רשימת פירסומים של פרופ' מוטי שוחט
מתוך Genopedia - פרופ' מוטי שוחט
LIST OF PUBLICATIONS Updated AUG 2, 2020
1. M. Aladgen, M. Shohat, S. Orda, H. Boichis.
Enhanced renal tubular calcium reabsorption independent of parathormone activity
in children on long term anticonvulsant therapy.
Acta Pediatr Scand 69:311-313, 1980.
2. M. Shohat, P. Merlob, S.H. Reisner.
Neonatal polycythemia
Pediatrics 70:155-156, 1982.
3. M. Shohat, W. Wilunsky, S.H. Reisner.
Hyperammonemia in newborn infants.
Harefuah 102:158-162, 1982.
4. M. Shohat, P. Merlob, A. Metkzer, S.H. Reisner.
Transient neonatal pustulosis.
Harefuah 102:395-397, 1982.
5. G. Zajicek, M. Shohat.
On the classification of nucleated red blood cells.
Comp Biomed Res 16:553-559, 1983.
6. M. Shohat, S.H. Reisner, R. Krikler, et al.
Retinopathy of prematurity: Incidence and risk factors.
Pediatrics 72:159-163, 1983.*
*abstracted and published in the Yearbook of Anesthesia, 1984, p. 318.
7. G. Zajicek, M. Shohat.
Image analysis of nucleated red blood cells.
Comp Biomed Res 16:347-356, 1983.
8. M. Shohat, G. Alpert, S.H. Reisner, et al.
Transillumination of the abdomen in necrotizing enterocolitis.
Harefuah 105:65-67, 1983.
9. M. Shohat, P. Merlob, S.H. Reisner.
Neonatal polycythemia: I. Early diagnosis and incidence relating to time of sampling.
Pediatrics 73:7-10, 1984.**
**abstracted and published in the Yearbook of Pediatrics, 1985, p.26
10. M. Shohat, F. Mimouni, P. Merlob, S.H. Reisner.
Neonatal polycythemia: II. Definition related to time of sampling.
Pediatrics 73:11-13, 1984.
11. M. Shohat, E. Wielunsky, S.H. Reisner.
Plasma ammonia levels during parenteral nutrition with crystalline amino acids.
J Parent Ent Nutr 8:178-180, 1984.
12. G. Zajicek, M. Shohat, A. Polliack.
On the maturation rate of the neutrophile.
The Anatomical Record 209:85-94, 1984.
13. G. Alpert, M. Shohat, S.H. Reisner, Y.L. Danon.
Osmotic fragility of erythrocytes in newborn infants treated by phototherapy.
Acta Pediatr Scand 73:254-257, 1984.
14. M. Shohat, I. Nissenkorn, D. Orpaz, S.H. Reisner.
Retinopathy of prematurity – updated.
Harefuah 106:170-174, 1984.
15. M. Shohat, S. Ashkenazi.
Pediatrics (Part A,B) (Textbook),
Dionon, Tel Aviv Univ, pp.1-720, 1985.
16. S.H. Reisner, J. Amir, M. Shohat, et al.
Retinopathy of prematurity: Incidence and treatment.
Arch Dis Child 60:698-701, 1985.
17. M. Shohat, S. Ashkenazi.
Pediatrics (Part A,B) (Textbook),
Dionon, Tel Aviv Univ,
Second and updated edition, 1986, pp. 1-720.
18. M. Shohat, M. Mimouni, A. Shuper, I. Varsano.
Adrenocortical suppression by topical application of glucocorticosteroids in infants
with seborrheic dermatitis.
Clinical Pediatrics 25::209-211, 1986.***
***Selected for abstracting and publication in the International Synopses - 1986.
19. F. Mimouni, M. Shohat, S.H. Reisner.
Donor blood G6PD deficient – A cause for hemolysis in 2 preterm infants.
Isr J Med Sci 22:120-122, 1986.
20. I. Ben-Sira, I. Nissenkorn, D. Weinberger, M. Shohat.
Long-term results of cryotherapy for active stages of retinopathy of prematurity.
Ophthalmology 93(11):1423-1428, 1986.
21. M. Shohat.
Adrenocortical suppression by topical glucocorticosteroids.
Pediatr Digest 8:28-30, 1986.
22. M. Shohat, M. Nitzan.
Gastrointestinal blood loss following cow’s milk feeding in infancy.
Harefuah 110:268-270, 1986.
23. M. Shohat, M. Nitzan.
Infantile overweight and obesity – recent advances.
Harefuah 110;312-313, 1986.
24. M. Druker, L. Lazar, M. Shohat, L. Giladi.
Case Report: First detection of cryptosporidum infection in Israel (letter).
Isr J Med Sci 22:151, 1986.
25. M. Shohat, T. Shohat, R. Kedem, M. Mimouni, Y.L. Danon.
Childhood asthma and growth outcome.
Arch Dis Child 62:63-65, 1987.
26. M. Shohat, M. Mimouni, I. Varsano.
Efficacy of topical application of glucocorticosteroids as compared to eosin in infants
with seborrheic dermatitis.
Cutis 40(1):67-68, 1987.
27. G. Kohn, M. Shohat.
Trisomy 18 mosaicism in an adult with normal intelligence.
Am J Med Genet 26(4):929-931, 1987.
28. M. Shohat, M. Nitzan.
Lactic acidosis.
Harefuah 113(9):251-253, 1987.
29. M. Shohat, Z. Goodman, H. Rogovin, M. Nitzan.
The effect of lumbar procedure on blood glucose level and leukocyte count in
infants.*
Clinical Pediatrics 26(a):477-479, 1987.
*Published also in Pediatric Year Book, 1988.
30. M. Shohat.
Genetics, diagnosis, management and prognosis of asthma in children.
Comprehensive Therapy 13(10):7-13, 1987.
31. M. Shohat, T. Shohat, M. Nitzan, M. Mimouni, R. Kedem, Y.L. Danon.
Growth and ethnicity in scoliosis.
Acta Orthop Scand 59(3):310-313, 1987.
32. M. Shohat.
Preterm blood counts vary with sampling site.
Arch Dis Child 62(11):1198-1199, 1987.
33. A. Shuper, M. Shohat, M. Mimouni, H. Sarnat, I. Varsano.
Deciduous tooth eruption in children who failed to thrive.
Helv Pediatr Acta 41(6):501-504, 1987.
34. L. Randolph, M. Shohat, D.L. Rimoin.
Achondroplasia with ankylosing spondylitis.
Am J Med Genet 31(1):117-121, 1987.
35. M. Shohat.
Application of recombinant DNA technology to detection of inherited defects.
Harefuah 114(10):499-502, 1988.
36. T. Sagie, M. Shohat, M. Nitzan.
CSF glucose levels in febrile infants
Eur J Pediatr 147:416-417, 1988.
37. M. Shohat, T. Lerman-Sagie, Y. Levy, M. Nitzan.
Cerebrospinal fluid findings in infants with non-polio enteroviral meningitis.
Isr J Med Sci 24(4-5):233-236, 1988.
38. M. Shohat, T. Shoenfeld, R. Zaizov, I.J. Cohen, M. Nitzan.
Determination of blood gases in children with extreme leukocytosis.
Crit Care Med 16(8):787-788, 1988.
39. L. Jaber, M. Shohat, M. Mimouni.
Infectious episodes following Diphtheria-Tetanus-Pertussis vaccination.
Clinical Pediatrics 27(10):491-494, 1988.
40. M. Shohat, R. Lachman, D.L. Rimoin.
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in
metatropic dysplasia.
J Pediatrics 114(2):239-243, 1988.
41. P.L. Robinson, M. Shohat, R.M. Winter, W.J. Conte, D.J. Nesbitt,
M. Feingold, Z. Laron, D.L. Rimoin.
The Floating Harbor Syndrome: A unique association of short stature, dysmorphic
features and speech impairment.
J Pediatrics 113(4):703-706, 1988.
42. S.R. Cobb, M. Shohat, C.M. Mehringer, R. Lachman.
Computed tomography of the temporal bone in achondroplasia.
Am J Neuroradiol 9(6):1195-1199, 1988.
43. M. Shohat, I. Varsano, S. Ashkenazi, M. Mimouni.
Experience and training as factor in physician performance in a pediatric emergency
room.
Isr J Med Sci 25:305-309, 1989.
44. M. Shohat, R. Lachman, H. Gruber, D.L. Rimoin.
Brachyolmia (spondylodysplasia): Clinical, radiographic and genetic evidence of
heterogeneity.
Am J Med Genet 33:209-219, 1989.
45. M. Shohat, T. Shohat, M. Mimouni, M. Nitzan, Y.L. Danon.
Hypertension in Israeli adolescents – prevalence according to weight, sex and
parents’ origin.
Am J Public Health 79:582-585, 1989.
46. H.J. Stern, R.D. Clark, A.J. Stroberg, M. Shohat.
Autosomal dominant transmission of isolated congenital vertical talus.
Clinical Genetics 36:427-430, 1989.
47. D.B. Rogers, M. Shohat, G.M. Petersen, J. Bickal, J.Congleton, A.D. Schwabe, J.I.
Rotter.
Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high
gene frequency.
Am J Med Genet 34:168-172, 1989.
48. M. Shohat, J.R. Korenberg, A.D. Schwabe, J.I. Rotter.
Familial Mediterranean fever – a genetic disorder of the lipocortin family?
Am J Med Genet 34:163-167, 1989.
49. M. Shohat, I. Levy, Y. Levy, M. Nitzan.
Case Report: Nutritional complication in an infant fed exclusively on homemade
sesame seed emulsion.
J Am Coll Nutr 1989, 8(1).
50. I. Levy, M. Shohat, Y. Levy, M. Nitzan.
Recurrent ascites associated with perinatal cytomegalovirus infection.
Eur J Pediatr 148:531-532, 1989.
51. M. Shohat. D.L. Rimoin.
Skeletal dysplasia. (Chapter 9).
In: Pediatric Endocrinology, 2nd ed. F. Lifshitz,
Marcel Dekker Inc NY, 1989. pp. 147-171.
52. M. Shohat.
Brachyolmia: Maroteaux type.
In: Birth Defect Encyclopedia. Ed. Mary Lou Buyse,
BDIS, Dover, MA, 1989.
53. M. Shohat.
Brachyolmia: Dominant type.
In: Birth Defect Encyclopedia. Ed. Mary Lou Buyse,
BDIS, Dover, MA, 1989.
54. M. Shohat.
Foot, vertical talus.
In: Birth Defect Encyclopedia. Ed. Mary Lou Buyse,
BDIS, Dover, MA, 1989.
55. M. Shohat, G. Levy, I. Levy, J. Schoenfeld, P. Merlob.
Transient tachypnea of the newborn and asthma.*
Arch Dis Child 64(2):277-279, 1989.
*Selected to Pediatrics; 100 of the best articles relevant to
pediatric allergy and immunology. Pediatrics 1990, supp.p.921.
56. M. Shohat, S. Ashkenazi.
Pediatrics (Part A,B) (Textbook),
Dionon, Tel Aviv Univ,
Third and updated edition, 1990, pp. 1-954.
57. M. Shohat, T. Shohat, J.I. Rotter, M. Schlezinger, G. Petersen, T. Pribyle, G. Sack,
A.D. Schwabe, J.R. Korenberg.
Serum amyloid A and B protein in familial Mediterranean fever.
Genomics 8:83-89, 1990.
58. T. Lerman-Sagie, M. Shohat, M. Nitzan.
Cerebrospinal fluid protein values in febrile neonates and infants.
International Pediatrics 5(4):46-52, 1990.
59. A. Garber, M. Shohat, D. Sarti.
Megacystic-microcolon-intestinal hypoperistalsis syndrome in two male siblings.
Prenatal Diagnosis 10(6);377-387, 1990.
60. T. Shohat, M. Shohat, G.M. Peterson , R. Sparkes, D. Langerfield, J. Bickal, J.R.
Korenberg, A. Schwabe, and J.I. Rotter.
Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians.
Clinical Genetics 38:332-339, 1990.
61. M. Shohat, H.E. Gruber, R.A. Pagon, L.J. Witcoff, R. Lachman, D. Ferry, D.L. Rimoin.
Geleophysic dysplasia: acrofacial syndrome with evidence for storage in skin, bone,
liver, heart and trachea.
J Pediatr 117:227-232, 1990.
62. T. Shohat, M. Shohat, D.B. Tyan, S.J. Wang, R.S. Sparks, A.D. Schwabe, J.I. Rotter.
Familial Mediterranean fever – linkage studies with genetic markers on chromosome 6.
Tissue Antigens 35;103-107, 1990.
63. M. Shohat, T. Shohat, D.L. Rimoin, T. Mohandas, J. Heckenlively, R.E. Magenis, M.B.
Davidson, J.R. Korenberg.
Rearrangement of chromosome 15 in the region q11.2-q12 in an individual with
obesity syndrome and her normal mother.
Am J Med Genet 37;173-177, 1990.
64. R. Eliashar, C. Pe’er, M. Shohat.
Advances in genetics of retinoblastoma.
Harefuah 118:647-650, 1990.
65. M. Shohat.
The skeletal dysplasias. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 858-881, 1990.
66. M. Shohat.
Genetic diseases. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 82-102, 1990.
67. M. Shohat.
Inborn errors of metabolism. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 141-185, 1990.
68. M. Shohat, V. Herman, S. Melmed, N. Neufeld, R. Schreck, S. Pulst, J.M. Graham,
D.L. Rimoin, J.R. Korenberg.
Deletion of 20p 11.23-pter with normal growth-hormone releasing hormone genes.
Am J Med Genet 39;56-63, 1991.
69. G. Barkai, R. Chaki, M. Shohat, B. Goldman.
Human chorionic gonadotrophin and trisomy 18.
Am J Hum Genet 41;52-53, 1991.
70. M. Shohat, D.L. Rimoin, H. Gruber, R. Lachman.
Perinatal lethal hypophosphatasia: Clinical, radiologic and morphologic findings.
Pediatr Radiol 21;421-427, 1991.
71. D.L. Rimoin, M. Shohat.
The chondrodysplasias – recognition and diagnosis.
The Endocrinologist 1(4);240-248, 1991
72. M. Shohat, D.L. Rimoin, H. Gruber, R. Lachman.
Geleophisic Dysplasia: Eine Speicherkrankheit der Hout, der knochen, der leber,
des herzens und der trachea.
Extracta Paediatria 15(3);16-17, 1991.
73. L. Jaber, P. Merlob, X. Bu, J.I. Rotter, M. Shohat.
Marked parental consanguinity as a cause for increased major congenital
malformation in the Israeli Arab community.
Am J Med Genet 44;1-6, 1992.
74. S. Nakar, A. Ingber, I. Kremer, E. Hodak, B Garty, E. Ben-David, M. David, M. Shohat.
Late onset localized junctional Epidermolysis bullosa and mental retardation. A distinct
autosomal recessive syndrome.
Am J Med Genet 43;776-779, 1992.
75. M. Shohat, Y. Sivan, E. Taub, S. Davidson.
Brief clinical report: Autosomal dominant congenital laryngomalacia.
Am J Med Genet 42;813-814, 1992.
76. M. Shohat, B.J. Schmidt, R.S. Lachman, C.S. Houston, D.L Rimoin.
The Schmidt-Sutcliffe spectrum of spondylometaphyseal dysplasia heterogeneity or
variability?
Am J Med Genet 42;50-55, 1992.
77. L. Jaber, M. Shohat, X. Bu, N. Fischel-Ghodsian, H.Y. Yang, S.J. Wang, J.I. Rotter.
Sensorineural deafness inherited as a tissue specific disorder.
J Med Genet 29;86-90, 1992.
78. X. Bu, H.Y. Yang M. Shohat, J.I. Rotter.
Two-Locus mitochondrial and nuclear gene models for mitochondrial disorders.
Genetic Epidemiology 9;27-44, 1992.
79. M. Shohat, Y.L. Danon, J.I. Rotter.
Familial Mediterranean fever: analysis of inheritance and current linkage data.
Am J Med Genet 44;183-188, 1992.
80. M. Shohat, A. Livneh, D. Zemer, M. Pras, E. Zohar.
Twin study in familial Mediterranean fever.
Am J Med Genet 44;179-182, 1992.
81. T.R Prezant, M. Shohat, S. Pressman, N. Fischel-Ghodsian.
Biochemical characterization of a pedigree with mitochondrially inherited deafness.
Am J Med Genet 44;465-472, 1992.
82. P. Merlob, M. Shohat.
Phenotypic expression of the first liveborn 68,XX triploid newborn.
Clinical Genetics 28;886-887, 1992.
83. B. Shohat, B. Sredni, M. Shohat, J. Factor, G Barkai, D Harell, L. Kozenitzky.
IL-2 receptor and IL-2 production in human amniotic fluid of normal and abnormal
pregnancies.
Biology of the Neonate 63;281-284, 1992.
84. C. Johnson, T. Shohat, M. Schlezinger, M. Shohat.
Further mapping of the gene causing properdin deficiency to the Xp11.3-p21.1.
Life Sci Adv 11;235-237, 1992.
85. M. Shohat, X. Bu, T. Shohat, N. Fischel-Ghodsian, N. Magal, Y. Nakamura, A.D.
Schwabe, M. Schlezinger, Y.Danon, J.I. Rotter.
The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews
is linked to the Alpha-globin complex on 16p. Evidence for genetic homogeneity.
Am J Hum Genet 51;1349-1354, 1992.
86. M. Shohat, E. Flaum, S. Cobb, R. Lachman, C. Rubin, C. Ash, D. Rimoin.
Hearing loss and temporal bone structure in Achondroplasia.
Am J Med Genet 45;548-551, 1993.
87. M. Shohat, R. Lachman, R. Carmi, J. Bar Ziv, D.L. Rimoin.
A new form spondyloepimetaphyseal dysplasia (SEMD) in a Jewish family of Iraqi
origin.
Am J Med Genet 46;358-362, 1993.
88. X. Bu, M. Shohat, L. Jaber, J.I. Rotter.
A form of sensorineural deafness is determined by mitochondrial and autosomal
locus: evidence from segregation analysis.
Genetic Epidemiology 10;3-15, 1993.
89. M. Shohat, R. Lachman, H. Gruber, D.L. Rimoin.
New epiphyseal stippling syndrome with osteoclastic hyperplasia (Pacman syndrome).
Am J Med Genet 45;558-561, 1993.
90. T. Prezant, J. Agapian, C. Bohlman, X. Bu, S. Oztas, W. Qiu, K. Arnos, G. Cortopassi,
L. Jaber, J. Rotter, M. Shohat, N. Fischel-Ghodsian.
Mitochondrial ribosomal RNA mutation associated with both antibiotic induced and
non-syndromic deafness.
Nature Genetics 4;289-294, 1993.
91. R. Sheffer, M. Shohat, P. Merlob.
Prolonged maternal diet imbalance and recurrent fetuses with congenital anomalies.
Am J Med Genet 45;398-399, 1993.
92. M. Shohat, P. Merlob.
Prenatal diagnosis – update.
Harefuah 126;74-77, 1993.
93. A. Shuper, M. Shohat.
The genetics of Epilepsy – Significant advances in a complex problem.
Harefuah 124;506-508, 1993.
94. M. Shohat, S. Ashkenazi
Pediatrics (Part A,B) (Textbook),
Dionon, Tel Aviv Univ,
Fourth edition, updated, pp 1-1077, 1994.
95. N. Fischel-Ghodsian, X. Bu, T. Prezant, S. Oeztas, Z. Huang, C. Bohlman, J.I. Rotter,
M. Shohat.
Regional mapping of the gene for familial Mediterranean fever on human chromosome
16p13.
Am J Med Genet 46;689-693, 1994.
96. L. Jaber, J. Bailey-Wilson, M. Haj-Yehia, J. Hernandez, M. Shohat.
Consanguineous matings in the Israeli Arab community.
Arch Pediat Adolesc Med 148;412-415, 1994.
97. M. Shohat, R. Lachman, H. Gruber, E, Hsia, M. Golbus, D. Witt, C. Bryke, A. Hogge,
D. L. Rimoin.
Desbuqois syndrome: Clinical, radiographic and morphologic characterization.
Am J Med Genet 52;9-18,1994.
98. A. Brener-Ullman, H. Melzer-Ofir, M. Daniels, M. Shohat.
Possible protection against Asthma in heterozygotes for familial Mediterranean fever.
Am J Med Genet 53;174-175, 1994.
99. S. Ash, C. Johnson, M. Shohat, T. Shohat, M. Schlezinger.
Further mapping of the properdin deficiency gene in a Tunisian Jewish family –
Evidence for genetic homogeneity.
Isr J Med Sci 30:626-628, 1994.
100. B. Davidov, B. Goldman, E. Akstein, G. Barkai, C. Legum, H. Dar, Y. Romem, A.
Amiel, H. Cohen, G. Bach, Z. Appelman, M. Shohat.
Prenatal testing for Down syndrome prevention in the Jewish and non-Jewish Israeli
population.
Isr J Med Sci 30:629-633,1994.
101. A. Achiron, N. Magal, N. Shem-Tov, M. Shohat, N. Gadoth.
Myotonic dystrophy gene analysis in affected Israeli families.
Isr J Med Sci 30:622-625,1994.
102. B. Stark, M. Jeison, M. Shohat, Y. Goshen, R. Vogel, I. Cohen, I. Yaniv, C. Kaplinsky,
R. Zaizov.
Involvement of 11p15 and 3q21q26 in therapy-related myeloid leukemia (t-ML) in
children.
Cancer Genet Cytogenet 75:11-22, 1994.
103. Z. Appelman, M. Manor, N. Magal, B. Caspi, M. Shohat, I. Blickstein.
Prenatal diagnosis of twin zygosity by DNA fingerprint analysis.
Prenatal Diagnosis 14;307-309, 1994.
104. L. Jaber, P. Merlob, M. Shohat.
High incidence of central nervous system malformations associated with marked
parental consanguinity in an Israeli Arab community.
Biomed and Pharmacother 48;1-4, 1994.
105. S. Ikeda, P. Wakem, A. Haake, R. Polakoska, Y. Sarret, A. Tratner, M. David, M.
Shohat, W.T. Schroeder, E. Epstein.
Localization of the gene causing Darier's disease to a 5-cM interval on chromosome
12q.
J Invest Dermatol 103;478-481, 1994.
106. N. Shem-Tov, M. Shohat.
The dynamic mutations in human diseases.
Harefuah 127;268-273, 1994.
107. J.I. Rotter, M. Shohat.
Genetics in gastroenterology, in Principles and Practices of Gastroenterology,
edited by W.N. Kelley. J.P. Lippincott,
Philadelphia, p.1039-1060, 1994.
108. M. Shohat.
The skeletal dysplasias. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 974-999, 1994.
109. M. Shohat.
Genetic diseases. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 90-122, 1994.
110. M. Shohat.
Inborn errors of metabolism. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 172-221, 1994.
111. M. Shohat, C. Legum, Y. Romem, Z. Borochowitz, G. Bach, B. Goldman.
Down syndrome prevention program in a population with an older maternal age.
Obstet Gynecol 85;368-373, 1995.
112. L. Jaber, R. Weitz, X. Bu, N. Fischel-Ghodsian, J. Rotter, M. Shohat.
Arthrogryposis multiplex congenita in an Arab kindred.
Am J Med Genet 55:331-334, 1995.
113. M. Daniels, T. Shohat, A. Brener-Ullman, M. Shohat.
Familial Mediterranean fever: High gene frequency among the Non-Ashkenazic and
Ashkenazic Jewish population in Israel.
Am J Med Genet 55;311-314, 1995.
114. M. Shohat, E. Akstein, G. Barkai, B. Davidov, C. Legum, Z. Borochowitz, Romem, A.
Amiel, H. Cohen, G. Bach, R. Sheffer, Z. Appelman, J. Chemke, P. Tzadka, B.
Goldman.
Amniocentesis rate and detection of Down syndrome and other chromosomal
anomalies in Israel.
Prenatal Diagnosis 15;967-970, 1995.
115. G.J. Halpern, E. Stupel, G. Barkai, R. Chaki, C. Legum, M. Feigin, M. Shohat.
Solar activity cycle and the incidence of fetal chromosome abnormalities detected at
prenatal diagnosis.
International J Biometeorology 39;64-68, 1995.
116. M. Shohat, N. Fischel-Ghodsian, J.I. Rotter, Y.L. Danon.
The gene for familial Mediterranean fever is mapped to 16p13.3-p13.1 with evidence
for homogeneity.
Adv in Mucosal Immunology 371;901-903, 1995.
117. M. Druce, I. Cohen, N. Naor, M. Shohat.
Late diagnosis of Down syndrome due to incorrect cytogenetic diagnosis and extreme
prematurity.
Clinical Genetics 48;192-194, 1995.
118. A. Ballin, M. Shohat, D. Meytes.
Acute lymphoblastic leukemia with a unique translocation in an adolescent boy.
Cancer Genet Cytogenet 83:1;90-2, 1995.
119. I. Ivanov, A. Shuper, M. Shohat, M. Snir, R. Weitz.
Aniridia – recent achievements in paediatric practice.
Eur J Paediatr 154;795-800, 1995.
120. N. Levi, Y. Shen, A. Kupelian, L. Kruglyak, I. Aksentijevich, E. Pras, J.E. Balow, B.
Linzer, X. Bu, D.A. Shelton, D. Gumucio, M. Pras, M. Shohat, J.I. Rotter, N. Fischel-
Ghodsian, R.I. Richards, D.I. Kastner.
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever
close to D16S246.
Am J Hum Genet 58;523-534, 1996.
121. M. Mimouni, A. Mimouni-Bloch, J. Schachter, M. Shohat.
Familial hypothyroidism with autosomal dominant inheritance.
Arch Dis Child 75;245-246, 1996.
122. I. Braverman, L. Jaber, H. Levi, C. Adelman, K.S. Arnos, N. Fischel-Ghodsian, M.
Shohat, J. Elidan.
Audio-vestibular findings in patients with deafness caused by mitochondrial
susceptibility mutation and precipitated by an inherited nuclear mutation or
aminoglycosides.
Arch Otolaryngol Head Neck Surg 122;1001-1104, 1996.
123. M. Shohat, D. Tick, S. Barakat, X. Bu, S. Melmed, D.L. Rimoin.
Short-term recombinant human growth hormone treatment increases growth rate in
achondroplasia.
J Clin Endocrinol Metab 81;4033-4037, 1996.
124. L. Jaber, M. Shohat, G. Halpern.
Demographic characteristics of the Israeli Arab community in connection with
consanguinity.
Isr J Med Sci 32;1286-1289, 1996.
125. G.J. Halpern, M. Shohat, P. Merlob.
Partial trisomy 10q: Further delineation of the clinical manifestations involving the
segment 10q23-10q24.
Ann Genet 39;181-183, 1996.
126. M. Shohat. D.L. Rimoin,
Skeletal dysplasia. (Chapter 10).
In: Pediatric Endocrinology, 3rd ed. F. Lifshitz (Ed):
Marcel Dekker Inc NY, pp. 131-147, 1996.
127. L. Sharabani-Gargir, M. Shohat.
The muscular dystrophies.
Pediatric Update 16;15-17, 1996.
128. L. Sharabani-Gargir, M. Shohat.
Clinical application of molecular genetics.
Pediatric Update 14;9-17, 1996.
129. C. Sher, L. Sharabani-Gargir, M. Shohat.
185delAG mutation in the BRCA1 gene in Iraqi Jews.
New Eng J Med 331;1199, 1996.
130. D. Inbar, G. Halpern, R. Weitz, M. Sadeh, M.Shohat.
Agenesis of the corpus callosum in a mother and son.
Am J Med Genet 69;152-154, 1997.
131. R. Sood, T. Blake, I. Aksentijevich, G. Wood, X. Chen, D. Gardner, D.A. Shelton, M.
Mangelsdorf, A. Orsborn, A. Pras, J.E. Balow, M. Centola, Z. Deng, N. Zaks, X.
Chen, N. Richards, N. Fischel-Ghodsian, J.I. Rotter, M. Pras, M. Shohat, L.L.
Deaven, D. Gumucio, D.F. Callen, R.I. Richards, F.S. Collins, P.P. Liu, D.L. Kastner,
N.A. Doggett.
Construction of a 1-Mb restriction mapped cosmid contig containing the candidate
region for the familial Mediterranean fever locus (MEFV) on chromosome 16p13.3.
Genomics 42;83-95, 1997.
132. E. Levi-Lahad, R. Catane, S. Eisenberg, B. Kaufman, G. Hornreich, E. Lishinsky, M.
Shohat, B Weber, U. Beller, A. Lahad, D. Halle.
Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and
differential penetrance in ovarian cancer and in breast-ovarian cancer families.
Am J Hum Genet 60;1059-1067, 1997.
133. L. Jaber, X. Bu, J.I. Rotter, M. Shohat.
Consanguinity and common diseases in the Israeli Arab community.
Am J Med Genet 70;346-348,1997.
134. L.E. Warner, M. Shohat, Z. Shorer, J.R. Lupski.
Multiple de-novo MPZ (P0) point mutations in a sporadic Dejarine-Sottas case.
Human Mutation 10:21-24, 1997.
135. R. Mor-Cohen, N. Magal, N. Gadoth, M. Shohat.
The correlation between the incidence of myotonic dystrophy in different groups in
Israel and the number of CTG trinucleotide repeats in the myotonin gene.
Am J Med Genet 71;156-159, 1997.
136. The International FMF Consortium -
Group 3: X. Chen, M. Shohat, J.I. Rotter, N. Fischel-Ghodsian.
Ancient missense mutations in a new member of the RoRet gene family are likely to
cause familial Mediterranean fever.
Cell 90;797-807, 1997.
137. Y. Udler, G.J. Halpern, C. Sher, M. Davidovitz, M. Shohat.
Further delineation of the Cerebro-Osteo-Nephrodysplasia syndrome.
Am J Med Genet 72:383-385, 1997.
138. L. Jaber, P. Merlob, R. Gabriel, M. Shohat.
Effects of consanguineous marriage on reproductive outcome in an Arab community
in Israel.
J Med Genet 34;1000-1002, 1997.
139. L. Jaber, A. Nahmani, M. Shohat.
Speech disorders in Israeli Arab children.
Isr J Med Sci 33;663-665, 1997.
140. E. Deutsch, P. Vardi, M. Shohat.
Genetic risk factors for complications in Diabetes Mellitus.
Harefuah 132;862-866, 1997.
141. L. Jaber, M. Shohat,
Consanguinity among Arabs in Israel.
Harefuah 133;345-348, 1997.
142. A. Oron, A. Shuper, M. Shohat
Progress in the treatment of Duchenne muscular dystrophy.
Harefuah 134:557-560, 1997.
143. L. Zelante, P. Gasparini, X. Estivill, S. Melchionda, L. D'Agruma, N. Govea, M. Mila,
M. Della Monica, L. Jaber, M. Shohat, E. Mansfield, K. Delgrosso, E. Rappaport, S.
Surrey, P. Fortina.
Connexin 26 mutations associated with the most common form of non-syndromic
neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Human Molecular Genetics 6;1605-1609, 1997.
144. J.E. Balow, D.A. Shelton, A. Orsborn, M. Mangelsdorf, I. Aksentijevich, T. Blake, R.
Sood, D. Gardner, R. Liu, E. Pras, E.N. Levy, M. Centola, Z. Deng, N. Zaks, G.
Wood, X. Chen, N. Richards, M. Shohat, A. Livneh, M. Pras, N.A. Doggett, F.S.
Collins, P.P. Liu, J.I. Rotter, N. Fischel-Ghodsian, D. Gumucio, R.I. Richards, D.L.
Kastner.
A high-resolution map of the familial Mediterranean fever candidate region allows
identification of haplotype-sharing among ethnic groups.
Genomics 44;280-291, 1997.
145. R. Mor, N. Magal, N. Gadoth, A. Achiron, T. Shohat, M. Shohat.
The lower incidence of myotonic dystrophy in Ashkenazim compared to North-
African Jews is associated with a significantly lower number of CTG trinucleotide
repeats.
Isr J Med Sci 33;190-193, 1997.
146. M. Shohat, R. Lotan, N. Magal, T. Shohat, N. Fischel-Ghodsian, J.I. Rotter, L. Jaber.
A gene for arthrogryposis multiplex congenita-neuropathic type is linked to D5S394
on chromosome 5qter.
Am J Hum Genet 61:1139-1143, 1997.
147. R. Lotan, Y.L. Danon, N. Magal, G. Ogur, G. Tokguz, A. Schwabe, N. Fischel-
Ghodsian, D. Kastner, J. I. Rotter, M. Schlezinger, M. Shohat.
Frequencies of the various FMF core haplotypes in the MEFV locus.
In: E. Sohar, J. Gafni, M. Pras (Eds.): Familial Mediterranean Fever.
Freund Publishing House Ltd., London - Tel Aviv, pp: 104-108, 1997.
148. M. Shohat, R. Lotan, N. Magal, G. Ogur, G. Tokguz, A. Schwabe, N. Fischel-
Ghodsian, D. Kastner, J.I. Rotter, M. Schlezinger, Y.L. Danon.
Association between ancestral haplotype in the MEFV locus and FMF-amyloidosis.
In: E. Sohar, J. Gafni, M. Pras (Eds.): Familial Mediterranean Fever.
Freund Publishing House Ltd., London - Tel Aviv, pp: 115-119, 1997.
149. T. Dagan, Y.L. Danon, R. Lotan, N. Magal, G. Ogur, G. Tokguz, A. Schwabe, N.
Fischel-Ghodsian, J.I. Rotter, M. Schlezinger, M. Shohat.
Phenotype-genotype correlation in FMF.
In: E. Sohar, J. Gafni, M. Pras (Eds.): Familial Mediterranean Fever.
Freund Publishing House Ltd., London - Tel Aviv, pp: 109-114, 1997.
150. J. Yeshaya, R. Shalgi, M. Shohat, L. Avivi.
Replication timing of the various FMR1 alleles detected by FISH: Inferences
regarding their transcriptional status.
Human Genetics 102;6-14, 1998.
151. M. Horowitz, M. Pasmanik-Chor, Z. Borochowitz, T. Falik-Zaccai, K. Heldmann, R.
Carmi, R. Parvari, H. Beit-Or, B. Goldman, L. Peleg, E. Levi-Lahad, P. Renbaum, S.
Legum, R. Shomrat, H. Yeger, D. Benbenisti, R. Navon, V. Dror, M. Shohat, N.
Magal, N. Navot, N. Eyal.
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish
population.
Human Mutation 12;240-4, 1998.
152. A. Achiron, Y. Barak, N. Magal, M. Shohat, M. Cohen, R. Barar, N. Gadoth.
Abnormal liver test results in myotonic dystrophy.
J Clin Gastroenterol 26;292-5, 1998.
153. A. Kauschansky, M. Shohat, M. Frydman, A. Rosler, E. Greenbaum, L. Sirota.
A syndrome of alopecia totalis and 17-hydroxysteroid dehydrogenase deficiency.
Am J Med Genet 76;28-31, 1998.
154. Y. Bykhovskaya, M. Shohat, K. Ehrenman, D. Johnson, M. Hamon, R.M. Cantor, B.
Aouizerat, X. Bu, J.I. Rotter, L. Jaber, N. Fischel-Ghodsian.
Evidence for complex nuclear inheritance in a pedigree with non-syndromic deafness
due to a homoplastic mitochondrial mutation.
Am J Med Genet 77:421-426, 1998.
155. X. Chen, N. Fischel-Ghodsian, A. Cercek, M. Hamon, G. Ogur, R. Lotan,Y. Danon,
M. Shohat.
Assessment of Pyrin gene mutations in Turks with Familial Mediterranean fever.
Human Mutation 11;456-460, 1998.
156. M. Shohat, R. Lotan, N. Magal, Y. Danon, G. Ogur, G. Tokguz, M. Schlezinger, A.
Schwabe, G. Halpern, N. Fischel-Ghodsian, D. Kastner, T. Shohat, J.I. Rotter.
Amyloidosis in familial Mediterranean fever is associated with a specific ancestral
haplotype in the MEFV locus.
Molecular Genetics and Metabolism 65;197-202, 1998.
157. M. Shohat, C. Sher.
Congenital deficiency of APC and Down syndrome screening.
Prenatal Diagnosis 17:883-890, 1998.
158. Y. Udler, G.J. Halpern, M. Shohat, D. Cohen.
Tsukahara syndrome of radio-ulnar synostosis, short stature, microcephaly, scoliosis
and mental retardation.
Am J Med Genet 80;526-528, 1998.
159. M. Shohat, S. Ashkenazi
Pediatrics (Part A,B) (Textbook),
Dionon, Tel Aviv Univ,
Fifth edition, updated, pp 1-697, 1998.
160. M. Gorski, A. Bukai, M. Shohat.
Genetic influence on the prevalence of Torus Palatinus.
Am J Med Genet 75;138-140, 1998.
161. S. Lev-Ran, M. Shohat
Congenital deafness – recent genetic aspects.
Harefuah 1998 Oct;135(7-8):52-55.
162. L. Jaber, G.J. Halpern, M. Shohat.
The impact of consanguinity worldwide.
Community Genetics 1:12-17, 1998.
163. M. Shohat, D.L. Rimoin.
Genetics.
In: Pediatrics-Board Review Series. Ed. L. Miller,
Williams & Wilkins, Baltimore, in preparation, 1998.
164. M. Shohat, D. Kastner.
The genetics of Familial Mediterranean Fever.
In: R.A. King, J.I. Rotter, A.G. Motulsky (Eds): The genetic basis of common
diseases.
Oxford University press. in preparation, 1998,
165. M. Shohat.
The skeletal dysplasias. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 633-641, 1998.
166. M. Shohat.
Genetic diseases. In: Pediatrics (Part A,B) (Textbook), edited by
M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 61-80, 1998.
167. D. Lev, M. Shohat.
Inborn errors of metabolism. In: Pediatrics (Part A,B) (Textbook),
edited by M. Shohat, S. Ashkenazi, Dionon,
Tel Aviv Univ, pp. 121-152, 1998.
168. A. Dvir, M. Shohat.
The gene causing FMF.
Pediatric Update 25;23-28, 1998.
169. A. Dvir, M. Shohat.
The gene causing FMF.
Internal Medicine Update 21;33-37, 1998.
170. O. Propheta, N. Magal, M. Shohat, N. Eyal, N. Navot, M. Horowitz.
A benign polymorphism in the aspartoacylase gene may cause misinterpretation of
Canavan gene testing.
Euro J Hum Genet 6;635-637, 1998.
171. D. Wilkin, G. Mortier, C. Johnson, M. Jones, A. Paepe, M. Shohat, R. Wildin, R. Falk,
D. Cohen.
Correlation of linkage data with clinical features in 8 families with Stickler syndrome.
Am J Med Genet 80(2):121-7, 1998.
172. M. Shohat, N. Fischel-Ghodsian, C. Legum, G.J. Halpern.
Aminoglycoside-induced deafness associated with the mitochondrial DNA mutation
A1555G.
Am J Otolaryngology 20;64-67, 1999.
173. E. Michaelovsky, A. Frisch, R. Rockah, L. Peleg, N. Magal, M. Shohat, R. Weizman.
A novel allele in the promotor region of the human serotonin transporter gene.
Molecular Psychiatry 4;97-99, 1999.
174. A. Amir, Y. Wolf, Y. Ezra, M. Shohat, C. Sher, D.J. Hauben.
Pharyngeal flap for velopharyngeal incompetence in patients with myotonic
dystrophy.
Ann Plast Surg 42:549-52, 1999.
175. D. Carmi, M. Shohat, A. Metzker, Z. Dickerman.
Growth, puberty, and endocrine functions in patients with neurofibromatosis type 1
(NF-1) – a longitudinal study.
Pediatrics 103;1257-62, 1999.
176. M. Shohat, N. Magal, T Shohat, X. Chen, T. Dagan, A. Mimouni, Y. Danon, R. Lotan,
G. Ogur, A. Sirin, M. Schlezinger, G.J. Halpern, A. Schwabe, D. Kastner, J.I. Rotter,
N. Fischel-Ghodsian.
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an
association between Met694Val and amyloidosis.
Eur J Hum Genet 7;287-292, 1999.
177. L. Basel-Vanagaite, M. Shohat.
Further delineation of spondyloepimetaphyseal dysplasia Shohat type, and a review
of the literature.
J Endocrin Genet 1;21-26, 1999.
178. T. Sobe, P. Erlich, A. Berry, M. Korostichevsky, S. Vreugde, M. Shohat, K.B.
Avraham, B. Bonné-Tamir.
High frequency of the deafness-associated 167delT mutation in the Connexin 26
(GJB2 ) gene in Israeli Ashkenazim.
Am J Med Genet 86;499-500, 1999.
179. J. Yeshaya, R. Shalgi, M. Shohat, L. Avivi.
FISH-detected delay in replication timing of mutated FMR1 alleles on both active and
inactive X-chromosomes.
Human Genetics 105;86-97, 1999.
180. A. Mager, S. Lalezari, T. Shohat, Y. Birnbaum, Y. Adler, N. Magal, M. Shohat.
Methylenetetrahydrofolate reductase genotypes and early-onset coronary artery
disease.
Circulation 100(24):2406-2410, 1999.
181. L. Jaber, B. Eisenstein, M. Shohat.
Blood pressure measurements in Israeli Arab children and adolescents.
IMAJ 2;118-121, 2000.
182. T. Shohat, M.S. Green, O. Nakar, A. Ballin, P. Duvdevani, A. Cohen, M. Shohat.
Gender differences in the reactogenicity of Measles-Mumps-Rubella vaccine.
IMAJ 2;192-195, 2000.
183. N. Stoffman, N. Magal, T. Shohat, R. Lotan, S. Koman, A. Oron, Y.L. Danon, G.J.
Halpern, Y. Lifshitz, M. Shohat.
Higher than expected carrier rates for familial Mediterranean fever in various
Jewish ethnic groups.
Eur J Hum Genet 8;307-310, 2000.
184. A. Mimouni, N. Magal, N. Stoffman, T. Shohat, A. Minasian, M. Krasnov, G.J.
Halpern, J.I. Rotter, N. Fischel-Ghodsian, Y.L. Danon, M. Shohat.
Familial Mediterranean fever: Effects of genotype and ethnicity on inflammatory
attacks and amyloidosis.
Pediatrics 105(5);(1150-1151 abstr); e70, 2000.
185. Y. Bykhovskaya, X. Estivill, K. Taylor, T. Hang, M. Hamon, R.A.M.S. Casano, H.
Yang, J.I. Rotter, M. Shohat, N. Fischel-Ghodsian.
Candidate locus for a nuclear modifier gene for maternally inherited deafness.
Am J Hum Genet 66;1905-1910, 2000.
186. V. Drasinover, S. Ehrlich, N. Magal, E. Taub, V. Libman, T. Shohat, GJ. Halpern, M.
Shohat.
Increased transmission of intermediate alleles of the FMR1 gene compared with
normal alleles among female heterozygotes.
Am J Med Genet 93;155-157, 2000.
187. Y. Molad, E. Gal, N. Magal, J. Sulkes, M. Mukamel, A. Weinberger, S. Lalazari, M.
Shohat.
Renal outcome and vascular morbidity in systemic lupus erythematosus (SLE): Lack
of association with the angiotensin-converting enzyme gene polymorphism.
Semin Arthritis Rheum 30;132-137, 2000.
188. D.H. Cohn, T. Shohat, M. Yahav, T. Ilan, G. Rechavi, L. King, M. Shohat.
A locus for an autosomal dominant form of progressive renal failure and
hypertension at chromosome 1q21.
Am J Hum Genet 67;647-651, 2000.
189. T.C. Falik-Zaccai, E. Shachak, D. Abeliovich, I. Lerer, R. Shefer, R. Carmi, L. Ries,
M. Frydman, M. Shohat, Z. Borochowitz.
Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and
molecular characterization.
IMAJ 2;601-604, 2000.
190. Y. Udler, G.J. Halpern, R.S. Lachman, D.L. Rimoin, M. Shohat,
Pathological fractures in spondyloenchondrodysplasia: Case Report.
Pediatr Radiol 30;119-120, 2000.
191. T. Sobe, S. Vreugde, H. Shahin, M. Berlin, N Davis, M. Kanaan, Y. Yaron, A. Orr-
Urtreger, M. Frydman, M. Shohat, K.B. Avraham.
The prevalence and expression of inherited connexin 26 mutations associated with
nonsyndromic hearing loss in the Israeli population.
Hum Genet 106;50-57, 2000.
192. M. Shohat, S. Ashkenazi
Pediatrics (Part A,B) (Textbook),
Dionon, Tel Aviv Univ,
Sixth edition, updated, pp 1-710, 2000.
193. M. Shohat (August 2000)
Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington, Seattle.
1997-2000. Available at http://www.genetests.org.
194. I. Bar-Hava, M. Yitzhak, H. Krissi, M. Shohat, J. Shalev, B. Czitron, Z. Ben-Rafael, R.
Orvieto.
Triple-test screening in In Vitro Fertilization pregnancies.
J Assisted Rep Genet 18(4);206-209, 2001.
195. Y. Senecky, G.J. Halpern, D. Inbar, J. Attias, M. Shohat.
Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in
siblings.
Am J Med Genet 101;195-197, 2001.
196. Y. Bykhovskaya, H. Yang, K. Taylor, T. Hang, R.Y.M. Tun, X. Estivill, R.A.M.S.
Casano, K. Majamaa, M. Shohat, N. Fischel-Ghodsian.
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium
mapping of a nuclear modifier gene for maternally inherited deafness.
Genetics in Medicine 3(3):177-180, 2001.
197. T. Ilan, T. Shohat, A. Tobar, N. Magal, M. Yahav, G.J. Halpern, G. Rechavi, M.
Shohat.
Autosomal dominant nephritis with renal failure of non-Alport type: clinical and
molecular studies.
IMAJ 3:488-491, 2001.
198. Y. Udler, A. Kauschansky, J. Yeshaya, J. Freedman, U. Barkai, A. Tobar, E. Okon,
G.J. Halpern, M. Shohat, C. Legum.
Phenotypic expression of tissue mosaicism in a 45,X/46,X,dic(Y)(q11.2) female.
Am J Med Genet 102;318-323, 2001.
199. H. Toledano-Alhadef, L. Basel-Vanagaite, N. Magal, B. Davidov, S. Ehrlich, V.
Drasinover, E. Taub, G.J. Halpern, N. Ginott, M. Shohat.
Fragile X carrier screening and the prevalence of premutation and full mutation
carriers in Israel.
Am J Hum Genet 69;351-360, 2001.
200. M. Gal Tanamy, N. Magal, G.J. Halpern, L. Jaber, M. Shohat.
Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic
type between D5S394 and D5S2069 on chromosome 5qter.
Am J Med Genet 104;152-156, 2001.
201. N. Tsirulnikov, M. Shohat.
Microarray technology – clinical aspects.
Harefuah 140;1072-1077, 2001.
202. G.J. Halpern, A. Mimouni, M. Shohat.
E148Q of the MEFV gene causes amyloidosis in familial Mediterranean fever
patients. (Reply to Letter).
Pediatrics 108;215, 2001.
203. I. Toudjarska, M.W. Kilpatrick, P. Lembessis, S. Carra, G.L. Harton, M.E. Sisson,
S.H. Black, H.J. Stern, Z. Gelman-Kohan, M. Shohat, P. Tsipouras.
Novel approach to the molecular diagnosis of Marfan syndrome: Application to
sporadic cases and in prenatal diagnosis.
Am J Med Genet 99;294-302, 2001.
204. A. Zoossmann-Diskin, A. Joel, M. Liron, B. Kerem, M. Shohat, L. Peleg.
Protein electrophoretic markers in Israel: compilation of data and genetic affinities.
Annals of Human Biology 29(2);142-175, 2002.
205. A. Mager, A. Battler, Y. Birnbaum, N. Magal, M. Shohat.
Plasma homocysteine, methylenetetrahydrofolate reductase genotypes, and age at
onset of symptoms of myocardial ischemia.
Am J Cardiol 89;919-923, 2002.
206. L. Jaber, A. Nahmani, G.J. Halpern, M. Shohat.
Facial clefting in an Arab town in Israel.
Clin Genet 61;448-453, 2002.
207. L. Basel-Vanagaite, M. Shohat, Y. Udler, B. Karmazin, O. Levit, P. Merlob.
Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal
abnormalities: Branchio-Oto-Cardio-Skeletal (BOCS) syndrome?
Am J Med Genet 113;78-81, 2002.
208. A. Chkhotua, M. Shohat, A. Tobar, N. Magal, E. Kaganovski, Z. Shapira, A. Yussim.
Replicative senescence in organ transplantation – mechanisms and significance.
Transplant Immunology 9;165-171, 2002.
209. J. Yeshaya, O. Nahum, C. Legum, Y. Udler, M. Shohat.
One SHOX can make you short.
J Endocrin Genet 3;3-12, 2002.
210. M. Shohat (updated November 2002)
Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington,
Seattle.
1997-2002. Available at http://www.genetests.org.
211. M. Shohat (updated January 2003)
Familial Dysautonomia in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington,
Seattle.
1999-2003. Available at http://www.genetests.org.
212. L. Basel-Vanagaite, N. Marcus, G. Klinger, M. Shohat, O. Levit, B. Karmazin, E.
Taub, L. Sirota.
New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early
death.
Am J Med Genet 119A;200-206, 2003.
213. M. Mukamel, B. Karmazyn, L. de Vries, G. Horev, M. Shohat.
Brachyolmia and spinal stenosis.
Am J Med Genet 120A;272-275, 2003.
214. M. Shohat, H. Frimer, V. Shohat-Levy, H. Esmailzadeh, Z. Appelman, Z. Ben-Neriah,
H. Dar, A. Orr-Urtreger, A. Amiel, R. Gershoni, E. Manor, G. Barkai, S. Shalev, Z.
Gelman-Kohen, O. Reish, D. Lev, B. Davidov, B. Goldman.
Prenatal diagnosis of Down Syndrome: Ten year experience in the Israeli
population.
Am J Med Genet 122A;215-222, 2003.
215. L. Basel-Vanagaite, A. Alkelai, R. Straussberg, N. Magal, D. Inbar, M. Mahajna, M.
Shohat.
Mapping of a new locus for autosomal recessive nonsyndromic mental retardation in
the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.
J Med Genet 40;729-732, 2003.
216. I. del Castillo, M.A. Moreno-Pelayo, F.J. del Castillo, Z. Brownstein, S. Marlin, Q.
Adina, D.J. Cockburn, A. Pandya, K.R. Siemering, G. Parker Chamberlin, E. Ballana,
W. Wuyts, A.T. Maciel-Guerra, A. Alvarez, M. Villamar, M. Shohat, D. Abeliovich, H-
H.M. Dahl, X. Estivill, P. Gasparini, T. Hutchin, W.E. Nance, E.L. Sartorato, R.J.H.
Smith, G. van Camp, K.B. Avraham, C. Petit, F. Moreno.
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the
DFNB1 locus in hearing-impaired subjects: a multicenter study.
Am J Hum Genet 73;1452-1458, 2003.
217. O. Margalit, L. Eisenbach, N. Amariglio, N. Kaminski, A. Harmelin, R. Pfeffer, M.
Shohat, G. Rechavi, R. Berger.
Overexpression of a set of genes, including WISP-1, common to pulmonary
metastases of both mouse D122 Lewis lung carcinoma and B16-F10.9 melanoma
cell lines.
Br J Cancer 89;314-319, 2003.
218. V. Teplitsky, D. Huminer, J. Zoldan, S. Pitlik, M. Shohat, M. Mittelman.
Hereditary partial transcobalamin II deficiency with neurologic, mental and
hematologic abnormalities in children and adults.
IMAJ 5;868-872, 2003.
219. M. Shohat
It’s all Genetics
Dionon, Tel Aviv Univ, pp.1-473, 2003.
220. L. Basel-Vanagaite, R. Straussberg, H. Ovadia, A. Kaplan, N. Magal, Z. Shorer, H.
Shalev, C. Walsh, M. Shohat.
Infantile bilateral striatal necrosis maps to chromosome 19q.
Neurology 62;87-90, 2004.
221. E. Zunz, D. Abeliovich, G.J. Halpern, N. Magal, M. Shohat.
Myotonic dystrophy – no evidence for preferential transmission of the mutated allele:
a prenatal analysis.
Am J Med Genet 127A;50-53, 2004.
222. L. de Vries, A. Kauschansky, M. Shohat, M. Phillip.
Familial central precocious puberty suggests autosomal dominant inheritance.
J Clin Endocrinol Metab 89;1794-1800, 2004.
223. Z. Brownstein, T. Ben-Yosef, O. Dagan, M. Frydman, D. Abeliovich, M. Sagi, F.A.
Abraham, R. Taitelbaum-Swead, M. Shohat, M. Hildesheimer, T.B. Friedman, K.B.
Avraham.
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with
nonsyndromic hearing loss foreshadows retinitis pigmentosa.
Pediatr Res 55;995-1000, 2004.
224. D. Gothelf, G. Presburger, A.H. Zohar, M. Burg, A. Nahmani, M. Frydman, M.
Shohat, D. Inbar, A. Aviram-Goldring, J. Yeshaya, T. Steinberg, Y. Finkelstein, A.
Frisch, A. Weizman, A. Apter.
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion)
syndrome.
Am J Med Genet Part B 126;99-105, 2004
225. Y. Bykhovskaya, E. Mengesha, D. Wang, H. Yang, X. Estivill, M. Shohat, N. Fischel-
Ghodsian.
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss
associated with the mitochondrial A1555G mutation.
Mol Genet Metab 82;27-32, 2004.
226. A. Zoossmann-Diskin, E. Gazit, L. Peleg, M. Shohat, D. Turner.
844ins68 in the cystathionine -synthase gene in Israel and review of its distribution
in the world.
Anthropologischer Anzeiger 62;147-155, 2004.
227. S. Avigad, D. Peleg, D. Barel, H. Benyaminy, N. Ben-Baruch, E. Taub, M. Shohat, Y.
Goshen, I. Cohen, I. Yaniv, R. Zaizov.
Prenatal diagnosis in Li-Fraumeni syndrome.
J Pediatr Hematol Oncol 26;541-545, 2004.
228. M. Shohat, S. Ashkenazi
Pediatrics (Part A,B) (Textbook),(*)
Dionon, Tel Aviv Univ, pp.1-720, 1985.
(*) Seventh edition, updated, pp 1-749, 2004.
229. Y. Bykhovskaya, E. Mengesha, D. Wang, H. Yang, X. Estivill, M. Shohat, N. Fischel-
Ghodsian.
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G
mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and
GTPBP3.
Mol Genet Metab 83;199-206, 2004.
230. M. Shohat (updated November 2004)
Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington, Seattle.
1997-2004. Available at http://www.genetests.org.
231. M. Shohat (updated January 2005)
Familial Dysautonomia in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington,
Seattle.
2003-2005. Available at http://www.genetests.org.
232. H. Baris, C. Legum, L. Levin, N. Magal, V. Drasinover, W-H. Tan, G.J. Halpern, T.
Shohat, M. Shohat.
A putative new locus for an autosomal recessive cerebellar ataxia syndrome on
chromosome 22q11. (Letter).
Clin Genet 68;185-187, 2005.
233. E.G. Stoupel, H. Frimer, Z. Appelman, Z. Ben-Neriah, H. Dar, M.D. Fejgin, R.
Gershoni-Baruch, E. Manor, G. Barkai, S. Shalev, Z. Gelman-Kohan, O. Reish, D.
Lev, B. Davidov, B. Goldman, M. Shohat.
Chromosome aberration and environmental physical activity: Down syndrome and
solar and cosmic ray activity, Israel, 1990 – 2000.
Int J Biometeorol 50;1-5, 2005.
234. C. Bergmann, J. Senderek, E. Windelen, F. Küpper, I. Middeldorf, F. Schneider, C.
Dornia, S. Rudnik-Schöneborn, M. Konrad, C.P. Schmitt, T. Seeman, T.J. Neuhaus,
U. Vester, J. Kirfel, R. Büttner, K. Zerres, and members of the APN
(Arbeitsgemeinschaft für Pädiatrische Nephrologie): … M. Shohat (Petah Tikva,
Israel) …
Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive
polycystic kidney disease (ARPKD).
Kidney Int 67;829-848, 2005.
235. A. Mager, N. Koren-Morag, M. Shohat, D. Harell, A. Battler.
Family history, plasma homocysteine and age at onset of symptoms of myocardial
ischemia in patients with different methylenetetrahydrofolate reductase genotypes.
Am J Cardiol 95;1420-1424, 2005.
236. E.M. Botzenhart, A. Green, H. Ilyina, R. König, R.B. Lowry, I.F.M. Lo, M. Shohat, L.
Burke, J. McGaughran, R. Chafai, G. Pierquin, R.C. Michaelis, M.L. Whiteford, K.O.J.
Simola, B. Rösler, J. Kohlhase.
SALL1 mutation analysis in Townes-Brocks syndrome: Twelve novel mutations and
expansion of the phenotype.
Hum Mut 26:282, 2005.
237. L. Basel-Vanagaite, R. Attia, M. Yahav, R.J. Ferland, L. Anteki, C.A. Walsh, T.
Olender, R. Straussberg, N. Magal, E. Taub, V. Drasinover, A. Alkelai, D. Bercovich,
G. Rechavi, A.J. Simon, M. Shohat.
The CC2D1A, a member of a new gene family with C2 domains, is involved in
autosomal recessive nonsyndromic mental retardation.
J Med Genet 43;203-210, 2006.
238. O. Margalit, H. Amram, N. Amariglio, A.J. Simon, S. Shaklai, G. Granot, N. Minsky, A.
Shimoni, A. Harmelin, D. Givol, M. Shohat, M. Oren, G. Rechavi.
BCL6 is regulated by p53 through a response element frequently disrupted in B-cell
non-Hodgkin's lymphoma.
Blood 107;1599-1607, 2006.
239. N. Weintrob, J. Drouin, S. Vallette-Kasic, E. Taub, D. Marom, Y. Lebenthal, G.
Klinger, E. Bron-Harlev, M. Shohat.
Low estriol levels in the maternal triple-marker screen as a predictor of isolated
adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Pediatrics 117;e322-e327, 2006.
240. Q. Yan, Y. Bykhovskaya, R. Li, E. Mengesha, M. Shohat, X. Estivill, N. Fischel-
Ghodsian, M-X. Guan.
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-
methyltransferase is a putative nuclear modifier gene for the phenotypic expression
of the deafness-associated 12S rRNA mutations.
BBRC 342;1130-1136, 2006.
241. M-X. Guan, Q. Yan, X. Li, Y. Bykhovskaya, J. Gallo-Teran, P. Hajek, N. Umeda, H.
Zhao, G. Garrido, E. Mengesha, T. Suzuki, I. del Castillo, J.L. Peters, R. Li, Y. Qian,
X. Wang, E. Ballana, M. Shohat, J. Lu, X. Estivill, K. Watanabe, N. Fischel-Ghodsian.
Mutation in TRMU related to transfer RNA modification modulates the
phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA
mutations.
Am J Hum Genet 79;291-302, 2006.
242. L. Basel-Vanagaite, R. Straussberg, M.J. Friez, D. Inbar, L. Korenreich, M. Shohat,
C.E. Schwartz.
Expanding the phenotypic spectrum of L1CAM-associated disease.
Clin Genet 69: 414-419, 2006.
243. L. Basel-Vanagaite, B. Davidov, J. Friedman, J. Yeshaya, N. Magal, V. Drasinover,
M. Shohat.
Amniotic trisomy 11 mosaicism – is it a benign finding?
Prenat Diagn 26:778-781, 2006.
244. L. Basel-Vanagaite, L. Muncher, R. Straussberg, M. Pasmanik-Chor, M. Yahav, L.
Rainshtein, C.A. Walsh, N. Magal, E. Taub, V. Drasinover, H. Shalev, R. Attia, G.
Rechavi, A.J. Simon, M. Shohat.
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Ann Neurol 60:214-222, 2006.
245. S. Simchoni, E. Friedman, B. Kaufman, R. Gershoni-Baruch, A. Orr-Urtreger, I.
Kedar-Barnes, R. Shiri-Sverdlov, E. Dagan, S. Tsabari, M. Shohat, R. Catane, M-C.
King, A. Lahad, E. Levy-Lahad.
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2
mutations in the Ashkenazi Jewish population.
Proc Natl Acad Sci USA 103:3770-3774, 2006.
246. D. Gothelf, E. Michaelovsky, A. Frisch, A.H. Zohar, G. Presburger, M. Burg, A.
Aviram-Goldring, M. Frydman, J. Yeshaya, M. Shohat, M. Korostishevsky, A. Apter,
A. Weizman.
Association of the low activity COMT 158Met allele with ADHD and OCD in subjects
with velocardiofacial syndrome.
Int J Neuropsychopharmacol 10:301-308, 2007.
247. L. Basel-Vanagaite, A. Pelet, Z. Steiner, A. Munnich, Y. Rozenbach, M. Shohat, S.
Lyonnet.
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab
inbred family segregating Hirschsprung disease.
Eur J Hum Genet 15:242-245, 2007.
248. L. Basel-Vanagaite, E. Taub, G.J. Halpern, V. Drasinover, N. Magal, B. Davidov, J.
Zlotogora, M. Shohat.
Genetic screening for autosomal recessive nonsyndromic mental retardation in an
isolated population in Israel.
Eur J Hum Genet, 15:250-253, 2007.
249. L. Basel-Vanagaite, R. Attia, A. Ishida-Yamamoto, L. Rainshtein, D. Ben Amitai, R.
Lurie, M. Pasmanik-Chor, M. Indelman, A. Zvulunov, S. Saban, N. Magal, E.
Sprecher, M. Shohat.
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14,
encoding type II transmembrane serine protease matriptase.
Am J Hum Genet 80:467-477, 2007.
250. O. Tavor, M. Shohat, S. Lipitz.
The relationship between perinatal outcome of singleton pregnancies and isolated
highly elevated levels of maternal serum human chorionic gonadotropin at mid
gestation.
IMAJ 9:509-512, 2007.
251. H.N. Baris, I. Kedar, G.J. Halpern, T. Shohat, N. Magal, M.D. Ludman, M. Shohat.
Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi
anemia and Bloom syndrome.
IMAJ 9:847-850, 2007.
252. M. Shohat, G.J. Halpern (updated February 2007)
Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington, Seattle.
1997-2007. Available at http://www.genetests.org.
253. M. Shohat, G.J. Halpern (updated October 2007)
Familial Dysautonomia in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington,
Seattle.
2005-2007. Available at http://www.genetests.org.
254. A. Zoossmann-Diskin, S. Swinburne, M. Shohat, L. Peleg, E. Gazit, D. Turner.
Typing classical polymorphisms by real-time PCR: analysis of the GPT and ALAD
protein polymorphisms in the Jewish populations.
Am J Hum Biol 20:490-492, 2008.
255. I. Kedar-Barnes, P. Rozen, M. Shohat, H.N. Baris.
Genetic disease in the Ashkenazim: Role of a founder effect.
In: Encyclopedia of Life Sciences (ELS). John Wiley & Sons, Ltd: Chichester.
Published Online: July 15, 2008.
256. L. Basel-Vanagaite, E. Taub, V. Drasinover, N. Magal, A. Brudner, J. Zlotogora, M.
Shohat.
Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy
with respiratory distress 1 in an isolated population in Israel.
Genet Test 12:53-56, 2008.
257. L. Avrahami, S. Maas, M. Pasmanik-Chor, L. Rainshtein, N. Magal, J. Smitt, J. van
Marle, M. Shohat, L. Basel-Vanagaite.
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of
the phenotype.
Clin Genet 74:47-53, 2008.
258. N. Auslender, D. Bandah, L. Rizel, D.M. Behar, M. Shohat, E. Banin, S. Allon-Shalev,
R. Sharony, D. Sharon, T. Ben-Yosef.
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases
among non-Ashkenazi Jews.
Genet Test 12:289-294, 2008.
259. A. Zoossmann-Diskin, E. Gazit, L. Peleg, M. Shohat, D. Turner.
Thrombophilic polymorphisms in Israel.
Blood Cells Mol Dis 41:230-233, 2008.
260. A. Mager, N. Koren-Morag, M. Shohat, A. Dadashev, R. Kornowski, A. Battler, D.
Hasdai.
Impact of ethnicity and MTHFR genotype on age at onset of coronary artery disease
in women in Israel.
IMAJ 10:516-519, 2008.
261. M. Tenenbaum, S. Lavi, N. Magal, G.J. Halpern, I. Bolocan, M. Boulos, M.
Kapeliovich, M. Shohat, H. Hammerman.
Identification of the gene causing Long QT Syndrome in an Israeli family.
IMAJ 10:809-811, 2008.
262. H.N. Baris, A. Zlotogorski, G. Peretz-Amit, V. Doviner, M. Shohat, H. Reznik-Wolf, E.
Pras.
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston
syndrome) broadens its genotypic basis.
Br J Dermatol 159:1373-1376, 2008.
263. O. Reish, Z.U. Borochowitz, V. Adir, M. Shohat, M. Karpati, A. Shtorch, A. Orr-
Urtreger, Y. Yaron, S. Shalev, F. Fares, R. Gershoni-Baruch, T.C. Falik-Zaccai, D.
Chapman-Shimshoni.
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the
Oriental Jewish group to the cystic fibrosis panel.
Genet Med 11:101-103, 2009.
264. M. Shohat, G.J. Halpern (updated April 2009)
Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington, Seattle.
1997-2009. Available at http://www.genetests.org.
265. J. Yeshaya, I. Amir, A. Rimon, J. Freedman, M. Shohat, L. Avivi.
Microdeletion syndromes disclose replication timing alterations of genes unrelated to
the missing DNA.
Mol Cytogenet 2:11, 2009.
266. A. Saada, R.O. Vogel, S.J. Hoefs, M.A. van den Brand, H.J. Wessels, P.H. Willems,
H. Venselaar, A. Shaag, F. Barghuti, O. Reish, M. Shohat, M.A. Huynen, J.A.M.
Smeitink, L.P. van den Heuvel, L.G. Nijtmans.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting
complex 1 assembly protein, cause fatal neonatal mitochondrial disease.
Am J Hum Genet 84:718-727, 2009.
267. L. Basel-Vanagaite, O. Sarig, D. Hershkovitz, D. Fuchs-Telem, D. Rapaport, A. Gat,
G. Isman, I. Shirazi, M. Shohat, C.D. Enk, E. Birk, J. Kohlhase, U. Matysiak-Scholze,
I. Maya, C. Knopf, A. Peffekoven, H.C. Hennies, R. Bergman, M. Horowitz, A. Ishida-
Yamamoto, E. Sprecher.
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS
syndrome.
Am J Hum Genet 85:254-263, 2009.
268. O. Reish, M. Shohat, N. Magal, R. Pesso, Z.U. Borochowitz, V. Adir, M. Karpati, D.C.
Shimshoni.
Dynamic modification strategy of the Israeli prenatal carrier screening protocol:
inclusion of the oriental Jewish group to the cystic fibrosis panel – update.
Genet Med 11:372, 2009.
269. A. Vardi, Y. Anikster, A. Eisenkraft, M. Shohat, J. Abu-Much, S. Eisenkraft, B. Sredni,
U. Nir.
A new genetic isolate of acrodermatitis enteropathica with a novel mutation.
Br J Dermatol 160:1346-1348, 2009.
270. J.O. Korbel, T. Tirosh-Wagner, A.E. Urban, X.N. Chen, M. Kasowski, L. Dai, F.
Grubert, C. Erdman, M.C. Gao, K. Lange, E.M. Sobel, G.M. Barlow, A.S. Aylsworth,
N.J. Carpenter, R.D. Clark, M.Y. Cohen, E. Doran, T. Falik-Zaccai, S.O. Lewin, I.T.
Lott, B.C. McGillivray, J.B. Moeschler, M.J. Pettenati, S.M. Pueschel, K.W. Rao, L.G.
Shaffer, M. Shohat, A.J. Van Riper, D. Warburton, S. Weissman, M.B. Gerstein, M.
Snyder, J.R. Korenberg.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution
analysis of human segmental trisomies.
Proc Natl Acad Sci USA 106:12031-12036, 2009.
271. A. Mager, K. Orvin, N. Koren-Morag, I.E. Lev, A. Assali, R. Kornowski, M. Shohat, A.
Battler, D. Hasdai.
Impact of homocysteine-lowering vitamin therapy on long-term outcome of patients
with coronary artery disease.
Am J Cardiol 104:745-749, 2009.
272. I. Avisar, M. Lusky, A. Robinson, M. Shohat, S. Dubois, V. Raymond, D.D. Gaton.
The novel Y371D myocilin mutation causes an aggressive form of juvenile open
angle glaucoma in a Caucasian family from the Middle East.
Molecular Vision 15:1945-1950, 2009.
273. V. Shkalim, H.N. Baris, G. Gal, R. Gleiss, S. Calderon, M. Wessels, A. Maat-Kievit, B.
Menten, E. De Baere, R.C. Hennekam, A. Schirmacher, S. Bale, M. Shohat, P.J.
Willems.
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate
resembling Schilbach-Rott syndrome.
Am J Med Genet A 149A:2700-2705, 2009.
274. M. Shohat, G.J. Halpern (updated June 2010)
Familial Dysautonomia in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington, Seattle.
1997-2010. Available at http://www.genetests.org.
275. E. Stoupel, E. Abramson, P. Israelevich, M. Shohat, J. Sulkes.
Gender and environment: general and monthly gender distribution of newborns and
cosmophysical parameters.
Health 2:639-644, 2010.
276. R. Sukenik-Halevy, R. Pesso, N. Garbian, N. Magal, M. Shohat.
Large-scale population carrier screening for spinal muscular atrophy in Israel--effect
of ethnicity on the false-negative rate.
Genet Test Mol Biomarkers 14:319-324, 2010.
277. A.H. Messika, D.N. Kaluski, E. Lev, Z. Iakobishvili, M. Shohat, D. Hasdai, A. Mager.
Nutrigenetic impact of daily folate intake on plasma homocysteine and folate levels in
patients with different methylenetetrahydrofolate reductase genotypes.
Eur J Cardiovasc Prev Rehabil 17:701-705, 2010.
278. I. Maya, B. Davidov, L. Gershovitz, Y. Zalzstein, E. Taub, J. Coppinger, L.G. Shaffer,
M. Shohat.
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a
prenatal setting.
Prenat Diagn 30:1131-1137, 2010.
279. E. Birk, A. Har-Zahav, C.M. Manzini, M. Pasmanik-Chor, L. Kornreich, C.A. Walsh, K.
Noben-Trauth, A. Albin, A.J. Simon, L. Colleaux, Y. Morad, L. Rainshtein, D.J.
Tischfield, P. Wang, N. Magal, I. Maya, N. Shoshani, G. Rechavi, D. Gothelf, G.
Maydan, M. Shohat, L. Basel-Vanagaite.
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly
expressed in the brain limbic system.
Am J Hum Genet 87:694-700, 2010.
280. L. Basel-Vanagaite, A. Raas-Rotchild, L. Kornreich, A. Har-Zahav, J. Yeshaya, V.
Latarowski, I. Lerer, W.B. Dobyns, M. Shohat.
Familial hydrocephalus with normal cognition and distinctive radiological features.
Am J Med Genet A 152A:2743-2748, 2010.
281. Y. Kilim, N. Magal, M. Shohat.
Expanding the panel of MEFV mutations for routine testing of patients with a clinical
diagnosis of Familial Mediterranean Fever.
IMAJ 13:206-208, 2011.
282. G. Maydan, I. Noyman, A. Har-Zahav, Z. Ben Neriah, M. Pasmanik-Chor, A.
Yeheskel, A. Albin-Kaplanski, I. Maya, N. Magal, E. Birk, A.J. Simon, A. Halevy, G.
Rechavi, M. Shohat, R. Straussberg, L. Basel-Vanagaite.
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation
in PIGN.
J Med Genet 48:383-389, 2011.
283. M. Shohat, G.J. Halpern.
Familial Mediterranean fever – a review.
Genetics in Medicine 13:487-498, 2011.
284. H. Yonath, D. Marek-Yagel, H. Resnik-Wolf, A. Abu-Horvitz, H.N. Baris, M. Shohat,
M. Frydman, E. Pras E.
X inactivation testing for identifying a non-syndromic X-linked mental retardation
gene.
J Appl Genet 52:437-41, 2011.
285. Z. Brownstein, L.M. Friedman, H. Shahin, V. Oron-Karni, N. Kol, A. Abu Rayyan, T.
Parzefall, D. Lev, S. Shalev, M. Frydman, B. Davidov, M. Shohat, M. Rahile, S.
Lieberman, E. Levy-Lahad, M.K. Lee, N. Shomron, M-C. King, T. Walsh, M. Kanaan,
K.B. Avraham.
Targeted genomic capture and massively parallel sequencing to identify genes for
hereditary hearing loss in Middle Eastern families.
Genome Biol 2011 Sep 14;12(9):R89. [Epub ahead of print]
286. G. Borck, L. Rainshtein, S. Hellman-Aharony, A.E. Volk, K. Friedrich, E. Taub, N.
Magal, M. Kanaan, C. Kubisch, M. Shohat, L. Basel-Vanagaite.
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab
population in Israel.
Clin Genet 82:271-276, 2012.
287. L. Basel-Vanagaite, N. Zevit, A. Har Zahav, L. Guo, S. Parathath, M. Pasmanik-Chor,
A.D. McIntyre, J. Wang, A. Albin-Kaplanski, C. Hartman, D. Marom, A. Zeharia, A.
Badir, O. Shoerman, A.J. Simon, G. Rechavi, M. Shohat, R.A. Hegele, E.A. Fisher, R.
Shamir.
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by
mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
Am J Hum Genet 90:49-60, 2012.
288. R. Tomashov-Matar, G. Biran, I. Lagovsky, N. Kotler, A. Stein, B. Fisch, O. Sapir, M.
Shohat.
Severe combined immunodeficiency (SCID): From the detection of a new mutation to
preimplantation genetic diagnosis.
J Assist Reprod Genet 29:687-92, 2012.
289. L.G. Shaffer, M.P. Dabell, J.A. Rosenfeld, N.J. Neill, B.C. Ballif, J. Coppinger, N.R.
Diwan, K. Chong, M. Shohat, D. Chitayat.
Referral patterns for microarray testing in prenatal diagnosis.
Prenat Diagn 32:344-50. Erratum in: Prenat Diagn. 2012 Jun;32(6):611.
290. M. Shohat, G.J. Halpern (updated April 2012)
Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University of Washington, Seattle,
1997-2010. Available at http://www.genetests.org.
291. L. Basel-Vanagaite, B. Dallapiccola, R. Ramirez-Solis, A. Segref, H. Thiele, A.
Edwards, M.J. Arends, X. Miró, J.K. White, J. Désir, M. Abramowicz, M.L. Dentici, F.
Lepri, K. Hofmann, A. Har-Zahav, E. Ryder, N.A. Karp, J. Estabel, A K. Gerdin, C.
Podrini, N.J. Ingham, J. Altmüller, G. Nürnberg, P. Frommolt, S. Abdelhak, M.
Pasmanik-Chor, O. Konen, R.I. Kelley, M. Shohat, P. Nürnberg, J. Flint, K.P. Steel, T.
Hoppe, C. Kubisch, D.J. Adams, G. Borck.
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-
disability syndrome.
Am J Hum Genet 91:998-1010, 2012.
292. L. Basel-Vanagaite, T. Hershkovitz, E. Heyman, M. Raspall-Chaure, N. Kakar, P.
Smirin-Yosef, M. Vila-Pueyo, L. Kornreich, H. Thiele, H. Bode, I. Lagovsky, D. Dahary,
A. Haviv, M.W. Hubshman, M. Pasmanik-Chor, P. Nürnberg, D. Gothelf, C. Kubisch,
M. Shohat, A. Macaya, G. Borck.
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic
corpus callosum.
Am J Hum Genet 93:524-529, 2013.
293. S. Hellman-Aharony, P. Smirin-Yosef, A. Halevy, M. Pasmanik-Chor, A. Yeheskel, A.
Har-Zahav, I. Maya, R. Straussberg, D. Dahary, A. Haviv, M. Shohat, L. Basel-
Vanagaite.
Microcephaly thin corpus callosum ID syndrome caused by mutated TAF2.
Pediatr Neurol 49:411-416.e1, 2013.
294. Z. Brownstein, A. Abu-Rayyan, D. Karfunkel-Doron, S. Sirigu, B. Davidov, M. Shohat,
M. Frydman, A. Houdusse, M. Kanaan, KB. Avraham.
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic
capture and massively parallel sequencing.
Eur J Hum Genet 2013 Oct 9.2013.232. [Epub ahead of print]
295. D.M. Behar, B. Davidov, Z. Brownstein, T. Ben-Yosef, K.B. Avraham, M. Shohat.
The many faces of sensorineural hearing loss: One founder and two novel mutations
affecting one family of mixed Jewish ancestry.
Genet Test Mol Biomarkers 18:123-6, 2014.
296. D.M. Behar, L. Basel-Vanagaite, F. Glaser, M. Kaplan, S. Tzur, N. Magal, T. Eidlitz-
Markus, Y. Haimi-Cohen, G. Sarig, C. Bormans, M. Shohat, A. Zeharia.
Identification of a novel mutation in the PNLIP gene in two brothers with congenital
pancreatic lipase deficiency.
J Lipid Res 55:307-12, 2014.
297. P. Navon-Elkan, S.B. Pierce, R. Segel, T. Walsh, J. Barash, S. Padeh, A. Zlotogorski,
Y. Berkun, J.J. Press, M. Mukamel, I. Voth, P.J. Hashkes, L. Harel, V. Hoffer, E. Ling,
F. Yalcinkaya, O. Kasapcopur, M.K. Lee, R.E. Klevit, P. Renbaum, A. Weinberg-
Shukron, E.F. Sener, B. Schormair, S. Zeligson, D. Marek-Yagel, T.M Strom, M.
Shohat, A. Singer, A. Rubinow, E. Pras, J. Winkelmann, M. Tekin, Y. Anikster, M.C.
King, E. Levy-Lahad.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
N Engl J Med 370:921-31, 2014.
298. Michaelson-Cohen R, Gershoni-Baruch R, Sharoni R, Shohat M, Yaron Y, Singer A
Israeli Society of Medical Genetics NIPT Committee Opinion 072013:
Fetal Diagn Ther. 2014;36(3):242-4. doi: 10.1159/000360420. Epub 2014 Aug 13.
PMID: 25138112
299. Margel D, Benjaminov O, Ozalvo R, Shavit Grievink L, Kedar I, Yerushalmi R, Ben-
Aharon I, Neiman V, Yossepowitch O, Kedar D, Levy Z, Shohat M, Brenner B, Baniel
J, Rosenbaum E.
Personalized prostate cancer screening among men with high risk genetic
predisposition - study protocol for a prospective cohort study.
BMC Cancer. 2014 Jul 21;14:528. doi: 10.1186/1471-2407-14-528. PMID: 25047061
300. Maya I, Vinkler C, Konen O, Kornreich L, Steinberg T, Yeshaya J, Latarowski V.
Shohat M, Lev D, Baris HN.
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis
syndrome.
Am J Med Genet A. 2014 Aug;164A(8):1940-6. doi: 10.1002/ajmg.a.36583. Epub 2014
Apr 30. PMID: 24788350
301. Dvashi Z, Sar Shalom H, Shohat M, Ben-Meir D, Ferber S, Satchi-Fainaro R, Ashery-
Padan R, Rosner M, Solomon AS, Lavi S. Protein phosphatase magnesium dependent
1A governs the wound healing-inflammation-angiogenesis cross talk on injury.
Am J Pathol. 2014 Nov;184(11):2936-50. doi: 10.1016/j.ajpath.2014.07.022.
302. Familial Dysautonomia.
Shohat M, Weisz Hubshman M.
In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD,
Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet].
Seattle (WA): University of Washington, Seattle; 1993-2017.2003 Jan 21 [updated
2014 Dec 18].
303. Batzir NA, Shohat M, Maya I. Chromosomal Microarray Analysis (CMA) a Clinical
Diagnostic Tool in the Prenatal and Postnatal Settings.
Pediatr Endocrinol Rev. 2015 Sep;13(1):448-54. Review.
304. 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. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.
PMID: 25792360
305. Reinstein E, Orvin K, Tayeb-Fligelman E, Stiebel-Kalish H, Tzur S, Pimienta AL, Bazak
L, Bengal T, Cohen L, Gaton DD, Bormans C, Landau M, Kornowski R, Shohat M,
Behar DM. Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic
dysplasia.
Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16.
PMID: 25645515
306. Bardin R, Ashwal E, Davidov B, Danon D, Shohat M, Meizner I.
Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in
Amniotic Fluid Predict Fetal Prognosis?
Fetal Diagn Ther. 2016;39(1):50-5.
307. Monika Weisz Hubshman, Lina Basel-Vanagaite, Aviva Krauss, Osnat Konen, Yael
Levy, Ben Zion Garty, Pola Smirin-Yosef, Idit Maya, Irina Lagovsky, Ellen Taub,
Daphna Marom, Dafna Gaash, Mordechai Shohat, and Jerry Stein.
Homozygous Deletion of RAG1, RAG2 and TRAF6 Causes Severe Immune
Suppression and Osteopetrosis in Humans
Clin Genet. 2016 Nov 3. doi: 10.1111/cge.12916. [Epub ahead of print]
308. Eyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, Concetta Bormans, Shai Marcu
Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas-Rothschild, Dana Irge, Meytal
Landau, Mordechai Shohat, Xose S. Puente, Carlos Lopez-Otın, Doron M. Behar
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.
Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110.
309. Familial Mediterranean Fever.
Shohat M.
In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD,
Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet].
Seattle (WA): University of Washington, Seattle; 1993-2017. 2000 Aug 8 [updated
2016 Dec 15].
310. Maya I, Yacobson S, Kahana S, Yeshaya J, Tenne T, Agmon-Fishman I, Cohen-Vig L,
Shohat M, Basel-Vanagaite L, Sharony R. The cut-off value for normal nuchal
translucency evaluated by chromosomal microarray analysis.
Ultrasound Obstet Gynecol. 2017 Sep;50(3):332-335.
311. Reinstein E, Dersinover V, Lotan R, Gal-Tanhami M, Nachman IB, Eyal E, Lutfi J,
Magal N, Shohat M.
Mutations in ERGIC1 cause Arthrogryposis Multiplex Congenita, Neuropathic type.
Clin Genet. 2018 Jan;93(1):160-163.
312. Cohen L, Orenstein N, Weisz-Hubshman M, Bazak L, Davidov B, Reinstein E, Tzur S,
Behar D, Smirin-Yosef P, Salmon-Divon M, Gross A, Shohat M, Basel-Vanagaite L.
UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC
DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE.
Harefuah. 2017 Apr;156(4):212-216.
313. Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar
Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Racheli Berger, Lina Basel-Vanagaite,
Mordechai Shohat,
Where genotype is not predictive of phenotype: implications for genetic counseling
based on 21,594 CMA examinations. Genet Med. 2018 Jan;20(1):128-131
314. Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu
JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA,
Campeau PM, Shohat M, Lee BH.
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal
dysplasia.
J Clin Invest. 2017 Apr 3;127(4):1475-1484.
315. Reinstein E. Weisz Hubshman M., Shenhav R., Papaport V., Magal N., Jaber L.,
Shohat M.
Whole-exome sequencing identifies a homozygous mutation in CPSF3L gene leading
to a new syndrome associated with mental retardation and Coffin-Siris like changes.
Clin Genet. 2018 Jan;93(1):160-163.
316. Yahalom C, Blumenfeld A, Hendler K, Wussuki-Lior O, Macarov M, Shohat M, Khateb S. Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease. Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2157-2164.
317. Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. J Med Genet. 2019 May;56(5):340-346.
318. Salomon O, Barel O, Eyal E, Shnerb Ganor R, Kleinbaum Y, Shohat M: c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype. The Application of Clinical Genetics 2019:12 27–33
319. Rinat Bernstein Molho, Inbal Barnes Kedar, Mark D. Ludman, Gili Reznik, Hagit Baris Feldman, Nadra Nasser Samra, Avital Eilat, Tamar Peretz, Lilach Peled Peretz, Tamar Shapira, Nurit Magal, Marina Lifshitc Kalis, Rinat Yerushalmi, Chana Vinkler, Sari Liberman, Lina Basel Salmon, Mordechai Shohat, Ephrat Levy Lahad, Eitan Friedman, Lily Bazak, Yael Goldberg. The yield of full BRCA1/2 genotyping in Israeli Arab high risk breast/ ovarian cancer patients. Breast Cancer Res Treat. 2019 Nov;178(1):231-237.
320. Idit Maya , Sharon Perlman , Mordechai Shohat , Sarit Kahana , ShiriYacobson , Tamat Tenne , Ifaat Agmon-Fishman , Reut Tomashov Matar , LinaBasel-Salmon , Rivka Sukenik Halevy * Should we report 15q11.2 BP1–BP2 deletions and duplications in the prenatal setting? Journal: Journal of Clinical Medicine, 2020 Aug 11;9(8):2602.
321. Pode Shakked, Naomi; Barel, Ortal; Pode-Shakked, Ben; Eliyahu, Aviva; Singer, Amihood; Nayshool, Omri; Kol, Nitzan ; Raas Rothschild, Annick; Pras, Elon; Shohat, Mordechai. BRPF1-associated intellectual disability, ptosis and facial dysmorphism in a multiplex family. Mol Genet Genomic Med. 2019 Jun;7(6):e665.
322. Pode-Shakked B, Vivante A, Barel O, Padeh S, Marek-Yagel D, Veber A, Abudi S, Eliyahu A, Tirosh I, Shpilman S, Shril S, Hildebrandt F, Shohat M, Anikster Y. Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. BMC Med Genet. 2019 Mar 29;20(1):53
323. Daum H, Mor-Shaked H, Ta-Shma A, Shaag A, Silverstein S, Shohat M, Elpeleg O, Meiner V, Harel T: Grandparental genotyping enhances exome variant interpretation. Am J Med Genet A. 2020 Apr;182(4):689-696.
324. Raucher Sternfeld A, Sheffy A, Tamir A, Mizrachi Y, Assa S, Shohat M, Berger R, Lev D, Gindes L.: Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome. J Matern Fetal Neonatal Med. 2020 Jan 12:1-5. 325. Daum H, Meiner V, Michaelson-Cohen R, Sukenik-Halevy R, Zalcberg ML, Bar-Ziv A, Weiden AT, Scher SY, Shohat M, Zlotogora. Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? J.Eur J Hum Genet. 2020 Jul;28(7):938-942. 325. Idit Maya, Sarit Kahana, Ifaat Agmon-Fishman, Cochava Klein, Reut Matar, Racheli Berger, Mordechai Shohat, Lina Basel-Salmon, Reuven Sharony. Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome. In press: EJMG_2020_135_R1
326. Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24.PMID: 33111345
327. Raucher Sternfeld A, Sheffy A, Tamir A, Mizrachi Y, Assa S, Shohat M, Berger R, Lev D, Gindes L. Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome. J Matern Fetal Neonatal Med. 2020 Jan 12:1-5.
328. Daum H, Meiner V, Michaelson-Cohen R, Sukenik-Halevy R, Zalcberg ML, Bar-Ziv A, Weiden AT, Scher SY, Shohat M, Zlotogora. Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? J.Eur J Hum Genet. 2020 Jul;28(7):938-942.
329. Moshonov R, Hod K, Berger R. Shohat M. Yield overpower risk in amniocentesis performed to pregnant women at low risk for genetic diseases. Accepted to PLOS Genetics, 2021
330. Hagin D, Lahav D, Freund T, Shamai S, Brazowski E, Fishman S, Kurolap A, Baris Feldman H, Shohat M, Salomon O. Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma. J Clin Immunol. 2021 Feb;41(2):477-481.
331. Maya I, Smirin-Yosef P, Kahana S, Morag S, Yacobson S, Agmon-Fishman I, Matar R, Bitton E, Shohat M, Basel-Salmon L, Salmon-Divon M. A study of normal copy number variations in Israeli population. Hum Genet. 2021 Mar; 140(3):553-563.
332. Greenbaum, Lior; Ben-David, Merav; Nikitin, Vera; Gera, Orna; Barel, Ortal; Hersalis-Eldar, Adi; Shamash, Jana; Shimshoviz, Noam; Reznik-Wolf, Haike; Shohat, Mordechai; Dominissini, Dan; Pras, Elon; Dori, Amir. Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population. Annals of Clinical and Translational Neurology. 2021;8; 1260-1268 –https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.51362.
333. Justin A. Pater · Cindy Penney · Darren D. O’Rielly · Anne Griffin · Lara Kamal · Zippora Brownstein · Barbara Vona · Chana Vinkler · Mordechai Shohat · Ortal Barel8 · Curtis R. French · Sushma Singh · Salem Werdyani · Taylor Burt · Nelly Abdelfatah · Jim Houston · Lance P. Doucette · Jessica Squires · Fabian Glaser · Nicole M. Roslin · Daniel Vincent · Pascale Marquis · Geoffrey Woodland · Touati Benoukraf · Alexia Hawkey Noble · Karen B. Avraham · Susan G. Stanton · Terry Lynn Young. Autosomal dominant non syndromic hearing loss maps to DFNA33(13q34) and co segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Human Genetics, 2022. https://doi.org/10.1007/s00439-022-02444.
334. Ben Pode-Shakked, Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz Chacham, Naomi Pode Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, and Mordechai Shohat. Refining the phenotypic spectrum of KMT5B-associated syndromic developmental delay" JHG, 2021.
335. Noam Vaknin, Noy Azoulay , Erez Tsur, Kornelia Tripolszki, Alice Urzi, Arndt Rolfs 4, Peter Bauer, Reuven Achiron, Shlomo Lipitz, Yael Goldberg, Rachel Berger, Mordechai Shohat. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses Prenat Diagn. 2021 Dec 17. doi: 10.1002/pd.6077.
