A. Benet-Pagès

发表

Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome

D. Frishman, A. Laner, M. Morak, 2019, European Journal of Human Genetics.

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Marc N. Offman, A. Peters, B. Rost, 2011, American journal of human genetics.

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23.

T. Strom, K. White, M. Econs, 2001, Kidney international.

Polypeptide GalNAc-transferase T3 and Familial Tumoral Calcinosis

T. Strom, Kentaro Kato, E. Bennett, 2006, Journal of Biological Chemistry.

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

T. Strom, E. Pataraia, A. Brice, 2013, Brain : a journal of neurology.

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

T. Meitinger, T. Strom, S. Bohlander, 2011, Leukemia.

CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters

T. Strom, W. Hammerschmidt, U. Rothbauer, 2010, PLoS pathogens.

Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

T. Meitinger, T. Strom, K. Flisikowski, 2009, Genome Biology.

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes

A. Laner, I. Diebold, A. Abicht, 2020, Human mutation.

Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method

R. Horvath, I. Diebold, A. Abicht, 2018, Molecular genetics & genomic medicine.

Applications and data analysis of next-generation sequencing

K. Metzeler, P. Greif, H. Klein, 2013 .

Molekulargenetische und zytogenetische Diagnostik/ Redaktion: H.-G. Klein Molecular-Genetic and Cytogenetic Diagnostics

Ina Vogl, Sebastian H. Eck, Philipp A. Greif, 2013 .

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

T. Neuhann, A. von Moers, I. Kurth, 2023, Journal of neuromuscular diseases.

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

T. Strom, K. Badenhoop, F. Glorieux, 2006, Nature Genetics.

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

P. Orlik, T. Strom, B. Lorenz-Depiereux, 2005, Human molecular genetics.

FGF23 is processed by proprotein convertases but not by PHEX.

T. Strom, H. Zischka, K. White, 2004, Bone.

Quality assurance within the context of genome diagnostics (a german perspective)

M. Sturm, S. Eck, Anna Teubert, 2023, Medizinische Genetik.

Variant interpretation: UCSC Genome Browser Recommended Track Sets

Hiram Clawson, Jairo Navarro Gonzalez, Brian T. Lee, 2021, Human mutation.

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

E. Schröck, A. Rump, B. Klink, 2016, PLoS genetics.

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6

M. Kerscher, H. Schackert, A. Laner, 2017, Familial Cancer.

Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany

A. Laner, B. Neitzel, A. Benet-Pagès, 2020, Familial Cancer.

A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.

T. Meitinger, T. Strom, G. Eckstein, 2004, The Journal of investigative dermatology.