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List of works by Heiko Reutter

A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review

scientific article published on 17 April 2018

A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate

scientific article published on 01 January 2007

A phenotype map for 14q32.3 terminal deletions

scientific article published on 24 February 2012

An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomali

scientific article published on 12 December 2013

An examination of the factors affecting intestinal wall integrity in newborns at birth

scientific article published on 23 January 2017

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome

scientific article published on 10 May 2013

Antioxidative status and oxidative stress in the fetal circulation at birth: the effects of time of delivery and presence of labor

scientific article

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

scientific article published on 12 June 2017

Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions

scientific article published on 17 December 2015

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

scientific article published on 15 April 2016

Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study

scientific article

Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study

scientific article

Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study

scientific article published on 01 August 2018

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature

scientific article

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

scientific article published on 30 May 2021

Bias in patient series with VACTERL association

scientific article

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

scientific article published on 01 October 2006

Bladder exstrophy-epispadias complex

scientific article published on June 2009

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

scientific article published on 8 September 2014

Bladder exstrophy-epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients

scientific article published on 01 January 2006

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

scientific article published on 07 November 2019

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

scientific article

CNV analysis in monozygotic twin pairs discordant for urorectal malformations

scientific article published on 9 May 2013

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex

scientific article

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

scientific article

Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association

scientific article published on 31 May 2019

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

article

Clinical geneticists' views of VACTERL/VATER association ⬇️

scientific article published on November 19, 2012

Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology

scientific article published on 01 November 2007

Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders ⬇️

scientific article published on 01 July 2013

Congenital diaphragmatic hernia in a case of Cat eye syndrome.

scientific article published on 23 July 2018

Congenital intrahepatic portocaval shunts and hypoglycemia due to secondary hyperinsulinism: a case report and review of the literature

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

scientific article

DNA Methylation and Bladder Cancer: Where Genotype does not Predict Phenotype

scientific article published on 01 January 2020

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.

scientific article

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis ofEFNB2in patients with anorectal malformations

article

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

article published in 2011

De novo microduplication at 22q11.21 in a patient with VACTERL association

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

scientific article published on 03 April 2013

Early postnatal echocardiographic assessment of pulmonary blood flow in newborns with congenital diaphragmatic hernia

scientific article published on 25 July 2017

Early prenatal diagnosis of the OEIS complex with different appearance in early compared with late pregnancy before spontaneous rupture of the cloacal membrane

scientific article published on 26 May 2014

Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias

scientific article published on July 2010

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

scientific article published on 13 December 2017

Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup

scientific article published on 6 January 2017

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate

scientific article published on 24 August 2012

Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population

scientific article published on 31 December 2013

Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net

scientific article published on 13 July 2016

Evaluation of two commercially available ELISA kits for the determination of melatonin concentrations in amniotic fluid throughout pregnancy

scientific article published on 10 May 2016

Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene

scientific article published on 25 March 2014

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family

scientific article published in September 2010

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

scientific article

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene

scientific article published on 01 February 2018

Expanding the knowledge on development of CAKUT: molecular genetics and beyond

scientific article published on 01 October 2019

Extracorporeal membrane oxygenation support in a newborn with lower urinary tract obstruction and pulmonary hypoplasia: a case report

scientific article published on 17 July 2018

Familial occurrence of the VATER/VACTERL association

scientific article published on 16 March 2012

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report

scientific article published on 30 March 2016

Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe

scientific article published in May 2008

Family-based association study of theMTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex

article published in 2006

First results of a European multi-center registry of patients with anorectal malformations.

scientific article

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

scientific article

Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate

scientific article published in April 2009

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25.

scientific article

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

scientific article published on February 2016

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization

scientific article

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy

scientific article

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

scientific article

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

scientific article

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex

scientific article published on 22 March 2011

Genome-wide linkage scan for bladder exstrophy-epispadias complex

scientific article published on February 2009

Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities

scientific article published on 24 September 2014

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

scientific journal article

German Network for Congenital Uro-REctal Malformations: first evaluation and interpretation of postoperative urological complications in anorectal malformations ⬇️

scientific article published on October 1, 2011

HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum

scientific article published on 18 March 2019

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

scientific article published on 8 August 2014

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

scientific article published on 05 June 2020

IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate

scientific article published in December 2009

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

scientific article published on 08 February 2017

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation

scientific article published on 8 January 2016

Inheritance of the VATER/VACTERL association

scientific article

Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature

scientific article published on 16 February 2010

Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca

scientific article published on 28 June 2008

Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene.

scientific article

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

scientific article published on 29 January 2013

Isolated bladder exstrophy in prenatal diagnosis

scientific article published on 21 May 2019

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

scientific article

Lessons Learned from CNV Analysis of Major Birth Defects

scientific article published on 03 November 2020

Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers

scientific article published in January 2018

MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?

scientific article published on 07 April 2006

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

scientific article published on 01 August 2019

Medical predictors of psychological anxieties in VATER patients ⬇️

scientific article published on October 1, 2011

Melatonin Concentrations and Antioxidative Capacity of Human Breast Milk According to Gestational Age and the Time of Day.

scientific article published on 27 April 2016

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome

scientific article published on 01 December 2007

Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias

scientific article published on 2 July 2012

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

scientific article published on November 2011

Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance

scientific article published on 01 March 2008

Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse

scientific article published on 13 March 2015

Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany

article

Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder

scientific article published on 30 January 2012

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations

scientific article published on 20 May 2014

Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample

scientific article published on 02 March 2018

Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases

scientific article

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

PKD1L1 Is Involved in Congenital Chylothorax

scientific article published in 2024

PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?

scientific article published on 25 May 2016

Parental risk factors of anorectal malformations: Analysis with a regional population-based control group

scientific article published on 21 December 2015

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe

scientific article

Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature

scientific article published on 16 October 2008

Prediction of ECMO and Mortality in Neonates with Congenital Diaphragmatic Hernia Using the SNAP-II Score

scientific article published on 30 September 2019

Pregnancy management in women within the bladder–exstrophy–epispadias complex (BEEC) after continent urinary diversion ⬇️

scientific article published on June 23, 2011

Prenatal Diagnosis of Enterolithiasis in 20 Cases

scientific article published on 15 March 2019

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases

scientific article published on 23 February 2018

Prenatal diagnosis of covered cloacal exstrophy

scientific article

Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity

scientific article published on 11 October 2011

Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients

scientific article published on 6 January 2017

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

scientific article published on 01 May 2019

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

scientific article

Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate

scientific article published on 18 October 2012

Retinal Findings in Neonates with Congenital Diaphragmatic Hernia and Extracorporeal Membrane Oxygenation

scientific article published on 25 August 2019

Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy

scientific article published on 21 April 2017

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

scientific article published on 07 August 2020

SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients

article

Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association s

article

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

scientific article published on 22 March 2016

Sexual Function and Quality of Life in Adult Male Individuals with Exstrophy-Epispadias Complex-a Survey of the German CURE-Network

scientific article

Sexual function in adult patients with classic bladder exstrophy: A multicenter study

scientific article published on 12 March 2015

Successful assisted reproduction in adult males with bladder extrophy-epispadias complex

scientific article published on 01 June 2007

TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate

scientific article published on 15 May 2008

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

scientific article

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency

scientific article published on 26 October 2017

Testicular Tumors in Patients with Exstrophy-Epispadias Complex ⬇️

scientific article published on August 18, 2012

The Challenges of the European Anorectal Malformations-Net Registry

scientific article

The exstrophy-epispadias complex

scientific article published on 30 October 2009

Towards a Central Role of in the Bladder Exstrophy⁻Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling

article

Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent

scientific article

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype

scientific article published on 08 February 2016

Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies ⬇️

scientific article published on August 1, 2012

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

scientific article published on 23 June 2015

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

scientific article published on 27 September 2016

Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?

scientific article published on 06 December 2017

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

scientific article published on 24 August 2018

Whole-Exome Sequencing in Nine Monozygotic Discordant Twins

scientific article published on 18 December 2015

p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue.

scientific article

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