I. Spier

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Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Peter Nürnberg, Per Hoffmann, Richard P Lifton, 2015, International journal of cancer.

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.

A. Hoischen, E. Schröck, A. Rump, 2022, European journal of medical genetics.

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

G. Plotz, S. Aretz, I. Spier, 2019, Hereditary cancer in clinical practice.

Retina Novel Insights Into the Phenotypical Spectrum of KIF 11-Associated Retinopathy , Including a New Form of Retinal Ciliopathy

U. Wolfrum, C. Neuhaus, H. Bolz, 2017 .

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.

U. Wolfrum, P. Charbel Issa, C. Neuhaus, 2017, Investigative ophthalmology & visual science.

Breast and prostate cancer risk: the interplay of polygenic risk, rare pathogenic germline variants, and family history

M. Nöthen, P. May, A. Forstner, 2021, Genetics in Medicine.

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

E. Schröck, C. Lázaro, G. Capellá, 2018, Familial Cancer.

Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status

G. Kristiansen, C. Strassburg, J. Nattermann, 2020, Cancers.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

W. Foulkes, G. Capellá, I. Tomlinson, 2019, Cancer cell.

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion

C. Eng, H. Uhlig, H. Taylor, 2021, Human molecular genetics.

Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes

P. Bork, T. Doerks, S. Moebus, 2018, International journal of cancer.

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

J. Schuurs-Hoeijmakers, M. Genuardi, T. Kleefstra, 2022, European journal of medical genetics.

First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants

Y. Drouet, D. Stoppa-Lyonnet, B. Buecher, 2022, Journal of Medical Genetics.

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

G. Capellá, J. Cubiella, C. Rosty, 2022, Journal of Medical Genetics.

F2A sequence linking MGMTP140K and MDR1 in a bicistronic lentiviral vector enables efficient chemoprotection of haematopoietic stem cells

D. Heckmann, H. Allgayer, F. Wenz, 2012, Cancer Gene Therapy.

Chemoprotection of human hematopoietic stem cells by simultaneous lentiviral overexpression of multidrug resistance 1 and O6-methylguanine-DNA methyltransferaseP140K

S Fruehauf, F Wenz, F. Wenz, 2010, Gene Therapy.

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)

G. Kristiansen, C. Strassburg, M. Odenthal, 2017, Hereditary Cancer in Clinical Practice.

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

D. Evans, H. Järvinen, M. Genuardi, 2020, Genetics in Medicine.

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

M. Nöthen, G. Kristiansen, A. Tafazzoli, 2016, American journal of human genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Thomas Eggermann, Andreas Dufke, Michael Bonin, 2012, Journal of Medical Genetics.

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

T. Eggermann, H. Engels, H. Reutter, 2019, American journal of medical genetics. Part A.

Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas

T. Pietsch, R. Kortmann, S. Rutkowski, 2022, Acta Neuropathologica.

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

M. Nöthen, H. Fröhlich, S. Moebus, 2015, International journal of cancer.

MDR1 Gene Transfer Using a Lentiviral SIN Vector Confers Radioprotection to Human CD34+ Hematopoietic Progenitor Cells

F. Wenz, S. Fruehauf, C. Herskind, 2008, Radiation research.

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

M. Nöthen, T. Becker, R. Lifton, 2016, Familial Cancer.

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

E. Schröck, C. Lázaro, G. Capellá, 2022, The Lancet. Oncology.

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

M. Nöthen, G. Kristiansen, T. Becker, 2015, Journal of Medical Genetics.

Reply to Kratz et al.

E. Schröck, D. Evans, C. Lázaro, 2020, European Journal of Human Genetics.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis

P. Hoffmann, S. Aretz, M. Ludwig, 2012, Human mutation.

Cancer predisposition and germline CTNNA1 variants.

F. Coulet, S. Aretz, Carla Oliveira, 2021, European journal of medical genetics.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

D. Wieczorek, S. Mansour, A. Moore, 2013, European Journal of Human Genetics.

Clinical signiﬁcance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

A. Dufke, M. Bonin, U. Grasshoff, 2022 .

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

A. Piepoli, A. Viel, M. Genuardi, 2013, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

P. May, G. Capellá, A. Forstner, 2022, BMC Medical Genomics.

Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency.

L. Guerrini-Rousseau, K. Dahan, G. Borthwick, 2022, Gastroenterology.

Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history

M. Nöthen, P. May, P. Krawitz, 2021, medRxiv.

Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.

J. Schuurs-Hoeijmakers, C. Houdayer, S. Aretz, 2022, Journal of the National Cancer Institute.

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

G. Capellá, N. Bonifaci, A. Mayr, 2023, medRxiv.

Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy

F. Lammert, S. Aretz, M. Casper, 2018, American Journal of Gastroenterology.

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis

M. Odenthal, M. Peifer, A. Hillmer, 2021, PloS one.

Dye chromoendoscopy leads to a higher adenoma detection in the duodenum and stomach in patients with familial adenomatous polyposis

R. Fimmers, G. Kristiansen, C. Coch, 2020, Endoscopy International Open.

Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

E. Schröck, C. Caldas, D. Huntsman, 2023, Gastric Cancer.

Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline

E. Schröck, C. Kratz, S. Aretz, 2021, Geburtshilfe und Frauenheilkunde.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

M. Nöthen, G. Kristiansen, A. Tafazzoli, 2016, American journal of human genetics.

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

R. Lifton, P. Hoffmann, P. Nürnberg, 2015, International journal of cancer.

Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis

P. Hoffmann, S. Aretz, M. Ludwig, 2012, Human mutation.