Karin Weiss

8PUBLICATIONS
122CO-AUTHORS
Cancer geneticsNeurogeneticsMicroelectromechanical systems (MEMS)Developmental genetics (incl. sex determination)Medical biochemistry - proteins and peptides (incl. medical proteomics)
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Publications (8)

|Sep 16, 2026
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

|Jan 14, 2026
Monogenic and SLE-like disorders in the pediatric population: insights from a Northern Israel cohort.

Ilia Spivak, Tova Hershkovitz, Karin Weiss

|Sep 25, 2025
TBX3- Related Disorder.

Ziv Halperin, Karin Weiss

|Oct 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Angela Peron, Felice D'Arco, Kimberly A Aldinger

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Jul 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.

Nadra Samra, Nicolette S Jansen, Ilham Morani

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Frequent Collaborators

2 joint publications

Suzanne Lesage

2 joint publications

Alexis Brice

2 joint publications

Robert Steinfeld

2 joint publications

Tobias B Haack