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Alina Christine Hilger

Observed names: A C Hilger, A Hilger, A. Hilger, ALINA C. HILGER, ALINA HILGER, Alina C Hilger, Alina C. Hilger, Alina Hilger, Hilger, A., Hilger, Alina, Hilger, Alina C., Hilger, Alina Christine
Observed institutions: University of Bonn, Friedrich-Alexander-Universität Erlangen-Nürnberg, University of Michigan, University Hospital Bonn, Universitätsklinikum Erlangen, Institute of Human Genetics, Institut für Humangenetik
ORCID: 0000-0002-0354-7584
Observed ORCID: 0000-0002-0354-7584
OpenAlex ID: A5025052862
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
2014 · Daw-Yang Hwang, Gabriel C. Dworschak, et al. · Kidney International · 264
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
2013 · Pawaree Saisawat, Stefan Kohl, et al. · Kidney International · 131
Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
2014 · Stefan Kohl, Daw-Yang Hwang, et al. · Journal of the American Society of Nephrology · 117
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
2015 · Daw-Yang Hwang, Stefan Kohl, et al. · Human Genetics · 72
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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
2013 · Gabriel C. Dworschak, Markus Draaken, et al. · American Journal of Medical Genetics Part A · 66
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2
2016 · G.C. Dworschak, C. Crétolle, et al. · Clinical Genetics · 61
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies ImplicateZIC3andFOXF1in Human VATER/VACTERL Association
2015 · Alina C. Hilger, Jan Halbritter, et al. · Human Mutation · 55
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype
2016 · Heiko Reutter, Alina C. Hilger, et al. · Pediatric Nephrology · 51
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
2019 · Caroline M. Kolvenbach, Gabriel C. Dworschak, et al. · The American Journal of Human Genetics · 47
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Familial occurrence of the VATER/VACTERL association
2012 · Alina Hilger, Charlotte Schramm, et al. · Pediatric Surgery International · 45
Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation
2016 · Felix Schreiner, Michaela Plamper, et al. · The Journal of Clinical Endocrinology & Metabolism · 43
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
2013 · Alina Hilger, Charlotte Schramm, et al. · European Journal of Human Genetics · 41
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Liddle syndrome in a Serbian family and literature review of underlying mutations
2011 · Radovan Bogdanović, Vladimir Kuburović, et al. · European Journal of Pediatrics · 39
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
2016 · Erwin Brosens, Florian Marsch, et al. · European Journal of Human Genetics · 32
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
2012 · MARKUS DRAAKEN, WIEBKE PRINS, et al. · International Journal of Molecular Medicine · 31
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Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations
2022 · Stefan Kohl, Fred E Avni, et al. · Nephrology Dialysis Transplantation · 30
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VATER/VACTERL association
2012 · Enrika Bartels, Anna C. Schulz, et al. · Clinical Dysmorphology · 30
Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs
2016 · Madita Schumann, Andrea Hofmann, et al. · Journal of Neurodevelopmental Disorders · 28
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SLC20A1 Is Involved in Urinary Tract and Urorectal Development
2020 · Johanna Magdalena Rieke, Rong Zhang, et al. · Frontiers in Cell and Developmental Biology · 27
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Whole exome sequencing and array‐based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson–Golabi–Behmel syndrome
2016 · Christina Kehrer, Alexander Hoischen, et al. · Prenatal Diagnosis · 24
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene
2018 · Valerie Weitensteiner, Rong Zhang, et al. · Birth Defects Research · 23
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
2014 · Claudia Zeidler, Joachim Woelfle, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 22
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
2013 · GABRIEL C. DWORSCHAK, MARKUS DRAAKEN, et al. · International Journal of Molecular Medicine · 22
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HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum
2019 · Franziska Kause, Rong Zhang, et al. · Birth Defects Research · 21
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Genome‐wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
2014 · Gabriel C. Dworschak, Markus Draaken, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 21
Works count: 89
Citation count: 1,669
H-index: 22
I10-index: 42
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