Prof. Dr. ID: 71389
Rene Santer
Publications
- 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Mütze, U., Ottenberger, A., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Vom Dahl, S., Weinhold, N., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T., Behne, R., Haas, D., Spiekerkoetter, U., Hoffmann, G. F., Garbade, S. F., Grünert, S. C. & Kölker, S., 04.2024, In: ANN CLIN TRANSL NEUR. 11, 4, p. 883-898 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2023
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze, U., Henze, L., Schröter, J., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1063-1077 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmannd, S., 06.2023, In: GENET MED. 25, 6, p. 100828Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmann, S., 06.2023, In: GENET MED. 25, 6, p. 100314Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
Murko, S., Peschka, M., Tsiakas, K., Schulz-Jürgensen, S., Herden, U. & Santer, R., 06.2023, In: MOL GENET METAB REP. 35, p. 100977Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
Neugeborenenscreening auf angeborene Störungen des Stoffwechsels, des Hormon-, des Blut-, des Immunsystems und des neuromuskulären Systems
Murko, S., Gramer, G. & Santer, R., 04.2023, In: Kinder- und Jugendarzt. 54, 4, p. 234-246Research output: SCORING: Contribution to journal › Training articles › Education › peer-review
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M., Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 06.03.2023, In: HUM MOL GENET. 32, 6, p. 917-933 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effects of Infantile Hypophosphatasia on Human Dental Tissue
Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y-H., Cortès-Saladelafont, E., De Laet, C., Dobbelaere, D., Eysken, F., Gautschi, M., Santer, R., Häberle, J., Joaquín, C., Karall, D., Lindner, M., Lund, A. M., Mühlhausen, C., Murphy, E., Roland, D., Ruiz Gomez, A., Skouma, A., Grünert, S. C., Wagenmakers, M., Garbade, S. F., Kölker, S. & Boy, N., 03.2023, In: J INHERIT METAB DIS. 46, 2, p. 220-231 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany
Murko, S., Aseman, A. D., Reinhardt, F., Gramer, G., Okun, J. G., Mütze, U. & Santer, R., 01.2023, In: JIMD reports. 64, 1, p. 114-120 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park, J. H., Nordström, U., Tsiakas, K., Keskin, I., Elpers, C., Mannil, M., Heller, R., Nolan, M., Alburaiky, S., Zetterström, P., Hempel, M., Schara-Schmidt, U., Biskup, S., Steinacker, P., Otto, M., Weishaupt, J., Hahn, A., Santer, R., Marquardt, T., Marklund, S. L. & Andersen, P. M., 2023, In: BRAIN COMMUN. 5, 1, p. fcad017Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2022
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
Kožich, V., Schwahn, B. C., Sokolová, J., Křížková, M., Ditroi, T., Krijt, J., Khalil, Y., Křížek, T., Vaculíková-Fantlová, T., Stibůrková, B., Mills, P., Clayton, P., Barvíková, K., Blessing, H., Sykut-Cegielska, J., Dionisi-Vici, C., Gasperini, S., García-Cazorla, Á., Haack, T. B., Honzík, T., Ješina, P., Kuster, A., Laugwitz, L., Martinelli, D., Porta, F., Santer, R., Schwarz, G. & Nagy, P., 12.2022, In: REDOX BIOL. 58, p. 102517Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Grohmann-Held, K., Burgard, P., Baerwald, C. G. O., Beblo, S., Vom Dahl, S., Das, A., Dokoupil, K., Fleissner, S., Freisinger, P., Heddrich-Ellerbrok, M., Jung, A., Korpel, V., Krämer, J., Lier, D., Maier, E. M., Meyer, U., Mühlhausen, C., Newger, M., Och, U., Plöckinger, U., Rosenbaum-Fabian, S., Rutsch, F., Santer, R., Schick, P., Schwarz, M., Spiekerkötter, U., Strittmatter, U., Thiele, A. G., Ziagaki, A., Mütze, U., Gleich, F., Garbade, S. F. & Kölker, S., 11.2022, In: J INHERIT METAB DIS. 45, 6, p. 1070-1081 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Scharre, S., Posset, R., Garbade, S. F., Gleich, F., Seidl, M. J., Druck, A-C., Okun, J. G., Gropman, A. L., Nagamani, S. C. S., Hoffmann, G. F., Kölker, S., Zielonka, M., Urea Cycle Disorders Consortium (UCDC) & E-IMD consortium, 11.2022, In: ANN CLIN TRANSL NEUR. 9, 11, p. 1715-1726 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Bölsterli, B. K., Boltshauser, E., Palmieri, L., Spenger, J., Brunner-Krainz, M., Distelmaier, F., Freisinger, P., Geis, T., Gropman, A. L., Häberle, J., Hentschel, J., Jeandidier, B., Karall, D., Keren, B., Klabunde-Cherwon, A., Konstantopoulou, V., Kottke, R., Lasorsa, F. M., Makowski, C., Mignot, C., O'Gorman Tuura, R., Porcelli, V., Santer, R., Sen, K., Steinbrücker, K., Syrbe, S., Wagner, M., Ziegler, A., Zöggeler, T., Mayr, J. A., Prokisch, H. & Wortmann, S. B., 31.08.2022, In: NUTRIENTS. 14, 17, 3605.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y., Moura de Souza, C. F., Garcia-Jiménez, M. C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L. H., Hörbe-Blindt, A., Horka, L. M., Huemer, M., Uçar, S. K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E. M., Maiorana, A., McCandless, S. E., Mitchell, J. J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P. Q., Regier, D., Rossi, A., Santer, R., Schuman, H. C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K. M., Tal, G., Tanšek, M. Z., Torkar, A. D., Tchan, M., Thyagu, S., Schrier Vergano, S. A., Vucko, E., Weinhold, N., Zsidegh, P. & Wortmann, S. B., 08.2022, In: GENET MED. 24, 8, p. 1781-1788 8 p.Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Kuseyri Hübschmann, O., Juliá-Palacios, N. A., Olivella, M., Guder, P., Zafeiriou, D. I., Horvath, G., Kulhánek, J., Pearson, T. S., Kuster, A., Cortès-Saladelafont, E., Ibáñez, S., García-Jiménez, M. C., Honzík, T., Santer, R., Jeltsch, K., Garbade, S. F., Hoffmann, G. F., Opladen, T. & García-Cazorla, Á., 08.2022, In: ANN NEUROL. 92, 2, p. 292-303 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
Ammer, L. S., Muschol, N. M., Santer, R., Lang, A., Breyer, S. R., Sasu, P. B., Petzoldt, M. & Dohrmann, T., 24.06.2022, In: J CLIN MED. 11, 13, 3650.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., 05.2022, In: EUR J HUM GENET. 30, 5, p. 611-618 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive
Marten, L. M., Wanes, D., Stellbrinck, T., Santer, R. & Naim, H. Y., 01.04.2022, In: BBA-MOL BASIS DIS. 1868, 4, p. 166338Research output: SCORING: Contribution to journal › Letter › Research › peer-review
Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
Derks, T., Lubout, C., Woidy, M. & Santer, R., 01.2022, Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau, N., Vici, C. D., Ferreira, C. R., Vianey-Saban, C. & van Karnebeek, C. D. M. (eds.). 2 ed. Springer Nature Switzerland, p. 649-700 52 p.Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review
- 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes
Langer, S., Waterstradt, R., Hillebrand, G., Santer, R. & Baltrusch, S., 12.2021, In: DIABETOLOGIA. 64, 12, p. 2687-2700 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants
Grünert, S. C., Schumann, A., Baronio, F., Tsiakas, K., Murko, S., Spiekerkoetter, U. & Santer, R., 10.11.2021, In: GENES-BASEL. 12, 11, 1785.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, O., Horvath, G., Cortès-Saladelafont, E., Yıldız, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S-N., Pearson, T. S., Zafeiriou, D. I., Kulhánek, J., Kurian, M. A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H. S., Leuzzi, V., Hoffmann, G. F., Jeltsch, K., Hübschmann, D., Garbade, S. F., García-Cazorla, A., Opladen, T. & iNTD Registry Study Group, 20.09.2021, In: NAT COMMUN. 12, 1, p. 5529Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C
Modin, L., Ng, V., Gissen, P., Raiman, J., Pfister, E. D., Das, A., Santer, R., Faghfoury, H., Santra, S. & Baumann, U., 17.09.2021, In: CHILDREN-BASEL. 8, 9, 819.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Congenital disorders of glycosylation with defective fucosylation
Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R. G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K. M., Santer, R., Herget, T., Rennings, A., Lefeber, D. J., Mayr, J. A., Thiel, C. & Wortmann, S. B., 08.2021, In: J INHERIT METAB DIS. 44, 6, p. 1441-1452 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Kuseyri Hübschmann, O., Mohr, A., Friedman, J., Manti, F., Horvath, G., Cortès-Saladelafont, E., Mercimek-Andrews, S., Yildiz, Y., Pons, R., Kulhánek, J., Oppebøen, M., Koht, J. A., Podzamczer-Valls, I., Domingo-Jimenez, R., Ibáñez, S., Alcoverro-Fortuny, O., Gómez-Alemany, T., de Castro, P., Alfonsi, C., Zafeiriou, D. I., López-Laso, E., Guder, P., Santer, R., Honzík, T., Hoffmann, G. F., Garbade, S. F., Sivri, H. S., Leuzzi, V., Jeltsch, K., García-Cazorla, A., Opladen, T., Harting, I. & International Working Group on Neurotransmitter Related Disorders (iNTD), 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 1070-1082 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Mütze, U., Henze, L., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Blessing, H., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, T., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Keller, M., Walter, M., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 857-870 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
Grünert, S. C., Eckenweiler, M., Haas, D., Lindner, M., Tsiakas, K., Santer, R., Tucci, S. & Spiekerkoetter, U., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 893-902 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
Märtner, E. M. C., Maier, E. M., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Santer, R., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grünert, S. C., Vossbeck, J., Steinfeld, R., Baumgartner, M. R., Beblo, S., Dieckmann, A., Näke, A., Lindner, M., Heringer-Seifert, J., Lenz, D., Hoffmann, G. F., Mühlhausen, C., Ensenauer, R., Garbade, S. F., Kölker, S. & Boy, N., 05.2021, In: J INHERIT METAB DIS. 44, 3, p. 629-638 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series
Heidepriem, J., Dahlke, C., Kobbe, R., Santer, R., Koch, T., Fathi, A., Seco, B. M. S., Ly, M. L., Schmiedel, S., Schwinge, D., Serna, S., Sellrie, K., Reichardt, N. C., Seeberger, P. H., Addo, M. M., Loeffler, F. F. & ID-UKE COVID-19 study group, 06.04.2021, In: PATHOGENS. 10, 4, 438.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Dulz, S., Atiskova, Y., Engel, P., Wildner, J., Tsiakas, K. & Santer, R., 02.2021, In: OPHTHALMIC GENET. 42, 1, p. 23-27 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
Pfefferle, S., Günther, T., Kobbe, R., Czech-Sioli, M., Nörz, D., Santer, R., Oh, J., Kluge, S., Oestereich, L., Peldschus, K., Indenbirken, D., Huang, J., Grundhoff, A., Aepfelbacher, M., Knobloch, J. K., Lütgehetmann, M. & Fischer, N., 01.2021, In: CLIN MICROBIOL INFEC. 27, 1, p. 130.e5-130.e8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Marten, L. M., Brinkert, F., Smith, D. E. C., Prokisch, H., Hempel, M. & Santer, R., 12.2020, In: MOL GENET METAB REP. 25, p. 100681Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
Pennisi, A., Maranda, B., Benoist, J-F., Baudouin, V., Rigal, O., Pichard, S., Santer, R., Romana Lepri, F., Novelli, A., Ogier de Baulny, H., Dionisi-Vici, C. & Schiff, M., 05.2020, In: J INHERIT METAB DIS. 43, 3, p. 540-548 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series
Dahlke, C., Heidepriem, J., Kobbe, R., Santer, R., Koch, T., Fathi, A., Ly, M. L., Schmiedel, S., Seeberger, P. H., ID-UKE COVID-19 study group, Addo, M. M. & Loeffler, F., 17.04.2020, In: medRxiv.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Hip Morphology in Mucolipidosis Type II
Ammer, L. S., Oussoren, E., Muschol, N. M., Pohl, S., Rubio-Gozalbo, M. E., Santer, R., Stücker, R., Vettorazzi, E. & Breyer, S., 08.03.2020, In: J CLIN MED. 9, 3, p. E728Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., 03.2020, In: GENET MED. 22, 3, p. 610-621 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., 11.2019, In: J INHERIT METAB DIS. 42, 6, p. 1192-1230 39 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. & Lupski, J. R., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 302-316 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Lukacs, Z., Nickel, M., Murko, S., Nieves Cobos, P., Schulz, A., Santer, R. & Kohlschütter, A., 05.2019, In: CLIN CHIM ACTA. 492, p. 69-71 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I., Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., 03.2019, In: GENET MED. 21, 3, p. 601-607 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2018
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms, F. L., Kloth, K., Bley, A., Denecke, J., Santer, R., Lessel, D., Hempel, M. & Kutsche, K., 04.10.2018, In: AM J HUM GENET. 103, 4, p. 579-591 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review