R. Floettmann

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.

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation

Meredith Wilson, H. Peters, R. Floettmann, 2016, American journal of medical genetics. Part A.

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.

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

S. Mundlos, M. Spielmann, T. Neuhann, 2016, Journal of Human Genetics.

Noncoding copy-number variations are associated with congenital limb malformation

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

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

D. Horn, S. Mundlos, M. Spielmann, 2015, 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.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

D. Horn, S. Mundlos, J. Pantel, 2019, European Journal of Human Genetics.

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

D. Horn, S. Mundlos, M. Spielmann, 2016, European Journal of Human Genetics.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

D. Horn, S. Mundlos, M. Spielmann, 2016, American journal of medical genetics. Part A.

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

S. Mundlos, M. Spielmann, E. Klopocki, 2014, Orphanet Journal of Rare Diseases.

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

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

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.

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.