Publications by authors named "Sigrid Tinschert"

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Hereditary diffuse gastric cancer spectrum associated with germline loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.
Silvana Lobo, Alexandre Dias, Ana Maria Pedro, Marta Ferreira, André Pinto-Oliveira, Sigrid Tinschert

Gut· November 2025

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Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Sigrid Tinschert

J Med Genet· August 2025

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Molecular and Phenotypic Characterization of the -Related Disorder.
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Sigrid Tinschert

Neurology· January 2024

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Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain

Cells· February 2023

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variants of cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Sigrid Tinschert

HGG Adv· July 2022

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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Emrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, Birgit Susanne Budde, Maria Asif, Sigrid Tinschert

Clin Genet· October 2021

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Modifier Genes in Microcephaly: A Report on , , and Variants Exacerbating Disease Caused by Biallelic Mutations of and .
Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Sigrid Tinschert

Genes (Basel)· May 2021

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Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.
Maximilian Ulrich, Sigrid Tinschert, Eberhard Siebert, Ingolf Franke, Thomas Tüting

Pigment Cell Melanoma Res· May 2019

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Reorganization of chromosomal interactions in the 2q37-deletion syndrome.
Philipp G Maass, Anja Weise, Katharina Rittscher, Julia Lichtenwald, A Rasim Barutcu, Sigrid Tinschert

EMBO J· August 2018

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A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.
Martin Zenker, Sigrid Tinschert, Ilse Wieland, Denny Schanze, Rudolf Happle

Acta Derm Venereol· April 2018

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Sigrid Tinschert

Am J Hum Genet· December 2017

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Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.
Kerstin Becker, Sabine Siegert, Mohammad Reza Toliat, Juanjiangmeng Du, Ramona Casper, Sigrid Tinschert

PLoS One· July 2017

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Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Sigrid Tinschert

Hum Mutat· April 2017

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Sigrid Tinschert

Hum Mutat· September 2016

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Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
Marije E C Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert

J Exp Med· June 2016

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Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.
Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner, Sigrid Tinschert

PLoS One· January 2016

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Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Karl Hackmann, Andreas Rump, Stefan A Haas, Johannes R Lemke, Jean-Pierre Fryns, Sigrid Tinschert

Am J Med Genet A· January 2016

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Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
Denise Emmerich, Tomasz Zemojtel, Jochen Hecht, Peter Krawitz, Malte Spielmann, Sigrid Tinschert

Eur J Hum Genet· June 2015

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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, Muhammad Sajid Hussain, Louise S Bicknell, Sigrid Tinschert

Nat Genet· December 2014

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Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Muhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Sigrid Tinschert

Am J Hum Genet· November 2014

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Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.
Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Sigrid Tinschert

PLoS One· October 2014

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Sigrid Tinschert

PLoS One· September 2014

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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, Winnie Schröder, Sigrid Tinschert

Mol Genet Genomic Med· March 2014

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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Sigrid Tinschert

Hum Mol Genet· December 2013

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Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.
Karl Hackmann, Anja Stadler, Jens Schallner, Kathlen Franke, Eva-Maria Gerlach, Sigrid Tinschert

Am J Med Genet A· December 2013

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