A. Benet-Pagès

发表

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

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

FGF23 is processed by proprotein convertases but not by PHEX.

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

Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment Monitoring.

U. Mansmann, M. Rentsch, Ariane Hallermayr, 2021, Clinical chemistry.

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.

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

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

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.

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.

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.

Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics

S. Aretz, A. Laner, M. Morak, 2020, Familial Cancer.

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients

U. Mansmann, M. Rentsch, E. Heitzer, 2022, Journal of Hematology & Oncology.

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

T. Wieland, T. Meitinger, T. Strom, 2013, BMC Genomics.

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

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

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.

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

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

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

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

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.

Applications and data analysis of next-generation sequencing

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

Polypeptide GalNAc-transferase T3 and Familial Tumoral Calcinosis

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

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

T. Strom, G. Eckstein, P. Lichtner, 2006, American journal of human genetics.

Variant interpretation: UCSC Genome Browser Recommended Track Sets

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

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome

A. Laner, Ariane Hallermayr, U. Koehler, 2018, Clinical case reports.

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

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

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

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

Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation

A. Laner, G. Keller, M. Morak, 2018, Journal of Medical Genetics.

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.

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

A. Rump, I. Glass, W. Berger, 2016, Journal of Medical Genetics.

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

O. Peschel, A. Laner, I. Diebold, 2021, BMC medical genomics.

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

C. Heyer, U. Löbel, R. Horvath, 2015, Molecular and cellular probes.

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

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

Dealing With Unspecific Clinical Phenotypes in Molecular Autopsy - HPO-Driven Whole Exome Sequencing Analysis Versus Gene Panel Testing

O. Peschel, A. Laner, I. Diebold, 2020 .

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

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

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.

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

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