V. Frank

发表

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

T. Eisenberger, C. Bergmann, C. Decker, 2015, PloS one.

RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.

K. Zerres, C. Bergmann, V. Frank, 2008, The Journal of investigative dermatology.

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

J. Jonsson, K. Zerres, L. Weber, 2011, Journal of the American Society of Nephrology : JASN.

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

Colin A. Johnson, H. Bolz, B. Schermer, 2013, Human molecular genetics.

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

C. Bergmann, Steffen Neuber, V. Frank, 2020, Genetics in Medicine.

Dosage-sensitive network in polycystic kidney and liver disease: multiple mutations cause severe hepatic and neurological complications.

A. Ferbert, C. Bergmann, V. Frank, 2012, Journal of hepatology.

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

M. Hurles, P. Scambler, T. Neuhann, 2013, Human mutation.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Carsten Bergmann, Peter Nürnberg, Bernhard Schermer, 2008, American journal of human genetics.

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8

F. Kortüm, T. Liehr, M. Shoukier, 2013, Cytogenetic and Genome Research.

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

K. Zerres, C. Bergmann, V. Frank, 2006, Journal of Human Genetics.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome

Carsten Bergmann, Peter Nürnberg, Klaus Zerres, 2008, Human mutation.

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

A. Perkins, N. Ortiz-Brüchle, K. Zerres, 2017, Nature Genetics.

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel‐Gruber syndrome

K. Zerres, C. Bergmann, V. Frank, 2007, Human mutation.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

R. Roepman, N. Sebire, M. Ueffing, 2013, Nature Genetics.

Clinical utility gene card for: Meckel syndrome – update 2016

R. Salonen, C. Bergmann, V. Frank, 2016, European Journal of Human Genetics.

Meckel Syndrome and Related Disorders

C. Bergmann, V. Frank, 2013 .

Transcriptional complexity in autosomal recessive polycystic kidney disease.

K. Zerres, C. Bergmann, V. Frank, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease

K. Zerres, C. Bergmann, V. Frank, 2012, Molecular Diagnosis & Therapy.

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

Carsten Bergmann, Martin Pohl, T. Eisenberger, 2014, Pediatric Nephrology.

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

C. Bergmann, Steffen Neuber, V. Frank, 2020, Genetics in Medicine.

ANKS 6 is a central component of a nephronophthisis module linking NEK 8 to INVS and NPHP 3

Sophie, R. Roepman, N. Sebire, 2013 .

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

C. Bergmann, V. Frank, H. Bolz, 2012, The Journal of investigative dermatology.

Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.

K. Zerres, H. Rehder, C. Bergmann, 2008, The New England journal of medicine.