H. Reutter

S. Bauer, V. Tasic, S. Sanna-Cherchi, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.

T. Eggermann, H. Reutter, M. Elbracht, 2013, The Journal of pediatrics.

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

U. Gembruch, H. Reutter, A. Müller, 2016, Journal of Medical Case Reports.

The Role of De Novo Variants in Formation of Human Anorectal Malformations

I. V. van Rooij, H. Reutter, G. Dworschak, 2021, Genes.

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

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

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

F. Holz, H. Reutter, A. Müller, 2020, Journal of pediatric surgery.

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

H. Reutter, M. Ludwig, B. Kazmierczak, 2011, Cytogenetic and Genome Research.

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

F. Martínez-Murillo, L. Qi, L. Wittler, 2011, International journal of molecular medicine.

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

U. Gembruch, H. Reutter, M. Ludwig, 2016, Journal of Neurodevelopmental Disorders.

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2

H. Engels, H. Reutter, M. Ludwig, 2017, Clinical genetics.

Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature

M. Nöthen, H. Reutter, P. Bartmann, 2010, Fetal Diagnosis and Therapy.

Scimitar syndrome in a case with VACTERL association

H. Reutter, U. Herberg, Christian J Fritz, 2014, Cardiology in the Young.

Cantú syndrome is caused by mutations in ABCC9.

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, American journal of human genetics.

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

K. Cremer, A. Zink, H. Engels, 2016, Birth defects research. Part A, Clinical and molecular teratology.

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

Kristen M. Laricchia, Thomas M. Kitzler, Richard S. Lee, 2018, Journal of the American Society of Nephrology : JASN.

Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

Weining Lu, R. Lifton, V. Tasic, 2015, Human Genetics.

The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia

H. Reutter, Charlotte Bendixen, 2021, Genes.

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

D. Tibboel, R. Rottier, A. de Klein, 2022, Frontiers in Pediatrics.

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

A. Hoischen, P. Propping, H. Engels, 2002, American journal of medical genetics.

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

M. Nöthen, J. Gearhart, S. Boyadjiev, 2011, The Journal of pediatrics.

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

M. Nöthen, S. Moebus, P. Hoffmann, 2013, Birth defects research. Part A, Clinical and molecular teratology.

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

M. Mattheisen, L. Qi, J. Gearhart, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Genome-wide linkage scan for bladder exstrophy-epispadias complex.

N. Hübner, F. Rüschendorf, K. Saar, 2009, Birth defects research. Part A, Clinical and molecular teratology.

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.

Richard S. Lee, S. Mane, S. Ellard, 2019, American journal of human genetics.

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

B. Hoppe, O. Dewald, H. Reutter, 2018, Journal of Medical Case Reports.

A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL

M. Born, V. Tasic, M. Refke, 2012, Klinische Pädiatrie.

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

I. V. van Rooij, H. Brunner, R. Hofstra, 2014, Birth defects research. Part A, Clinical and molecular teratology.

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

K. Jablonka, N. Zwink, E. Jenetzky, 2012, Pediatric Surgery International.

Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

A. Buness, S. Heilmann-Heimbach, M. Lacher, 2022, European Journal of Human Genetics.

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Friedhelm Hildebrandt, V. Tasic, F. Hildebrandt, 2014, Journal of the American Society of Nephrology : JASN.

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

M. Lacher, J. Schumacher, B. Ure, 2017, European Journal of Pediatric Surgery.

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

M. Nöthen, B. Herrmann, L. Wittler, 2014, Birth defects research. Part A, Clinical and molecular teratology.

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

M. Nöthen, S. Moebus, P. Hoffmann, 2010, European journal of medical genetics.

[Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)].

H. Reutter, M. Ludwig, B. Utsch, 2005, Der Urologe. Ausg. A.

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

T. Wienker, M. Krimmel, M. Mattheisen, 2009, American journal of medical genetics. Part A.

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

M. Nöthen, M. Knapp, Markus Martini, 2008, Journal of Human Genetics.

Premature birth associated with a favorable course in gestational alloimmune liver disease (GALD): A case report

J. Jüngert, H. Reutter, A. Hoerning, 2023, Frontiers in Pediatrics.

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

N. Zwink, E. Jenetzky, H. Reutter, 2011, Pediatric Surgery International.

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

Wei Cheng, W. Newman, C. Khor, 2017, Scientific Reports.

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

D. Rader, G. Rubboli, R. Møller, 2020, Brain : a journal of neurology.

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

A. Becker, B. Herrmann, B. Odermatt, 2018, Birth defects research.

Circulating microRNAs are associated with Pulmonary Hypertension and Development of Chronic Lung Disease in Congenital Diaphragmatic Hernia

S. Heilmann-Heimbach, H. Reutter, S. Holdenrieder, 2018, Scientific Reports.

Abstracts of the 51st Annual ESPN Meeting, Antalya, October 2018

Carmine, Pape, W. Newman, 2018, Pediatric nephrology (Berlin, West).

Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations

P. Boor, A. Woolf, P. Winyard, 2022, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

F. Recker, H. Reutter, M. Ludwig, 2013, Journal of Pediatric Genetics.

Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax

B. Strizek, H. Reutter, K. Ludwig, 2022, American journal of medical genetics. Part A.

Practice of dilatation after surgical correction in anorectal malformations

N. Zwink, E. Jenetzky, H. Reutter, 2012, Pediatric Surgery International.

A Quality Assessment of the ARM-Net Registry Design and Data Collection.

I. V. van Rooij, C. Grano, M. Lacher, 2023, Journal of pediatric surgery.

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

J. Huber, N. Zwink, E. Jenetzky, 2018, Front. Pediatr..

[Transition of adolescents with the exstrophy-epispadias complex to adult medicine: influence of long-term outcome results on management].

H. Reutter, W. Rösch, A. Ebert, 2012, Klinische Padiatrie.

A Prevalence Estimation of Exstrophy and Epispadias in Germany From Public Health Insurance Data

N. Zwink, E. Jenetzky, H. Reutter, 2021, Frontiers in Pediatrics.

Treatment Strategies and Outcome of the Exstrophy–Epispadias Complex in Germany: Data From the German CURE-Net

M. Lacher, N. Zwink, E. Jenetzky, 2020, Frontiers in Pediatrics.

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

H. Reutter, W. Rösch, M. Ludwig, 2009, European Journal of Pediatrics.

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?

R. Betz, H. Reutter, M. Ludwig, 2006, European Journal of Pediatrics.

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

M. Nöthen, J. Little, S. Heilmann-Heimbach, 2018, Birth defects research.

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

M. Nöthen, C. Lange, Philipp Wahle, 2012, Birth defects research. Part A, Clinical and molecular teratology.

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

H. Reutter, A. Müller, W. Merz, 2018, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

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

H. Reutter, W. Rösch, A. Ebert, 2011, Archives of Gynecology and Obstetrics.

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

M. Nöthen, O. el-Maarri, F. Hildebrandt, 2015, Human mutation.

Isolated bladder exstrophy in prenatal diagnosis

M. Mallmann, U. Gembruch, H. Reutter, 2019, Archives of Gynecology and Obstetrics.

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

M. Nöthen, M. Mattheisen, J. Schumacher, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Modelling human lower urinary tract malformations in zebrafish

B. Odermatt, A. Woolf, H. Reutter, 2023, Molecular and Cellular Pediatrics.

Clinical and echocardiographic risk factors for extubation failure in infants with congenital diaphragmatic hernia

H. Reutter, F. Kipfmueller, C. Berg, 2018, Paediatric anaesthesia.

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

Thomas M. Kitzler, H. Rehm, Shrikant Mane, 2021, American journal of medical genetics. Part A.

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

Holger Fröhlich, Glen Kristiansen, G. Kristiansen, 2019, Cancer genetics.

A phenotype map for 14q32.3 terminal deletions

A. Hoischen, R. Hennekam, S. Rudnik-Schöneborn, 2012, American journal of medical genetics. Part A.

Isolated cytokine‐enriched pericardial effusion: A likely key feature for Aymé‐Gripp syndrome

U. Grasshoff, U. Gembruch, H. Sabir, 2021, American Journal of Medical Genetics. Part A.

Evaluating the Use of Neonatal Colonization Screening for Empiric Antibiotic Therapy of Sepsis and Pneumonia

F. Fahlbusch, J. Held, H. Reutter, 2023, Antibiotics.

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

A. Hofmann, U. Gembruch, H. Reutter, 2016, Journal of Neurodevelopmental Disorders.

Fulminant Pneumococcal Meningoencephalitis and Widespread Cerebritis with Multiple Infarctions Caused by Non–PCV13-Serotype 23A in a 12-Month-Old Girl with Down Syndrome

M. Born, G. Hischebeth, H. Reutter, 2015, Journal of Pediatric Infectious Diseases.

Mutations in CRLF1 cause familial achalasia

A. Busch, I. Buers, I. Kurth, 2017, Clinical genetics.

Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)

M. Zaniew, S. Herms, M. Szczepańska, 2021, Genes.

Lessons Learned from CNV Analysis of Major Birth Defects

H. Reutter, G. Dworschak, A. Hilger, 2020, International journal of molecular sciences.

Circulating microRNAs are associated with Pulmonary Hypertension and Development of Chronic Lung Disease in Congenital Diaphragmatic Hernia

S. Heilmann-Heimbach, H. Reutter, S. Holdenrieder, 2018, Scientific Reports.

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

M. Mallmann, U. Gembruch, H. Reutter, 2018, Fetal Diagnosis and Therapy.

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

H. Thiele, N. Zwink, E. Jenetzky, 2023, Biomolecules.

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.

S. Rudnik-Schöneborn, T. Eggermann, U. Gembruch, 2012, European journal of medical genetics.

Multisystem Inflammatory Syndrome in Children” (MIS-C) after COVID-19 infection in the Metropolitan Area Nuremberg-Erlangen with a case of MIS-C like disease following SARS-CoV-2 mRNA vaccination

G. Wallukat, A. Agaimy, C. Fusch, 2023, Zeitschrift für Geburtshilfe und Neonatologie.

Etiological concepts of gastrointestinal malformations/atresias

H. Reutter, 2023, Monatsschrift Kinderheilkunde.

Umbilical venous catheter- and peripherally inserted central catheter-associated complications in preterm infants with birth weight < 1250 g

A. Simon, S. Wagenpfeil, A. Stein, 2022, Wiener Medizinische Wochenschrift.

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.

H. Reutter, M. Ludwig, A. Hilger, 2018, Asia Pacific journal of clinical nutrition.

Blood pressure and kidney function in neonates and young infants with intrauterine growth restriction

H. Reutter, A. Hilger, E. A. Alsat, 2022, Pediatric Nephrology.

Family-Based Association Study of the MTHFR Polymorphism C677T in Patients with Nonsyndromic Cleft Lip and Palate from Central Europe

S. Bergé, M. Knapp, M. Mende, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

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.

Elisabeth Mangold, Michael Knapp, Per Hoffmann, 2010, Birth defects research. Part A, Clinical and molecular teratology.

[Duplication of the alimentary tract with ectopic gastric mucosa as cause of lower abdominal pain].

M. Born, H. Reutter, 2006, Zeitschrift fur Gastroenterologie.

The Exstrophy-epispadias complex

H. Reutter, W. Rösch, A. Ebert, 2009, Orphanet Journal of Rare Diseases.

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

P. Hoffmann, S. Aretz, A. Zink, 2011, American journal of medical genetics. Part A.

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

S. Heilmann-Heimbach, M. Lacher, F. Degenhardt, 2017, Birth defects research.

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

H. Reutter, 2023, European Journal of Human Genetics.