A. Janecke

R. Bale, R. Crazzolara, B. Meister, 2020, International journal of hyperthermia : the official journal of European Society for Hyperthermic Oncology, North American Hyperthermia Group.

Molecular diagnosis of type 1c glycogen storage disease

C. Bartram, B. Janssen, E. Mayatepek, 1999, Human Genetics.

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

M. Nöthen, E. Sprecher, R. Betz, 2009, The Journal of investigative dermatology.

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

G. Utermann, A. Janecke, T. Müller, 2001, Human Genetics.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide‐gated channel

S. Jacobson, A. Plomp, A. Janecke, 2010, Human mutation.

Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.

A. Kampik, A. Janecke, O. Rittinger, 2005, Ophthalmology.

A new, X-linked endothelial corneal dystrophy.

U. Schlötzer-Schrehardt, G. Utermann, A. Janecke, 2006, American journal of ophthalmology.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

C. Fauth, G. Utermann, M. Schmuth, 2007, European Journal of Human Genetics.

The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.

A. Zhernakova, C. Wijmenga, E. van Binsbergen, 2003, Journal of hepatology.

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

N. Warner, A. Franke, S. Travis, 2015, Human molecular genetics.

Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Y. Frishberg, S. Waldegger, A. Janecke, 2017, Human mutation.

Severe DGUOK Deficiency in Austria: A Six-Patient Series.

A. Janecke, T. Müller, J. Vodopiutz, 2018, Journal of pediatric gastroenterology and nutrition.

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

G. Utermann, A. Janecke, T. Müller, 2009, American journal of human genetics.

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

A. Janecke, T. Müller, J. Vodopiutz, 2019, Journal of pediatric gastroenterology and nutrition.

SPINT2 (HAI‐2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI‐2 to inhibit prostasin but not matriptase

V. Wolters, A. Janecke, K. Zimmer, 2018, Human molecular genetics.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

P755 Congenital chloride diarrhoea and inflammatory bowel disease: an emerging association

R. Russell, G. Castaldo, A. Janecke, 2020 .

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

J. Gécz, R. Reinhardt, S. Lenzner, 2005, American journal of human genetics.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

Ferroportin disease: A systematic meta-analysis of clinical and molecular findings☆

Wolfgang Vogel, Antonello Pietrangelo, Heinz Zoller, 2010, Journal of hepatology.

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

L. Medne, Michael A. Gonzalez, W. Löscher, 2016, Brain : a journal of neurology.

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

F. Santos-Simarro, E. Beaver, G. Povysil, 2020, Human mutation.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

A. Janecke, M. Bros, C. Hübner, 2011, Nature Genetics.

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

H. Budka, T. Pieber, M. Weger, 2011, Brain : a journal of neurology.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

Tomas W. Fitzgerald, N. Carter, M. Hurles, 2011, Journal of Medical Genetics.

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

F. Offner, A. Janecke, T. Müller, 2004, The Journal of pediatrics.

Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis

A. Schwabegger, A. Janecke, R. Forstner, 2009, Fetal Diagnosis and Therapy.

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

C. Wijmenga, V. Siu, F. Rüschendorf, 2009, American journal of human genetics.

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.

C. Wijmenga, R. Houwen, F. Offner, 2000, Gastroenterology.

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.

Molecular genetics of type 1 glycogen storage disease.

E. Mayatepek, G. Utermann, A. Janecke, 2001, Molecular genetics and metabolism.

“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.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

C. Blackstone, T. Strom, J. Zidar, 2011, American journal of human genetics.

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

A. Franke, W. Vogel, A. Janecke, 2015, Human molecular genetics.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

E. Bertini, R. Borgatti, T. Mazza, 2014, Human Genetics.

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.

F. Kronenberg, V. Carlton, R. Margreiter, 2003, The Journal of pediatrics.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

M. Carl, I. Harting, T. Meitinger, 2016, American journal of human genetics.

Loss of syntaxin 3 causes variant microvillus inclusion disease.

H. Clevers, R. Houwen, L. Huber, 2014, Gastroenterology.

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

N. Katsanis, M. McDonald, G. Povysil, 2019, Human mutation.

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

M. Claustres, A. Roux, A. Janecke, 2010, Human mutation.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

T. Pieber, W. Löscher, J. Senderek, 2011, Journal of Neurology.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

A. Ferbert, C. Rivolta, A. Antonellis, 2015, Brain : a journal of neurology.

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

W. Löscher, G. Utermann, A. Janecke, 2009, European Journal of Human Genetics.

Joubert-like syndrome unlinked to known candidate loci.

F. Kronenberg, G. Utermann, A. Janecke, 2004, The Journal of pediatrics.

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

H. Tilg, S. Kiechl, T. Todorov, 2022, Hepatology communications.

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

G. Utermann, A. Janecke, T. Müller, 2001, Journal of medical genetics.

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.

L. Bird, A. Janecke, T. Müller, 2010, Clinical dysmorphology.

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families

R. Rossi, A. Janecke, T. Müller, 2021, Children.

Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease

A. Janecke, T. Müller, P. Heinz-Erian, 2016, Journal of pediatric gastroenterology and nutrition.

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

A. Smahi, C. Bodemer, A. Munnich, 2014, Human Genetics.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

R. Houwen, P. Coffer, E. Nieuwenhuis, 2018, Gastroenterology.

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

A. Janecke, B. Plecko, R. Seidl, 2014, European Journal of Pediatrics.

Systematic screening and treatment evaluation of hereditary neck paragangliomas

G. Fraedrich, A. Janecke, P. Klein-Weigel, 2007, Head & neck.

An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking

H. Clevers, H. Begthel, J. van Es, 2015, Proceedings of the National Academy of Sciences.

Correction: The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase

S. Ferdinandusse, R. Wanders, M. Haslbeck, 2014, PLoS ONE.

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X

M. Speicher, W. Renner, A. Gerger, 2014, Nature Communications.

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

J. Gécz, H. Ropers, J. Fryns, 2010, PathoGenetics.

Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation

F. Messner, S. Schneeberger, A. Janecke, 2022, Children.

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation

A. Janecke, T. Müller, Georg F. Vogel, 2020, European Journal of Human Genetics.

Towards understanding microvillus inclusion disease

L. Huber, A. Janecke, T. Müller, 2016, Molecular and Cellular Pediatrics.

Loss‐of‐function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo‐2 RNAi cell model

Y. Révillon, N. Brousse, G. Utermann, 2010, Human mutation.

Hypoplasia of deep cerebellar nuclei in joubert syndrome.

E. Trinka, T. Gotwald, A. Janecke, 2009, Pediatric neurology.

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

H. Budka, K. Hodaňová, H. Hartmannová, 2013, Journal of the Neurological Sciences.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

P. D. Rijk, S. Züchner, Y. Parman, 2012, Nature Genetics.

Early onset congenital diarrheas; single center experience.

M. Çakır, A. Janecke, T. Müller, 2021, Pediatrics and neonatology.

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

S. Mundlos, A. Janecke, P. Seemann, 2014, Journal of molecular biology.

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

I. Mihalek, R. Wevers, Z. H. Zhang, 2012, Pediatrics.

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

G. Utermann, A. Janecke, H. Duba, 2003, American journal of medical genetics. Part A.

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

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

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Rhodopsin mutations in inherited retinal dystrophies and dysfunctions

A. Janecke, E. Apfelstedt-Sylla, A. Gal, 1997, Progress in Retinal and Eye Research.

CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort

W. Vogel, A. Janecke, H. Zoller, 2007, Wiener klinische Wochenschrift.

Further delineation of SLC9A3 ‐related congenital sodium diarrhea

A. Janecke, T. Müller, P. Heinz-Erian, 2022, Molecular genetics & genomic medicine.

A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations

R. Houwen, A. Janecke, T. Müller, 2021, Clinical and translational gastroenterology.

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

L. Huber, A. Janecke, T. Müller, 2020, Human Genetics.

Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease.

A. Janecke, T. Müller, P. Heinz-Erian, 2017, American journal of physiology. Regulatory, integrative and comparative physiology.

Mechanisms Underlying Dysregulation of Electrolyte Absorption in Inflammatory Bowel Disease-Associated Diarrhea.

A. Janecke, T. Müller, P. Heinz-Erian, 2016, Inflammatory bowel diseases.

CTG-21-0250 1..4

R. Houwen, A. Janecke, T. Müller, 2022 .

MRI‐Based Iron Phenotyping and Patient Selection for Next‐Generation Sequencing of Non–Homeostatic Iron Regulator Hemochromatosis Genes

H. Tilg, C. Kremser, A. Franke, 2021, Hepatology.

CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema‐cholestasis syndrome

S. Schneeberger, W. Vogel, A. Janecke, 2017, Hepatology.

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

W. Parson, L. Huber, A. Janecke, 2020, Clinical genetics.

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

M. Mildner, E. Tschachler, P. Elias, 2011, The American journal of pathology.

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

C. Brücke, S. Siegert, A. Kranzl, 2021, Genes.

A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants

A. Janecke, T. Müller, E. Steichen‐Gersdorf, 2017, Clinical genetics.

Blood transfusion in late anemia of prematurity: effect on oxygen consumption, heart rate, and weight gain in otherwise healthy infants.

O. Linderkamp, A. Janecke, T. Böhler, 1994, Infusionstherapie und Transfusionsmedizin.

Histology and synchrotron radiation‐based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

Rudolf Glueckert, Anneliese Schrott-Fischer, Felix Beckmann, 2010, American journal of medical genetics. Part A.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

D. Prayer, A. Mégarbané, D. Wieczorek, 2015, Human mutation.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Colin A. Johnson, C. Ober, R. Hegele, 2011, American journal of human genetics.

Refinement of the GINGF3 locus for hereditary gingival fibromatosis

G. Utermann, A. Janecke, A. Kreczy, 2009, European Journal of Pediatrics.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

M. Skalej, S. Mane, R. Lifton, 2021, Journal of the American Society of Nephrology : JASN.

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

G. Utermann, A. Janecke, A. Hirst-Stadlmann, 2001, European Journal of Human Genetics.

Molecular Screening of Chronic Diarrhea: A 2-Year Single-Center Experience

A. Janecke, G. Baysoy, E. Sarı, 2021 .

Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)

T. Rinne, N. Concin, C. Marth, 2008, Wiener klinische Wochenschrift.

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

M. Speicher, T. Pieber, V. Timmerman, 2008, Neuropediatrics.

Circadian variation on oxygen consumption in preterm infants

J. Gerss, J. Bauer, G. Hoffmann, 2009, Journal of perinatal medicine.

The 342‐kb deletion in GJB6 is not present in patients with non‐syndromic hearing loss from Austria

G. Utermann, P. Zorowka, A. Janecke, 2003, Human mutation.

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa

E. Zrenner, D. Besch, H. Jägle, 2005, British Journal of Ophthalmology.

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant

A. Janecke, J. Vodopiutz, F. Laccone, 2023, Genes.

A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea

A. Janecke, T. Müller, N. Neu, 2008, Journal of pediatric gastroenterology and nutrition.

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family

U. Schmidt-Erfurth, A. Janecke, J. Vodopiutz, 2012, British Journal of Ophthalmology.

Mutations in PDE6A, the Gene Encoding the α-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase, are Rare in Autosomal Recessive Retinitis Pigmentosa

A. Janecke, S. Pittler, A. Gal, 1997 .

Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.

Martin Hermann, Wolfgang Vogel, Heinz Zoller, 2011, Gastroenterology.

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

A. Janecke, T. Janjic, T. Müller, 2021, Molecular genetics & genomic medicine.

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

F. Alkuraya, A. Viestenz, L. Huber, 2021, Human Genetics.

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression

A. Janecke, T. Müller, Ç. Arıkan, 2020, JPGN reports.

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

H. M. Geller, W. Gahl, G. Golas, 2016, American journal of medical genetics. Part A.

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

K. Mills, F. Forneris, M. Schmuth, 2017, The Journal of investigative dermatology.

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

P. Lercher, M. Schmuth, A. Janecke, 2010, Wiener klinische Wochenschrift.

Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.

L. Huber, A. Janecke, T. Müller, 2017, JCI insight.

Histopathological and neuroradiological features of Usher syndrome type II.

A. Janecke, A. Martini, A. Ciorba, 2008, B-ENT.

Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3

L. Huber, A. Janecke, T. Müller, 2015, The Journal of cell biology.

Extremely severe hypochloremic metabolic alkalosis after ileorectal anastomosis in a patient with chronic intestinal pseudo-obstruction

A. Janecke, T. Müller, H. Zoller, 2022, Gastroenterology report.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

S. Nampoothiri, K. Kutsche, A. Janecke, 2021, Brain : a journal of neurology.

Van-der-Woude-Syndrom

A. Janecke, B. Schutte, H. Piza-Katzer, 2007, Klinische Padiatrie.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

Chronic Idiopathic Intestinal Pseudo-obstruction

A. L. Wong, J. Belmont, M. Dichgans, 2011 .

[Cutaneous amyloidoses].

A. L. Wong, J. Belmont, D. Roden, 1990, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Significance of Molecular Testing for Congenital Chloride Diarrhea

A. Zankl, U. Querfeld, A. Janecke, 2011, Journal of pediatric gastroenterology and nutrition.

[Chronic venous insufficiency].

V Wienert, G Hauer, A Lentner, 1996, Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen.

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human Genetics.

SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption

A. Janecke, Georg F. Vogel, Lukas A. Huber, 2023, Genes.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

R. Houwen, P. Coffer, E. Nieuwenhuis, 2018, Gastroenterology.

Ferroportin disease: A systematic meta-analysis of clinical and molecular findings☆

W. Vogel, W. Griffiths, A. Janecke, 2010, Journal of hepatology.

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

H. Zentgraf, I. Ebermann, H. Bolz, 2011, The Journal of clinical investigation.

Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”

A. Janecke, T. Müller, J. Baenziger, 2011, Human mutation.

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

A. D. den Hollander, F. Cremers, A. Janecke, 2012, PloS one.

Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

Lee E. Edsall, P. Sieving, T. Gaasterland, 2012, PloS one.

Mutation spectrum of type I glycogen storage disease in Hungary

G. Utermann, A. Janecke, L. Szőnyi, 2005, Journal of Inherited Metabolic Disease.

Mutation analysis in glycogen storage disease type 1 non-a

E. Mayatepek, F. Fresser, G. Utermann, 2000, Human Genetics.