E. Prott

发表

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

S. Gallati, H. Lerche, M. Schubach, 2012, Epilepsia.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

J. Hentschel, D. Wieczorek, I. Kurth, 2012, Molecular Syndromology.

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

T. Eggermann, G. Binder, B. Horsthemke, 2008, European Journal of Human Genetics.

Childhood overgrowth in patients with common NF1 microdeletions

D. Horn, H. Kehrer-Sawatzki, E. Seemanová, 2005, European Journal of Human Genetics.

Two cancer‐predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li–Fraumeni syndrome

D. Steinemann, D. Reinhardt, R. Beier, 2018, Pediatric blood & cancer.

Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype

D. Wieczorek, W. Robinson, G. Gillessen‐kaesbach, 2003, Prenatal diagnosis.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

J. Hebebrand, D. Wieczorek, M. Zenker, 2013, Behavioral and Brain Functions.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

J. Hebebrand, D. Wieczorek, M. Zenker, 2013, Behavioral and Brain Functions.

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

D. Mitter, D. Wieczorek, U. Mau-Holzmann, 2006, American journal of medical genetics. Part A.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

The influence of low molecular weight heparin medication on plasma DNA in pregnant women

C. Kalle, E. Prott, M. Stumm, 2015, Prenatal diagnosis.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European Journal of Human Genetics.

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

A. Hoischen, D. Wieczorek, P. Propping, 2007, European Journal of Human Genetics.

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.

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

K. Sperling, D. Schindler, A. Jackson, 2005, Human mutation.