Ricarda Flöttmann

发表

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Damian Smedley, Yves Moreau, Melissa Haendel, 2014, Science Translational Medicine.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

D. Horn, S. Mundlos, M. Spielmann, 2016, Genome research.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

S. Mundlos, U. Kornak, M. Afzal, 2017, European journal of medical genetics.

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium

E. Schröck, A. Antoniou, A. Meindl, 2013, Journal of Medical Genetics.

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

S. Mundlos, M. Spielmann, B. Tüysüz, 2017, Molecular Syndromology.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

D. Horn, S. Mundlos, M. Spielmann, 2015, Journal of Medical Genetics.

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

S. Mundlos, M. Spielmann, E. Klopocki, 2014, Clinical genetics.

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

P. Robinson, D. Horn, S. Mundlos, 2015, European journal of medical genetics.