Institute of Neuropathology
Publications
- 2016
Epidermal growth factor receptor overexpression is common and not correlated to gene copy number in ependymoma
Friedrich, C., von Bueren, A. O., Kolevatova, L., Bernreuther, C., Grob, T., Sepulveda-Falla, D., van den Boom, L., Westphal, M., Simon, R. & Glatzel, M., 02.2016, In: CHILD NERV SYST. 32, 2, p. 281-90Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Limited Unfolded Protein Response and Inflammation in Neuroserpinopathy
López-González, I., Pérez-Mediavilla, A., Zamarbide, M., Carmona, M., Torrejón Escribano, B., Glatzel, M., Galliciotti, G. & Ferrer, I., 02.2016, In: J NEUROPATH EXP NEUR. 75, 2, p. 121-33Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
No obvious phenotypic abnormalities in mice lacking the Pate4 gene
Heckt, T., Keller, J., Reusch, R., Hartmann, K., Krasemann, S., Hermans-Borgmeyer, I., Amling, M. & Schinke, T., 22.01.2016, In: BIOCHEM BIOPH RES CO. 469, 4, p. 1069-1074Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Frontal lobe dementia syndrome as a first manifestation of primary angiitis of the central nervous system (PACNS).
Bönstrup, M., Ott, K., Glatzel, M. & Magnus, T. U., 04.01.2016, In: CLIN NEUROL NEUROSUR. 141, p. 92-94Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Canonical Wnt Signaling Drives Tumor-Like Lesions from Sox2-Positive Precursors of the Murine Olfactory Epithelium
Engel, N. W., Neumann, J. E., Ahlfeld, J., Wefers, A. K., Merk, D. J., Ohli, J. & Schüller, U., 2016, In: PLOS ONE. 11, 11, p. e0166690Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Meninigiomas of the Craniocervical Junction - A Distinctive Subgroup of Meningiomas
Dührsen, L., Emami, P., Matschke, J., Abboud, T., Westphal, M. & Regelsberger, J., 2016, In: PLOS ONE. 11, 4, p. e0153405Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Secretory pathway retention of mutant prion protein induces p38-MAPK activation and lethal disease in mice
Puig Martorell, B., Altmeppen, H. C., Ulbrich, S., Linsenmeier, L., Krasemann, S., Chakroun, K., Acevedo-Morantes, C. Y., Wille, H., Tatzelt, J. & Glatzel, M., 2016, In: SCI REP-UK. 6, p. 24970Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Towards a Tissue-Engineered Contractile Fontan-Conduit: The Fate of Cardiac Myocytes in the Subpulmonary Circulation
Biermann, D., Eder, A., Arndt, F., Seoudy, H., Reichenspurner, H., Mir, T., Riso, A., Kozlik-Feldmann, R., Peldschus, K., Kaul, M. G., Schuler, T., Krasemann, S., Hansen, A., Eschenhagen, T. & Sachweh, J. S., 2016, In: PLOS ONE. 11, 11, p. e0166963Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2015
Unilateral gynaecomastia in a 16-month-old boy with neurofibromatosis type 1 - case report and brief review of the literature
Friedrich, R. E., Hagel, C. & Mautner, V-F., 03.12.2015, In: GMS INTERDISCIP PLAS. 4, p. Doc11Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Distribution and prognostic relevance of tumor-infiltrating lymphocytes (TILs) and PD-1/PD-L1 immune checkpoints in human brain metastases
Harter, P. N., Bernatz, S., Scholz, A., Zeiner, P. S., Zinke, J., Kiyose, M., Blasel, S., Beschorner, R., Senft, C., Bender, B., Ronellenfitsch, M. W., Wikman-Kocher, H., Glatzel, M., Meinhardt, M., Juratli, T. A., Steinbach, J. P., Plate, K. H., Wischhusen, J., Weide, B. & Mittelbronn, M., 12.2015, In: ONCOTARGET. 6, 38, p. 40836-40849Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ipsilateral Sphenoid Wing Dysplasia, Orbital Plexiform Neurofibroma and Fronto-Parietal Dermal Cylindroma in a Patient with Segmental Neurofibromatosis
Friedrich, R. E., Hagel, C. & Mautner, V-F., 12.2015, In: ANTICANCER RES. 35, 12, p. 6813-8 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Vascular Innervation in Benign Neurofibromas of Patients with Neurofibromatosis Type 1
Friedrich, R. E., Behrendt, C-A., Glatzel, M. & Hagel, C., 12.2015, In: ANTICANCER RES. 35, 12, p. 6509-6516 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comment on "Primary Central Nervous System (CNS) Lymphoma B Cell Receptors Recognize CNS Proteins"
Spies, E., Fichtner, M., Müller, F., Krasemann, S., Illerhaus, G., Glatzel, M., Binder, M. & Trepel, M., 15.11.2015, In: J IMMUNOL. 195, 10, p. 4549-50 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Qualitative changes in human γ-secretase underlie familial Alzheimer's disease
Szaruga, M., Veugelen, S., Benurwar, M., Lismont, S., Sepulveda-Falla, D., Lleo, A., Ryan, N. S., Lashley, T., Fox, N. C., Murayama, S., Gijsen, H., De Strooper, B. & Chávez-Gutiérrez, L., 19.10.2015, In: J EXP MED. 212, 12, p. 2003-2013Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A 19-Year-Old Male with an Intraventricular Tumor Disseminated anaplastic hemangiopericytoma WHO grade III/solitary fibrous tumor, cellular type
Krajewski, K. L., Matschke, J., Humke, N., Wolfgang, B., Westphal, M. & Schmidt, N. O., 09.2015, BRAIN PATHOLOGY. 657-658 ed. Vol. 25.Research output: SCORING: Contribution to book/anthology › Other › Research
Vessel and Mast Cell Densities in Sporadic and Syndrome-associated Peripheral Nerve Sheath Tumors
Friedrich, R. E., Naber, U., Glatzel, M. & Hagel, C., 09.2015, In: ANTICANCER RES. 35, 9, p. 4713-22 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Foreign Body Abscess Mimicking a Malignant Peripheral Nerve Sheath Tumor in a Patient With Neurofibromatosis Type 1
Salamon, J., Hagel, C., Friedrich, R. E., Mautner, V-F. & Derlin, T., 08.2015, In: CLIN NUCL MED. 40, 8, p. 674-675Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Localization of SHH medulloblastoma in mice depends on the age at its initiation
Ohli, J., Neumann, J. E., Grammel, D. & Schüller, U., 08.2015, In: ACTA NEUROPATHOL. 130, 2, p. 307-9 3 p.Research output: SCORING: Contribution to journal › Newspaper articles › Transfer
Malignancy-associated haemophagocytic lymphohistiocytosis in children and adolescents
Lehmberg, K., Sprekels, B., Nichols, K. E., Woessmann, W., Müller, I., Suttorp, M., Bernig, T., Beutel, K., Bode, S. F. N., Kentouche, K., Kolb, R., Längler, A., Minkov, M., Schilling, F. H., Schmid, I., Vieth, S., Ehl, S., Zur Stadt, U. & Janka, G. E., 08.2015, In: BRIT J HAEMATOL. 170, 4, p. 539-49 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biological Relevance and Therapeutic Potential of the Hypusine Modification System
Pallmann, N., Braig, M., Sievert, H., Preukschas, M., Hermans-Borgmeyer, I., Schweizer, M., Nagel, C. H., Neumann, M., Wild, P., Haralambieva, E., Hagel, C., Bokemeyer, C., Hauber, J. & Balabanov, S., 02.06.2015, In: J BIOL CHEM. 290, 30, p. 18343-18360Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)
Henkes, M., Finke, J., Warnatz, K., Ammann, S., Stadt, U. Z., Janka-Schaub, G. & Brugger, W., 06.2015, In: ANN HEMATOL. 94, 6, p. 1057-60 4 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Printed peptide arrays identify prognostic TNC serumantibodies in glioblastoma patients
Mock, A., Warta, R., Geisenberger, C., Bischoff, R., Schulte, A., Lamszus, K., Stadler, V., Felgenhauer, T., Schichor, C., Schwartz, C., Matschke, J., Jungk, C., Ahmadi, R., Sahm, F., Capper, D., Glass, R., Tonn, J-C., Westphal, M., von Deimling, A., Unterberg, A., Bermejo, J. L. & Herold-Mende, C., 12.04.2015, In: ONCOTARGET. 6, 15, p. 13576-13590Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A pitfall in diagnosing Cushing's disease: ectopic ACTH-producing pituitary adenoma in the sphenoid sinus
Flitsch, J., Schmid, S. M., Bernreuther, C., Winterberg, B., Ritter, M. M., Lehnert, H. & Burkhardt, T., 01.04.2015, In: PITUITARY. 18, 2, p. 279-82 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Molecular classification of diffuse cerebral WHO grade II/III gliomas using genome- and transcriptome-wide profiling improves stratification of prognostically distinct patient groups
Weller, M., Weber, R. G., Willscher, E., Riehmer, V., Hentschel, B., Kreuz, M., Felsberg, J., Beyer, U., Löffler-Wirth, H., Kaulich, K., Steinbach, J. P., Hartmann, C., Gramatzki, D., Schramm, J., Westphal, M., Schackert, G., Simon, M., Martens, T., Boström, J., Hagel, C., Sabel, M., Krex, D., Tonn, J. C., Wick, W., Noell, S., Schlegel, U., Radlwimmer, B., Pietsch, T., Loeffler, M., von Deimling, A., Binder, H. & Reifenberger, G., 18.03.2015, In: ACTA NEUROPATHOL. 129, 5, p. 679-693Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term vestibulocochlear functional outcome following retro-sigmoid approach to resection of vestibular schwannoma
Abboud, T., Regelsberger, J., Matschke, J., Jowett, N., Westphal, M. & Dalchow, C., 21.02.2015, In: EUR ARCH OTO-RHINO-L. 273, 3, p. 719-725Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cerebral Palsy: A Lifelong Challenge Asks for Early Intervention
Panteliadis, C. P., Hagel, C., Karch, D. & Heinemann, K., 01.01.2015, In: Open Neurol J. 9, p. 45-52 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Encephalopathy and death in infants with abusive head trauma is due to hypoxic-ischemic injury following local brain trauma to vital brainstem centers
Matschke, J., Büttner, A., Bergmann, M., Hagel, C., Püschel, K. & Glatzel, M., 01.01.2015, In: INT J LEGAL MED. 129, 1, p. 105-14 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Erratum to: Encephalopathy and death in infants with abusive head trauma is due to hypoxic-ischemic injury following local brain trauma to vital brainstem centers
Matschke, J., Büttner, A., Bergmann, M., Hagel, C., Püschel, K. & Glatzel, M., 01.01.2015, In: INT J LEGAL MED. 129, 1, p. 115-6 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
Farschtschi, S., Mautner, V-F., Hollants, S., Hagel, C., Spaepen, M., Schulte, C., Legius, E. & Brems, H., 01.01.2015, In: BMC MED GENET. 16, 1, p. 6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The sheddase ADAM10 is a potent modulator of prion disease
Altmeppen, H. C., Prox, J., Krasemann, S., Puig Martorell, B., Kruszewski, K., Dohler, F., Bernreuther, C., Hoxha, A., Linsenmeier, L., Sikorska, B., Liberski, P. P., Bartsch, U., Saftig, P. & Glatzel, M., 01.01.2015, In: ELIFE. 4Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Vascular endothelial growth factor, basic fibroblast growth factor and epithelial growth factor receptor in peripheral nerve sheath tumors of neurofibromatosis type 1
Friedrich, R. E., Beer, C., Glatzel, M. & Hagel, C., 01.01.2015, In: ANTICANCER RES. 35, 1, p. 137-44 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice
Papadopoulou, A. S., Serneels, L., Achsel, T., Mandemakers, W., Callaerts-Vegh, Z., Dooley, J., Lau, P., Ayoubi, T., Radaelli, E., Spinazzi, M., Neumann, M., Hébert, S. S., Silahtaroglu, A., Liston, A., D'Hooge, R., Glatzel, M. & De Strooper, B., 01.2015, In: NEUROBIOL DIS. 73, p. 275-288 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutations in the deubiquitinase gene USP8 cause Cushing's disease
Reincke, M., Sbiera, S., Hayakawa, A., Theodoropoulou, M., Osswald, A., Beuschlein, F., Meitinger, T., Mizuno-Yamasaki, E., Kawaguchi, K., Saeki, Y., Tanaka, K., Wieland, T., Graf, E., Saeger, W., Ronchi, C. L., Allolio, B., Buchfelder, M., Strom, T. M., Fassnacht, M. & Komada, M., 01.2015, In: NAT GENET. 47, 1, p. 31-8 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Targeting miR-155 restores abnormal microglia and attenuates disease in SOD1 mice
Butovsky, O., Jedrychowski, M. P., Cialic, R., Krasemann, S., Murugaiyan, G., Fanek, Z., Greco, D. J., Wu, P. M., Doykan, C. E., Kiner, O., Lawson, R. J., Frosch, M. P., Pochet, N., Fatimy, R. E., Krichevsky, A. M., Gygi, S. P., Lassmann, H., Berry, J., Cudkowicz, M. E. & Weiner, H. L., 01.2015, In: ANN NEUROL. 77, 1, p. 75-99 25 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Histological criteria for atypical pituitary adenomas - data from the German pituitary adenoma registry suggests modifications
Miermeister, C. P., Petersenn, S., Buchfelder, M., Fahlbusch, R., Lüdecke, D. K., Hölsken, A., Bergmann, M., Knappe, H. U., Hans, V. H., Flitsch, J., Saeger, W. & Buslei, R., 2015, In: ACTA NEUROPATHOL COM. 3, p. 50Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Shedding light on prion disease
Glatzel, M., Linsenmeier, L., Dohler, F., Krasemann, S., Puig Martorell, B. & Altmeppen, H. C., 2015, In: PRION. 9, 4, p. 244-256Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2014
Inhibition of intracerebral glioblastoma growth by targeting the insulin-like growth factor 1 receptor involves different context-dependent mechanisms
Zamykal, M., Martens, T., Matschke, J., Günther, H. S., Kathagen, A., Schulte, A., Peters, R., Westphal, M. & Lamszus, K., 27.12.2014, In: NEURO-ONCOLOGY.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy
Löbel, U., Schweser, F., Nickel, M., Deistung, A., Grosse, R., Hagel, C., Fiehler, J., Schulz, A., Hartig, M., Reichenbach, J. R., Kohlschütter, A. & Sedlacik, J., 01.12.2014, In: ANN CLIN TRANSL NEUR. 1, 12, p. 1041-6 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transient receptor potential melastatin subfamily member 2 cation channel regulates detrimental immune cell invasion in ischemic stroke
Gelderblom, M., Melzer, N., Schattling, B., Göb, E., Hicking, G., Arunachalam, P., Bittner, S., Ufer, F., Herrmann, A. M., Bernreuther, C., Glatzel, M., Gerloff, C., Kleinschnitz, C., Meuth, S. G., Friese, M. A. & Magnus, T., 01.11.2014, In: STROKE. 45, 11, p. 3395-3402 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance
Rothaug, M., Zunke, F., Mazzulli, J. R., Schweizer, M., Altmeppen, H., Lüllmann-Rauch, R., Kallemeijn, W. W., Gaspar, P., Aerts, J. M., Glatzel, M., Saftig, P., Krainc, D., Schwake, M. & Blanz, J., 28.10.2014, In: P NATL ACAD SCI USA. 111, 43, p. 15573-8 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Molecular characterization of long-term survivors of glioblastoma using genome- and transcriptome-wide profiling
Reifenberger, G., Weber, R. G., Riehmer, V., Kaulich, K., Willscher, E., Wirth, H., Gietzelt, J., Hentschel, B., Westphal, M., Simon, M., Schackert, G., Schramm, J., Matschke, J., Sabel, M. C., Gramatzki, D., Felsberg, J., Hartmann, C., Steinbach, J. P., Schlegel, U., Wick, W., Radlwimmer, B., Pietsch, T., Tonn, J. C., von Deimling, A., Binder, H., Weller, M., Loeffler, M. & German Glioma Network, 15.10.2014, In: INT J CANCER. 135, 8, p. 1822-31 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Unexplained Loss of Vision in a Child: Consider Bilateral Primary Optic Nerve Sheath Meningioma
Nickel, M., Löbel, U., Holst, B., Kammler, G., Matschke, J., Schulz, A. & Kohlschütter, A., 01.10.2014, In: NEUROPEDIATRICS. 45, 5, p. 321-4 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dissemination of Orientia tsutsugamushi and inflammatory responses in a murine model of scrub typhus
Keller, C., Hauptmann, M., Kolbaum, J., Gharaibeh, M., Neumann, M., Glatzel, M. & Fleischer, B., 01.08.2014, In: PLOS NEGLECT TROP D. 8, 8, p. e3064Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hematogenous dissemination of glioblastoma multiforme
Müller, C., Holtschmidt, J., Auer, M., Heitzer, E., Lamszus, K., Schulte, A., Matschke, J., Langer-Freitag, S., Gasch, C., Stoupiec, M., Mauermann, O., Peine, S., Glatzel, M., Speicher, M. R., Geigl, J. B., Westphal, M., Pantel, K. & Riethdorf, S., 30.07.2014, In: SCI TRANSL MED. 6, 247, p. 247ra101Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Upregulation of Shiga toxin Receptor CD77/Gb3 and Interleukin-1β Expression in Brain of EHEC Patients with Hemolytic Uremic Syndrome and Neurologic Symptoms
Hagel, C., Krasemann, S., Löffler, J., Püschel, K., Magnus, T. & Glatzel, M., 02.07.2014, In: BRAIN PATHOL. 25, 2, p. 146-156Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency
Ammann, S., Elling, R., Gyrd-Hansen, M., Dückers, G., Bredius, R., Burns, S. O., Edgar, J. D. M., Worth, A., Brandau, H., Warnatz, K., Zur Stadt, U., Hasselblatt, P., Schwarz, K., Ehl, S. & Speckmann, C., 01.06.2014, In: CLIN EXP IMMUNOL. 176, 3, p. 394-400 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
"Shaken baby syndrome" and forensic pathology
Sperhake, J. P. & Matschke, J., 01.06.2014, In: FORENSIC SCI MED PAT. 10, 2, p. 251-2 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Subgroup-specific localization of human medulloblastoma based on pre-operative MRI
Wefers, A. K., Warmuth-Metz, M., Pöschl, J., von Bueren, A. O., Monoranu, C-M., Seelos, K., Peraud, A., Tonn, J-C., Koch, A., Pietsch, T., Herold-Mende, C., Mawrin, C., Schouten-van Meeteren, A., van Vuurden, D., von Hoff, K., Rutkowski, S., Pfister, S. M., Kool, M. & Schüller, U., 01.06.2014, In: ACTA NEUROPATHOL. 127, 6, p. 931-3 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Evaluation of Antiviral Efficacy of Ribavirin, Arbidol, and T-705 (Favipiravir) in a Mouse Model for Crimean-Congo Hemorrhagic Fever
Oestereich, L., Rieger, T., Neumann, M., Bernreuther, C., Lehmann, M., Krasemann, S., Wurr, S., Emmerich, P., de Lamballerie, X., Ölschläger, S. & Günther, S., 01.05.2014, In: PLOS NEGLECT TROP D. 8, 5, p. e2804Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
Karaca, E., Weitzer, S., Pehlivan, D., Shiraishi, H., Gogakos, T., Hanada, T., Jhangiani, S. N., Wiszniewski, W., Withers, M., Campbell, I. M., Erdin, S., Isikay, S., Franco, L. M., Gonzaga-Jauregui, C., Gambin, T., Gelowani, V., Hunter, J. V., Yesil, G., Koparir, E., Yilmaz, S., Brown, M., Briskin, D., Hafner, M., Morozov, P., Farazi, T. A., Bernreuther, C., Glatzel, M., Trattnig, S., Friske, J., Kronnerwetter, C., Bainbridge, M. N., Gezdirici, A., Seven, M., Muzny, D. M., Boerwinkle, E., Ozen, M., Clausen, T., Tuschl, T., Yuksel, A., Hess, A., Gibbs, R. A., Martinez, J., Penninger, J. M., Lupski, J. R. & Baylor Hopkins Center for Mendelian Genomics, 24.04.2014, In: CELL. 157, 3, p. 636-650 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review