A. Schossig

发表

SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

Zlatko Trajanoski, Stephan Pabinger, Gernot Stocker, 2012, PloS one.

SYNE1-ataxia: Novel genotypic and phenotypic findings.

C. Fauth, G. Wenning, W. Nachbauer, 2019, Parkinsonism & related disorders.

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

H. Hennies, P. Nürnberg, J. Altmüller, 2021, Frontiers in Genetics.

Inherited ichthyoses/generalized Mendelian disorders of cornification

C. Fauth, M. Schmuth, A. Janecke, 2012, European Journal of Human Genetics.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

K., Stevens, A. Vanderver, 2020, The Journal of clinical endocrinology and metabolism.

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017

M. Schmuth, J. Zschocke, Magdalena Seidl-Philipp, 2020, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria

S. Rudnik-Schöneborn, W. Schmidt, B. Schoser, 2018, Neurology.

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

J. Zschocke, D. Karall, D. Bosshardt, 2017, Archives of oral biology.

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature

G. Webersinke, W. Kranewitter, K. Wimmer, 2018, Familial Cancer.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters

M. Schmuth, J. Zschocke, Magdalena Seidl-Philipp, 2019, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature

G. Webersinke, W. Kranewitter, K. Wimmer, 2018, Familial Cancer.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

F. Giuliano, A. Bloch-Zupan, S. Raskin, 2016, Journal of Medical Genetics.

Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

D. Hernandez, A. Singleton, H. Mefford, 2013, Human mutation.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

D. Nickerson, M. Dorschner, T. Meitinger, 2016, American journal of human genetics.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

T. Meitinger, T. Strom, H. Prokisch, 2018, Neuropediatrics.

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy

S. Tinschert, M. Schmuth, J. Zschocke, 2013, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

Zlatko Trajanoski, Stephan Pabinger, Christof von Kalle, 2012, American journal of human genetics.

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA

M. Schmuth, J. Zschocke, G. Stingl, 2015, The British journal of dermatology.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series

J. Zschocke, A. Schossig, H. Strobl, 2018, Clinical oral implants research.

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

J. Zschocke, E. Taşkiran, P. Simsek-Kiper, 2021, Journal of child neurology.

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

J. Zschocke, D. Karall, D. Bosshardt, 2017, Archives of oral biology.

Genotype-based databases for variants causing rare diseases.

C. Fauth, A. Deutschmann, J. Zschocke, 2014, Gene.

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.

J. Zschocke, N. Wolf, A. Kohlschütter, 2012, European Journal of Medical Genetics.