R. Heller

发表

Extension of the clinical and molecular phenotype of DIAPH1‐associated autosomal dominant hearing loss (DFNA1)

U. Zimmermann, M. Knipper, H. Bolz, 2017, Clinical genetics.

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

I. Ebermann, R. Heller, G. Nürnberg, 2013, European Journal of Human Genetics.

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

C. Schwartz, S. Twigg, A. Wilkie, 2007, Human Genetics.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2008, Journal of Medical Genetics.

Differential effects of ergometer-cycling and Whole-Body-Vibration training on serological BDNF and IGF-1 in the treatment of adolescent depression - is there an impact of BDNFp.Val66Met variants?

R. Heller, E. Schönau, S. Hamacher, 2021, Physiology & Behavior.

HE6, a two‐subunit heptahelical receptor associated with apical membranes of efferent and epididymal duct epithelia

R. Heller, C. Kirchhoff, H. Obermann, 2003, Molecular reproduction and development.

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

M. Indelman, R. Bergman, G. Richard, 2005, Human Genetics.

Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

A. Winterpacht, R. Heller, A. Rauch, 2003, Journal of medical genetics.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

P. Charbel Issa, G. Holder, V. Plagnol, 2015, Investigative ophthalmology & visual science.

A TUBB6 mutation is associated with autosomal dominant non‐progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

R. Lang-Roth, R. Heller, G. Nürnberg, 2017, Human molecular genetics.

Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin.

R. Heller, V. Sankaran, J. Menne, 2011, Blood.

[Disorders of laterality and heterotaxy in the foetus].

R. Heller, C. Berg, I. Gottschalk, 2012, Zeitschrift fur Geburtshilfe und Neonatologie.

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

R. Tenconi, M. Tartaglia, R. Heller, 2011, American journal of medical genetics. Part A.

The genomic and clinical landscape of fetal akinesia

M. Cossée, R. Heller, A. Koy, 2019, Genetics in Medicine.

PRUNE1: a disease-causing gene for secondary microcephaly.

B. Wirth, S. Gökben, S. Yılmaz, 2017, Brain : a journal of neurology.

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

A. Green, T. Eggermann, R. Heller, 2014, European Journal of Human Genetics.

The recurrence risk for neural tube defects in the United States: a collaborative study.

R. Heller, B. Crandall, E. Kloza, 1980, American journal of medical genetics.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

M. Westerfield, I. Ebermann, H. Bolz, 2015, Human molecular genetics.

A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome

R. Heller, P. Herkenrath, B. Beck, 2017, American journal of medical genetics. Part A.

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

B. Wirth, R. Heller, M. Riessland, 2012, European Journal of Human Genetics.

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

B. Wirth, Hanns Lochmüller, R. Heller, 2006, Human Genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

A. Ferbert, B. Wirth, B. H. Eriksen, 2017, European Journal of Human Genetics.

VPA response in SMA is suppressed by the fatty acid translocase CD36.

John T. Dimos, B. Wirth, R. Heller, 2013, Human molecular genetics.

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

B. Wirth, R. Heller, M. Kye, 2016, Cellular and Molecular Life Sciences.

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

U. Wolfrum, H. Bolz, K. Nagel-Wolfrum, 2016, Human mutation.

The challenge of defining pathogenicity: the example of AHI1

R. Heller, H. Bolz, 2015, Genetics in Medicine.

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

D. Seelow, S. Mundlos, M. Blankenburg, 2008, American journal of human genetics.

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

B. Wirth, R. Heller, K. Girisha, 2016, American Journal of Human Genetics.

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome

B. Lorenz, H. Stöhr, P. Charbel Issa, 2017, Molecular genetics & genomic medicine.

Genotype – Phenotype Correlation and Mutation Spectrum in a Large Cohort of Patients With Inherited Retinal Dystrophy Revealed by Next-Generation Sequencing

R. Heller, H. Bolz, 2015 .

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints

A. Winterpacht, R. Heller, S. Endele, 2002, Journal of medical genetics.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

Uniparental disomies 7 and 14.

R. Heller, K. Hoffmann, 2011, Best practice & research. Clinical endocrinology & metabolism.

Best Practice & Research Clinical Endocrinology & Metabolism

R. Heller, K. Hoffmann, 2011 .

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

R. Kaiser, R. Heller, P. Nürnberg, 2017, Front. Genet..

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

A. Ekici, R. Heller, A. Reis, 2011, European journal of medical genetics.

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

A. Winterpacht, R. Heller, V. Kalscheuer, 2005, Journal of Medical Genetics.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

S. Robertson, D. Baralle, R. Heller, 2020, European Journal of Human Genetics.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

M. Nolan, P. Andersen, R. Heller, 2023, Brain communications.

Combined partial trisomy 11q and partial monosomy 10p in a 19‐year‐old female patient: Phenotypic and genotypic findings

R. Heller, E. Klopocki, W. Kiess, 2011, American journal of medical genetics. Part A.

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.

B. Wirth, I. Blümcke, R. Heller, 2009, Human molecular genetics.

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.

A. Oberthuer, R. Heller, S. Çırak, 2019, Molecular and cellular probes.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Insulin Like Growth Factor 1 Moderates the Influence of the BDNF P.Val66Met Variant on Depression Severity in Adolescent Depression

M. Kraemer, A. Dabringhaus, S. Neufang, 2020 .

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Yang Wang, Monte Westerfield, Carsten Bergmann, 2014, Human mutation.

Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2009, Clinical genetics.

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy – A pilot study

B. Wirth, A. Ludolph, R. Heller, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

P. Bauer, R. Heller, P. Ray, 2016 .

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

P. Bauer, R. Heller, P. Ray, 2016, Human mutation.

Title 1 Pathogenic variants causing ABL 1 malformation syndrome cluster in a myristoyl-2 binding pocket and increase tyrosine kinase activity 3 4 Running title 5 ABL 1 pathogenic variants 6

S. Robertson, D. Baralle, R. Heller, 2020 .

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone

R. Heller, P. Nürnberg, K. Zimmer, 2016, Neuropediatrics.

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

Austen R. D. Ganley, R. Heller, F. Bloomfield, 2021, American journal of medical genetics. Part A.

Cytogenetics of Askin's tumour. Case report and review of the literature.

R. Heller, L. Füzesi, R. Mertens, 1993, Pathology, Research and Practice.

Best Practice & Research Clinical Endocrinology & Metabolism

R. Heller, E. Mannucci, L. Vignozzi, 2011 .

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.