Peter Miny
Basel, BS, Switzerland
Last Updated: 09/26/2026
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Found 27 publications
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 29, 2024
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Journal: Nature communications
Published: September 01, 2023
How genomics is changing the practice of prenatal testing.
Journal: Journal of perinatal medicine
Published: May 16, 2021
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.
Journal: Molecular genetics & genomic medicine
Published: December 12, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Journal: European journal of human genetics : EJHG
Published: July 14, 2018
Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.
Journal: Forensic science international
Published: October 26, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Journal: Human mutation
Published: June 15, 2016
Increased Fetal Nuchal Translucency - Also a Risk for a Rare Submicroscopic Chromosomal Abnormalities.
Journal: Ultraschall in der Medizin (Stuttgart, Germany : 1980)
Published: January 14, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Journal: Molecular genetics & genomic medicine
Published: October 23, 2015
Last Updated: 09/26/2026