I. Schanze

发表

Genotype and phenotype spectrum of NRAS germline variants

H. Cavé, M. Ahmadian, M. Tartaglia, 2017, European Journal of Human Genetics.

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

T. Wieland, T. Strom, D. Wieczorek, 2015, European Journal of Human Genetics.

Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients

B. Royer-Pokora, B. Leube, A. Thiel, 2013, American journal of medical genetics. Part A.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

M. Greene, D. Mitter, H. Peters, 2015, British Journal of Cancer.

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

A. Reis, A. Rauch, C. Zweier, 2012, Molecular Syndromology.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

R. Hochstenbach, M. Poot, E. Obersztyn, 2015, Molecular Syndromology.

Multicentre approach to epidemiological aspects of craniosynostosis in Germany.

S. Kropf, R. Haase, G. Jorch, 2018, The British journal of oral & maxillofacial surgery.

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg

R. Friedrich, M. Zenker, C. Hagel, 2020, AntiCancer Research.

Sema3a plays a role in the pathogenesis of CHARGE syndrome

C. V. van Ravenswaaij-Arts, A. Tzschach, C. Neuhofer, 2018, Human molecular genetics.

Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

M. Ryten, M. Tartaglia, M. Anselmi, 2020, Human mutation.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human genetics.

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Diana Le Duc, P. Bauer, J. Hentschel, 2019, bioRxiv.

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

M. Zenker, I. Wieland, W. Barthlen, 2022, Frontiers in Endocrinology.

Variants in nuclear factor I genes influence growth and development

L. Richards, R. Hennekam, R. Gronostajski, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus

M. Zenker, I. Wieland, J. Hoefele, 2022, Journal of the Endocrine Society.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Denny Schanze, Sofia Douzgou, Martin Zenker, 2013, European journal of medical genetics.

Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila

A. Reis, R. Donders, C. Zweier, 2014, Human mutation.

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

M. Rauh, A. Ekici, M. Reuter, 2014, American journal of medical genetics. Part A.

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.

M. Zenker, D. Schanze, L. C. Zepeda-Romero, 2022, European journal of medical genetics.

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

J. Argente, N. Rezaei, M. Zenker, 2017, Molecular Genetics & Genomic Medicine.

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability

Ante Karoglan, C. Bär, M. Zenker, 2019, American journal of medical genetics. Part A.

Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?

Z. Stark, M. Zenker, S. Kant, 2015, American journal of medical genetics. Part A.

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf‐Hirschhorn syndrome

M. Zenker, M. Volleth, I. Wieland, 2014, American journal of medical genetics. Part A.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

M. Boerries, M. Wlodarski, A. Yoshimi, 2023, British journal of haematology.