Paranchai Boonsawat

Zurich, ZH, Switzerland

Last Updated: 09/26/2026

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Found 11 publications

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.

Journal: Neurogenetics

Published: June 11, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Journal: American journal of human genetics

Published: April 29, 2024

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Journal: American journal of human genetics

Published: November 17, 2023

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Journal: Human molecular genetics

Published: November 14, 2022

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Journal: NPJ genomic medicine

Published: February 21, 2022

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 06, 2020

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.

Journal: Swiss medical weekly

Published: August 19, 2019

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 27, 2018

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: April 09, 2018

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Journal: European journal of human genetics : EJHG

Published: January 26, 2017

Showing 1-11 of 11

Last Updated: 09/26/2026