J. Zschocke

I. Harting, K. Sartor, B. Janssen, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature.

A. Jauch, J. Zschocke, G. Tariverdian, 2005, Clinical dysmorphology.

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.

Diagnosis and Therapy Before Assisted Reproductive Treatments. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Register Number 015-085, February 2019) - Part 1, Basic Assessment of the Woman.

S. Rudnik-Schöneborn, G. Pinggera, J. Krüssel, 2019, Geburtshilfe und Frauenheilkunde.

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

P. Scambler, R. Surtees, P. Clayton, 2005, Human molecular genetics.

The COMTp.Val158Met Polymorphism and Cognitive Performance in Adult Development, Healthy Aging and Mild Cognitive Impairment

H. Wahl, J. Schröder, P. Schönknecht, 2015, Dementia and Geriatric Cognitive Disorders.

Two patients with Papillon–Lefèvre syndrome without periodontal involvement of the permanent dentition

M. Schmuth, J. Zschocke, R. Gruber, 2021, The Journal of dermatology.

Amino acid metabolism in patients with propionic acidaemia

J. Sass, J. Zschocke, D. Karall, 2012, Journal of Inherited Metabolic Disease.

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

I. Harting, C. Fischer, U. Moog, 2014, Journal of child neurology.

Molecular and functional characterisation of mild MCAD deficiency

R. Wanders, E. Mayatepek, J. Zschocke, 2001, Human Genetics.

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

A. Ribes, A. Ormazabal, R. Artuch, 2008, Molecular genetics and metabolism.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

W. Foulkes, M. Jackson, K. Dahan, 2019, Human mutation.

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

K. Wimmer, N. Friedrichs, J. Zschocke, 2022, Biomolecules.

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

H. Runz, M. Muenke, G. Hoffmann, 2007, Journal of Medical Genetics.

Oral manifestations of Ehlers‐Danlos syndromes

J. Zschocke, I. Kapferer-Seebacher, Ulrike Lepperdinger, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

Identification of 14 novel mutations in DHCR7 causing the Smith‐Lemli‐Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

P. Clayton, G. Utermann, R. Kelley, 2005, Human mutation.

Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia

H. Möller, P. Guldberg, J. Denecke, 2001, Pediatric Research.

The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers

C. Graham, J. Zschocke, N. Nevin, 1994, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?

A. Bener, J. Zschocke, G. Hoffmann, 2007, Molecular genetics and metabolism.

Phenylketonuria mutations in Europe

J. Zschocke, 2003, Human mutation.

The Genetic Landscape and Epidemiology of Phenylketonuria.

V. Stoppioni, J. Vockley, B. Burton, 2020, American journal of human genetics.

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

J. Dötsch, W. Rascher, I. Knerr, 2005, BMC pediatrics.

Focus on the molecular genetics of phenylketonuria

J. Zschocke, 2003, Human mutation.

The molecular basis of phenylalanine hydroxylase deficiency in Croatia

J. Zschocke, G. Hoffmann, I. Barić, 2003, Human mutation.

A Molecular Survey of Phenylketonuria in Iceland: Identification of a Founding Mutation and Evidence of Predominant Norse Settlement

P. Guldberg, F. Güttler, J. Zschocke, 1997, European journal of human genetics : EJHG.

Quo vadis now: Beyond genomics to an era of personalised medicine

M. Baumgartner, M. Patterson, S. Rahman, 2022, Journal of inherited metabolic disease.

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

S. Rudnik-Schöneborn, J. Zschocke, B. Simma, 2020, American journal of medical genetics. Part A.

Long- and short-term fluctuations compared for several organ systems across sleep stages

T. Penzel, J. Kantelhardt, R. Bartsch, 2022, Frontiers in Network Physiology.

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.

J. Schouten, B. Janssen, J. Zschocke, 2007, Molecular and cellular probes.

Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia

L. Moo, H. Jinnah, J. Zschocke, 2001, Journal of neurology, neurosurgery, and psychiatry.

Mild trimethylaminuria caused by common variants in FM03 gene

E. Mayatepek, G. Hoffmann, J. Zschocke, 1999, The Lancet.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

W. Schmidt, A. Janecke, T. Müller, 2017, European Journal of Human Genetics.

Issues with European guidelines for phenylketonuria.

M. Langeveld, C. Hollak, R. Lachmann, 2017, The lancet. Diabetes & endocrinology.

Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.

L. Hunt, J. Bidwell, J. Zschocke, 1995, Journal of medical genetics.

ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism

M. Keller, J. Zschocke, D. Karall, 2022, Cellular and Molecular Life Sciences.

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

I. Harting, E. Boltshauser, E. Martin, 2005, Neurology.

Quo vadis: the re-definition of “inborn metabolic diseases”

M. Baumgartner, M. Patterson, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

L. de Meirleir, R. Wevers, S. Wortmann, 2015, Neuropediatrics.

Framework and baseline examination of the German National Cohort (NAKO)

J. Linseisen, W. Rathmann, D. Rujescu, 2022, European Journal of Epidemiology.

Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status

M. Merkel, J. Zschocke, R. Santer, 2009, Journal of Inherited Metabolic Disease.

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

F. Muntoni, C. Fauth, K. Rostásy, 2012, American journal of human genetics.

Synthesis and metabolism of leukotrienes in γ-glutamyl transpeptidase deficiency Published, JLR Papers in Press, February 1, 2004. DOI 10.1194/jlr.M300462-JLR200

W. Lehmann, E. Mayatepek, J. Zschocke, 2004, Journal of Lipid Research.

Membrane Sphingolipids Regulate the Fitness and Antifungal Protein Susceptibility of Neurospora crassa

M. Keller, N. Malanovic, J. Zschocke, 2019, Front. Microbiol..

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.

Clinical utility gene card for: Phenylketonuria

L. Møller, J. Zschocke, T. Haverkamp, 2011, European Journal of Human Genetics.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Sarcoid-like lesions obfuscating the diagnosis of disseminated Mycobacterium genavense infection in a patient with IL-12Rβ1-associated immunodeficiency

J. Zschocke, A. Pizzini, I. Tancevski, 2022, BMC Infectious Diseases.

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency

M. Baumgartner, J. Zschocke, E. Auff, 2017, Journal of the Neurological Sciences.

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry No. 015/050, May 2022)

S. Rudnik-Schöneborn, E. Schleußner, J. Zschocke, 2022, Geburtshilfe und Frauenheilkunde.

Intrinsic carnosine metabolism in the human kidney

H. Baelde, Emile de Heer, Kimberley A. M. Veraar, 2015, Amino Acids.

Carnosine metabolism in diabetes is altered by reactive metabolites

W. Yue, M. Hecker, P. Nawroth, 2015, Amino Acids.

Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism

M. Keller, J. Zschocke, D. Karall, 2022, Cellular and Molecular Life Sciences.

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

A. Mégarbané, B. Andresen, J. Sass, 2008, Molecular genetics and metabolism.

ALG8-CDG: novel patients and review of the literature

C. Fauth, Michael Höck, D. Lefeber, 2015, Orphanet Journal of Rare Diseases.

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

C. Fauth, K. Wimmer, U. Lehmann, 2016, Familial Cancer.

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.

J. Zschocke, P. Burgard, U. Langenbeck, 2015, JIMD reports.

Eye burns: an emergency and continuing problem.

M. Reim, J. Zschocke, N. Schrage, 2000, Burns : journal of the International Society for Burn Injuries.

Family Issues, Carrier Tests, and Prenatal Diagnosis

J. Zschocke, 2017 .

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

A. Brady, Diana S. Johnson, J. Zschocke, 2022, Journal of clinical periodontology.

Phenylketonuria and the peoples of Northern Ireland

J. Mallory, J. Zschocke, H. Eiken, 1997, Human Genetics.

JIMD Reports, Volume 41: Focus Issue: Adults and Metabolism

M. Baumgartner, M. Patterson, S. Rahman, 2018, JIMD Reports.

Diagnosis and Treatment Before Assisted Reproductive Treatments. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Register Number 015-085, February 2019) - Part 2, Hemostaseology, Andrology, Genetics and History of Malignant Disease.

S. Rudnik-Schöneborn, G. Pinggera, J. Krüssel, 2019, Geburtshilfe und Frauenheilkunde.

A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

K. Kavanagh, R. Wanders, C. Bartram, 2010, EMBO molecular medicine.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Johannes Zschocke, Thomas Opladen, I. Harting, 2017, Journal of Inherited Metabolic Disease.

JIMD Reports, Volume 36

M. Baumgartner, M. Patterson, S. Rahman, 2017, JIMD Reports.

Emergency management of inherited metabolic diseases

W. Nyhan, J. Zschocke, G. Hoffmann, 2002, Journal of Inherited Metabolic Disease.

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.

W. Nyhan, G. Hoffmann, J. Zschocke, 1999, Molecular genetics and metabolism.

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

A. Ribes, B. Merinero, E. Christensen, 2004, Journal of Inherited Metabolic Disease.

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

M. Pourfarzam, J. Zschocke, S. Kölker, 2003, Neuropediatrics.

Mutation analysis in glutaric aciduria type I

P. Guldberg, J. Zschocke, G. Hoffmann, 2000, Journal of medical genetics.

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

W Lehnert, M. Durán, E. Christensen, 1996, Neuropediatrics.

Glutaryl‐CoA Dehydrogenase

J. Zschocke, S. Kölker, G. Hoffmann, 2002 .

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy

M. Baumgartner, P. Clayton, J. Zschocke, 2007, Journal of Inherited Metabolic Disease.

JIMD Reports, Volume 26

M. Baumgartner, M. Patterson, S. Rahman, 2016, JIMD Reports.

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

J. Zschocke, G. Hoffmann, J. Klepper, 2009, BMJ Case Reports.

The Ehlers–Danlos syndromes, rare types

N. Voermans, A. Brady, J. Zschocke, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Biochemical characterization of human 3‐methylglutaconyl‐CoA hydratase and its role in leucine metabolism

M. Mack, J. Zschocke, V. Peters, 2006, The FEBS journal.

Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.

H. Hammes, C. Bartram, C. Fischer, 2005, Diabetes.

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome.

C. Fauth, G. Pinggera, P. Vogt, 2013, Fertility and sterility.

Genetic basis of hyperlysinemia

M. Baumgartner, S. Denis, H. te Brinke, 2013, Orphanet Journal of Rare Diseases.

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

W. Yue, H. Steinbeisser, A. Deutschmann, 2014, Human molecular genetics.

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

J. Zschocke, N. Parvaneh, Z. Rezaei, 2018, Orphanet Journal of Rare Diseases.

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.

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers

H. Hennies, T. Šarić, P. Nürnberg, 2021, International journal of molecular sciences.

JIMD Reports, Volume 45

M. Baumgartner, M. Patterson, S. Rahman, 2019, JIMD Reports.

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults

P. Schirmacher, K. Hemminki, B. Burwinkel, 2008, Hepatology.

Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders

B. Janssen, J. Zschocke, 2008 .

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

C. Fauth, H. Fiegl, K. Wimmer, 2015, European Journal of Human Genetics.

PEDIA: prioritization of exome data by image analysis

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

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Christian Gilissen, Johannes Zschocke, Radek Szklarczyk, 2013, Human molecular genetics.

A survey of tools for variant analysis of next-generation genome sequencing data

Michael R. Speicher, Zlatko Trajanoski, Michael Sperk, 2013, Briefings Bioinform..

Nature and nurture in vitamin B12 deficiency

J. Zschocke, G. Hoffmann, M. Albani, 2002, Archives of disease in childhood.

Leukotrienes in patients with clinically active multiple sclerosis

E. Mayatepek, J. Zschocke, I. Neu, 2002, Acta neurologica Scandinavica.

JIMD Reports, Volume 43

M. Baumgartner, M. Patterson, S. Rahman, 2019, JIMD Reports.

Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.

W. Yue, U. Oppermann, A. Turnbull, 2010, Journal of molecular biology.

Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis

J. Zschocke, G. Hoffmann, B. Fritz, 1999, Journal of Inherited Metabolic Disease.

A role for overdominant selection in phenylketonuria? Evidence from molecular data

M. Krawczak, J. Zschocke, 2003, Human mutation.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

P. Guldberg, I. Dianzani, V. Romano, 1998, American journal of human genetics.

Functional PMS2 hybrid alleles containing a pseudogene‐specific missense variant trace back to a single ancient intrachromosomal recombination event

H. Kehrer-Sawatzki, L. Messiaen, K. Wimmer, 2010, Human mutation.

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

S. Robertson, K. Wimmer, M. Nyström, 2012, European Journal of Human Genetics.

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

C. Fauth, G. Utermann, J. Zschocke, 2013, European journal of medical genetics.

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

K. Wimmer, C. Kratz, J. Zschocke, 2016, European Journal of Human Genetics.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

H. Prokisch, C. Fauth, T. Pippucci, 2018, Journal of Medical Genetics.

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Yunjia Chen, M. Jackson, J. Burn, 2020, Genetics in Medicine.

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

S. Rudnik-Schöneborn, E. Schleußner, J. Zschocke, 2018, Geburtshilfe und Frauenheilkunde.

Dominant versus recessive: Molecular mechanisms in metabolic disease

J. Zschocke, 2008, Journal of Inherited Metabolic Disease.

A novel therapeutic approach for LPIN1 mutation–associated rhabdomyolysis—The Austrian experience

J. Zschocke, D. Karall, R. Birnbacher, 2015, Muscle & nerve.

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.

JIMD Reports, Volume 39

M. Patterson, S. Rahman, J. Zschocke, 2018, JIMD Reports.

JIMD Reports, Volume 23

M. Baumgartner, M. Patterson, S. Rahman, 2015 .

Mendelian inheritance revisited: dominance and recessiveness in medical genetics

P. Byers, A. Wilkie, J. Zschocke, 2023, Nature Reviews Genetics.

Disturbed cofactor binding by a novel mutation in UDP-galactose 4′-epimerase results in a type III galactosemia phenotype at birth

D. Timson, J. Zschocke, T. J. McCorvie, 2016 .

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

W. Schmidt, A. Janecke, T. Müller, 2016, European Journal of Human Genetics.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

M. Kloor, M. van der Burg, H. Baris, 2018, Front. Immunol..

“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype

F. Fresser, G. Utermann, A. Janecke, 2009, American journal of medical genetics. Part A.

Hereditary Syndromes and Pancreatic Cancer

K. Claes, J. Zschocke, L. Pölsler, 2021 .

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.

A. Bener, T. Ben-Omran, J. Zschocke, 2010, The Journal of pediatrics.

Don’t miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation

J. Zschocke, M. Witsch-Baumgartner, D. Kotzot, 2014, European Journal of Pediatrics.

Quantitative Acylcarnitine Profiling in Peripheral Blood Mononuclear Cells Using In Vitro Loading With Palmitic and 2-Oxoadipic Acids: Biochemical Confirmation of Fatty Acid Oxidation and Organic Acid Disorders

H. Schulze‐Bergkamen, E. Mayatepek, C. Greenberg, 2005, Pediatric Research.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)

C. Fauth, G. Utermann, J. Zschocke, 2010, American journal of medical genetics. Part A.

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

V. Beneš, C. Fauth, Benjamin Raeder, 2013, European Journal of Human Genetics.

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.

Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss

F. Muntoni, C. Fauth, K. Rostásy, 2022 .

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

H. Hennies, P. Nürnberg, J. Altmüller, 2019, Molecular genetics & genomic medicine.

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome

N. Thielens, J. Zschocke, C. Gaboriaud, 2023, Frontiers in Immunology.

Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3.

E. Mayatepek, J. Zschocke, B. Flock, 2004, Pharmacogenetics.

[Measuring physical fitness in the German National Cohort-methods, quality assurance, and first descriptive results].

R. Mikolajczyk, W. Ahrens, M. Schulze, 2020, Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz.

Gregor Mendel and the concepts of dominance and recessiveness

P. Byers, A. Wilkie, J. Zschocke, 2022, Nature Reviews Genetics.

A 1.1 Million Base Pair X-Chromosomal Deletion Covering the PDHA1 and CDKL5 Genes in a Female Patient with West Syndrome and Pyruvate Oxidation Deficiency

C. Fauth, J. Zschocke, W. Sperl, 2012, Neuropediatrics.

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

J. Zschocke, 2012, Journal of Inherited Metabolic Disease.

Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal

M. Hecker, H. Baelde, B. Yard, 2018, Cellular Physiology and Biochemistry.

Carnosine treatment largely prevents alterations of renal carnosine metabolism in diabetic mice

M. Gross, K. Brismar, J. Zschocke, 2012, Amino Acids.

JIMD Reports, Volume 44

M. Baumgartner, M. Patterson, S. Rahman, 2019, JIMD Reports.

Large BRCA1 gene deletions are found in 3% of German high‐risk breast cancer families

C. Bartram, R. Klaes, B. Janssen, 2004, Human mutation.

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma

M. Keller, J. Zschocke, D. Nachbaur, 2022, European journal of haematology.

Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia‐variant

M. Steurer, J. Zschocke, D. Nachbaur, 2020, Genes, chromosomes & cancer.

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype

C. Fauth, G. Utermann, J. Zschocke, 2012, American journal of medical genetics. Part A.

Variability of Blood—Brain Ratios of Phenylalanine in Typical Patients with Phenylketonuria

R. Kreis, C. Boesch, J. Slotboom, 2001, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk

C. Gieger, F. Kronenberg, A. Peters, 2022, Circulation. Genomic and precision medicine.

Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy

J. Zschocke, G. Hoffmann, 1999, Journal of Inherited Metabolic Disease.

Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence

J. Zschocke, I. Kapferer-Seebacher, R. Schilke, 2021, Frontiers in Dental Medicine.

Inherited metabolic diseases : a clinical approach

W. Nyhan, J. Zschocke, G. Hoffmann, 2009 .

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

R. Badii, A. Bener, J. Zschocke, 2006, Human mutation.

A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2

C. Marshall, R. Weksberg, C. Fauth, 2016, American journal of medical genetics. Part A.

Molecular neonatal screening for homocystinuria in the Qatari population

C. Fischer, T. Ben-Omran, J. Zschocke, 2009, Human mutation.

In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations

H. Möller, D. Wiedermann, J. Zschocke, 1998, Journal of Inherited Metabolic Disease.

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

H. Rehder, J. Zschocke, R. Schmitz, 2019, Birth defects research.

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

F. Güttler, J. Zschocke, L. Tyfield, 2007, Human mutation.

Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia

C. Patterson, C. Graham, J. Zschocke, 2000, Archives of disease in childhood.

Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review

J. Zschocke, J. Häberle, F. Sayarifard, 2017 .

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls

A. Jauch, B. Janssen, J. Zschocke, 2005, Neurogenetics.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

I. Harting, J. Zschocke, S. Kölker, 2009, Brain : a journal of neurology.

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

P. Chakraborty, O. Al-Dirbashi, L. Fisher, 2011, Journal of Inherited Metabolic Disease.

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.

J. Zschocke, R. Chalmers, M. Bain, 2006, Molecular genetics and metabolism.

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria

Johannes Zschocke, S. Gersting, J. Zschocke, 2015, Journal of Medical Genetics.

Homozygous familial hypercholesterolaemia in identical twins

J. Zschocke, J. Schaefer, 2003, The Lancet.

Formation of a familial ring chromosome 18 investigated by SNP‐array analysis

J. Zschocke, S. Balcı, D. Kotzot, 2014, American Journal of Medical Genetics. Part A.

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

A. Green, C. Fauth, C. Kim, 2013, The Journal of pediatrics.

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

C. Fauth, C. Lamina, J. Dobesberger, 2019, European journal of medical genetics.

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.

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

C. Fauth, K. Rostásy, G. Utermann, 2014, Clinical genetics.

Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease

N. E. Mokhtari, M. Krawczak, B. Janssen, 2006, Mechanisms of Ageing and Development.

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

R. Pai, K. Wimmer, M. Schmuth, 2021, Human mutation.

Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency.

L. Guerrini-Rousseau, K. Dahan, G. Borthwick, 2022, Gastroenterology.

The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells

M. Keller, S. Geley, J. Zschocke, 2021, Journal of inherited metabolic disease.

Fatty acyl availability modulates cardiolipin composition and alters mitochondrial function in HeLa cells

M. Keller, H. Lindner, J. Zschocke, 2020, bioRxiv.

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

C. Fauth, C. Schwarzer, K. Rostásy, 2012, Annals of human genetics.

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

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

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

J. Zschocke, F. Pope, D. Schnabl, 2020, Acta dermato-venereologica.

New guidelines on recurrent miscarriage of the German, Austrian and Suisse society of obstetrics and gynecology (DGGG, OEGGG, SGGG)

S. Rudnik-Schöneborn, E. Schleußner, J. Zschocke, 2018, Journal of Reproductive Immunology.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

A. Boneh, J. Zschocke, J. Yaplito-Lee, 2015, Journal of Inherited Metabolic Disease.

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

M. Durán, R. Wevers, S. Wortmann, 2013, Journal of Inherited Metabolic Disease.

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.

Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study.

G. Kemmler, B. Sperner-Unterweger, J. Zschocke, 2016, Journal of psychosomatic research.

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

B. Kollerits, J. Zschocke, E. Steichen‐Gersdorf, 2012, European Journal of Human Genetics.

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

M. Rudnicki, H. Antretter, G. Mayer, 2016, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[Physical activity in the German National Cohort (NAKO): use of multiple assessment tools and initial results].

J. Linseisen, A. Peters, R. Mikolajczyk, 2020, Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz.

Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)

J. Zschocke, G. Hoffmann, P. Burgard, 2007, Journal of Inherited Metabolic Disease.

High frequency of p.Thr93Met in Smith‐Lemli‐Opitz syndrome patients in Turkey

H. Rehder, S. Kurtoğlu, J. Zschocke, 2012, Clinical genetics.

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

J. Vockley, S. Ghisla, M. Mack, 2019, JIMD reports.

Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome.

G. Utermann, J. Zschocke, M. Höckner, 2010, Fertility and sterility.

New symptomatic patients with glutaric aciduria type 3: further evidence of high prevalence of the c.1006C>T (p.Arg336Trp) mutation

J. Zschocke, I. Barić, K. Fumic, 2016 .

Glutaric aciduria type III: A distinctive non-disease?

W. Rascher, I. Knerr, E. Christensen, 2002, Journal of Inherited Metabolic Disease.

Inherited disorders of intermediary metabolism – a group-based approach

J. Zschocke, 2021, Medizinische Genetik.

SSIEM Classification of Inborn Errors of Metabolism

J. Zschocke, 2014 .

UvA-DARE ( Digital Academic Repository ) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH 2 gene

R. Wanders, M. Durán, J. Sass, 2003 .

Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes

W. Newman, W. Yue, U. Oppermann, 2018, The Journal of Biological Chemistry.

Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF

R. Robinson, R. Surtees, R. Wevers, 2004, Neurology.

Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patients

W. Oertel, J. C. Möller, O. Bandmann, 2004, Movement disorders : official journal of the Movement Disorder Society.

Inter-Rater Reliability of the International Cooperative Ataxia Rating Scale (ICARS)

W. Oertel, J. C. Möller, O. Bandmann, 2004 .

Genotype and phenotype variability in Sjögren‐Larsson syndrome

M. Keller, W. Rizzo, M. Schmuth, 2018, Human mutation.

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF

I. Harting, P. Pouwels, U. Engelke, 2004, Neurology.

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes

N. Thielens, J. Zschocke, C. Gaboriaud, 2019, Front. Immunol..

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

N. Thielens, J. Zschocke, C. Gaboriaud, 2019, Front. Immunol..

PEDIA: prioritization of exome data by image analysis

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

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.

V. Ramaekers, J. Zschocke, S. Kölker, 2001, The Journal of pediatrics.

Lipid extraction and detection by LC-MS/MS

M. Keller, J. Zschocke, D. Karall, 2022 .

[Primary trimethylaminuria or fish odor syndrome. A novel mutation in the first documented case in Spain].

U. Engelke, R. Wevers, J. Zschocke, 2003, Medicina clinica.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Robert W. Taylor, I. Hochberg, W. Newman, 2021, American journal of human genetics.

Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study

A. Więcek, H. Heerspink, Johannes Leierer, 2022, Kidney international reports.

The genetic counseling profession in Austria: Stakeholders’ perspectives

S. Rudnik-Schöneborn, J. Zschocke, C. Benjamin, 2021, Journal of genetic counseling.

The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.

J. D. de Vries-Bouwstra, R. Fischer-Betz, Matthias Schneider, 2022, Clinical and experimental rheumatology.

Disorder of Glutathione Metabolism

J. Zschocke, V. Peters, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review

J. Zschocke, A. Tavasoli, P. Rostami, 2017, Brain and Development.

3-methylglutaconic aciduria type I in a boy with fever-associated seizures.

K. Gibson, J. Zschocke, A. Das, 2004, Pediatric neurology.

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

J. Zschocke, N. Ghali, D. Johnson, 2023, Frontiers in Genetics.

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

J. Zschocke, A. Bohring, S. Biskup, 2021, Biomolecules.

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Q. Waisfisz, E. Gizewski, S. Boesch, 2018, neurogenetics.

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.

Human Genetics: From Molecules to Medicine

Johannes Zschocke, Lorraine Potocki, C. Schaaf, 2011 .

Comprar Human Genetics: From Molecules To Medicine | Lorraine Potocki | 9781608316717 | Lippincott Williams & Wilkins

Johannes Zschocke, Lorraine Potocki, C. Schaaf, 2012 .

Modelling the phenylalanine blood level response during treatment of phenylketonuria

J. Zschocke, U. Langenbeck, U. Wendel, 2001, Journal of Inherited Metabolic Disease.

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

H. Rehder, J. Zschocke, F. Laccone, 2011, European Journal of Human Genetics.

JIMD Reports, Volume 30

M. Baumgartner, M. Patterson, S. Rahman, 2016, JIMD Reports.

Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations

S. Rahman, P. Clayton, J. Zschocke, 2003, European Journal of Pediatrics.

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas

U. Felbor, C. Fauth, K. Rostásy, 2015, Clinical Neurology and Neurosurgery.

Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease

M. Baumgartner, M. Patterson, S. Rahman, 2023, Journal of inherited metabolic disease.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop

S. Rudnik-Schöneborn, J. Zschocke, W. Hofmann, 2021, Medizinische Genetik.

JIMD Reports, Volume 20

M. Baumgartner, M. Patterson, S. Rahman, 2015 .

Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria and ACAD8 gene mutations in two infants

J. Sass, J. Zschocke, S. Sander, 2004, Journal of Inherited Metabolic Disease.

Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

R. Wanders, E. Mayatepek, J. Zschocke, 2000, Pediatric Research.

Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options

J. Zschocke, G. Hoffmann, A. Burlina, 2004, Journal of Inherited Metabolic Disease.

Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism

M. Keller, J. Zschocke, D. Karall, 2022, Cellular and Molecular Life Sciences.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Robert W. Taylor, I. Hochberg, W. Newman, 2017, bioRxiv.

JIMD Reports, Volume 42

M. Baumgartner, M. Patterson, S. Rahman, 2018, JIMD Reports.

PAH gene mutation analysis in clinical practice – comments on mutation analysis anticipates dietary requirements in phenylketonuria

J. Zschocke, G. Hoffmann, 2000, European Journal of Pediatrics.

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores

F. Kronenberg, L. Forer, J. Zschocke, 2023, Clinical genetics.

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.

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

S. Rudnik-Schöneborn, G. Pinggera, J. Zschocke, 2020, Human reproduction.

Inherited Metabolic Diseases

W. Nyhan, J. Zschocke, F. Hoffmann, 2002 .

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

P. Nürnberg, M. Schmuth, A. Udvardi, 2017, British Journal of Dermatology.

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

L. Giordano, J. Zschocke, A. Burlina, 2016, European Journal of Pediatrics.

JIMD Reports, Volume 18

M. Baumgartner, M. Patterson, S. Rahman, 2015 .

3-Methylglutaconyl-CoA hydratase from Acinetobacter sp

D. Linder, M. Mack, J. Zschocke, 2006, Archives of Microbiology.

Unequivocal mapping of molecular ether lipid species by LC-MS/MS in plasmalogen-deficient mice

E. Werner, K. Watschinger, M. Keller, 2020, bioRxiv.

Inflammatory bowel disease in STAT1 gain-of-function immunodeficiency treated with precision medicine

H. Tilg, J. Zschocke, W. Sturm, 2023, Gut.

Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations

C. Fusch, J. Zschocke, L. Neumann, 2005, Journal of Inherited Metabolic Disease.

Reconstruction of the respiratory signal through ECG and wrist accelerometer data

T. Penzel, J. Kantelhardt, R. Bartsch, 2020, Scientific Reports.

Unequivocal Mapping of Molecular Ether Lipid Species by LC–MS/MS in Plasmalogen-Deficient Mice

E. Werner, K. Watschinger, M. Keller, 2020, Analytical chemistry.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

I. Harting, J. Zschocke, S. Kölker, 2009, Brain : a journal of neurology.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

I. Harting, C. Greenberg, J. Zschocke, 2017, Journal of Inherited Metabolic Disease.

Compliance to Clinical Guidelines Determines Outcome in Glutaric Aciduria Type I in the Era of Newborn Screening

J. Sass, J. Zschocke, M. Huemer, 2010, Klinische Padiatrie.

Analysis of gene expression data on metabolic networks

G. Reinelt, R. Eils, R. König, 2007 .

Faecal tagging to avoid colonic cleansing before MRI colonography

J. Zschocke, J Zschocke, 1999 .

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

M. Huynen, J. Veltman, R. Rodenburg, 2013, Human molecular genetics.

NPC‐db, a Niemann‐Pick type C disease gene variation database

H. Runz, J. Zschocke, A. Schlitter, 2008, Human mutation.

Carnosine treatment largely prevents alterations of renal carnosine metabolism in diabetic mice

M. Gross, K. Brismar, J. Zschocke, 2011, Amino Acids.

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency

J. Zschocke, V. Peters, C. Schmitt, 2018, Journal of Inherited Metabolic Disease.

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

H. Rehder, J. Zschocke, F. Laccone, 2011, European Journal of Human Genetics.

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

C. Fauth, D. Meierhofer, J. Zschocke, 2011, American journal of human genetics.

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.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

Family History for Neurodegeneration in Multiple System Atrophy: Does it Indicate Susceptibility?

W. Poewe, S. Kiechl, P. Mahlknecht, 2022, Movement disorders : official journal of the Movement Disorder Society.

Genotype-based databases for variants causing rare diseases.

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

AGO Austria recommendations for genetic testing of patients with ovarian cancer

C. Singer, C. Marth, A. Reinthaller, 2015, Wiener klinische Wochenschrift.

Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis

G. Golderer, E. Werner, S. Coassin, 2018, The Journal of infectious diseases.

Nächtliche Verkehrslärmbelästigung in Deutschland: individuelle und regionale Unterschiede in der NAKO Gesundheitsstudie

W. Rathmann, R. Mikolajczyk, W. Ahrens, 2020, Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz.

Consensus case definitions for MCADD among infants with presumptive positive newborn screening results

B. Andresen, J. Leonard, M. Pourfarzam, 2006 .

Molecular Genetic Analyses

J. Zschocke, 2017 .

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.

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

Molecular neonatal screening for homocystinuria in the Qatari population

C. Fischer, T. Ben-Omran, J. Zschocke, 2009, Human mutation.

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

J. Zschocke, M. Witsch-Baumgartner, R. Stigler, 2020, Clinical Oral Investigations.