Sigrid Tinschert

Innsbruck, 6020, Austria

Last Updated: 09/26/2026

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Found 37 publications

Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.

Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.

Journal: Gut

Published: December 16, 2024

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Journal: Journal of medical genetics

Published: August 22, 2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Journal: Neurology

Published: January 02, 2024

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.

Journal: Cells

Published: January 08, 2023

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Journal: HGG advances

Published: November 29, 2021

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Journal: Clinical genetics

Published: May 24, 2021

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Journal: Genes

Published: April 16, 2021

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Journal: Pigment cell & melanoma research

Published: May 28, 2018

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Journal: Acta dermato-venereologica

Published: January 17, 2018

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Journal: American journal of human genetics

Published: July 27, 2017

Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.

Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.

Journal: The EMBO journal

Published: December 06, 2016

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

Journal: Human mutation

Published: September 23, 2016

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Last Updated: 09/26/2026