Ohad Birk

Last updated

Ohad Birk
OhadBirk.jpg
Born
Rehovot
NationalityIsraeli
Scientific career
Fields Medicine, Human Genetics
Institutions Ben-Gurion University of the Negev and Soroka Medical Center
Doctoral advisor Irun Cohen
Website nibn.co.il/researcher/prof-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]

Contents

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.[ citation needed ]

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:

Related Research Articles

<span class="mw-page-title-main">Joubert syndrome</span> Medical condition

Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

The Coat Protein Complex II, or COPII, is a group of proteins that facilitate the formation of vesicles to transport proteins from the endoplasmic reticulum to the Golgi apparatus or endoplasmic-reticulum–Golgi intermediate compartment. This process is termed anterograde transport, in contrast to the retrograde transport associated with the COPI complex. COPII is assembled in two parts: first an inner layer of Sar1, Sec23, and Sec24 forms; then the inner coat is surrounded by an outer lattice of Sec13 and Sec31.

Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium, transverse defects of the limbs, and mottling of the skin.

<span class="mw-page-title-main">Cohen syndrome</span> Medical condition

Cohen syndrome is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction.

<span class="mw-page-title-main">Iduronate-2-sulfatase</span> Class of enzymes

Iduronate 2-sulfatase is a sulfatase enzyme associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.

<span class="mw-page-title-main">Collagen, type III, alpha 1</span>

Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each called an alpha 1 chain of type III collagen. Formally, the monomers are called collagen type III, alpha-1 chain and in humans are encoded by the COL3A1 gene. Type III collagen is one of the fibrillar collagens whose proteins have a long, inflexible, triple-helical domain.

<span class="mw-page-title-main">Hay–Wells syndrome</span> Medical condition

Hay–Wells syndrome is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.

<span class="mw-page-title-main">Yunis–Varon syndrome</span> Medical condition

Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia, is an extremely rare autosomal recessive multisystem congenital disorder which affects the skeletal system, ectodermal tissue, heart and respiratory system. It was first described by Emilio Yunis and Humberto Váron from the National University of Colombia.

<span class="mw-page-title-main">ZEB2</span> Protein-coding gene in the species Homo sapiens

Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene. The ZEB2 protein is a transcription factor that plays a role in the transforming growth factor β (TGFβ) signaling pathways that are essential during early fetal development.

<span class="mw-page-title-main">VPS13B</span> Protein-coding gene in the species Homo sapiens

Intermembrane lipid transfer protein VPS13B, also known as vacuolar protein sorting-associated 13B, and Cohen syndrome protein 1 is a protein that in humans is encoded by the VPS13B gene. It is a giant protein associated with the Golgi apparatus that is believed to be involved in post-Golgi apparatus sorting and trafficking. Mutations in the human VPS13B gene cause Cohen syndrome.

<span class="mw-page-title-main">Endothelin receptor type B</span> Protein-coding gene in the species Homo sapiens

Endothelin receptor type B, (ET-B) is a protein that in humans is encoded by the EDNRB gene.

<span class="mw-page-title-main">Carbonic anhydrase 12</span> Enzyme found in humans

Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12 gene.

<span class="mw-page-title-main">SALL1</span> Protein-coding gene in the species Homo sapiens

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene. As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.

<span class="mw-page-title-main">VSX2</span> Protein-coding gene in the species Homo sapiens

Visual system homeobox 2 is a protein that in humans is encoded by the VSX2 gene.

Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. Germline mosaicism can be present at the same time as somatic mosaicism or individually, depending on when the conditions occur. Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence.

<span class="mw-page-title-main">Autoimmune polyendocrine syndrome type 1</span> Autoimmune condition causing dysfunction of endocrine glands

Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome. It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect in the AIRE gene , which is located on chromosome 21 and normally confers immune tolerance.

<span class="mw-page-title-main">VPS53</span> Protein-coding gene in the species Homo sapiens

Vacuolar protein sorting 53 homolog is a protein that in humans is encoded by the VPS53 gene.

<span class="mw-page-title-main">UQCRQ</span> Protein-coding gene in the species Homo sapiens

Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa is a protein that in humans is encoded by the UQCRQ gene. This ubiqinone-binding protein is a subunit of mitochondrial Complex III in the electron transport chain. A mutation in the UQCRQ gene has been shown to cause severe neurological disorders. Infection by Trypanosoma cruzi can cause oxidative modification of this protein in cardiac muscle tissue.

<span class="mw-page-title-main">Birk-Barel syndrome</span> Medical condition

Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms include mental retardation, hypotonia, hyperactivity, and syndromic facies.

Halperin-Birk syndrome (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the SEC31A gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation. Brain MRI demonstrated microcephaly and agenesis of the corpus callosum.

References

  1. 1 2 3 4 5 "Ohad Birk - Publications List". publicationslist.org. Retrieved 3 February 2017.
  2. 1 2 "Fighting Genetic Disease Among The Bedouins". Jewish Week. Retrieved 3 February 2017.
  3. 1 2 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. 18 June 2013.
  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. ↑ Birk, Ohad S.; Douek, Daniel C.; Elias, Dana; Takacs, Katalin; Dewchand, Hamlata; Gur, Sara L.; Walker, Michael D.; Van Der Zee, Ruurd; Cohen, Irun R.; Altmann, Daniel M. (February 1996). "A role of Hsp60 in autoimmune diabetes: Analysis in a transgenic model" (PDF). 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 . PMC   40025 . PMID   8577709 . Retrieved 30 June 2024.
  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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