S. Waldmüller

发表

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

R. Goody, P. Nürnberg, W. Blankenfeldt, 2007, PloS one.

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

M. Bonin, B. Keyser, M. Stuhrmann, 2013, Molecular and cellular probes.

Sequence and expression characteristics of three g-Box-binding factor cdnas from brassica napus

S. Waldmüller, Gerhard Link, 1995, Plant Molecular Biology.

A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies

K. Kagan, M. Hoopmann, M. Sturm, 2022, Prenatal diagnosis.

GSBF1, a seedling-specific bZIP DNA-binding protein with preference for a ‘split’ G-box-related element in Brassica napus RbcS promoters

S. Waldmüller, G. Link, U. Müller, 1996, Plant Molecular Biology.

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

W. Schmidt, W. Sperl, M. Freilinger, 2022, Orphanet Journal of Rare Diseases.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

H. Mefford, A. Paetau, P. Striano, 2022, Brain : a journal of neurology.

A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes

K. Borisov, T. Scheffold, S. Waldmüller, 2011, Clinical Research in Cardiology.

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.

B. Gelb, G. Andelfinger, M. Zenker, 2019, Journal of the American College of Cardiology.

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

D. Horn, R. Siebert, G. Kristiansen, 2021, Journal of Medical Genetics.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

P. Bauer, M. Gawaz, C. Schroeder, 2015, Molecular and cellular probes.

Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy

S. Poths, M. Bonin, T. Scheffold, 2008, Clinical chemistry.

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

W. Blankenfeldt, J. Epplen, P. Gehle, 2011, European Journal of Human Genetics.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

M. Golubenko, K. Schwartz, H. Vosberg, 2003, Journal of molecular and cellular cardiology.

DLG4-related synaptopathy: a new rare brain disorder

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Recognizable pattern of arthrogryposis and congenital myopathy caused by the recurrent TTN metatranscript-only c.39974-11T>G splice variant.

D. Horn, C. Bönnemann, T. Haack, 2022, Neuropediatrics.

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

Steffen Scheer, Jeanette Erdmann, Heribert Schunkert, 2011, European journal of heart failure.

Low‐density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy

H. Vosberg, S. Waldmüller, R. Toder, 2002, Human mutation.

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

W. Schöls, H. Warnecke, T. Scheffold, 2007, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

P. Bauer, M. Gawaz, C. Schroeder, 2015, Molecular and cellular probes.