Dr. Karin Weiss is a graduate of the Sackler school of medicine in Tel-Aviv university from 2008. She completed her Pediatrics residency in Tel-Aviv medical center in 2012, and a residency in Medical Genetics and Genomics at the National Institutes of Health and Johns Hopkins consortium in 2015. During 2015-2017 Dr. Weiss worked as a postdoctoral fellow at the Muenke lab in the National Human Genetic Research Institute (NHGRI), and completed a fellowship in Clinical Molecular Genetics and Genomics.
In 2017 she joined the Genetics Institute at Rambam Health Care Campus and she currently combines clinical work, education of medical students and research. As a pediatrician and medical geneticist Dr. Weiss is interested in utilizing genomics to improve child health. She is specifically interested in the diagnosis and treatment of rare Mendelian neurodevelopmental disorders. Through collaborations with other clinicians and researchers around the world she has been involved in the identification of the genetic basis of novel neurodevelopmental disorders. In her research Dr. Weiss is integrating genomic testing, bioinformatics and biochemical studies in order to reach an accurate genetic diagnosis, understand disease mechanisms and provide personalized care for children with rare developmental disorders.
1. Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M “Heterozygous Missense Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause a Novel Intellectual Disability Syndrome”. Am J Hum Genet. 2016 Oct 6;99(4):934-941.
2. Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Gahli N, DDD study, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P. “Haploinsufficiency of ZNF462 is Associated with Craniofacial Anomalies, Corpus Callosum Dysgenesis, Ptosis and Developmental Delay” Eur J Hum Genet. 2017 Aug;25(8):946-951.
3. Kruszka P, Berger SI, Weiss K, Everson JL, Martinez AF, Hong S, Anyane-Yeboa K, Lipinski RJ, Muenke M. “A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly”. Am J Hum Genet. 2019 May 2;104(5):990-993.
4. Weiss K, Kruszka P, Guillen-Sacato MJ, Addissie Y, Hadley DW, Hadssal CK, Stokes B, Hu P, Roessler E, Solomon B, Wiggs E, Thurm A, Hufnagel RB, Zein WM, Hahn S, Stashinko E, Levey E, Baldwin D, Clegg NJ, Delgado MR, Muenke M. “In Depth Investigations of Adolescents and Adults with Holoprosencephaly Identifies Unique Characteristics”. Genet Med. 2017 Jun 22.
5. Weiss K, Kruszka P, Levey E, Muenke M. "Holoprosencephaly from conception to adulthood". American journal of Medical Genetics Part C: Seminars in Medical Genetics. 2018 Jun;178(2):122-127.
6. Orenstein N, Weiss K, Oprescu S, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M. “Bi-allelic, IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay”. Clin Genet. 2017 Jun;91(6):913-917.
7. Weiss K, Carolyn Applegate, Tao Wand and Denise Batista. “Familial TAB2 microdeletion and congenital heart defects including unusual dysplasia and Tetralogy of Fallot”, Am J Med Genet A. 2015 Nov;167A(11):2702-6.
8. Weiss K, Kurolap A, Paperna T, Mory A, Steinberg M, Hershkovitz T, Ekhilevitch N, Baris HN. Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt. Rambam Maimonides Med J. 2018 Jul 30;9(3).