Publikationen 2024
- Mammadova D, Kraus C, Leis T, Popp B, Zweier C, Reis A, Trollmann R. (2024). Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A. Front Neurol. 15:1458109.
- Schader C, Schmidlechner T, Cornell S, Gerstl L, Trollmann R, Borggraefe I. (2024). Risk of behavioral disturbances in pediatric patients with epilepsy and mild to moderate cognitive impairment: A cross-sectional study. Epileptic Disord. 26(5):676-684.
- Hammann N, Lenz D, Bianzano A, Husain RA, Forman E, Bernstein JA, Dattner T, Engelen M, Hanson-Kahn AK, Isidor B, Kotzaeridou U, Tietze A, Trollmann R, Weiß C, Wolffenbuttel BHR, Kölker S, Hoffmann GF, Crushell E, Staufner C, Mohr A, Harting I. MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration. (2024). J Inherit Metab Dis. 47(5):1028-1046.
- Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M. (2024). Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset. Neurology. 102(1):e207898.
- Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. (2024). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PLoS One. 18(11):e0293503.
Publikationen 2023
- Asadollahi, R., Delvendahl, I., Muff, R., Tan, G., Rodriguez, D. G., Turan, S., Russo, M., Oneda, B., Joset, P., Boonsawat, P., Masood, R., Mocera, M., Ivanovski, I., Baumer, A., Bachmann-Gagescu, R., Schlapbach, R., Rehrauer, H., Steindl, K., Begemann, A., Reis, A., Winkler, J., Winner, B., Muller, M., & Rauch, A. (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Hum Mol Genet. 32(13), 2192–2204.
- Schmid, C. M., Gregor, A., Costain, G., Morel, C. F., Massingham, L., Schwab, J., Quélin, C., Faoucher, M., Kaplan, J., Procopio, R., Saunders, C. J., Cohen, A. S. A., Lemire, G., Sacharow, S., O'Donnell-Luria, A., Segal, R. J., Kianmahd Shamshoni, J., Schweitzer, D., Ebrahimi-Fakhari, D., Monaghan, K., Palculict, T. B., Napier, M. P., Tao, A., Isidor, B., Moradkhani, K., Reis, A., Sticht, H., Chung, W. K., & Zweier, C. (2023). LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.Genet Med. 25(7): 100839.
- Bosch, E., Popp, B., Güse, E., Skinner, C., ..., Stevenson, R. E., Santen, G. W. E., Zweier, M., Campeau, P. M., Severino, M., Reis, A., Accogli, A., & Vasileiou, G. (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 25(11): 100950.
- Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B…, Callewaert B, Reis A, Zweier C, …Schnur RE, Vitobello A, Banka S, Bhoj EJ, Stessman HAF. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv. 9:eade1463.
- Blum KL, Krumbiegel M, Kraus C, Reis A, Hüffmeier U. (2023). Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? Eur J Med Genet. 66: 104717. doi: 10.1016/j.ejmg.2023.104717.
- Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, Oneda B, Rauch A, Reis A, Krumbiegel M, Hüffmeier U. Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. (2023) Eur J Med Genet. 66:104669.
- Kern J, Böhringer J, Timmann D,TrollmannR, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M. (2024). Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis. Neurology 102(1):e207898.
- Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. (2023). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PLoS One. 18(11):e0293503.
- Mammadova D, Vecko J, Hofmann M, Schüssler SC, Deiters L, Canda A, Wieland AK, Gollwitzer S, Hamer H, Trollmann R. (2023). A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex. Orphanet J Rare Dis. 18(1):349.
- Maltseva M, Rosenow F, Schubert-Bast S, Flege S, Wolff M, von Spiczak S, Trollmann R, Syrbe S, Ruf S, Polster T, Neubauer BA, Mayer T, Jacobs J, Kurlemann G, Kluger G, Klotz KA, Kieslich M, Kay L, Hornemann F, Bettendorf U, Bertsche A, Bast T, Strzelczyk A. (2023). Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany. Epilepsia 65(1):115-126.
Reindl C, Walther K, Allgäuer AL, Lang JD, Welte TM, Stritzelberger J, Gollwitzer S, Schwarz M, Trollmann R, Madzar D, Knott M, Doerfler A, Seifert F, Rössler K, Brandner S, Rampp S, Schwab S, Hamer HM. (2023). Age of epilepsy onset as modulating factor for naming deficit after epilepsy surgery: a voxel-based lesion-symptom mapping study. Sci Rep. 13(1):14395.
- Wimmer S, Toni I, Botzenhardt S, Trollmann R, Rascher W, Neubert A. (2023). Impact of a computerized physician order entry system on medication safety in pediatrics-The AVOID study. Pharmacol Res Perspect. 11(3):e01092.
- Maltseva M, Schubert-Bast S, Zöllner JP, Bast T, Mayer T, von Spiczak S, Ruf S, Trollmann R, Wolff M, Hornemann F, Klotz KA, Jacobs J, Kurlemann G, Neubauer BA, Polster T, Syrbe S, Bertsche A, Bettendorf U, Kluger G, Flege S, Rosenow F, Kay L, Strzelczyk A. (2023). Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany. Orphanet J Rare Dis. 18(1):98.
- Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K. (2023). Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany. J Neuromuscul Dis. 10(1):55-65.
Publikationen 2022
- Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A. (2022). SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genet Med. 24: 1261-1273.
- Frosch M, Leinwather S, Bielack S, Blödt S, Dirksen U, Dobe M, Geiger F, Häfner R, Höfel L, Hübner-Möhler B, von Kalle T, Lawrenz B, Leutner A, Mecher F, Mladenov K, Norda H, Stahlschmidt L, Steinborn M, Stücker R, Trauzeddel R, Trollmann R, Wager J, Zernikow B. (2022). Treatment of Unspecific Back Pain in Children and Adolescents: Results of an Evidence-Based Interdisciplinary Guideline. Children (Basel). 9(3):417.
- Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, Uebe S, Thiel CT, Kraus C, Reis A, Zweier C. (2022). Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). Am J Med Genet A 188: 292-297.
- Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.Genet Med. 24:2065-2078.
- Karpf J, Unichenko P, Chalmers N, Beyer F, Wittmann MT, Schneider J, Fidan E, Reis A, Beckervordersandforth J, Brandner S, Liebner S, Falk S, Sagner A, Henneberger C, Beckervordersandforth R. Dentate gyrus astrocytes exhibit layer-specific molecular, morphological and physiological features (2022). Nat Neurosci. 25:1626-1638.
- Klepper S, Jung S, Dittmann L, Geppert CI, Hartmann A, Beier N, Trollmann R. (2022). Further Evidence of Neuroprotective Effects of Recombinant Human Erythropoietin and Growth Hormone in Hypoxic Brain Injury in Neonatal Mice. Int J Mol Sci. 23(15):8693.
- Mazurek B, Hesse G, Dobel C, Kratzsch V, Lahmann C, Sattel H; Guideline group. (2022). Chronic Tinnitus. Dtsch Arztebl Int. 119(13):219-225.
- Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, Bralo MP, Tenorio-Castano J, Lapunzina P, Almoguera B, Lopez-Grondona F, Sticht H, Zweier C. (2022). The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clin Genet. 102: 517-523.
- Reindl C, Allgäuer AL, Kleiser BA, Onugoren MD, Lang JD, Welte TM, Stritzelberger J, Winder K, Schwarz M, Gollwitzer S, Trollmann R, Rösch J, Doerfler A, Rössler K, Brandner S, Madžar D, Seifert F, Rampp S, Hamer HM, Walther K. (2022). Resection of dominant fusiform gyrus is associated with decline of naming function when temporal lobe epilepsy manifests after the age of five: A voxel-based lesion-symptom mapping study. Neuroimage Clin. 35:103129.
- Rieger M, Turk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, Reis A, Thiel C (2022). SRD5A3-CDG: Twins with an intragenic tandem duplication. Eur J Med Genet 65: 104492.
- Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B (2022). De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet 59: 965-975.
- Schneider J, Weigel J, Wittmann MT, Svehla P, Ehrt S, Zheng F, Elmzzahi T, Karpf J, Paniagua-Herranz L, Basak O, Ekici A, Reis A, Alzheimer C, Ortega de la OF, Liebscher S, Beckervordersandforth R (2022). Astrogenesis in the murine dentate gyrus is a life-long and dynamic process. EMBO J 41: e110409.
- Schüssler SC, Schmidt M, Deiters L, Candova A, Fahlbusch FB, Trollmann R. (2022). Long-term outcomes of very-low-birth-weight and low-birth-weight preterm newborns with neonatal seizures: A single-center perspective. Eur J Paediatr Neurol. 36:137-142.
- Strzelczyk A, Kurlemann G, Bast T, Bettendorf U, Kluger G, Mayer T, Neubauer BA, Polster T, von Spiczak S, Trollmann R, Wolff M, Toward T, Gruenert J, Gibson E, Pritchard C, Carroll J, Rosenow F, Schubert-Bast S. (2022). Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome. Neurol Res Pract. 4(1):22.
Publikationen 2021
- Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. (2021a). Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med. (Berl) 99(12):1769-1770.
- Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. (2021b) The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med. (Berl), 99(12):1755-1768.
- Bernert G, Hahn A, Köhler C, Meyer S, Schara U, Schlachter K, Trollmann R, Walter MC. (2021). Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy]. Nervenarzt, 92(4), 359-366.
- Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, Kraus C, Wilson WG, Khan S, Krumbiegel M, Ekici AB, Uebe S, Trollmann R, Woelfle J, Reis A, Vasileiou G. (2021). BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome. J Clin Endocrinol Metab, 106(12): 3413-3427.
- Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M. (2021). Genome sequencing in families with congenital limb malformations. Hum Genet, 140(8):1229-1239.
- Fasching PA, Yadav S, Hu C, Wunderle M, Häberle L, Hart SN, Rübner M, Polley EC, Lee KY, Gnanaolivu RD, Hadji P, Hübner H, Tesch H, Ettl J, Overkamp F, Lux MP, Ekici AB, Volz B, Uhrig S, Lüftner D, Wallwiener M, Müller V, Belleville E, Untch M, Kolberg HC, Beckmann MW, Reis A, Hartmann A, Janni W, Wimberger P, Taran FA, Fehm TN, Wallwiener D, Brucker SY, Schneeweiss A, Hartkopf AD, Couch FJ. (2021). Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis. J Clin Oncol. 39(15):1619-1630.
- Fetzer, S., Dibue, M., Nagel, A. M., & Trollmann, R. (2021). A systematic review of magnetic resonance imaging in patients with an implanted vagus nerve stimulation system. Neuroradiology, 63(9):1407-1417.
- Grau J, Zöllner JP, Schubert-Bast S, Kurlemann G, Hertzberg C, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Willems LM, Rosenow F, Strzelczyk A. (2021). Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study. Orphanet J Rare Dis. 16(1):282.
- Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C. (2021). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Hum Mol Genet. 31(3):440-454.
- Haskamp S, Horowitz JS, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, Prinz JC, Burkhardt H, Behrens F, Böhm B, Köhm M, Rech J, Simon D, Schett G, Morrison K, Gerdes S, Assmann G, Nimeh A, Schuster V, Jacobi A, Weyergraf A, Reis A, Uebe S, Wilsmann-Theis D, Mößner R, Hüffmeier U. (2021). Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany. J Invest Dermatol. 141(8):2079-2083.
- Hetzelt KLML, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C. (2021). Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. Eur J Med Genet. 64(1):104123.
- Hetzelt KLML, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, Uebe S, Thiel CT, Kraus C, Reis A, Zweier C. (2022). Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). Am J Med Genet A. 188(1):292-297.
- Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF; UCLA California Center for Rare Disease; Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis. 16(1):136.
- Jung, S., Terorde, K., Dorr, H. G., & Trollmann, R. (2021). Recombinant Human Growth Hormone Activates Neuroprotective Growth Factors in Hypoxic Brain Injury in Neonatal Mice. Endocrinology. 62(3):bqab008.
- Korinthenberg R, Trollmann R, Plecko B, Stettner GM, Blankenburg M, Weis J, Schoser B, Müller-Felber W, Lochbuehler N, Hahn G, Rudnik-Schöneborn S. (2021). Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines. Children (Basel). 8(8):687.
- Lang JD, Kostev K, Reindl C, Mueller TM, Stritzelberger J, Gollwitzer S, Westermayer V, Trollmann R, Hamer HM. (2021). Manufacturer switch of anti-seizure drugs may not increase the risk of seizure recurrence in Children: A nationwide study of prescription data in Germany. Epilepsy Behav. 115:107705.
- Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM. (2021). De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. Genet Med. 23(4):645-652.
- Regensburger AP, Wagner AL, Danko V, Jüngert J, Federle A, Klett D, Schuessler S, Buehler A, Neurath MF, Roos A, Lochmüller H, Woelfle J, Trollmann R, Waldner MJ, Knieling F. (2021). Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients. Photoacoustics. 25:100315.
- Schuttler, C., Munster, T., Gall, C., Trollmann, R., & Schuttler, J. (2021). General Anesthesia in the First 36 Months of Life. Dtsch Arztebl Int. 118(49):835-841.
- Strzelczyk A, Pringsheim M, Mayer T, Polster T, Klotz KA, Muhle H, Alber M, Trollmann R, Spors H, Kluger G, Kurlemann G, Schubert-Bast S. (2021). Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany. Epilepsia, 62(10):2518-2527.
- Trollmann, R. (2021). Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies. Front Neurol. 12:623625.
- Wagner AL, Danko V, Federle A, Klett D, Simon D, Heiss R, Jüngert J, Uder M, Schett G, Neurath MF, Woelfle J, Waldner MJ, Trollmann R, Regensburger AP, Knieling F. (2021). Precision of handheld multispectral optoacoustic tomography for muscle imaging. Photoacoustics. 21:100220.
- Wattiez AS, Castonguay WC, Gaul OJ, Waite JS, Schmidt CM, Reis AS, Rea BJ, Sowers LP, Cintrón-Pérez CJ, Vázquez-Rosa E, Pieper AA, Russo AF. (2021). Different forms of traumatic brain injuries cause different tactile hypersensitivity profiles. Pain. 162(4):1163-1175.
- Wetzl M, May MS, Weinmann D, Hammon M, Kopp M, Ruppel R, Trollmann R, Woelfle J, Uder M, Rompel O. (2021). Potential for Radiation Dose Reduction in Dual-Source Computed Tomography of the Lung in the Pediatric and Adolescent Population Compared to Digital Radiography. Diagnostics (Basel). 11(2):270.
- Willems LM, Rosenow F, Schubert-Bast S, Kurlemann G, Zöllner JP, Bast T, Bertsche A, Bettendorf U, Ebrahimi-Fakhari D, Grau J, Hahn A, Hartmann H, Hertzberg C, Hornemann F, Immisch I, Jacobs J, Klein KM, Klotz KA, Kluger G, Knake S, Knuf M, Marquard K, Mayer T, Meyer S, Muhle H, Müller-Schlüter K, von Podewils F, Ruf S, Sauter M, Schäfer H, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wiemer-Kruel A, Wilken B, Zukunft B, Strzelczyk A. (2021). Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives. CNS Drugs.35(10):1107-1122.
- Wittmann MT, Katada S, Sock E, Kirchner P, Ekici AB, Wegner M, Nakashima K, Lie DC, Reis A. (2021). scRNA sequencing uncovers a TCF4-dependent transcription factor network regulating commissure development in mouse. Development. 148(14):dev196022.
- Zahn, J., Hoerning, A., Trollmann, R., Rascher, W., & Neubert, A. (2021). Erratum: Manipulation of Medicinal Products for Oral Administration to Paediatric Patients at a German University Hospital: An Observational Study. Pharmaceutics 13(7):939.
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, Reis A, Thiel CT. (2021). Clinical and molecular delineation of spondylocostal dysostosis type 3. Clin Genet. 99:851-852.