CRIR Members

Dr. Karin Weiss

Phone number of Dr. Karin Weiss04-7772456

Dr. Karin Weiss is the Director of the Genetics Institute at Rambam Health Care Campus and a Lecturer at the Technion-Israel Institute of Technology's Rappaport Faculty of Medicine.

A graduate of the Sackler Faculty of Medicine in Tel Aviv University (2008), Dr. Weiss 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. From 2015–2017, she worked as a postdoctoral fellow at the Muenke Laboratory in the National Human Genetic Research Institute (NHGRI) and completed a fellowship in clinical molecular genetics and genomics.

In 2017, Dr. Weiss joined the Genetics Institute at Rambam Health Care Campus where she is combining clinical work, with the education of medical students, and research. As a pediatrician and medical geneticist she 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. Her clinical research is integrating genomic testing with bioinformatics and biochemical studies in order to reach an accurate genetic diagnosis, understand disease mechanisms, and to provide personalized care for children with rare developmental disorders.

As the Head of the Medical Genetics Research Lab at the Clinical Research Institute of Rambam Clinical Research Institute at Rambam (CRIR), Dr. Weiss’s main research focus is neurodevelopmental disorders involving epigenetic machinery defects. She is also interested in utilizing genomics to improve child health, specifically, the diagnosis of rare genetic disorders, next generation sequencing technologies, and personalized care.

Dr. Weiss is a member of the Israeli Medical Genetics Society, a Corresponding Fellow of the American Board of Medical Genetics and Genomics, and has several publications in esteemed peer-reviewed publications.

Selected Publications

  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).
  9. Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. "The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis" Genet Med. 2020 Feb;22(2):389-397.
  10. Kalailingam P, Wang KQ, Toh XR, Nguyen TQ, Chandrakanthan M, Hasan Z, Habib C, Schif A, Radio FC, Dallapiccola B, Weiss K, Nguyen LN. "Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome" J Clin Invest. 2020 Aug 3;130(8):4081-4093.
  • Research area:Genetics
  • Key Word:Exome sequencing optical, genome mapping rare disease, Chd4’ neurodevelopmental disorders, Autism, Intellectual disability, Dysmorphology, Exome sequencing, Personalized treatment, Exome, Neurodevelopmental Disorders, Chromatinopathies, Sequencing
  • Category:Clinical & Translational
List of publications
on PubMed