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Dr. Ruth Nehama Sheffer, MD

 

Department of Genetics and

Metabolic Diseases

 

 

Born 15.7.53, Salford , England.

Immigrated to Israel March 1964.

Graduate of the Realistic-Humanistic class, Hebrew University Secondary School, Jerusalem.

Married and mother to 5 children.

Medical Experience

1973-1979: Hebrew University Medical School, Jerusalem, Israel.

1981-1982: Rotating internship, Kansai Medical University, Osaka, Japan.

1983-1989: Pediatric training, Hadassah Hospital, Jerusalem, Israel.

1987-1989: Academic Assistant, Pediatric department.

1989-1991: Medical Genetic Fellowship, Hadassah Hospital Human Genetics Department, Jerusalem, Israel.

8.1991-1.1992: Substitute Genetics Unit Head, Beilinson Hospital, Petach-Tikva, Israel.

4.1992-10.1993: Pediatrician, Kupat Holim Clalit, Jerusalem.

10.1993- Independent Pediatric Practice, affiliated with Clalit, Macabi, Meuhedet and Leumit Health Funds, Jerusalem Mall Tower Building, Jerusalem Mall, Jerusalem.

10.1993-4.2004: Genetic Counseling  Clinic, Leumit Health Fund, Main Branch, Jerusalem.

1996-4.2004: Leumit Health Fund Child Development Clinic. Subsequent Director of the Israel Ministry of Health Certified Leumit Child Development Unit, Jerusalem, Israel.

7.2004-7.2005: Medical Geneticist, Hadassah Ein Karem and Mt. Scopus hospitals, corroborating with Mt. Scopus Pediatric Department.

1.3.2008 - Pediatric Medical Geneticist, Center for Clinical Genetics,  Hadassah Ein Karem 

Publications

1. Sheffer R, Ilan Y., Eldor A.: Bernard-Soulier Syndrome. Harefuah, 1986, Sep111(5-6):119-20 (Hebrew).

2. Sheffer R., Cividalli G., Zaharan Y., Tamari H., Okon E.: Disturbed Patterns of Globin Chain Synthesis in Childhood Monosomy Syndrome. Br J Haematolo. 1988 Mar:68(3)357-62. 

3. Barash V, Elpeleg O, Sheffer R, Mandel H, Wanders RJ.: Measurement of 3-hydroxy-3-methyl-glutaryl-CoA-lyase Activity in a Chorionic Villi. Prenat. Diagn. 1988 Nov:8(9):691.

4. Sheffer R, Zlotogora J.: Autosomal Dominant Inheritance of Klein-Waardenburg Syndrome. Am J Med Genet.1992 Feb 1:42(3):320-2.

5. Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben-Ezra D: Behr's Syndrome and 3-Methly-Glutaconic-Aciduria. Am  J Opthalmolo. 1992 Oct 15:114(4):494-7.

6.  Sheffer RN, Shohat M, Merlob P: Prolonged Maternal Diet Imbalance and Recurrent Fetuses with  Congenital  Anomalies. Am J Med Genet. 1993 Feb 1:45(3)398-400.

7. Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT: Mutations in the Paired Domain of the Human PAX3 Gene cause Klein-Waardenburg Syndrome (WS-III) as well as Waardenburg Syndrome Type I (WS-I). Am J Human Genetic 1993 Mar:52(3):455-62.

8. Reis S, Sheffer RN, Merin S, Luder AS, Bach G: Mucolipidosis type IV: A Mild Form with Late Onset. Am J Med Genet. 1993 Sep 1:47(3):392-4.

9. Rein AJ, Sheffer R: Genetics of Conotruncal Malformations: Further Evidence of Autosomal Recessive Inheritance. Am J Med Genet 1994 Apr 15:50(3):302-3.

10. Bar-Oz B, Mogle P, Ben-Neriah Z, Sheffer R, Arad I: Duodenal Web in the Syndrome of Osteopathia Striata and Cranial Sclerosis. Clinic Genetics 1996, Jun:49(6):329-30.

11. Patlas M, Shapiro MY, Nagler A, Sheffer R, Gomori JM: MRI of Mannosidosis. Neuroradiology. 2001 Nov:43(11)941-3.

12. Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW.: Increased Risk for Developmental Delay in Saethre-Chotzen Syndrome is Associated with TWIST Deletions: An Improved Strategy for TWIST Mutation Screening. Human Genet 2003 Dec:114(1):68-76 Epub 2003 Sep 25.

13. Ashoor G, Masse M, Garcia Luciano LM, Sheffer R, Martinez-Mir A, Christiano AM, Zlotogorski A.: A Novel Mutation in the 12(R)-lipoxygenase (ALOX12B) Gene Underlies Non-bullous Congenital Icthyiosiform Erythroderma.Br J Dermatol 2006 Jul:155(1):198-200.

 

                                                                                      




Dr. Ruth Nehama Sheffer


            
     
 


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