a mutation in LEPREL1, encoding Prolyl 3-hydroxylase 2.^[22]
• UNC80-associated syndrome of hypotonia, intellectual disability, dyskinesia, dysmorphism.^[23]
• Microcephaly caused by WDFY3 (ALFY) mutation – delineating novel pathway controlling Wnt signaling.^[24]
• 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.^[25]
• Foveal hypoplasia caused by SLC38A8 (1:10 Mumbai Indian Jews is a carrier).^[26]
• Adams Oliver syndrome: caused by EOGT mutation (discovered in parallel to and independent of the group of Alkuraya)^[27]
• Lethal congenital contractural syndrome (arthrogryposis) type 2 (LCCS2) - caused by a mutation in ERBB3 (Her3).^[28]
• Lethal congenital contractural syndrome (arthrogryposis) type 3 (LCCS3) - caused by a mutation in PIP5K1C of the phosphatidylinositol pathway.^[29]
• Lethal congenital contractural syndrome (arthrogryposis) type 4 (LCCS4) - caused by a mutation in MYBPC1.^[30]
• Autosomal recessive osteogenesis imperfecta (OI) caused by mutation in TMEM38B (discovered in parallel to and independent of the group of Alkuraya)^[31]
• Meconium ileus (non-CF) caused by inactivating mutation in GUCY2C, encoding the CFTR-activating guanylate cyclase C.^[32]
• Hyperchlorhidrosis caused by mutation in CA12, enclding carbonic anhydrase XII.^[33]
• Connatal Pelizaeus-Merzbacher-like disease (PMLD) caused by AIMP1/p43 mutation.^[34]
• Mitochondrial complex III deficiency due to UQCRQ mutation^[35]
• Congenital cataract (recessive) due to CRYBB1 mutation.^[36]
• Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation^[37]
• 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).^[38]
• Seborrhea-like dermatitis with psoriasis-like elements caused by mutation in ZNF750, a novel master transcription factor controlling skin barrier formation.^[39]
• A neurological disorder caused by DEGS mutation (discovered in parallel to and independent of the group of Pant et al.)^[40]
• A microcephaly syndrome caused by mutations in the microtubule-associated protein MAP11 (C7orf43, TRAPPC14, MCPH25).^[41]
• Progressive hereditary spastic paraplegia caused by KY mutation^[42]
• A syndrome of hypotonia and global neurodevelopmental delay caused by PAX7 mutation.^[43]
• Intellectual disability syndrome caused by RSRC1 mutation, causing aberrant splicing and transcription, downregulating IGFBP3.^[44]
• Bardet Biedl syndrome caused by mutation in SCAPER^[45]
• A novel neurological disease caused by SEC31A mutation, affecting endoplasmic reticulum homeostasis.^[46]
• Nocturnal atrial fibrillation caused by gain of function mutation in KCND2, encoding pore-forming alpha subunit of the cardiac Kv4.2 potassium channel.^[47]
• Gout caused by aberrant D-lactate dehydrogenase^[48]
• Birk–Landau-Perez syndrome, a novel cerebro-renal syndrome caused by SLC30A9 mutations.^[49]

External links

• Prof. Ohad Birk, the National Institute for Biotechnology in the Negev (NIBN)
• Prof. Ohad Birk, Soroka Medical Center
• Selected publications, Ohad Birk
• Movie - Ohad Birk, genetic research in the Bedouins, 2009
• NY Times 2006 – A hunt for Genes that Betrayed a Desert People
• BBC World Doha Debates 2012 (cousin marriages)

Press - partial selection (by dates)

• Israel 21c, 2004
• NY Times 2006
• Israel 21c 2010
• Israel 21c, 2011
• BBC World Doha Debates 2012
• Jerusalem Post 2012
• Gulf News, Qatar, 2012
• The Forward (NY) 2012
• Israel21c, 2012
• Channel 10, London and Kirschenbaum
• The Forward 2014
• Haaretz 2014
• Web site: BGU researchers identify mutation causing genetic disease common in Moroccan Jews . PressReader. 2017-02-03.
• JNS (Jewish News Service) 2014
• Times of Israel 2014
• Popular Science 2014
• Bionews UK 2014
• Israel Hayom 2014
• The Algemeiner 2014
• La Gazette – Dafina, France, 2014
• Deutschmedizin (German) 2014
• Source-1 (French) 2014
• Corinnaz (Spanish) 2014
• The Jewish Week, 2015
• The Jewish Week – NY, 2016
• Jewish Chronicle, London, 2016
• Jerusalem Post 2016
• abv articulos (Italy) 2016

Music by Ohad Birk

• Lo Rotze Lihyot Schnitzel
• Tikva le-Ahava

Notes and References

1. Web site: Ohad Birk - Publications List. publicationslist.org. 2017-02-03.
2. News: Fighting Genetic Disease Among The Bedouins. Jewish Week. English. 2017-02-03.
3. Web site: BGU researchers identify mutation causing genetic disease common in Moroccan Jews . PressReader. 2017-02-03.
4. Web site: המכון לגנטיקה של האדם סורוקה מרכז רפואי אוניברסיטאי . hospitals.clalit.co.il.
5. Web site: Leading the Way From Basic to Applied Innovative Research . in.bgu.ac.il . 19 February 2021.
6. Web site: Ben-Gurion University of the Negev - Prof. Ohad Birk Awarded the 2014 KKL Blumberg Prize for Excellence in Medical Research.
7. News: A Hunt for Genes That Betrayed a Desert People. Kraft. Dina. 2006-03-21. The New York Times. 0362-4331. 2017-02-03.
8. Web site: The Stream - Cousin marriages: tradition versus taboo . Al Jazeera English.
9. News: Cousin marriages: tradition versus taboo. webmaster. 2013-06-18. The Stream - Al Jazeera English. 2017-02-03.
10. News: "אישה, אם ומדענית" . 20 February 2021 . Haaretz הארץ . he.
11. Web site: Yehudith Birk . Jewish Women's Archive . 20 February 2021 . en.
12. 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 . February 1996 . 93 . 1032-1037 . 30 June 2024.
13. 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.. 1996-02-06. 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. 0027-8424. 40025 . 8577709. 10.1073/pnas.93.3.1032. 1996PNAS...93.1032B. free.
14. Birk. O. S.. Elias. D.. Weiss. A. S.. Rosen. A.. van-der Zee. R.. Walker. M. D.. Cohen. I. R.. 1996-04-01. NOD mouse diabetes: the ubiquitous mouse hsp60 is a beta-cell target antigen of autoimmune T cells. Journal of Autoimmunity. 9. 2. 159–166. 10.1006/jaut.1996.0019. 0896-8411. 8738959.
15. Birk. O. S.. Gur. S. L.. Elias. D.. Margalit. R.. Mor. F.. Carmi. P.. Bockova. J.. Altmann. D. M.. Cohen. I. R.. 1999-04-27. 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. 0027-8424. 21833 . 10220435. 10.1073/pnas.96.9.5159. 1999PNAS...96.5159B. free.
16. Birk. O. S.. Casiano. D. E.. Wassif. C. A.. Cogliati. T.. Zhao. L.. Zhao. Y.. Grinberg. A.. Huang. S.. Kreidberg. J. A.. 2000-02-24. The LIM homeobox gene Lhx9 is essential for mouse gonad formation. Nature. 403. 6772. 909–913. 10.1038/35002622. 0028-0836. 10706291. 2000Natur.403..909B. 4408338.
17. Web site: Contact . fohs.bgu.ac.il . 20 February 2021.
18. Web site: KCNK9 imprinting syndrome.
19. 4795192. 2014. Fine. D.. A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. European Journal of Human Genetics. 23. 12. 1729–1734. Flusser. H.. Markus. B.. Shorer. Z.. Gradstein. L.. Khateeb. S.. Langer. Y.. Narkis. G.. Birk. R.. Galil. A.. Shelef. I.. Birk. O. S.. 25388005. 10.1038/ejhg.2014.241.
20. 2948803. 2010. Agamy. O.. Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy. American Journal of Human Genetics. 87. 4. 538–544. 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.. 20920667. 10.1016/j.ajhg.2010.09.007.
21. 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 . VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) . Journal of Medical Genetics . May 2014 . 51 . 5 . 303–308 . 10.1136/jmedgenet-2013-101823 . 24577744 . 8752023 .
22. 3169819. 2011. Mordechai. S.. High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2. American Journal of Human Genetics. 89. 3. 438–445. 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.. 21885030. 10.1016/j.ajhg.2011.08.003.
23. 26545877. 2016. Perez. Y.. 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. Kadir. R.. Volodarsky. M.. Noyman. I.. Flusser. H.. Shorer. Z.. Gradstein. L.. Birnbaum. R. Y.. Birk. O. S.. 10.1136/jmedgenet-2015-103352. 206998099.
24. 10.1371/journal.pgen.1005919. 27008544. 4805177. ALFY-Controlled DVL3 Autophagy Regulates WNT Signaling, Determining Human Brain Size. PLOS Genetics. 12. 3. e1005919. 2016. 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.. free.
25. 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. . CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay . Human Molecular Genetics . 15 November 2015 . 24 . 22 . 6485–6491 . 10.1093/hmg/ddv357 . 26358778 . free .
26. 3992574. 2013. Perez. Y.. 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. Gradstein. L.. Flusser. H.. Markus. B.. Cohen. I.. Langer. Y.. Marcus. M.. Lifshitz. T.. Kadir. R.. Birk. O. S.. 24045842. 10.1038/ejhg.2013.212.
27. 3925282. 2013. Cohen. I.. 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. Silberstein. E.. Perez. Y.. Landau. D.. Elbedour. K.. Langer. Y.. Kadir. R.. Volodarsky. M.. Sivan. S.. Narkis. G.. Birk. O. S.. 23860037. 10.1038/ejhg.2013.159.
28. 1950827. 2007. Narkis. G.. 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. Ofir. R.. Manor. E.. Landau. D.. Elbedour. K.. Birk. O. S.. 17701904. 10.1086/520770.
29. 1950840. 2007. Narkis. G.. 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. Ofir. R.. Landau. D.. Manor. E.. Volokita. M.. Hershkowitz. R.. Elbedour. K.. Birk. O. S.. 17701898. 10.1086/520771.
30. 22610851. 2012. Markus. B.. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Human Mutation. 33. 10. 1435–8. Narkis. G.. Landau. D.. Birk. R. Z.. Cohen. I.. Birk. O. S.. 10.1002/humu.22122. 36875250. free.
31. Volodarsky . Michael . Markus . Barak . Cohen . Idan . Staretz-Chacham . Orna . Flusser . Hagit . Landau . Daniella . Shelef . Ilan . Langer . Yshaia . Birk . Ohad S. . A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta . Human Mutation . 34 . 4 . 582–6 . January 2013 . 10.1002/humu.22274 . 23316006 . 6036441 . free .
32. 3376486. 2012. Romi. H.. Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C. American Journal of Human Genetics. 90. 5. 893–899. Cohen. I.. Landau. D.. Alkrinawi. S.. Yerushalmi. B.. Hershkovitz. R.. Newman-Heiman. N.. Cutting. G. R.. Ofir. R.. Sivan. S.. Birk. O. S.. 22521417. 10.1016/j.ajhg.2012.03.022.
33. 2978943. 2010. Feldshtein. M.. Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII. American Journal of Human Genetics. 87. 5. 713–720. Elkrinawi. S.. Yerushalmi. B.. Marcus. B.. Vullo. D.. Romi. H.. Ofir. R.. Landau. D.. Sivan. S.. Supuran. C. T.. Birk. O. S.. 21035102. 10.1016/j.ajhg.2010.10.008.
34. 3059423. 2011. Feinstein. M.. Response to Biancheri et al. And Boepsflug-Tanguy et al.: AIMP1/P43 Connatal PMLD. American Journal of Human Genetics. 88. 3. 393–395. Markus. B.. Noyman. I.. Shalev. H.. Flusser. H.. Shelef. I.. Liani-Leibson. K.. Shorer. Z.. Cohen. I.. Khateeb. S.. Sivan. S.. Birk. O. S.. 10.1016/j.ajhg.2011.01.020.
35. 2427202. 2008. Barel. O.. Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ. American Journal of Human Genetics. 82. 5. 1211–1216. Shorer. Z.. Flusser. H.. Ofir. R.. Narkis. G.. Finer. G.. Shalev. H.. Nasasra. A.. Saada. A.. Birk. O. S.. 18439546. 10.1016/j.ajhg.2008.03.020.
36. 10.1167/iovs.06-1019. 17460281. HomozygousCRYBB1Deletion Mutation Underlies Autosomal Recessive Congenital Cataract. Investigative Ophthalmology & Visual Science. 48. 5. 2208–13. 2007. Cohen. David. Bar-Yosef. Udy. Levy. Jaime. Gradstein. Libe. Belfair. Nadav. Ofir. Rivka. Joshua. Sarah. Lifshitz. Tova. Carmi. Rivka. Birk. Ohad S.. free.
37. 15257456. 2004. Bar-Yosef. U.. CHX10 mutations cause non-syndromic microphthalmia/ Anophthalmia in Arab and Jewish kindreds. Human Genetics. 115. 4. 302–9. Abuelaish. I.. Harel. T.. Hendler. N.. Ofir. R.. Birk. O. S.. 10.1007/s00439-004-1154-2. 28981190.
38. 1698558. 2006. Khateeb. S.. PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy. American Journal of Human Genetics. 79. 5. 942–948. Flusser. H.. Ofir. R.. Shelef. I.. Narkis. G.. Vardi. G.. Shorer. Z.. Levy. R.. Galil. A.. Elbedour. K.. Birk. O. S.. 17033970. 10.1086/508572.
39. Cohen . Idan . Birnbaum . Ramon Y. . Leibson . Keren . Taube . Ran . Sivan . Sara . Birk . Ohad S. . Brandner . Johanna M. . ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes . PLOS ONE . 24 August 2012 . 7 . 8 . e42628 . 10.1371/journal.pone.0042628 . 22936986 . 3427353 . 2012PLoSO...742628C . free .
40. Dolgin . Vadim . Straussberg . Rachel . Xu . Ruijuan . Mileva . Izolda . Yogev . Yuval . Khoury . Raed . Konen . Osnat . Barhum . Yael . Zvulunov . Alex . Mao . Cungui . Birk . Ohad S. . DEGS1 variant causes neurological disorder . European Journal of Human Genetics . 2019 . 27 . 11 . 1668–1676 . 10.1038/s41431-019-0444-z . 31186544 . 6871177 . 1476-5438. free .
41. Perez . Yonatan . Bar-Yaacov . Reut . Kadir . Rotem . Wormser . Ohad . Shelef . Ilan . Birk . Ohad S. . Flusser . Hagit . Birnbaum . Ramon Y. . Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish . Brain: A Journal of Neurology . 2019 . 142 . 3 . 574–585 . 10.1093/brain/awz004 . 30715179 . 6391606 . 1460-2156. free .
42. 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. . Progressive hereditary spastic paraplegia caused by a homozygous KY mutation . European Journal of Human Genetics . 2017 . 25 . 8 . 966–972 . 10.1038/ejhg.2017.85 . 28488683 . 5567152 . 1476-5438. free .
43. Proskorovski-Ohayon . Regina . Kadir . Rotem . Michalowski . Analia . Flusser . Hagit . Perez . Yonatan . Hershkovitz . Eli . Sivan . Sara . Birk . Ohad S. . PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay . Human Mutation . 2017 . 38 . 12 . 1671–1683 . 10.1002/humu.23310 . 28779497 . 23116007 . 1098-1004. free .
44. 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. . RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3 . Brain: A Journal of Neurology . 2018 . 141 . 4 . 961–970 . 10.1093/brain/awy045 . 29522154 . 1460-2156. free .
45. 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. . SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome . European Journal of Human Genetics . 2019 . 27 . 6 . 928–940 . 10.1038/s41431-019-0347-z . 30723319 . 6777442 . 1476-5438. free .
46. 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. . SEC31A mutation affects ER homeostasis, causing a neurological syndrome . Journal of Medical Genetics . 2019 . 56 . 3 . 139–148 . 10.1136/jmedgenet-2018-105503 . 30464055 . 53717389 . 1468-6244.
47. 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. . 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 . 2018 . 11 . 11 . e002293 . 10.1161/CIRCGEN.118.002293 . 30571183 . 2574-8300. free .
48. 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. . Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase . The Journal of Clinical Investigation . 2019 . 129 . 12 . 5163–5168 . 10.1172/JCI129057 . 31638601 . 6877321 . 1558-8238. free .
49. OMIM Entry - # 617595 - BIRK-LANDAU-PEREZ SYNDROME; BILAPES . www.omim.org . en-us.