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R. Santer · SciRah

Researcher profile · Semantic Scholar

R. Santer

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R. Santer — researcher profile on SciRah

h-index: 52
Works: 211
Citations: 9,748

Most-cited papers

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, A. Burlina, A. Chakrapani, M. Dixon +12 more
2019Journal of Inherited Metabolic Disease456 citations Open access
Semantic Scholar
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Julien H. Park, Max Hogrebe, M. Grüneberg, I. DuChesne +20 more
2015American Journal of Human Genetics281 citations Open access
Semantic Scholar
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
C. P. Sentner, Irene J. Hoogeveen, David A. Weinstein, R. Santer +11 more
2016Journal of Inherited Metabolic Disease157 citations Open access
Semantic Scholar
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Sebene Mayorandan, U. Meyer, G. Gokçay, N. G. Segarra +29 more
2014Orphanet Journal of Rare Diseases126 citations Open access
Semantic Scholar
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.
S. Groeschel, J. Kühl, A. Bley, C. Kehrer +8 more
2016JAMA Neurology122 citations Open access
Semantic Scholar
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
L. Kremer, F. Distelmaier, B. Alhaddad, M. Hempel +17 more
2016American Journal of Human Genetics99 citations Open access
Semantic Scholar
MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.
M. Coady, Abdulah El Tarazi, R. Santer, P. Bissonnette +6 more
2017Journal of the American Society of Nephrology82 citations Open access
Semantic Scholar
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
Julien H. Park, Max Hogrebe, M. Fobker, Renate Brackmann +7 more
2017Genetics in Medicine80 citations Open access
Semantic Scholar
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.
F. L. Harms, K. Kloth, A. Bley, J. Denecke +4 more
2018American Journal of Human Genetics71 citations Open access
Semantic Scholar
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
J. N. Dines, Katie Golden-Grant, Amy Lacroix, Alison M. Muir +28 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
C. Staufner, B. Peters, M. Wagner, S. Alameer +47 more
2019Genetics in Medicine66 citations Open access
Semantic Scholar
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
R. R. Maas, K. Iwanicka-Pronicka, Sema Kalkan Uçar, B. Alhaddad +54 more
2017Annals of Neurology64 citations Open access
Semantic Scholar
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
M. Oud, P. Tuijnenburg, M. Hempel, Naomi van Vlies +34 more
2017American Journal of Human Genetics61 citations Open access
Semantic Scholar
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
S. C. Grünert, T. Derks, Katarina Adrian, K. Al-Thihli +60 more
2022Genetics in Medicine60 citations Open access
Semantic Scholar
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
A. Hahn, Susanne Praetorius, N. Karabul, Johanna Dießel +15 more
2015JIMD Reports60 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +191 more
2016American Journal of Human Genetics58 citations Open access
Semantic Scholar
Long‐term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single‐center experience and a review of the literature
E. Grabhorn, K. Tsiakas, U. Herden, L. Fischer +5 more
2014Liver transplantation52 citations
Semantic Scholar
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.
P. Andersen, Ulrika Nordström, K. Tsiakas, J. Johannsen +6 more
2019New England Journal of Medicine51 citations Open access
Semantic Scholar
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
S. Grünert, Sonja Marina Schlatter, R. Schmitt, C. Gemperle-Britschgi +20 more
2017Molecular Genetics and Metabolism46 citations
Semantic Scholar
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
C. Díez‐Fernández, V. Rüfenacht, S. Santra, A. Lund +8 more
2016Genetics in Medicine46 citations Open access
Semantic Scholar
CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals
F. Barvencik, I. Kurth, T. Koehne, T. Stauber +15 more
2014Journal of Bone and Mineral Research45 citations Open access
Semantic Scholar
Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
R. Kopajtich, Dmitrii Smirnov, S. L. Stenton, Stefan Loipfinger +38 more
2021medRxiv43 citations Open access
Semantic Scholar
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
P. Fortugno, Emmanuelle Josselin, K. Tsiakas, Emanuele Agolini +10 more
2014Journal of Investigative Dermatology43 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +30 more
2017American Journal of Human Genetics40 citations Open access
Semantic Scholar
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
P. V. van Hasselt, I. Barić, A. Burlina, N. Darin +21 more
2015Neuropediatrics39 citations Open access
Semantic Scholar
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, G. Horvath, E. Cortés-Saladelafont, Y. Yıldız +47 more
2021Nature Communications38 citations Open access
Semantic Scholar
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
R. Santer, M. du Moulin, Tatevik Shahinyan, I. Vater +3 more
2016Orphanet Journal of Rare Diseases38 citations Open access
Semantic Scholar
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
U. Mütze, L. Henze, F. Gleich, M. Lindner +23 more
2021Journal of Inherited Metabolic Disease35 citations Open access
Semantic Scholar
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
A. Pop, Monique Williams, E. Struys, M. Monné +21 more
2017Journal of Inherited Metabolic Disease34 citations Open access
Semantic Scholar
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
V. Kožich, B. Schwahn, J. Sokolová, Michaela Křížková +24 more
2022Redox Biology32 citations Open access
Semantic Scholar
Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series
C. Dahlke, J. Heidepriem, R. Kobbe, R. Santer +7 more
2020medRxiv32 citations Open access
Semantic Scholar
Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs
U. Herden, E. Grabhorn, R. Santer, Jun Li +8 more
2019Liver transplantation32 citations
Semantic Scholar
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Pauline E. Schneeberger, F. Kortüm, G. Korenke, M. Alawi +41 more
2020Brain : a journal of neurology30 citations Open access
Semantic Scholar
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
P. Cobos, C. Steglich, R. Santer, Z. Lukács +1 more
2015JIMD Reports30 citations Open access
Semantic Scholar
Hippocampal synaptic connectivity in phenylketonuria.
Katja Horling, G. Schlegel, Sarah Schulz, R. Vierk +3 more
2015Human Molecular Genetics30 citations Open access
Semantic Scholar
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
B. Bölsterli, E. Boltshauser, L. Palmieri, Johannes Spenger +28 more
2022Nutrients29 citations Open access
Semantic Scholar
Exome Sequencing in Children.
E. Mahler, J. Johannsen, K. Tsiakas, K. Kloth +13 more
2019Deutsches Ärzteblatt International28 citations Open access
Semantic Scholar
TMEM165 Deficiency: Postnatal Changes in Glycosylation.
S. Althoff, M. Grüneberg, J. Reunert, J. Park +5 more
2015JIMD Reports27 citations
Semantic Scholar
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
S. C. Grünert, M. Eckenweiler, D. Haas, M. Lindner +4 more
2021Journal of Inherited Metabolic Disease26 citations Open access
Semantic Scholar
Congenital disorders of glycosylation with defective fucosylation
Andreas Hüllen, Kristin N. Falkenstein, C. Weigel, H. Huidekoper +16 more
2021Journal of Inherited Metabolic Disease26 citations Open access
Semantic Scholar
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
T. Scholz, M. Blohm, F. Kortüm, T. Bierhals +14 more
2021Neonatology24 citations
Semantic Scholar
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
M. Hempel, L. Kremer, K. Tsiakas, B. Alhaddad +7 more
2017Mitochondrion (Amsterdam. Print)24 citations
Semantic Scholar
Phenylketonuria: Direct and indirect effects of phenylalanine.
G. Schlegel, Ralf Scholz, K. Ullrich, R. Santer +1 more
2016Experimental Neurology24 citations
Semantic Scholar
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
W. Fazeli, S. Kaczmarek, M. Kirschstein, R. Santer
2015BMC Gastroenterology23 citations Open access
Semantic Scholar
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells
J. Böhringer, R. Santer, Neele Schumacher, F. Gieseke +8 more
2017Human Mutation22 citations Open access
Semantic Scholar
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
E. M. Charlotte Märtner, E. Maier, Katharina Mengler, E. Thimm +23 more
2020Journal of Inherited Metabolic Disease21 citations Open access
Semantic Scholar
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
G. Vogel, Y. Mozer-Glassberg, Y. Landau, L. Schlieben +57 more
2022Genetics in Medicine20 citations Open access
Semantic Scholar
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
J. Johannsen, F. Kortüm, G. Rosenberger, K. Bokelmann +3 more
2018Neurogenetics20 citations
Semantic Scholar
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Julien H. Park, Ulrika Nordström, K. Tsiakas, Isil Keskin +17 more
2023Brain Communications19 citations Open access
Semantic Scholar
SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
S. Pfefferle, Thomas Günther, R. Kobbe, Manja Czech-Sioli +13 more
2020Clinical Microbiology and Infection19 citations Open access
Semantic Scholar

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