S. Peters

发表

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

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.

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.

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

M. Nöthen, Alexej Knaus, P. Krawitz, 2021, NPJ genomic medicine.

Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Alexej Knaus, Tzung-Chien Hsieh, P. Krawitz, 2022, Human mutation.

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

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

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

Basal cell carcinomas developing independently from BAP1‐tumor predisposition syndrome in a patient with bilateral uveal melanoma

A. Biswas, Amit Sharma, F. Holz, 2019, Genes, chromosomes & cancer.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

T. Strom, D. Wieczorek, M. Sturm, 2018, Human Genetics.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

T. Strom, D. Wieczorek, D. Lessel, 2020, American journal of medical genetics. Part A.

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.

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.

Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome

Steve Hoffmann, Martin Peifer, Markus Loeffler, 2017, The Journal of pathology.

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

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

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.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, 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.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

T. Strom, D. Wieczorek, M. Sturm, 2018, Human Genetics.

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.

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Alexej Knaus, P. Krawitz, H. Engels, 2021, npj Genomic Medicine.

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.

Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children

F. Laenger, B. Gérard, K. Cremer, 2023, Pediatric pulmonology.

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.