Publications by authors named "Peter Miny"

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Peter Miny

Genet Med· November 2025

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Peter Miny

Nat Commun· November 2025

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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Anneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Peter Miny

Genet Med· October 2025

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Peter Miny

Res Sq· September 2023

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Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.
Seher Basaran, Recep Has, Ibrahim Halil Kalelioglu, Tugba Sarac Sivrikoz, Birsen Karaman, Peter Miny

Genes (Basel)· December 2022

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How genomics is changing the practice of prenatal testing.
Isabel Filges, Peter Miny, Wolfgang Holzgreve, Sevgi Tercanli

J Perinat Med· October 2021

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Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.
Nicole Meier, Elisabeth Bruder, Peter Miny, Sevgi Tercanli, Isabel Filges

Mol Genet Genomic Med· April 2020

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Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Nicole Meier, Elisabeth Bruder, Olav Lapaire, Irene Hoesli, Anjeung Kang, Peter Miny

Eur J Hum Genet· May 2019

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Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Isabel Filges, Elisabeth Bruder, Kristin Brandal, Stephanie Meier, Dag Erik Undlien, Peter Miny

Hum Mutat· July 2016

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Aude-Annick Suter, Peter Itin, Karl Heinimann, Munaza Ahmed, Tazeen Ashraf, Peter Miny

Mol Genet Genomic Med· May 2016

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Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Isabel Filges, Elisabeth Bruder, Kristin Brandal, Stephanie Meier, Dag Erik Undlien, Peter Miny

Hum Mutat· April 2016

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Increased Fetal Nuchal Translucency - Also a Risk for a Rare Submicroscopic Chromosomal Abnormalities.
Sevgi Tercanli, Peter Miny, Isabel Filges

Ultraschall Med· October 2015

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Julia K Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P Zimmermann, Peter Miny

Mol Cytogenet· September 2015

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Gene expression profiles of similarly derived human embryonic stem cell lines correlate with their distinct propensity to exit stemness and their different differentiation behavior in culture.
Oliver Sterthaus, Anne-Catherine Feutz, Hong Zhang, Flurina Pletscher, Elisabeth Bruder, Peter Miny

Cell Reprogram· June 2014

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Morphologic and GATA1 sequencing analysis of hematopoiesis in fetuses with trisomy 21.
Sylvia Hoeller, Michel P Bihl, Alexandar Tzankov, Rosemarie Chaffard, Petra Hirschmann, Peter Miny

Hum Pathol· May 2014

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Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.
Margarita G Todorova, Matthias C Grieshaber, Rafael J A Cámara, Peter Miny, Anja M Palmowski-Wolfe

BMC Ophthalmol· May 2014

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Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?
Peter Miny, Friedel Wenzel, Sevgi Tercanli, Isabel Filges

Microarrays (Basel)· December 2013

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[Genetic testing in the fetus and child].
Deborah Bartholdi, Peter Miny

Ther Umsch· November 2013

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First successful pregnancy in Switzerland after prospective sex determination of the embryo through the separation of X-chromosome bearing spermatozoa.
Christian De Geyter, Oliver Sterthaus, Peter Miny, Friedel Wenzel, Olav Lapaire

Swiss Med Wkly· August 2013

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mRNA transfection-based, feeder-free, induced pluripotent stem cells derived from adipose tissue of a 50-year-old patient.
Boon Chin Heng, Karl Heinimann, Peter Miny, Giandomenica Iezzi, Katharina Glatz

Metab Eng· July 2013

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Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.
Isabel Filges, Anjeung Kang, Vanessa Klug, Friedel Wenzel, Karl Heinimann, Peter Miny

Mol Cytogenet· September 2012

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TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.
Jan A Sidler, Isabel Filges, Nemya Boesch, Gian Paolo Ramelli, Benno Röthlisberger, Peter Miny

Clin Dysmorphol· April 2012

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High resolution array in the clinical approach to chromosomal phenotypes.
Isabel Filges, Luzia Suda, Peter Weber, Alexandre N Datta, Dirk Fischer, Peter Miny

Gene· March 2012

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Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.
Isabel Filges, Andrea Bischof-Renner, Benno Röthlisberger, Christian Potthoff, René Glanzmann, Peter Miny

Pediatrics· February 2012

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A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
Isabel Filges, Christophe Kunz, Peter Miny, Nemya Boesch, Gabor Szinnai

Fertil Steril· October 2011

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