2024

Carvalho C, Morandi A, Samuk I, Gine C, Gorter R, Martinez-Urrutia MJ, Vilanova-Sánchez A.  Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis-A Systematic Review of the Literature and the ARM-Net Consortium Experience. Eur J Pediatr Surg. 2024 Feb 12.

Hageman IC, Midrio P, van der Steeg HJJ, Jenetzky E, Iacobelli BD, Morandi A, Sloots CEJ, Schmiedeke E, Broens PMA, Fascetti Leon F, Çavuşoğlu YH, Gorter RR, Trajanovska M, King SK, Aminoff D, Schwarzer N, Haanen M, de Blaauw I, van Rooij IALM; ARM-Net Consortium.  The European Anorectal Malformation Network (ARMNet) patient registry: 10-year review of clinical and surgical characteristics. Br J Surg. 2024 Jan 31;111(2):znae019.

van der Steeg HJJ, Luijten JCHBM, Fascetti-Leon F, Miserez M, Samuk I, Stenström P, de Wall LL, de Blaauw I, van Rooij IALM; ARM-Net Consortium. 
High-grade Vesicoureteral Reflux in Patients With Anorectal Malformation From the ARM-Net Registry: Is Our Screening Sufficient? J Pediatr Surg. 2024 Jan 19:S0022-3468(24)00015-0.

2023

de Beaufort CMC, Gorter RR, Iacobelli BD, Midrio P, Sloots CEJ, Samuk I, van Rooij IALM, Lisi G; ARM-Net Consortium.   Rectal atresia and rectal stenosis: the ARMNet Consortium experience. Pediatr Surg Int. 2023 Jul 28;39(1):242.

Hageman IC, van der Steeg HJJ, Jenetzky E, Trajanovska M, King SK, de Blaauw I, van Rooij IALM; ARM-Net Consortium.  A Quality Assessment of the ARMNet Registry Design and Data Collection. J Pediatr Surg. 2023 Oct;58(10):1921-1928.

2022

Violani C, Grano C, Fernandes M, Pini Prato A, Feitz WFJ, Wijnen R, Battye M, Schwarzer N, Lemli A, Cavalieri D, Aminoff D.  The transition of care for patients with anorectal malformations and Hirschsprung disease: a European survey. Eur J Pediatr Surg 2022 Jul 13.

Morandi A, Fanjul M, Iacobelli BD, Samuk I, Aminoff D, Midrio P, de Blaauw I, Schmiedeke E, Pini Prato A, Feitz W, van der Steeg HJJ, Minoli DG, Sloots CEJ, Fascetti-Leon F, Makedonsky I, Garcia A, Stenström P.  Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study. Eur J Pediatr Surg 2022 Jan 24.

Amerstorfer EE, Schmiedeke E, Samuk I, Sloots CEJ, van Rooij IALM, Jenetzky E, Midrio P, and ARM-Net Consortium.  Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences – The ARM-Net Consortium Consensus. Children 2022, 9(6), 831.

van der Steeg HJJ, van Rooij IALM, Iacobelli BD, Sloots CEJ, Morandi A, Broens PMA, Makedonsky I, Leon FF, Schmiedeke E, Vázquez AG, Miserez M, Lisi G, Midrio P, Amerstorfer EE, Fanjul M, Ludwiczek J, Stenström P, van der Steeg AFW, de Blaauw I; On-behalf-of-the-ARM-Net-Consortium.  Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study. J Pediatr Surg. 2022 Feb 22:S0022-3468(22)00180-4.

Lacher M, Barthlen W, Eckoldt F, Fitze G, Fuchs J, Hosie S, Kaiser MM, Meyer T, Muensterer OJ, Reinshagen K, Rothe K, Seitz G, Stuhldreier G, Troebs RB, Ure B, von Schweinitz D, Wessel L, Wünsch L, Rolle U.  Operative Volume of Newborn Surgery in German University Hospitals: High Volume Versus Low Volume Centers. Eur J Pediatr Surg Jan 13,2022.

2021

Schmiedeke E, Ohlms J, Faiss M, Stamatopoulos E, Schwarzer N, Widenmann-Grolig A, Aminoff D, Haanen M, Cavalieri D, Jenetzky E.  Objective Professionals, Subjective Patients? Unbiased Thinking Facilitates Better, Multidimensional Treatment. Eur J Pedatr Surg 2021; 31(5):452-453.

Marcelis CLM, Dworschak GC, de Blaauw I, van Rooij IALM.  Genetic Counseling and Diagnostics in Anorectal Malformation. Eur J Pediatr Surg 2021;31(6):482-491.

Dworschak GC, van Rooij IALM, Reutter HM.  The Role of De Novo Variants in Formation of Human Anorectal Malformations. Genes 2021;12(9):1298.  

2020

Midrio P, van Rooij IALM, Brisighelli G, Garcia A, Fanjul M, Broens P, Iacobelli BD, Giné C, Lisi G, Sloots CEJ, Fascetti Leon F, Morandi A, van der Steeg H, Giuliani S, Grasshoff-Derr S, Lacher M, de Blaauw I, Jenetzky E.  Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey. Front Pediatr. 2020 Sep 18;8:571. 

Samuk I, Amerstorfer EE, Fanjul M, Iacobelli BD, Lisi G, Midrio P, Morandi A, Schmiedeke E, Stenstrom P, Sleeboom C.  Perineal Groove: An Anorectal Malformation Network, Consortium Study. J Pediatr. 2020;222:207-212.

van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N,Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peňa A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A.  A Genetics-first approach revealed monogenic disorders in patients with ARM and VACTERL anomalies. Front Pediatr 2020;8:310.

Ryan G, Vyrostek S, Aminoff D, Booth K, Driesbach S, Fisher M, Gerberick J, Haanen M, Mullins C, Parker L, Schwarzer N.  Importance of education and the role of the patient and family in the care of anorectal malformations. Semin Pediatr Surg. 2020;29(6):150990.

King SK, Krois W, Lacher M, Saadai P, Armon Y, Midrio P.  Optimal management of the newborn with an anorectal malformation and evaluation of their continence potential. Semin Pediatr Surg. 2020;29(6):150996.

Wester T, Giuliani S, Lacher M.  Special Aspects of Anorectal Pediatric Surgery. Eur J Pediatr Surg. 2020 Oct;30(5):385.

Martynov I, Gosemann JH, Hofmann AD, Kuebler JF, Madadi-Sanjani O, Ure BM, Lacher M.  Vacuum-assisted closure (VAC) prevents wound dehiscence following posterior sagittal anorectoplasty (PSARP): An exploratory case-control study. J Pediatr Surg. 2021;56(4):745-749.

Feng X, Lacher M, Quitmann J, Witt S, Witvliet MJ, Mayer S.  Health-Related Quality of Life and Psychosocial Morbidity in Anorectal Malformation and Hirschsprung’s Disease. Eur J Pediatr Surg. 2020 Jun;30(3):279-286.

van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lanzoni M, Latos-Bielenska A, Luyt K, O’Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Roeleveld N, Bergman JEH.  Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res 2020;87(3):541-549. 

2019

Schmiedeke E, Schaefer S, Aminoff D, Schwarzer N, Jenetzky E.  Non-financial conflicts of interest: contribution to a surgical dilemma by the European Reference Networks for Rare Diseases. Pediatr Surg Int. 2019;35(9):999-1004.   

Eleuteri S, Aminoff D, Lucidi F, Violani C, Grano C.  Sexual well-being in adolescent and young adults born with arm: the perspective of the patients. Pediatr Surg Int 2019; 35(9): 945-951.  

Amerstorfer EE, Grano C, Verhaak C, García-Vasquez A, Miserez M, Radleff-Schlimme A, Schwarzer N, Haanen M, de Blaauw I, Jenetzky E, van der Steeg A, van Rooij IALM; ARM-Net consortium.  What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members’ opinion. Pediatr Surg Int. 2019; 35(9):935-943.

van der Steeg HJJ, van Rooij IALM, Iacobelli BD, Sloots CEJ, Leva E, Broens P, Fascetti Leon F, Makedonsky I, Schmiedeke E, García Vázquez A, Midrio P, Lisi G, Amerstorfer E, Miserez M, Fanjul M, Ludwiczek J, Stenström P, Giuliani S, van der Steeg AFW, de Blaauw I; ARM-Net consortium. The impact of perioperative care on complications and short term outcome in ARM type rectovestibular fistula: An ARM-Net consortiumstudy.J Pediatr Surg 2019; 54(8):1595-1600.  

van de Putte R, de Blaauw I, Boenink R, Reijers MHE, Broens PMA, Sloots CEJ, van Heijst AFJ, van Geder MMHJ, Roeleveld N, van Rooij IALM. Uncontrolled maternal chronic respiratory diseases in pregnancy: a new potential risk factor suggested to be associated with anorectal malformations in offspring. Birth Defects Res 2019;111:62-69. 

 2018

Grano C, Fernandes M, Bucci S, Aminoff D, Lucidi F, & Violani C.  Self-efficacy beliefs, faecal incontincence, and health-related quality of life in patients born with anorectal malformations. .Colorectal Disease 2018; 8(20): 711-718.

 2017

Fanjul M, Samuk I, Bagolan P, Leva E, Sloots C, Giné C, Aminoff D, Midrio P; ARM-Net Consortium.  Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium. PediatrSurg Int 2017;33(8):849-54.

Giuliani S, Grano C, Aminoff D, Schwarzer N., Van De Vorle M, Cretolle C, Haanen M, Brisighelli G, Marzheuser S, Connor M, ARM-net Consortium.  Transition of care in patients with anorectal malformations: Consensus by the ARM-net consortium. Journal of pediatric surgery2017;52(11):1866-72. 

van de Putte R, Wijers CHW, de Blaauw I, Marcelis CL, Sloots CE, Brooks AS, Broens PM, Roeleveld N, van der Zanden LFM, van Rooij IALM.  Previous miscarriages and GLI2 are associated with anorectal malformations in offspring. Hum Reprod2017;32(2):299-306

 2016

van der Steeg HJ, Botden SM, Sloots CE, van der Steeg AF, Broens PM, van Heurn LW, Travassos DV, van Rooij IALM, de Blaauw I.  Outcome in anorectal malformation type rectovesical fistula: A nationwide cohort study in the Netherlands. J Pediatr Surg 2016;51(8): 1229–33.

Giuliani S, Decker E, Leva E, Riccipetitoni G, Bagolan P.  Long term follow-up and transition of care in anorectal malformations: An international survey. J Pediatr Surg 2016;51(9):1450-7.

Zwink N, Rißmann A, Pötzsch S, Reutter H, Jenetzky E, CURE-Net Consortium.  Parental risk factors of anorectal malformations: analysis with a regional population-based control group. Birth Defects Res A Clin Mol Teratol 2016;106:133-41.

Midrio P, Mosiello G, Ausili E, Gamba P, Marte A, Lombardi L, Iacobelli BD, Caponcelli E, Marrello S, Meroni M, Brisighelli G, Leva E, Rendeli C.  Peristeen(®) transanal irrigation in paediatric patients with anorectal malformations and spinal cord lesions: a multicentre Italian study. Colorectal Dis 2016;18(1):86-93.

Rigueros Springford L, Connor MJ, Jones K, Kapetanakis VV, Giuliani S.  Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review. Dis Colon Rectum 2016;59(6):570-80.

van Rooij IALM, van der Zanden LFM, Bongers EMHF, Renkema KY, Wijers CHW, Thonissen M, Dokter EMJ, Marcelis CLM, de Blaauw I, Wijnen MHWA, Hoogerbrugge PM, Bokkerink JPM, Schreuder MF, Koster-Kamphuis L, Cornelissen EAM, Kapusta L, van Heijst AFJ, Liem KD, de Gier RPE, Kuijpers-Jagtman AM, Admiraal RJC, Bergé SJ, van der Biezen JJ, Verdonck A, Vander Poorten V, Hens G, Roosenboom J, Lilien MR, de Jong TP, Broens P, Wijnen R, Brooks A, Franke B, Brunner HG, Carels CEL, Knoers NVAM, Feitz WFJ, Roeleveld N.  AGORA, a data- and biobank for birth defects and childhood cancer. Birth Defects Res A Clin Mol Teratol 2016;106(8):675-684.

Grano C, Fernandes M, Bucci S, Aminoff D, Lucidi F, & Violani C.  The role of coping strategies on health-related quality of life in adults with anorectal malformations. Pediatric Surgery International 2016;32(8): 759-65.

Reutter H, Hilger AC, Hildebrandt F, Ludwig M.  Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype. Pediatr Nephrol 2016;31(11):2025-33.

Bagci S, Brosens E, Tibboel D, De Klein A, Ijsselstijn H, Wijers CHW, Roeleveld N, de Blaauw I, Broens PM, van Rooij IALM, Hölscher A, Boemers TM, Pauly M, Münsterer OJ, Schmiedeke E, Schäfer M, Ure BE, Lacher M, Choinitzki V, Schumacher J, Zwink N, Jenetzky E, Katzer D, Arand J, Bartmann P, Reutter H.  More than Fetal Urine: Enteral Uptake of Amniotic Fluid as a Major Predictor for Fetal Growth During Late Gestation. Eur J Pediatr 2016;175:825-31.

2015

Jenetzky E, van Rooij IALM, Aminoff D, Schwarzer N, Reutter H, Schmiedeke E, Midrio P, de Blaauw I.  The challenges of the European Anorectal Malformations-Net registry. Eur J Pediatr Surg 2015 Dec;25(6):481-7.

Schmiedeke E, de Blaauw I, Lacher M, Grasshoff-Derr S, Garcia-Vazquez A, Giuliani S, Midrio P, Gamba P, Iacobelli B, Bagolan P, Brisighelli G, Leva E, Cretolle C, Sarnacki S, Broens P, Sloots C, van Rooij I, Schwarzer N, Aminoff D, Haanen M, Jenetzky E.  Towards the perfect ARM center: the European Union’s criteria for centers of expertise and their implementation in the member states. A report from the ARM-Net. Pediatr Surg Int. 2015;31(8):741-5.

Hofmeester MJ, Draaisma JMTh, Versteegh HP, Huibregtse ECP, van Rooij IALM, de Blaauw I.  Perioperative nutritional management in congenital perineal and vestibular fistulas: A Systematic Review. Eur J Pediatr Surg 2015;25(5):389-96.

Van der Steeg HJJ, Schmiedeke E, Bagolan P, Broens P, Demirogullari B, Garcia-Vazquez A, Grasshoff-Derr S, Lacher M, Leva E, Makedonsky I, Sloots CEJ, Schwarzer N, Aminoff D, Schipper M, Jenetzky E, van Rooij IALM, Giuliani S, Crétolle C, Holland Cunz S, Midrio P, de Blaauw I.  European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations. Tech Coloproctol 2015;19(3):181-5.

Grano C, Bucci S, Aminoff D, Lucidi F, Violani C.  Transition from childhood to adolescence: Quality of life changes 6 years later in patients born with anorectal malformations. Pediatr Surg Int 2015;31:735-40.

Wijers CHW, van Rooij IALM, Rassouli R, Wijnen MH, Broens PMA, Sloots CEJ, Brunner HG, de Blaauw I, Roeleveld N.  Parental subfertility, fertility treatment and the risk of congenital anorectal malformations. Epidemiology 2015;26(2):169-76.

Van de Putte R, Wijers CHW, de Blaauw I, Feitz WFJ, Marcelis CLM, Hakobjan M, Sloots CEJ, van Bever Y, Brunner HG, Roeleveld N, van Rooij IALM, van der Zanden LFM.  Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias. Eur J Pediatr 2015;174(5):583-7.

Gurung N, Große G, Draaken M, Hilger A, Nauman N, Müller A, Gembruch U, Merz W, Reutter H, Ludwig M.  Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth’s Short Tail mouse. Mol Med Rep 2015;12:1579-83.

Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang D-Y, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F.  Targeted re-sequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association. Hum Mutat 2015;36:1150-4.

Dworschak GC, Draaken M, Hilger AC, Schramm C, Bartels E, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Lacher M, Jenetzky E, Zwink N, Schmidt D, Nöthen MM, Ludwig M, Reutter H.  Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Res A Clin Mol Teratol 2015;103(4):235-42.

2014

Wijers CHW, van Rooij IALM, Marcelis CLM, Brunner HG, de Blaauw I, Roeleveld N.  Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review. Birth Defects Res C Embryo Today 2014;102(4):382-400.

Reutter H, Gurung N, Ludwig M.  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. Am J Med Genet A 2014;164A:1611-3.

Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N.  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 anomalies) association. J Pediatr 2014;164:451-7.

Zeidler C, Woelfle J, Draaken M, Mughal SS, Große G, Hilger AC, Dworschak GC, Boemers TM, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Schäfer M, Bartels E, Keppler K, Palta M, Leonhardt J, Kujath C, Rißmann A, Nöthen MM, Reutter H, Ludwig M.  Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth Defects Res A Clin Mol Teratol 2014; 100(10): 750-9.

Huibregtse EC, Draaisma JM, Hofmeester MJ, Kluivers K, van Rooij IALM, de Blaauw I.  The influence of anorectal malformations on fertility: a systematic review. Pediatr Surg Int 2014;30:773-81.

Grano C, Bucci S, Aminoff D, Lucidi F, & Violani C.  Feelings of depression in people with ARM: The role of critical incidents and perceived difficulties in close and sexual relationships. Pediatric Surgery International 2014;30(8):823-828.

Wijers CHW, de Blaauw I, Zwink N, Draaken M, van der Zanden LFM, Brunner HG, Brooks AS, Hofstra RM, Sloots CEJ, Broens PMA, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CLM, Roeleveld N, van Rooij IALM.  No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations. Birth Defects Res A Clin Mol Teratol 2014;100(6):483-92.

Giuliani S, Anselmo DM.  Transitioning Pediatric Surgical Patients to Adult Surgical Care: A Call to Action. JAMA Surg. 2014 Apr 2.

2013

De Blaauw I, Wijers CHW, Schmiedeke E, Holland-Cunz S, Gamba P, Marcelis CLM, Reutter H, Aminoff D, Schipper M, Schwarzer N, Grasshoff-Derr S, Midrio P, Jenetzky E, van Rooij IALM.  First results of a European multi-center registry of patients with anorectal malformations. J Pediatr Surg 2013;48(12):2530-5.

Versteegh HP, van Rooij IA, Levitt MA, Sloots CE, Wijnen RM, de Blaauw I.  Long-term follow-up of functional outcome in patients with a cloacal malformation: A systematic review. J Pediatr Surg. 2013 Nov;48(11):2343-50.

Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F.  Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int 2014;85(6):1310-7.

Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IA, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Zwink N, Ludwig M, Reutter H.  De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. Am J Med Genet A. 2013 Dec;161(12):3035-41.

Wijers CH, van Rooij IA, Bakker MK, Marcelis CL, Addor MC, Barisic I, Béres J, Bianca S, Bianchi F, Calzolari E, Greenlees R, Lelong N, Latos-Bielenska A, Dias CM, McDonnell R, Mullaney C, Nelen V, O’Mahony M, Queisser-Luft A, Rankin J, Zymak-Zakutnia N, de Blaauw I, Roeleveld N, de Walle HE.  Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions. BJOG. 2013 Aug;120(9):1066-74.

Hilger A, Schramm C, Pennimpede T, Wittler L, Dworschak GC, Bartels E, Engels H, Zink AM, Degenhardt F, Müller AM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Wijers CH, Marcelis CL, van Rooij IA, Hildebrandt F, Herrmann BG, Nöthen MM, Ludwig M, Reutter H, Draaken M.  De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet. 2013 Dec;21(12):1377-82.

Grano C, Bucci S, Aminoff D, Lucidi F, Violani C.  Does mothers’ perception of social support mediate the relationship between fecal incontinence and quality of life of the child? Pediatr Surg Int. 2013 29:919-23.

Grano C, Bucci S, Aminoff D, Lucidi F, Violani C.  Quality of life in children and adolescents with anorectal malformation. Pediatr Surg Int. 2013 29:925-30.

Giuliani S, Midrio P, De Filippo RE, Vidal E, Castagnetti M, Zanon GF, Gamba PG.  Anorectal malformation and associated end-stage renal disease: management from newborn to adult life. J Pediatr Surg. 2013;48(3):635-41. Review. 

2012

Bartels E, Schulz AC, Mora NW, Pineda-Alvarez-DE, Wijers-CH, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IA, Solomon BD, Reutter HM.  VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol. 2012;21:191-5.

Schmiedeke E, Zwink N, Schwarzer N, Bartels E, Schmidt D, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Jablonka K, Maerzheuser S, Reutter H, Lorenz C, Jenetzky E.  Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies. Pediatr Surg Int. 2012 Aug;28(8):825-30.

Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Reutter H, Zwink N.  Inheritance of the VATER/VACTERL association. Pediatr Surg Int. 2012 Jul;28(7):681-5.

Grano C, Aminoff D, Lucidi F, Violani C. Long-term disease-specific quality of life in children and adolescent patients with ARM. J Pediatr Surg. 2012 47:1317-1322.

2011

Marcelis C, de Blaauw I, Brunner H.  Chromosomal anomalies in the etiology of anorectal malformations: a review. Am J Med Genet A. 2011 Nov;155A(11):2692-704. Review.

Goossens WJ, de Blaauw I, Wijnen MH, de Gier RP, Kortmann B, Feitz WF.  Urological anomalies in anorectal malformations in The Netherlands: effects of screening all patients on long-term outcome. Pediatr Surg Int. 2011 Oct;27(10):1091-7.

Grasshoff-Derr S, Backhaus K, Hubert D, Meyer T.  A successful treatment strategy in infants and adolescents with anorectal malformation and incontinence with combined hydrocolonic ultrasound and bowel management. Pediatr Surg Int. 2011; 27(10): 1099-103.

Maerzheuser S, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Schmiedeke E, Schwarzer N, Spychalski N, Goetz G, Schmidt D.  German Network for Congenital Uro-REctal Malformations: first evaluation and interpretation of postoperative urological complications in anorectal malformations. Pediatr Surg Int. 2011; 27(10): 1085-9.

Jenetzky E, Wijers CHW, Marcelis CM, Zwink N, Reutter H, van Rooij IALM.  Bias in patient series with VACTERL association. Am J Med Genet A. Am J Med Genet A. 2011;155(8): 2039-41.

Bartels E, Draaken M, Kazmierczak B, Spranger S, Schramm C, Baudisch F, Nöthen MM, Schmiedeke E, Ludwig M, Reutter H.  De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation. Cytogenet Genome Res. 2011; 134(3): 243-8.

Zwink N, Jenetzky E, Brenner H.  Parental risk factors and anorectal malformations: systematic review and meta-analysis. Orphanet Journal of Rare Diseases 2011; 6: 25.

Schramm C, Draaken M, Bartels E, Boemers TM, Schmiedeke E,Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Baudisch F, Priebe L, Hoffmann P, Zink AM, Engels H, Brockschmidt FF, Aretz S, Nöthen MM, Ludwig M, Reutter H.  De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A. 2011; 155(2): 445-9.

Grano C, Aminoff D, Lucidi F, et al.  Long-term disease-specific quality of life in adult ARM patients. J Pediatr Surg. 2011;46:691-8.

2010

Schramm C, Draaken M, Tewes G, Bartels E, Schmiedeke E, Märzheuser S, Grasshoff-Derr S, Hosie S, Holland-Cunz S, Priebe L, Kreiß-Nachtsheim M, Hoffmann P, Aretz S, Nöthen MM, Reutter H, Ludwig M.  Autosomal-dominant non-syndromic anal atresia: Sequencing of candidate genes, array-based molecular karyotyping and review of the literature. Eur J Pediatr. 2011; 170(6): 741-6.

Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA.  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. Pediatr Surg Int. 2010; 26(11): 1093-9.

van Rooij IA, Wijers CH, Rieu PN, Hendriks HS, Brouwers MM, Knoers NV, de Blaauw I, Roeleveld N.  Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study. Birth Defects Res A Clin Mol Teratol. 2010 Mar;88(3):152-8.

Grano C, Aminoff D, Lucidi F, et al.  Disease-specific quality of life in children and adults with anorectal malformations. Pediatr Surg Int. 2010;26:151-5.

Giuliani S, Vendryes C, Malhotra A, Shaul DB, Anselmo DM.  Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant. J Pediatr Surg. 2010;45(11):e39-42