A complete and always up-to-date list can be found at Google Scholar.

Ahting, S., Popp, D., Oppermann, H., Strehlow, V., Fasshauer, M., Popp, B., Karnstedt, M., & Schumann, I. (2023). Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti [Preprint]. Genetic; Genomic Medicine. https://doi.org/10.1101/2023.09.26.23295778
Amin, M., Serriere-Lanneau, V., Olry, A., Zweier, C., Chevrollier, N., Hugon, A., Popp, B., Ali, H., Lucano, C., Rath, A., & Verloes, A. (2023). Orphaid: A New Platform for Rare Genetic Intellectual Disabilities in Orphanet in Partnership with Ernithaca [Preprint]. SSRN. https://doi.org/10.2139/ssrn.4477149
Bartolomaeus, T., Hentschel, J., Jamra, R. A., & Popp, B. (2023). Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%. European Journal of Human Genetics, 31(10), 1154–1164. https://doi.org/10.1038/s41431-023-01425-6
Bosch, E., Popp, B., Güse, E., Skinner, C., Van Der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., De Marco, P., Ognibene, M., Abou Jamra, R., Platzer, K., Carter, L. B., Kuismin, O., Van Haeringen, A., Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J. A., Rabani, A. M., Mefford, H. C., Pereira, E. M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M. C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P. T., McGinnis, E., Millichap, J., Van De Kamp, J. M., Prijoles, E. J., Dobson, A., Shillington, A., Graham, B. H., Garcia, E.-J., Kelly Galindo, M., Ropers, F. G., Nibbeling, E. Ar., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M. M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., 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. Genetics in Medicine, 100950. https://doi.org/10.1016/j.gim.2023.100950
Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P. A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., Abriata, L. A., Kunnathully, V., Moeller, B. E., Vocat, A., Rommelaere, S., Bocquete, J.-P., Ruchti, E., Limoni, G., Van Campenhoudt, M., Bourgeat, S., Henklein, P., Gilissen, C., Van Bon, B. W., Pfundt, R., Willemsen, M. H., Schieving, J. H., Leonardi, E., Soli, F., Murgia, A., Guo, H., Zhang, Q., Xia, K., Fagerberg, C. R., Beier, C. P., Larsen, M. J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N. S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.-L., Tran Mau-Them, F., Maddocks, A. B. R., Bain, J. M., Bhat, M. A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N. L., Friez, M. J., Richardson, E. B., Gowda, V. K., Srinivasan, V. M., Gupta, Y., Lim, T. Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J. E., Jakšić, A. M., McCabe, B. D., De Los Rios, P., Hornemann, T., D’Angelo, G., & Gennarino, V. A. (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Journal of Clinical Investigation, 133(10), e165019. https://doi.org/10.1172/JCI165019
Lee, S., Menzies, L., Hay, E., Ochoa, E., Docquier, F., Rodger, F., Deshpande, C., Foulds, N. C., Jacquemont, S., Jizi, K., Kiep, H., Kraus, A., Löhner, K., Morrison, P. J., Popp, B., Richardson, R., Van Haeringen, A., Martin, E., Toribio, A., Li, F., Jones, W. D., Sansbury, F. H., & Maher, E. R. (2023). Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders. Human Molecular Genetics, ddad079. https://doi.org/10.1093/hmg/ddad079
Lehmann, C., Pehnke, S., Weimann, A., Bachmann, A., Dittrich, K., Petzold, F., Fürst, D., De Fallois, J., Landgraf, R., Henschler, R., Lindner, T. H., Halbritter, J., Doxiadis, I., Popp, B., & Münch, J. (2023). Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation. Frontiers in Immunology, 14, 1094862. https://doi.org/10.3389/fimmu.2023.1094862
Popp, B., Brugger, M., Poschmann, S., Bartolomaeus, T., Radtke, M., Hentschel, J., Di Donato, N., Rump, A., Gburek‐Augustat, J., Graf, E., Wagner, M., Sorge, I., Lemke, J. R., Meitinger, T., Abou Jamra, R., Strehlow, V., & Brunet, T. (2023). The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. Clinical Genetics, 103(2), 226–230. https://doi.org/10.1111/cge.14241
Rieger, M., Moutton, S., Verheyen, S., Steindl, K., Popp, B., Leheup, B., Bonnet, C., Oneda, B., Rauch, A., Reis, A., Krumbiegel, M., & Hüffmeier, U. (2023). Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. European Journal of Medical Genetics, 66(1), 104669. https://doi.org/10.1016/j.ejmg.2022.104669
Roessler, F., Beck, A. E., Susie, B., Tobias, B., Begtrup, A., Biskup, S., Caluseriu, O., Delanty, N., Fröhlich, C., Greally, M. T., Karnstedt, M., Klöckner, C., Kurtzberg, J., Schubert, S., Schulze, M., Weidenbach, M., Westphal, D. S., White, M., Wolf, C. M., Zyskind, J., Popp, B., & Strehlow, V. (2023). Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder. American Journal of Medical Genetics Part A, 191(2), 469–478. https://doi.org/10.1002/ajmg.a.63044
Schönauer, R., Jin, W., Findeisen, C., Valenzuela, I., Devlin, L. A., Murrell, J., Bedoukian, E. C., Pöschla, L., Hantmann, E., Riedhammer, K. M., Hoefele, J., Platzer, K., Biemann, R., Campeau, P. M., Münch, J., Heyne, H., Hoffmann, A., Ghosh, A., Sun, W., Dong, H., Noé, F., Wolfrum, C., Woods, E., Parker, M. J., Neatu, R., Le Guyader, G., Bruel, A.-L., Perrin, L., Spiewak, H., Missotte, I., Fourgeaud, M., Michaud, V., Lacombe, D., Paolucci, S. A., Buchan, J. G., Glissmeyer, M., Popp, B., Blüher, M., Sayer, J. A., & Halbritter, J. (2023). Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions. The American Journal of Human Genetics, 110(6), 998–1007. https://doi.org/10.1016/j.ajhg.2023.04.010
Schröter, J., Dattner, T., Hüllein, J., Jayme, A., Heuveline, V., Hoffmann, G. F., Kölker, S., Lenz, D., Opladen, T., Popp, B., Schaaf, C. P., Staufner, C., Syrbe, S., Uhrig, S., Hübschmann, D., & Brennenstuhl, H. (2023). aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment. Computational and Structural Biotechnology Journal, 21, 1077–1083. https://doi.org/10.1016/j.csbj.2023.01.027
Van Jaarsveld, R. H., Reilly, J., Cornips, M.-C., Hadders, M. A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S. A., Van Binsbergen, E., Van Den Boogaard, M.-J., Brischoux-Boucher, E., Caylor, R. C., Ciolfi, A., Van Essen, T. A. J., Fontana, P., Hopman, S., Iascone, M., Javier, M. M., Kamsteeg, E.-J., Kerkhof, J., Kido, J., Kim, H.-G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M. A., Lewis, M. E. S., Lichty, A., Mannens, M. M. A. M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C. A., Yosovich, K., Yuskaitis, C. J., Zampino, G., Sadikovic, B., Alders, M., & Oegema, R. (2023). Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genetics in Medicine, 25(1), 49–62. https://doi.org/10.1016/j.gim.2022.09.006
Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., 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, N. J., Sparber, P., Melikyan, L., Bessonova, L., Cherevatova, T., Sharkov, A., Shcherbakova, N., Dabir, T., Kini, U., Schwaibold, E. M. C., Haack, T. B., Bertoli, M., Hoffjan, S., Falb, R., Shinawi, M., Sticht, H., & Zweier, C. (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human Molecular Genetics, 31(3), 440–454. https://doi.org/10.1093/hmg/ddab265
Halfmeyer, I., Bartolomaeus, T., Popp, B., Radtke, M., Helms, T., Hentschel, J., Popp, D., & Jamra, R. A. (2022). Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders. Genes, 14(1), 30. https://doi.org/10.3390/genes14010030
Klau, J., Abou Jamra, R., Radtke, M., Oppermann, H., Lemke, J. R., Beblo, S., & Popp, B. (2022). Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders. European Journal of Human Genetics, 30(1), 117–125. https://doi.org/10.1038/s41431-021-00981-z
Lieberwirth, J. K., Büttner, B., Klöckner, C., Platzer, K., Popp, B., & Abou Jamra, R. (2022). AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders. Human Mutation, 43(12), 1795–1807. https://doi.org/10.1002/humu.24451
Münch, J., Engesser, M., Schönauer, R., Hamm, J. A., Hartig, C., Hantmann, E., Akay, G., Pehlivan, D., Mitani, T., Coban Akdemir, Z., Tüysüz, B., Shirakawa, T., Dateki, S., Claus, L. R., Van Eerde, A. M., Smol, T., Devisme, L., Franquet, H., Attié-Bitach, T., Wagner, T., Bergmann, C., Höhn, A. K., Shril, S., Pollack, A., Wenger, T., Scott, A. A., Paolucci, S., Buchan, J., Gabriel, G. C., Posey, J. E., Lupski, J. R., Petit, F., McCarthy, A. A., Pazour, G. J., Lo, C. W., Popp, B., & Halbritter, J. (2022). Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney International, 101(5), 1039–1053. https://doi.org/10.1016/j.kint.2022.01.028
Neuser, S., Krey, I., Schwan, A., Abou Jamra, R., Bartolomaeus, T., Döring, J., Syrbe, S., Plassmann, M., Rohde, S., Roth, C., Rehder, H., Radtke, M., Le Duc, D., Schubert, S., Bermúdez-Guzmán, L., Leal, A., Schoner, K., & Popp, B. (2022). Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain. European Journal of Human Genetics, 30(1), 101–110. https://doi.org/10.1038/s41431-021-00982-y
Park, J., Bakhtiari, M., Popp, B., Wiesener, M., & Bafna, V. (2022). Detecting tandem repeat variants in coding regions using code-adVNTR. iScience, 25(8), 104785. https://doi.org/10.1016/j.isci.2022.104785
Popp, B., Bienvenu, T., Giurgea, I., Metreau, J., Kraus, C., Reis, A., Fischer, J., Bralo, M. P., Tenorio‐Castaño, 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. Clinical Genetics, 102(6), 517–523. https://doi.org/10.1111/cge.14206
Popp, B., Ekici, A. B., Knaup, K. X., Schneider, K., Uebe, S., Park, J., Bafna, V., Meiselbach, H., Eckardt, K.-U., Schiffer, M., Reis, A., Kraus, C., & Wiesener, M. (2022). Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study. European Journal of Human Genetics, 30(12), 1413–1422. https://doi.org/10.1038/s41431-022-01177-9
Rahimi, M. J., Urban, N., Wegler, M., Sticht, H., Schaefer, M., Popp, B., Gaunitz, F., Morleo, M., Nigro, V., Maitz, S., Mancini, G. M. S., Ruivenkamp, C., Suk, E.-K., Bartolomaeus, T., Merkenschlager, A., Koboldt, D., Bartholomew, D., Stegmann, A. P. A., Sinnema, M., Duynisveld, I., Salvarinova, R., Race, S., De Vries, B. B. A., Trimouille, A., Naudion, S., Marom, D., Hamiel, U., Henig, N., Demurger, F., Rahner, N., Bartels, E., Hamm, J. A., Putnam, A. M., Person, R., Abou Jamra, R., & Oppermann, H. (2022). De novo variants in ATP2B1 lead to neurodevelopmental delay. The American Journal of Human Genetics, 109(5), 944–952. https://doi.org/10.1016/j.ajhg.2022.03.009
Schröter, J., Popp, B., Brennenstuhl, H., Döring, J. H., Donze, S. H., Bijlsma, E. K., Van Haeringen, A., Huhle, D., Jestaedt, L., Merkenschlager, A., Arelin, M., Gräfe, D., Neuser, S., Oates, S., Pal, D. K., Parker, M. J., Lemke, J. R., Hoffmann, G. F., Kölker, S., Harting, I., & Syrbe, S. (2022). Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies. European Journal of Human Genetics, 30(3), 298–306. https://doi.org/10.1038/s41431-021-01027-0
Schwarz, H., Popp, B., Airik, R., Torabi, N., Knaup, K. X., Stoeckert, J., Wiech, T., Amann, K., Reis, A., Schiffer, M., Wiesener, M. S., & Schueler, M. (2022). Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation. Human Molecular Genetics, 31(9), 1357–1369. https://doi.org/10.1093/hmg/ddab322
Van Der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., Van Den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., Cesario, C., Chong, K., Cueto-González, A. M., Dempsey, J. C., Diderich, K. E. M., Doherty, D., Farholt, S., Gerkes, E. H., Gorokhova, S., Govaerts, L. C. P., Gregersen, P. A., Hickey, S. E., Lefebvre, M., Mari, F., Martinovic, J., Northrup, H., O’Leary, M., Parbhoo, K., Patrier, S., Popp, B., Santos-Simarro, F., Stoltenburg, C., Thauvin-Robinet, C., Thompson, E., Vulto-van Silfhout, A. T., Zahir, F. R., Scott, H. S., Earl, R. K., Eichler, E. E., Vora, N. L., Wilnai, Y., Giordano, J. L., Wapner, R. J., Rosenfeld, J. A., Haak, M. C., & Santen, G. W. E. (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine, 24(8), 1753–1760. https://doi.org/10.1016/j.gim.2022.04.010
Wopperer, F. J., Knaup, K. X., Stanzick, K. J., Schneider, K., Jobst-Schwan, T., Ekici, A. B., Uebe, S., Wenzel, A., Schliep, S., Schürfeld, C., Seitz, R., Bernhardt, W., Gödel, M., Wiesener, A., Popp, B., Stark, K. J., Gröne, H.-J., Friedrich, B., Weiß, M., Basic-Jukic, N., Schiffer, M., Schröppel, B., Huettel, B., Beck, B. B., Sayer, J. A., Ziegler, C., Büttner-Herold, M., Amann, K., Heid, I. M., Reis, A., Pasutto, F., & Wiesener, M. S. (2022). Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney International, 102(2), 405–420. https://doi.org/10.1016/j.kint.2022.04.031
Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., Brown, K. E., Bruel, A.-L., Brunet, T., Carneiro, M., Cremer, K., Day, R., Denommé-Pichon, A.-S., Dyment, D. A., Engels, H., Fisher, R., Goh, E. S., Hajianpour, M. J., Haertel, L. R. M., Hauer, N., Hempel, M., Herget, T., Johannsen, J., Kraus, C., Le Guyader, G., Lesca, G., Mau-Them, F. T., McDermott, J. H., McWalter, K., Meyer, P., Õunap, K., Popp, B., Reimand, T., Riedhammer, K. M., Russo, M., Sadleir, L. G., Saenz, M., Schiff, M., Schuler, E., Syrbe, S., Van Der Ven, A. T., Verloes, A., Willems, M., Zweier, C., Steindl, K., Zweier, M., & Rauch, A. (2021). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine, 23(3), 543–554. https://doi.org/10.1038/s41436-020-01011-x
Bosch, E., Hebebrand, M., Popp, B., Penger, T., Behring, B., Cox, H., Towner, S., Kraus, C., Wilson, W. G., Khan, S., Krumbiegel, M., Ekici, A. B., 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. The Journal of Clinical Endocrinology & Metabolism, dgab592. https://doi.org/10.1210/clinem/dgab592
De Fallois, J., Schönauer, R., Münch, J., Nagel, M., Popp, B., & Halbritter, J. (2021). Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics. Frontiers in Genetics, 12, 682565. https://doi.org/10.3389/fgene.2021.682565
Ebrahimi-Fakhari, D., Alecu, J. E., Brechmann, B., Ziegler, M., Eberhardt, K., Jumo, H., D’Amore, A., Habibzadeh, P., Faghihi, M. A., De Bleecker, J. L., Vuillaumier-Barrot, S., Auvin, S., Santorelli, F. M., Neuser, S., Popp, B., Yang, E., Barrett, L., Davies, A. K., Saffari, A., Hirst, J., & Sahin, M. (2021). High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Brain Communications, 3(4), fcab221. https://doi.org/10.1093/braincomms/fcab221
Föhrenbach, M., Jamra, R. A., Borkhardt, A., Brozou, T., Muschke, P., Popp, B., Rey, L. K., Schaper, J., Surowy, H., Zenker, M., Zweier, C., Wieczorek, D., & Redler, S. (2021). <Span style="font-variant:small-caps;"> QRICH1 </span> variants in <span style="font-variant:small-caps;">Ververi‐Brady</span> syndrome—delineation of the genotypic and phenotypic spectrum. Clinical Genetics, 99(1), 199–207. https://doi.org/10.1111/cge.13853
Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., Chung, W. K., Clarke, A. J., Devine, P., Donkervoort, S., Fraser, J. L., Friedman, J., Gates, A., Ghoumid, J., Hobson, E., Horvath, G., Keller-Ramey, J., Keren, B., Kurian, M. A., Lee, V., Leppig, K. A., Lundgren, J., McDonald, M. T., McLaughlin, H. M., McTague, A., Mefford, H. C., Mignot, C., Mikati, M. A., Nava, C., Raymond, F. L., Sampson, J. R., Sanchis-Juan, A., Shashi, V., Shieh, J. T. C., Shinawi, M., Slavotinek, A., Stödberg, T., Stong, N., Sullivan, J. A., Taylor, A. C., Toler, T. L., Van Den Boogaard, M.-J., Van Der Crabben, S. N., Van Gassen, K. L. I., Van Jaarsveld, R. H., Van Ziffle, J., Wadley, A. F., Wagner, M., Wigby, K., Wortmann, S. B., Zarate, Y. A., Møller, R. S., Lemke, J. R., & Platzer, K. (2021). De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine, 23(4), 653–660. https://doi.org/10.1038/s41436-020-01020-w
Neuser, S., Brechmann, B., Heimer, G., Brösse, I., Schubert, S., O’Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., Behrends, C., Darras, B. T., Graham, R. J., Jayakar, P., Byrne, B., Bar‐Aluma, B. E., Haberman, Y., Szeinberg, A., Aldhalaan, H. M., Hashem, M., Al Tenaiji, A., Ismayl, O., Al Nuaimi, A. E., Maher, K., Ibrahim, S., Khan, F., Houlden, H., Ramakumaran, V. S., Pagnamenta, A. T., Posey, J. E., Lupski, J. R., Tan, W., ElGhazali, G., Herman, I., Muñoz, T., Repetto, G. M., Seitz, A., Krumbiegel, M., Poli, M. C., Kini, U., Efthymiou, S., Meiler, J., Maroofian, R., Alkuraya, F. S., Abou Jamra, R., Popp, B., Ben‐Zeev, B., & Ebrahimi‐Fakhari, D. (2021). Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability. Human Mutation, 42(6), 762–776. https://doi.org/10.1002/humu.24206
Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch‐Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., Hüffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., Møller, R. S., Nielsen, J. E. K., Popp, B., Quteineh, L., Rønde, G., Schönewolf‐Greulich, B., Shillington, A., Taylor, M. R., Todd, E., Torring, P. M., Tümer, Z., Vasileiou, G., Yates, T. M., Zweier, C., Rosch, R., Basson, M. A., & Pal, D. K. (2021). <Span style="font-variant:small-caps;"> ZMYND11 </span> variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical Genetics, 100(4), 412–429. https://doi.org/10.1111/cge.14023
Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., Marcos-Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A.-M., Bjerregaard, V. A., Bruel, A.-L., Challman, T. D., Cogné, B., Coubes, C., De Man, S. A., Denommé-Pichon, A.-S., Dye, T. J., Elmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., MacKenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Müller, A. J., O’Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., Van Bon, B., Van De Burgt, I., Van De Laar, I. M. B. H., Van Drie, E., Van Haelst, M. M., Van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C. E., De Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gómez-Puertas, P., Pujol, A., & Tümer, Z. (2021). DLG4-related synaptopathy: A new rare brain disorder. Genetics in Medicine, 23(5), 888–899. https://doi.org/10.1038/s41436-020-01075-9
Velluva, A., Radtke, M., Horn, S., Popp, B., Platzer, K., Gjermeni, E., Lin, C.-C., Lemke, J. R., Garten, A., Schöneberg, T., Blüher, M., Abou Jamra, R., & Le Duc, D. (2021). Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies. BMC Genomics, 22(1), 802. https://doi.org/10.1186/s12864-021-08125-9
Zacher, P., Mayer, T., Brandhoff, F., Bartolomaeus, T., Le Duc, D., Finzel, M., Heinze, A., Horn, S., Klöckner, C., Körber, G., Hentschel, J., Kalita, M., Krey, I., Nastainczyk-Wulf, M., Platzer, K., Rebstock, J., Popp, B., Stiller, M., Teichmann, A.-C., Jamra, R. A., & Lemke, J. R. (2021). The genetic landscape of intellectual disability and epilepsy in adults and the elderly: A systematic genetic work-up of 150 individuals. Genetics in Medicine, 23(8), 1492–1497. https://doi.org/10.1038/s41436-021-01153-6
Hannan, S., Affandi, A. H. B., Minere, M., Jones, C., Goh, P., Warnes, G., Popp, B., Trollmann, R., Nizetic, D., & Smart, T. G. (2020). Differential Coassembly of α1-GABA \(_{\textrm{{A}}}\) Rs Associated with Epileptic Encephalopathy. The Journal of Neuroscience, 40(29), 5518–5530. https://doi.org/10.1523/JNEUROSCI.2748-19.2020
Mirzaa, G. M., Chong, J. X., Piton, A., Popp, B., Foss, K., Guo, H., Harripaul, R., Xia, K., Scheck, J., Aldinger, K. A., Sajan, S. A., Tang, S., Bonneau, D., Beck, A., White, J., Mahida, S., Harris, J., Smith-Hicks, C., Hoyer, J., Zweier, C., Reis, A., Thiel, C. T., Jamra, R. A., Zeid, N., Yang, A., Farach, L. S., Walsh, L., Payne, K., Rohena, L., Velinov, M., Ziegler, A., Schaefer, E., Gatinois, V., Geneviève, D., Simon, M. E. H., Kohler, J., Rotenberg, J., Wheeler, P., Larson, A., Ernst, M. E., Akman, C. I., Westman, R., Blanchet, P., Schillaci, L.-A., Vincent-Delorme, C., Gripp, K. W., Mattioli, F., Guyader, G. L., Gerard, B., Mathieu-Dramard, M., Morin, G., Sasanfar, R., Ayub, M., Vasli, N., Yang, S., Person, R., Monaghan, K. G., Nickerson, D. A., Van Binsbergen, E., Enns, G. M., Dries, A. M., Rowe, L. J., Tsai, A. C. H., Svihovec, S., Friedman, J., Agha, Z., Qamar, R., Rodan, L. H., Martinez-Agosto, J., Ockeloen, C. W., Vincent, M., Sunderland, W. J., Bernstein, J. A., Eichler, E. E., Vincent, J. B., & Bamshad, M. J. (2020). De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genetics in Medicine, 22(3), 538–546. https://doi.org/10.1038/s41436-019-0693-9
Popp, B., Erber, R., Kraus, C., Vasileiou, G., Hoyer, J., Burghaus, S., Hartmann, A., Beckmann, M. W., Reis, A., & Agaimy, A. (2020). Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. Modern Pathology, 33(11), 2341–2353. https://doi.org/10.1038/s41379-020-0596-y
Rabin, R., Radmanesh, A., Glass, I. A., Dobyns, W. B., Aldinger, K. A., Shieh, J. T., Romoser, S., Bombei, H., Dowsett, L., Trapane, P., Bernat, J. A., Baker, J., Mendelsohn, N. J., Popp, B., Siekmeyer, M., Sorge, I., Sansbury, F. H., Watts, P., Foulds, N. C., Burton, J., Hoganson, G., Hurst, J. A., Menzies, L., Osio, D., Kerecuk, L., Cobben, J. M., Jizi, K., Jacquemont, S., Bélanger, S. A., Löhner, K., Veenstra‐Knol, H. E., Lemmink, H. H., Keller‐Ramey, J., Wentzensen, I. M., Punj, S., McWalter, K., Lenberg, J., Ellsworth, K. A., Radtke, K., Akbarian, S., & Pappas, J. (2020). Genotype–phenotype correlation at codon 1740 of <span style="font-variant:small-caps;"> SETD2 </span>. American Journal of Medical Genetics Part A, 182(9), 2037–2048. https://doi.org/10.1002/ajmg.a.61724
Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette De Villemeur, T., Bley, A. E., Blumkin, L., Boespflug‐Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F., De Giorgis, V., Denecke, J., Doummar, D., Drake Af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M., Oppermann, I., Pérez‐Dueñas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., & Crow, Y. J. (2020). Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Human Mutation, 41(4), 837–849. https://doi.org/10.1002/humu.23975
Schönauer, R., Baatz, S., Nemitz-Kliemchen, M., Frank, V., Petzold, F., Sewerin, S., Popp, B., Münch, J., Neuber, S., Bergmann, C., & Halbritter, J. (2020). Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes. Genetics in Medicine, 22(8), 1374–1383. https://doi.org/10.1038/s41436-020-0816-3
Scotti, F. von, Agaimy, A., Popp, B., Endele, S., Kraus, C., Wuest, W., Iro, H., & Koch, M. (2020). Plexiform Hypoglossal Schwannoma in an 11-Year-Old Child: Diagnosis, Management and Review of the Literature. Journal of Surgery and Research, 3(4), 382–389.
Vasileiou, G., Costa, M. J., Long, C., Wetzler, I. R., Hoyer, J., Kraus, C., Popp, B., Emons, J., Wunderle, M., Wenkel, E., Uder, M., Beckmann, M. W., Jud, S. M., Fasching, P. A., Cavallaro, A., Reis, A., & Hammon, M. (2020). Breast MRI texture analysis for prediction of BRCA-associated genetic risk. BMC Medical Imaging, 20(1), 86. https://doi.org/10.1186/s12880-020-00483-2
Diets, I. J., Hoyer, J., Ekici, A. B., Popp, B., Hoogerbrugge, N., Van Reijmersdal, S. V., Bhaskaran, R., Hadjihannas, M., Vasileiou, G., Thiel, C. T., Seven, D., Uebe, S., Ilencikova, D., Waanders, E., Mavinkurve‐Groothuis, A. M. C., Roeleveld, N., De Krijger, R. R., Wegert, J., Graf, N., Vokuhl, C., Agaimy, A., Gessler, M., Reis, A., Kuiper, R. P., Jongmans, M. C. J., & Metzler, M. (2019). TRIM28 haploinsufficiency predisposes to Wilms tumor. International Journal of Cancer, 145(4), 941–951. https://doi.org/10.1002/ijc.32167
Hauer, N. N., Popp, B., Taher, L., Vogl, C., Dhandapany, P. S., Büttner, C., Uebe, S., Sticht, H., Ferrazzi, F., Ekici, A. B., De Luca, A., Klinger, P., Kraus, C., Zweier, C., Wiesener, A., Jamra, R. A., Kunstmann, E., Rauch, A., Wieczorek, D., Jung, A.-M., Rohrer, T. R., Zenker, M., Doerr, H.-G., Reis, A., & Thiel, C. T. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European Journal of Human Genetics, 27(7), 1061–1071. https://doi.org/10.1038/s41431-019-0362-0
Hebebrand, M., Hüffmeier, U., Trollmann, R., Hehr, U., Uebe, S., Ekici, A. B., Kraus, C., Krumbiegel, M., Reis, A., Thiel, C. T., & Popp, B. (2019). The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases, 14(1), 38. https://doi.org/10.1186/s13023-019-1020-x
Hebebrand, M., Vasileiou, G., Krumbiegel, M., Kraus, C., Uebe, S., Ekici, A. B., Thiel, C. T., Reis, A., & Popp, B. (2019). A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. American Journal of Medical Genetics Part A, 179(1), 50–56. https://doi.org/10.1002/ajmg.a.60679
Knaup, K. X., Büttner-Herold, M., Popp, B., Stoeckert, J., Schiffer, M., Schueler, M., Reis, A., Amann, K., Ekici, A. B., & Wiesener, M. S. (2019). The dilemma of regularly missed diagnoses: ADTKD. Archives of Clinical and Medical Case Reports, 3(6), 500–507.
Popp, B., Agaimy, A., Kraus, C., Knaup, K. X., Ekici, A. B., Uebe, S., Reis, A., Wiesener, M., & Zweier, C. (2019). Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. BMC Cancer, 19(1), 435. https://doi.org/10.1186/s12885-019-5633-1
Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., Illum, N., Dunkhase-Heinl, U., Wiesener, A., Popp, B., Marangi, G., Hjortshøj, T. D., Ek, J., Vogel, I., Becher, N., Roos, L., Zollino, M., & Fagerberg, C. R. (2019). Is MED13L-related intellectual disability a recognizable syndrome? European Journal of Medical Genetics, 62(2), 129–136. https://doi.org/10.1016/j.ejmg.2018.06.014
Vasileiou, G., Hoyer, J., Thiel, C. T., Schaefer, J., Zapke, M., Krumbiegel, M., Kraus, C., Zweier, M., Uebe, S., Ekici, A. B., Schneider, M., Wiesener, M., Rauch, A., Faschingbauer, F., Reis, A., Zweier, C., & Popp, B. (2019). Prenatal diagnosis of HNF1B ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenatal Diagnosis, 39(12), 1136–1147. https://doi.org/10.1002/pd.5556
Agaimy, A., Amin, M. B., Gill, A. J., Popp, B., Reis, A., Berney, D. M., Magi-Galluzzi, C., Sibony, M., Smith, S. C., Suster, S., Trpkov, K., Hes, O., & Hartmann, A. (2018). SWI/SNF protein expression status in fumarate hydratase–deficient renal cell carcinoma: Immunohistochemical analysis of 32 tumors from 28 patients. Human Pathology, 77, 139–146. https://doi.org/10.1016/j.humpath.2018.04.004
Hauer, N. N., Popp, B., Schoeller, E., Schuhmann, S., Heath, K. E., Hisado-Oliva, A., Klinger, P., Kraus, C., Trautmann, U., Zenker, M., Zweier, C., Wiesener, A., Abou Jamra, R., Kunstmann, E., Wieczorek, D., Uebe, S., Ferrazzi, F., Büttner, C., Ekici, A. B., Rauch, A., Sticht, H., Dörr, H.-G., Reis, A., & Thiel, C. T. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630–638. https://doi.org/10.1038/gim.2017.159
Knaup, K. X., Hackenbeck, T., Popp, B., Stoeckert, J., Wenzel, A., Büttner-Herold, M., Pfister, F., Schueler, M., Seven, D., May, A. M., Halbritter, J., Gröne, H.-J., Reis, A., Beck, B. B., Amann, K., Ekici, A. B., & Wiesener, M. S. (2018). Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. Journal of the American Society of Nephrology, 29(9), 2298–2309. https://doi.org/10.1681/ASN.2018030245
Popp, B., Krumbiegel, M., Grosch, J., Sommer, A., Uebe, S., Kohl, Z., Plötz, S., Farrell, M., Trautmann, U., Kraus, C., Ekici, A. B., Asadollahi, R., Regensburger, M., Günther, K., Rauch, A., Edenhofer, F., Winkler, J., Winner, B., & Reis, A. (2018). Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. Scientific Reports, 8(1), 17201. https://doi.org/10.1038/s41598-018-35506-0
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., Low, K., Weber, A., Wenzel, M., Altmüller, J., Li, Y., Wollnik, B., Hoganson, G., Plona, M.-R., Cho, M. T., Thiel, C. T., Lüdecke, H.-J., Strom, T. M., Calpena, E., Wilkie, A. O. M., Wieczorek, D., Engel, F. B., & Reis, A. (2018). Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. The American Journal of Human Genetics, 102(3), 468–479. https://doi.org/10.1016/j.ajhg.2018.01.014
Wenzel, A., Altmueller, J., Ekici, A. B., Popp, B., Stueber, K., Thiele, H., Pannes, A., Staubach, S., Salido, E., Nuernberg, P., Reinhardt, R., Reis, A., Rump, P., Hanisch, F.-G., Wolf, M. T. F., Wiesener, M., Huettel, B., & Beck, B. B. (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Scientific Reports, 8(1), 4170. https://doi.org/10.1038/s41598-018-22428-0
Popp, B., Ekici, A. B., Thiel, C. T., Hoyer, J., Wiesener, A., Kraus, C., Reis, A., & Zweier, C. (2017). Exome Pool-Seq in neurodevelopmental disorders. European Journal of Human Genetics, 25(12), 1364–1376. https://doi.org/10.1038/s41431-017-0022-1
Stankiewicz, P., Khan, T. N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., Bernstein, J. A., Brown, C. W., Rosenfeld, J. A., Rednam, S., Scollon, S., Bergstrom, K. L., Parsons, D. W., Plon, S. E., Vieira, M. W., Quaio, C. R. D. C., Baratela, W. A. R., Acosta Guio, J. C., Armstrong, R., Mehta, S. G., Rump, P., Pfundt, R., Lewandowski, R., Fernandes, E. M., Shinde, D. N., Tang, S., Hoyer, J., Zweier, C., Reis, A., Bacino, C. A., Xiao, R., Breman, A. M., Smith, J. L., Katsanis, N., Bostwick, B., Popp, B., Davis, E. E., & Yang, Y. (2017). Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. The American Journal of Human Genetics, 101(4), 503–515. https://doi.org/10.1016/j.ajhg.2017.08.014
Johansen, A., Rosti, R. O., Musaev, D., Sticca, E., Harripaul, R., Zaki, M., Çağlayan, A. O., Azam, M., Sultan, T., Froukh, T., Reis, A., Popp, B., Ahmed, I., John, P., Ayub, M., Ben-Omran, T., Vincent, J. B., Gleeson, J. G., & Abou Jamra, R. (2016). Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. The American Journal of Human Genetics, 99(4), 912–916. https://doi.org/10.1016/j.ajhg.2016.07.019
Popp, B., Trollmann, R., Büttner, C., Caliebe, A., Thiel, C. T., Hüffmeier, U., Reis, A., & Zweier, C. (2016). Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. European Journal of Medical Genetics, 59(10), 549–553. https://doi.org/10.1016/j.ejmg.2016.09.002
Saunier, C., Støve, S. I., Popp, B., Gérard, B., Blenski, M., AhMew, N., Bie, C., Goldenberg, P., Isidor, B., Keren, B., Leheup, B., Lampert, L., Mignot, C., Tezcan, K., Mancini, G. M. S., Nava, C., Wasserstein, M., Bruel, A., Thevenon, J., Masurel, A., Duffourd, Y., Kuentz, P., Huet, F., Rivière, J., Slegtenhorst, M., Faivre, L., Piton, A., Reis, A., Arnesen, T., Thauvin‐Robinet, C., & Zweier, C. (2016). Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency. Human Mutation, 37(8), 755–764. https://doi.org/10.1002/humu.23001
Kessler, K., Wunderlich, I., Uebe, S., Falk, N. S., Gießl, A., Helmut Brandstätter, J., Popp, B., Klinger, P., Ekici, A. B., Sticht, H., Dörr, H.-G., Reis, A., Roepman, R., Seemanová, E., & Thiel, C. T. (2015). DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Scientific Reports, 5(1), 11649. https://doi.org/10.1038/srep11649
Pasutto, F., Mauri, L., Popp, B., Sticht, H., Ekici, A., Piozzi, E., Bonfante, A., Penco, S., Schlötzer-Schrehardt, U., & Reis, A. (2015). Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld–Rieger syndrome and glaucoma. Gene, 568(1), 76–80. https://doi.org/10.1016/j.gene.2015.05.015
Popp, B., Støve, S. I., Endele, S., Myklebust, L. M., Hoyer, J., Sticht, H., Azzarello-Burri, S., Rauch, A., Arnesen, T., & Reis, A. (2015). De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. European Journal of Human Genetics, 23(5), 602–609. https://doi.org/10.1038/ejhg.2014.150
Liu, Y., Popp, B., & Schmidt, B. (2014). CUSHAW3: Sensitive and Accurate Base-Space and Color-Space Short-Read Alignment with Hybrid Seeding. PLoS ONE, 9(1), e86869. https://doi.org/10.1371/journal.pone.0086869
Freunscht, I., Popp, B., Blank, R., Endele, S., Moog, U., Petri, H., Prott, E.-C., Reis, A., Rübo, J., Zabel, B., Zenker, M., Hebebrand, J., & Wieczorek, D. (2013). Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behavioral and Brain Functions, 9(1), 20. https://doi.org/10.1186/1744-9081-9-20
Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., Zweier, M., Göhring, I., Zink, A. M., Rappold, G., Schröck, E., Wieczorek, D., Riess, O., Engels, H., Rauch, A., & Reis, A. (2012). Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability. The American Journal of Human Genetics, 90(3), 565–572. https://doi.org/10.1016/j.ajhg.2012.02.007
Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., Hellenbroich, Y., Kalscheuer, V. M., Kohlhase, J., Moog, U., Rappold, G., Rauch, A., Ropers, H.-H., Von Spiczak, S., Tönnies, H., Villeneuve, N., Villard, L., Zabel, B., Zenker, M., Laube, B., Reis, A., Wieczorek, D., Van Maldergem, L., & Kutsche, K. (2010). Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42(11), 1021–1026. https://doi.org/10.1038/ng.677