Institute of Human Genetics
Publications
- 2022
Clinical and pathological characteristics of familial melanoma with germline TERT promoter variants
Zaremba, A., Meier, F., Schlein, C., Jansen, P., Lodde, G., Song, M., Kretz, J., Möller, I., Stadtler, N., Livingstone, E., Zimmer, L., Hadaschik, E., Sucker, A., Schadendorf, D. & Griewank, K., 11.2022, In: PIGM CELL MELANOMA R. 35, 6, p. 573-586 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer
Kirchner, K., Gamulin, M., Kulis, T., Sievers, B., Kastelan, Z. & Lessel, D., 27.10.2022, In: GENES-BASEL. 13, 11, 1955.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Tibbe, D., Ferle, P., Krisp, C., Nampoothiri, S., Mirzaa, G., Assaf, M., Parikh, S., Kutsche, K. & Kreienkamp, H-J., 10.2022, In: LIFE SCI ALLIANCE. 5, 10, e202201512.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Apoptotic brown adipocytes enhance energy expenditure via extracellular inosine
Niemann, B., Haufs-Brusberg, S., Puetz, L., feickert, M., Jaeckstein, M. Y., Hoffmann, A., Zurkovic, J., Heine, M., Trautmann, E-M., Müller, CE., Tönies, A., Schlein, C., Jafari, A., Eltzsching, H. K., Gnad, T., Blüher, M., Krahmer, N., Kovacs, P., Heeren, J. & Pfeifer, A., 08.09.2022, In: NATURE. 609, 7926, p. 361–368 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Association study between polymorphisms in DNA methylation-related genes and testicular germ cell tumor risk
Grasso, C., Popovic, M., Isaevska, E., Lazzarato, F., Fiano, V., Zugna, D., Pluta, J., Weathers, B., D'Andrea, K., Almstrup, K., Anson-Cartwright, L., Bishop, D. T., Chanock, S. J., Chen, C., Cortessis, V. K., Dalgaard, M. D., Daneshmand, S., Ferlin, A., Foresta, C., Frone, M. N., Gamulin, M., Gietema, J. A., Greene, M. H., Grotmol, T., Hamilton, R. J., Haugen, T. B., Hauser, R., Karlsson, R., Kiemeney, L. A., Lessel, D., Lista, P., Lothe, R. A., Loveday, C., Meijer, C., Nead, K. T., Nsengimana, J., Skotheim, R. I., Turnbull, C., Vaughn, D. J., Wiklund, F., Zheng, T., Zitella, A., Schwartz, S. M., McGlynn, K. A., Kanetsky, P. A., Nathanson, K. L. & Richiardi, L., 02.09.2022, In: CANCER EPIDEM BIOMAR. 31, 9, p. 1769-1779 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
Lindsey-Temple, S., Edwards, M., Rickassel, V., Nauth, T. & Rosenberger, G., 09.2022, In: EUR J HUM GENET. 30, 9, p. 1088-1093 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Holling, T., Lisfeld, J., Johannsen, J., Matschke, J., Song, F., Altmeppen, H. C. & Kutsche, K., 09.2022, In: HUM MUTAT. 43, 9, p. 1224-1233 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
Seiffert, S., Pendziwiat, M., Bierhals, T., Goel, H., Schwarz, N., van der Ven, A., Boßelmann, C. M., Lemke, J., Syrbe, S., Willemsen, M. H., Hedrich, U. B. S., Helbig, I. & Weber, Y., 09.2022, In: EBIOMEDICINE. 83, 104234.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
Dahimene, S., von Elsner, L., Holling, T., Mattas, L. S., Pickard, J., Lessel, D., Pilch, K. S., Kadurin, I., Pratt, W. S., Zhulin, I. B., Dai, H., Hempel, M., Ruzhnikov, M. R. Z., Kutsche, K. & Dolphin, A. C., 27.08.2022, In: BRAIN. 145, 8, p. 2721-2729 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
Bauer, C. K., Holling, T., Horn, D., Laço, M. N., Abdalla, E., Omar, O. M., Alawi, M. & Kutsche, K., 26.08.2022, In: INT J MOL SCI. 23, 17, 9690.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy - Addendum
Prondzynski, M., Lemoine, M. D., Zech, A. T., Horváth, A., Di Mauro, V., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., Schlossarek, S., Spohn, M., Friedrich, F. W., Münch, J., Laufer, S. D., Redwood, C., Volk, A. E., Hansen, A., Mearini, G., Catalucci, D., Meyer, C., Christ, T., Patten, M., Eschenhagen, T. & Carrier, L., 08.08.2022, In: EMBO MOL MED. 14, 8, e16423.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature
Kloth, K., Klohs, S., Bhullar, J., Boettcher, M., Hempel, M., Trah, J. & Reinshagen, K., 01.08.2022, In: EUR J PEDIATR SURG. 32, 4, p. 316-320 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
Abdalla, E., Alawi, M., Meinecke, P., Kutsche, K. & Harms, F. L., 08.2022, In: AM J MED GENET A. 188, 8, p. 2448-2453 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load
Thievessen, I., Suhr, F., Vergarajauregui, S., Böttcher, R. T., Brixius, K., Rosenberger, G., Dewald, O., Fleischmann, B. K., Ghanem, A., Krüger, M., Engel, F. B., Fabry, B., Bloch, W. & Fässler, R., 25.07.2022, In: CURR BIOL. 32, 14, p. 3033-3047.e9Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B-J., Dubois, S., Collin-Deschesnes, A-C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M. A., Allen, J., Altmüller, J., Arnold, N., Ausems, M. G. E. M., Berutti, R., Bolla, M. K., Bull, S., Carvalho, S., Cornelissen, S., Dufault, M. R., Dunning, A. M., Engel, C., Gehrig, A., Geurts-Giele, W. R. R., Gieger, C., Green, J., Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Horváth, J., Ikram, M. A., Kaulfuß, S., Keeman, R., Kuang, D., Luccarini, C., Maier, W., Martens, J. W. M., Niederacher, D., Nürnberg, P., Ott, C-E., Peters, A., Pharoah, P. D. P., Ramirez, A., Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stäbler, A., Strom, T. M., Sutter, C., Thiele, H., van Asperen, C. J., van der Kolk, L., van der Luijt, R. B., Volk, A. E., Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B. H. F., Genome Of The Netherlands Project, Ghs Study Group, Devilee, P., Tavtigian, S., Bader, G. D., Meindl, A., Goldgar, D. E., Andrulis, I. L., Schmutzler, R. K., Easton, D. F., Schmidt, M. K., Hahnen, E. & Simard, J., 11.07.2022, In: CANCERS. 14, 14, 3363.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Alves, C. A. P. F., Sherbini, O., D'Arco, F., Steel, D., Kurian, M. A., Radio, F. C., Ferrero, G. B., Carli, D., Tartaglia, M., Balci, T. B., Powell-Hamilton, N. N., Schrier Vergano, S. A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E. R., Littlejohn, R. O., Lessel, D., Lüttgen, S., Kentros, C., Anyane-Yeboa, K., Catarino, C. B., Mercimek-Andrews, S., Denecke, J., Lyons, M. J., Klopstock, T., Bhoj, E. J., Bryant, L. & Vanderver, A., 07.2022, In: AM J NEURORADIOL. 43, 7, p. 1048-1053 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pan-segmental intraprostatic lesions involving mid-gland and apex of prostate (mid-apical lesions): assessing the true value of extreme apical biopsy cores
Leyh-Bannurah, S-R., Boiko, S., Beyersdorff, D., Falkenbach, F., Ekrutt, J., Maurer, T., Graefen, M., Kachanov, M. & Budäus, L., 07.2022, In: WORLD J UROL. 40, 7, p. 1653-1659 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
Manivannan, S. N., Roovers, J., Smal, N., Myers, C. T., Turkdogan, D., Roelens, F., Kanca, O., Chung, H-L., Scholz, T., Hermann, K., Bierhals, T., Caglayan, H. S., Stamberger, H., MAE Working Group of EuroEPINOMICS RES Consortium, Mefford, H., de Jonghe, P., Yamamoto, S., Weckhuysen, S. & Bellen, H. J., 03.06.2022, In: BRAIN. 145, 5, p. 1684-1697 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of obesity on perioperative, functional and oncological outcomes after robotic-assisted radical prostatectomy in a high-volume center
Sarychev, S., Witt, J. H., Wagner, C., Oelke, M., Schuette, A., Liakos, N., Karagiotis, T., Mendrek, M., Kachanov, M., Graefen, M., Vetterlein, M. W., Meyer, C. P., Tian, Z. & Leyh-Bannurah, S-R., 06.2022, In: WORLD J UROL. 40, 6, p. 1419-1425 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research
Predictive genetic testing for Motor neuron disease: time for a guideline?
McNeill, A., Amador, M-D-M., Bekker, H., Clarke, A., Crook, A., Cummings, C., McEwen, A., McDermott, C., Quarrell, O., Renieri, A., Roggenbuck, J., Salmon, K., Volk, A., Weishaupt, J. & International Alliance of ALS/MND Associations, 06.2022, In: EUR J HUM GENET. 30, 6, p. 635-636 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Serum GFAP differentiates Alzheimer's disease from frontotemporal dementia and predicts MCI-to-dementia conversion
Oeckl, P., Anderl-Straub, S., Von Arnim, C. A. F., Baldeiras, I., Diehl-Schmid, J., Grimmer, T., Halbgebauer, S., Kort, A. M., Lima, M., Marques, T. M., Ortner, M., Santana, I., Steinacker, P., Verbeek, M. M., Volk, A. E., Ludolph, A. C. & Otto, M., 27.05.2022, In: J NEUROL NEUROSUR PS. 93, p. 659-667 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
von Elsner, L., Chai, G., Schneeberger, P. E., Harms, F. L., Casar, C., Qi, M., Alawi, M., Abdel-Salam, G. M. H., Zaki, M. S., Arndt, F., Yang, X., Stanley, V., Hempel, M., Gleeson, J. G. & Kutsche, K., 24.05.2022, In: BRAIN. 145, 4, p. 1551-1563 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
Holling, T., Bhavani, G. S., von Elsner, L., Shah, H., Kausthubham, N., Bhattacharyya, S. S., Shukla, A., Mortier, G. R., Schinke, T., Danyukova, T., Pohl, S., Kutsche, K. & Girisha, K. M., 05.2022, In: HUM MUTAT. 43, 5, p. 625-642 18 p.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
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M., Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., 05.2022, In: CLIN GENET. 102, 2, p. 98-109 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Werner syndrome in a Lebanese family
Jaafar, B., Nasrallah, M., Sievers, B., Oshima, J. & Lessel, D., 05.2022, In: AM J MED GENET A. 188, 5, p. 1630-1634 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Intake Patterns of Specific Alcoholic Beverages by Prostate Cancer Status
Lin, H-Y., Tseng, T-S., Wang, X., Fang, Z., Zea, A. H., Wang, L., Pow-Sang, J., Tangen, C. M., Goodman, P. J., Wolk, A., Håkansson, N., Kogevinas, M., Llorca, J., Brenner, H., Schöttker, B., Castelao, J. E., Gago-Dominguez, M., Gamulin, M., Lessel, D., Claessens, F., Joniau, S., The Practical Consortium & Park, J. Y., 14.04.2022, In: CANCERS. 14, 8, 1981.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cold-Induced Lipoprotein Clearance in Cyp7b1-Deficient Mice
Evangelakos, I., Kuhl, A., Baguhl, M., Schlein, C., John, C., Rohde, J. K., Heine, M. & Worthmann, A-F., 11.04.2022, In: FRONT CELL DEV BIOL. 10, 10, p. 836741 836741.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T., Krylova, T. D., Lamperti, C., Lenz, D., Makowski, C., Mosegaard, S., Müller, M. F., Muñoz-Pujol, G., Nadel, A., Ohtake, A., Okazaki, Y., Procopio, E., Schwarzmayr, T., Smet, J., Staufner, C., Stenton, S. L., Strom, T. M., Terrile, C., Tort, F., Van Coster, R., Vanlander, A., Wagner, M., Xu, M., Fang, F., Ghezzi, D., Mayr, J. A., Piekutowska-Abramczuk, D., Ribes, A., Rötig, A., Taylor, R. W., Wortmann, S. B., Murayama, K., Meitinger, T., Gagneur, J. & Prokisch, H., 05.04.2022, In: GENOME MED. 14, 1, 38.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
Holling, T., Nampoothiri, S., Tarhan, B., Schneeberger, P. E., Vinayan, K. P., Yesodharan, D., Roy, A. G., Radhakrishnan, P., Alawi, M., Rhodes, L., Girisha, K. M., Kang, P. B. & Kutsche, K., 04.2022, In: EUR J HUM GENET. 30, 4, p. 439-449 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
PIGN encephalopathy: Characterizing the epileptology
Bayat, A., de Valles-Ibáñez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., des Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M. S., Jezela-Stanek, A., Jouk, P-S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J. R., Li, H., Martinez, F., Maxton, C., Mefford, H. C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L. E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E. M. C., Stegmann, A. P. A., Stumpel, C. T., Szczepanik, E., Terczyńska, I., Thevenon, J., Tzschach, A., Van Bogaert, P., Vittorini, R., Walsh, S., Weckhuysen, S., Weissman, B., Wolfe, L., Reymond, A., De Nittis, P., Poduri, A., Olson, H., Striano, P., Lesca, G., Scheffer, I. E., Møller, R. S. & Sadleir, L. G., 04.2022, In: EPILEPSIA. 63, 4, p. 974-991 18 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
Demal, T. J., Scholz, T., Schüler, H., Olfe, J., Fröhlich, A., Speth, F., von Kodolitsch, Y., Mir, T. S., Reichenspurner, H., Kubisch, C., Hempel, M. & Rosenberger, G., 16.03.2022, In: SCI REP-UK. 12, 1, p. 4489Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation
Merkens, L., Sailer, V., Lessel, D., Janzen, E., Greimeier, S., Kirfel, J., Perner, S., Pantel, K., Werner, S. & von Amsberg, G., 02.02.2022, In: J EXP CLIN CANC RES. 41, 1, 46.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp, H-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M. & Lessel, D., 02.2022, In: HUM GENET. 141, 2, p. 257-272 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
Keil, L., Berisha, F., Knappe, D., Kubisch, C., Shoukier, M., Kirchhof, P., Fabritz, L., Hellenbroich, Y., Woitschach, R. & Magnussen, C., 19.01.2022, In: GENES-BASEL. 13, 2, 169.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders
Woike, D., Wang, E., Tibbe, D., Hassani Nia, F., Failla, A. V., Kibæk, M., Overgård, T. M., Larsen, M. J., Fagerberg, C. R., Barsukov, I. & Kreienkamp, H-J., 18.01.2022, In: SCI REP-UK. 12, 1, 902.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
Lessel, D., Rading, K., Campbell, S. E., Thiele, H., Altmüller, J., Gordon, L. B. & Kubisch, C., 01.2022, In: AM J MED GENET A. 188, 1, p. 216-223 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2021
Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen: Aktueller Stand, Herausforderungen, Perspektiven
Scholz, T., Dufke, A., Haack, T., Elbracht, M., Eggermann, T., Roggia, C., Riess, O., Kurth, I. & Hempel, M., 06.12.2021, In: MONATSSCHR KINDERH. 170, p. 21-28 8 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo, G., Westermann, L. M., Schinke, T., Stürznickel, J., Ludwig, N. F., Ammer, L. S., Baranowsky, A., Ahmadi, S., Pourbarkhordariesfandabadi, E., Breyer, S. R., Board, T. N., Foster, A., Mercer, J., Tylee, K., Velho, R. V., Schweizer, M., Renné, T., Braulke, T., Randon, D. N., Sperb-Ludwig, F., de Camargo Pinto, L. L., Moreno, C. A., Cavalcanti, D. P., Amling, M., Kutsche, K., Winter, D., Muschol, N. M., Schwartz, I. V. D., Rolvien, T., Danyukova, T., Schinke, T. & Pohl, S., 12.2021, In: GENET MED. 23, 12, p. 2369-2377 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
SHANK3 conformation regulates direct actin binding and crosstalk with Rap1 signaling
Salomaa, S. I., Miihkinen, M., Kremneva, E., Paatero, I., Lilja, J., Jacquemet, G., Vuorio, J., Antenucci, L., Kogan, K., Hassani Nia, F., Hollos, P., Isomursu, A., Vattulainen, I., Coffey, E. T., Kreienkamp, H-J., Lappalainen, P. & Ivaska, J., 22.11.2021, In: CURR BIOL. 31, 22, p. 4956-4970.e9Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
Zhang, Y., Tachtsidis, G., Schob, C., Koko, M., Hedrich, U. B. S., Lerche, H., Lemke, J. R., van Haeringen, A., Ruivenkamp, C., Prescott, T., Tveten, K., Gerstner, T., Pruniski, B., DiTroia, S., VanNoy, G. E., Rehm, H. L., McLaughlin, H., Bolz, H. J., Zechner, U., Bryant, E., McDonough, T., Kindler, S. & Bähring, R., 16.11.2021, In: HUM MOL GENET. 30, 23, p. 2300-2314 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
Schob, C., Hempel, M., Brozkova, D. S., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Meszarosova, A. U., Chae, J-H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S. & Denecke, J., 11.2021, In: ANN NEUROL. 90, 5, p. 738-750 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Golgi-Associated PDZ Domain Protein Gopc/PIST Is Required for Synaptic Targeting of mGluR5.
Klüssendorf, M., Song, I., Schau, L., Morellini, F., Dityatev, A., Koliwer, J. & Kreienkamp, H-J., 11.2021, In: MOL NEUROBIOL. 58, 11, p. 5618–5634 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
Blomen, C. L., Pott, A., Volk, A. E., Budäus, L. & Witzel, I., 11.10.2021, In: SCI REP-UK. 11, 1, p. 20178Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth, K., Lozic, B., Tagoe, J., Hoffer, M. J. V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P. Y. B., Denecke, J., Bijlsma, E. K. & Lessel, D., 10.2021, In: NEUROGENETICS. 22, 4, p. 263-269 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinico-genetic findings in 509 frontotemporal dementia patients
Wagner, M., Lorenz, G., Volk, A. E., Brunet, T., Edbauer, D., Berutti, R., Zhao, C., Anderl-Straub, S., Bertram, L., Danek, A., Deschauer, M., Dill, V., Fassbender, K., Fliessbach, K., Götze, K. S., Jahn, H., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Obrig, H., Prudlo, J., Schneider, A., Schroeter, M. L., Uttner, I., Vukovich, R., Wiltfang, J., Winkler, A. S., Zhou, Q., Ludolph, A. C., German FTLD Consortium, Oexle, K., Otto, M., Diehl-Schmid, J. & Winkelmann, J., 10.2021, In: MOL PSYCHIATR. 26, 10, p. 5824-5832 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Melo, U. S., Piard, J., Fischer-Zirnsak, B., Klever, M-K., Schöpflin, R., Mensah, M. A., Holtgrewe, M., Arbez-Gindre, F., Martin, A., Guigue, V., Gaillard, D., Landais, E., Roze, V., Kremer, V., Ramanah, R., Cabrol, C., Harms, F. L., Kornak, U., Spielmann, M., Mundlos, S. & Van Maldergem, L., 10.2021, In: HUM GENET. 140, 10, p. 1459-1469 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Quantifying progression in primary progressive aphasia with structural neuroimaging
Lombardi, J., Mayer, B., Semler, E., Anderl-Straub, S., Uttner, I., Kassubek, J., Diehl-Schmid, J., Danek, A., Levin, J., Fassbender, K., Fliessbach, K., Schneider, A., Huppertz, H-J., Jahn, H., Volk, A., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Prudlo, J., Wiltfang, J., Schroeter, M. L., Ludolph, A., Otto, M. & FTLD consortium, 10.2021, In: ALZHEIMERS DEMENT. 17, 10, p. 1595-1609 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome
Schoof, M., Kordes, U., Volk, A. E., Al-Kershi, S., Kresbach, C. & Schüller, U., 09.2021, In: ACTA NEUROPATHOL. 142, 3, p. 591-593 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research