C. Wilhelm

发表

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

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

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

P. Andersen, A. Birve, L. Schöls, 2012, Human molecular genetics.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

U. Stephani, H. Lerche, J. Serratosa, 2013, Nature Genetics.

Canine haemophilia A caused by a mutation leading to a stop codon

M. von Depka, C. Wilhelm, M. Varvenne, 2011, Veterinary Record.

Multiple malignant diseases in a patient with Rothmund–Thomson syndrome with RECQL4 mutations: Case report and literature review

F. Berthold, T. Simon, C. Wilhelm, 2010, American journal of medical genetics. Part A.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

W. Reardon, J. Clayton-Smith, R. Winter, 2004, Journal of Medical Genetics.

Improved cognition, mild anxiety-like behavior and decreased motor performance in pyridoxal phosphatase-deficient mice.

K. Lesch, N. Verhoeven-Duif, C. Wilhelm, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.

H. Klein, L. Weber, U. Heinrich, 2013, Gene.

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

S. Nabuurs, L. Schöls, A. V. van Kuilenburg, 2014, Orphanet Journal of Rare Diseases.

Alu‐Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype–phenotype correlations in VHL patients

H. Neumann, G. Scherer, J. Kohlhase, 2009, Human mutation.

Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients

M. Hüll, K. Schmidtke, J. Beckervordersandforth, 2009, Journal of Neurology.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

J. McGrath, C. Has, G. Zambruno, 2006, The Journal of investigative dermatology.

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

S. Züchner, R. Schüle, L. Schöls, 2014, Brain : a journal of neurology.

Results A family with severe early-onset ‘ optic atrophy plus ’ syndrome and asymptomatic parents

S. Züchner, R. Schüle, L. Schöls, 2014 .

SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway.

Christian Wilhelm, J. Böhm, J. Kohlhase, 2006, Biochemical and biophysical research communications.

Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation

P. Beighton, C. Kubisch, G. Borck, 2010, American journal of medical genetics. Part A.

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion

L. Schöls, M. Synofzik, C. Wilhelm, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

K. Huoponen, M. Pöyhönen, C. Saloranta, 2007, Genetics in Medicine.

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45

J. Sahel, E. Colin, D. Bonneau, 2016, Ophthalmic genetics.

Charcot–Marie–Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation

L. Schöls, M. Synofzik, A. Bornemann, 2012, European journal of neurology.

De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.

S. Berweck, C. Wilhelm, M. Zech, 2023, European journal of medical genetics.