List of works - Andreas Janecke

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype

scientific article published in November 2009

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

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

scientific article

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure

scientific article

A new, X-linked endothelial corneal dystrophy

scientific article

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

scientific article published on 11 January 2017

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

scientific article published on 18 April 2020

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

scientific article published in April 2001

Assessment of energy expenditure in metabolic disorders ⬇️

scientific article published on August 1, 1997

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

scientific article published in December 1994

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

article

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

scientific article published on 03 December 2019

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

scientific article published on 01 January 2010

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

scientific article published on 13 February 2013

Circadian variation on oxygen consumption in preterm infants

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

scientific article

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

scientific article

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

scientific article published on 20 March 2020

Coexistence ofKCNV2associated cone dystrophy with supernormal rod electroretinogram andMFRPrelated oculopathy in a Turkish family

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome

scientific article

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

article

Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase

scientific article published on January 2010

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

scientific article published on 20 May 2015

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

article

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

article

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

scientific article published in March 2001

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

scientific article published on 10 September 2012

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

scientific article

Eculizumab for Atypical Hemolytic–Uremic Syndrome

scientific article published on 01 January 2009

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

scientific article

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

article

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

scientific article published in March 2010

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

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

scientific article

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

scientific article

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

scientific article

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

article

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

scientific article published on 16 January 2020

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

scientific article published on 30 July 2007

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

scientific article published on 01 March 2005

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

scientific article

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

scientific article published on 19 October 2013

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

scientific article published on 9 January 2011

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

scientific article

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

scientific article

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

scientific article

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

scientific article published on 28 January 2011

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

scientific article published on 01 March 2010

Histopathological and neuroradiological features of Usher syndrome type II.

scientific article published on January 2008

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

scientific article published on 12 October 2012

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

scientific article published on 26 October 2016

Hypochloremic metabolic alkalosis and failure to thrive: answer

scientific article published on 28 October 2010

Hypochloremic metabolic alkalosis and failure to thrive: question

article

Hypoplasia of deep cerebellar nuclei in joubert syndrome

scientific article published in June 2009

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

scientific article

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

scientific article

Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

article

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria

scientific article

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

scientific article published on 18 June 2009

Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants

scientific article published in April 1999

Inherited ichthyoses/generalized Mendelian disorders of cornification

scientific article published on 27 June 2012

Joubert-like syndrome unlinked to known candidate loci

scientific article published in February 2004

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

scientific article published on 23 May 2013

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

scientific article published on 01 April 2011

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

scientific article

Loss of syntaxin 3 causes variant microvillus inclusion disease

scientific article

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

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

scientific article

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

scientific article published on 27 September 2010

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

scientific article published on 06 July 2016

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

scientific article published on 3 December 2014

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

scientific article published on 29 December 2012

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

scientific article

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

scientific article published on 19 November 2013

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

scientific article

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Mutation analysis in glycogen storage disease type 1 non-a

article

Mutation of POC1B in a severe syndromic retinal ciliopathy

scientific article

Mutation spectrum of type I glycogen storage disease in Hungary.

scientific article

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN

scientific journal article

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

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

scientific article

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

scientific article

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

scientific article

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

scientific article published on 01 November 2004

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

scientific article (publication date: 4 September 2014)

Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

article

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

scientific article published on 17 June 2020

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

scientific article published in February 2005

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

scientific article published on 8 June 2005

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

scientific article

PORCN mutations in focal dermal hypoplasia: coping with lethality

scientific article published in May 2009

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis

scientific article

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria

scientific article published on 3 July 2002

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

scientific article

Refinement of the GINGF3 locus for hereditary gingival fibromatosis

scientific article

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

scientific article

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

scientific article

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

scientific article

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

scientific article published in March 2001

Significance of Molecular Testing for Congenital Chloride Diarrhea

Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

scientific article published in June 2001

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

scientific article published on June 2008

Systematic screening and treatment evaluation of hereditary neck paragangliomas

scientific article published in September 2007

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

scientific article

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

scientific article

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

scientific article (publication date: August 2003)

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

scientific article (publication date: February 2003)

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations

scientific article

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity

scientific article published in January 1999

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

scientific article published on February 2008

Van-der-Woude-Syndrom

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

scientific article published on 18 August 2013

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

scientific article published on 26 April 2013

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

scientific article published on 17 July 2001

List of works by Andreas Janecke

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype

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

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

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure

A new, X-linked endothelial corneal dystrophy

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

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

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

Assessment of energy expenditure in metabolic disorders ⬇️

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

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

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

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

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

Circadian variation on oxygen consumption in preterm infants

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

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

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

Coexistence ofKCNV2associated cone dystrophy with supernormal rod electroretinogram andMFRPrelated oculopathy in a Turkish family

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

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

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

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

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

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

Eculizumab for Atypical Hemolytic–Uremic Syndrome

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

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

Expanding CEP290 mutational spectrum in ciliopathies

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

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

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

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

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

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

GJB2 mutations and degree of hearing loss: a multicenter study

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

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

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

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

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

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

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

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

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

Histopathological and neuroradiological features of Usher syndrome type II.

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

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

Hypochloremic metabolic alkalosis and failure to thrive: answer

Hypochloremic metabolic alkalosis and failure to thrive: question

Hypoplasia of deep cerebellar nuclei in joubert syndrome

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

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria

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

Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants

Inherited ichthyoses/generalized Mendelian disorders of cornification

Joubert-like syndrome unlinked to known candidate loci

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

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

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

Loss of syntaxin 3 causes variant microvillus inclusion disease

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

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

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

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

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

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Mutation analysis in glycogen storage disease type 1 non-a

Mutation of POC1B in a severe syndromic retinal ciliopathy