S. Grasshoff-Derr

发表

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

I. V. van Rooij, D. Tibboel, V. Tasic, 2013, Kidney international.

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

I. V. van Rooij, H. Brunner, M. Clementi, 2010, Pediatric Surgery International.

Inheritance of the VATER/VACTERL association

M. Nöthen, B. Solomon, N. Zwink, 2012, Pediatric Surgery International.

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

I. V. van Rooij, E. Jenetzky, H. Reutter, 2013, Journal of pediatric surgery.

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

H. Brenner, N. Zwink, E. Jenetzky, 2012, Orphanet Journal of Rare Diseases.

Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families.

M. Lacher, J. Schumacher, N. Zwink, 2016, Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2022, bioRxiv.

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

R. Pfundt, M. Nöthen, I. V. van Rooij, 2013, American journal of medical genetics. Part A.

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

M. Nöthen, M. Lacher, N. Zwink, 2015, Birth defects research. Part A, Clinical and molecular teratology.

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

M. Nöthen, M. Lacher, N. Zwink, 2014, Birth defects research. Part A, Clinical and molecular teratology.

What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members’ opinion

I. V. van Rooij, C. Grano, M. Lacher, 2019, Pediatric Surgery International.

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

M. Nöthen, B. Herrmann, L. Wittler, 2013, European Journal of Human Genetics.

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

M. Nöthen, P. Hoffmann, S. Aretz, 2011, European Journal of Pediatrics.

Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated anorectal malformation

M. Lacher, E. Jenetzky, H. Reutter, 2022, Birth defects research.