GENET MED - Genetics in medicine : official journal of the American College of Medical Genetics
Publications
- 2024
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
Hinić, S., Cybulski, C., Van der Post, R. S., Vos, J. R., Schuurs-Hoeijmakers, J., Brugnoletti, F., Koene, S., Vreede, L., van Zelst-Stams, W. A. G., Kets, C. M., Haadsma, M., Spruijt, L., Wevers, M. R., Evans, D. G., Wimmer, K., Schnaiter, S., Volk, A. E., Möllring, A., de Putter, R., Soikkonen, L., Kahre, T., Tooming, M., de Jong, M. M., Vaz, F., Mensenkamp, A. R., Genuardi, M., Lubinski, J., Ligtenberg, M., Hoogerbrugge, N. & de Voer, R. M., 05.2024, In: GENET MED. 26, 5, 101101.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Posset, R., Garbade, S. F., Gleich, F., Scharre, S., Okun, J. G., Gropman, A. L., Nagamani, S. C. S., Druck, A-C., Epp, F., Hoffmann, G. F., Kölker, S., Zielonka, M., Urea Cycle Disorders Consortium (UCDC) & European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group[Corporate Author], 04.2024, In: GENET MED. 26, 4, p. 101039Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R. W., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N. M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., van der Ven, A. T., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J. A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L. & Wagner, M., 02.2024, In: GENET MED. 26, 2, 101013.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2023
de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Harms, F. L., Dingemans, A. J. M., Hempel, M., Pfundt, R., Bierhals, T., Casar, C., Müller, C., Niermeijer, J-M. F., Fischer, J., Jahn, A., Hübner, C., Majore, S., Agolini, E., Novelli, A., van der Smagt, J., Ernst, R., van Binsbergen, E., Mancini, G. M. S., van Slegtenhorst, M., Barakat, T. S., Wakeling, E. L., Kamath, A., Downie, L., Pais, L., White, S. M., de Vries, B. B. A. & Kutsche, K., 10.2023, In: GENET MED. 25, 10, p. 100927Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kortüm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K., Srinivasan, V. M., Bakhtiari, S., Kruer, M. C., Salih, M. A., Kuechler, A., Muller, E. A., Blocker, K., Kuismin, O., Park, K. L., Kochhar, A., Brown, K., Ramanathan, S., Clark, R. D., Elgizouli, M., Melikishvili, G., Tabatadze, N., Stark, Z., Mirzaa, G. M., Ong, J., Grasshoff, U., Bevot, A., von Wintzingerode, L., Jamra, R. A., Hennig, Y., Goldenberg, P., Al Alam, C., Charif, M., Boulouiz, R., Bellaoui, M., Amrani, R., Al Mutairi, F., Tamim, A. M., Abdulwahab, F., Alkuraya, F. S., Khouj, E. M., Alvi, J. R., Sultan, T., Hashemi, N., Karimiani, E. G., Ashrafzadeh, F., Imannezhad, S., Efthymiou, S., Houlden, H., Sticht, H. & Zweier, C., 08.2023, In: GENET MED. 25, 8, p. 100885Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmannd, S., 06.2023, In: GENET MED. 25, 6, p. 100828Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmann, S., 06.2023, In: GENET MED. 25, 6, p. 100314Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Majmundar, A. J., Widmeier, E., Heneghan, J. F., Daga, A., Wu, C-H. W., Buerger, F., Hugo, H., Ullah, I., Amar, A., Ottlewski, I., Braun, D. A., Jobst-Schwan, T., Lawson, J. A., Zahoor, M. Y., Rodig, N. M., Tasic, V., Nelson, C. P., Khaliq, S., Schönauer, R., Halbritter, J., Sayer, J. A., Fathy, H. M., Baum, M. A., Shril, S., Mane, S., Alper, S. L. & Hildebrandt, F., 03.2023, In: GENET MED. 25, 3, p. 100351Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
- 2022
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y., Moura de Souza, C. F., Garcia-Jiménez, M. C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L. H., Hörbe-Blindt, A., Horka, L. M., Huemer, M., Uçar, S. K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E. M., Maiorana, A., McCandless, S. E., Mitchell, J. J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P. Q., Regier, D., Rossi, A., Santer, R., Schuman, H. C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K. M., Tal, G., Tanšek, M. Z., Torkar, A. D., Tchan, M., Thyagu, S., Schrier Vergano, S. A., Vucko, E., Weinhold, N., Zsidegh, P. & Wortmann, S. B., 08.2022, In: GENET MED. 24, 8, p. 1781-1788 8 p.Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
Seltzsam, S., Wang, C., Zheng, B., Mann, N., Connaughton, D. M., Wu, C-H. W., Schneider, S., Schierbaum, L., Kause, F., Kolvenbach, C. M., Nakayama, M., Dai, R., Ottlewski, I., Schneider, R., Deutsch, K., Buerger, F., Klämbt, V., Mao, Y., Onuchic-Whitford, A. C., Nicolas-Frank, C., Yousef, K., Pantel, D., Lai, E. W., Salmanullah, D., Majmundar, A. J., Bauer, S. B., Rodig, N. M., Somers, M. J. G., Traum, A. Z., Stein, D. R., Daga, A., Baum, M. A., Daouk, G. H., Tasic, V., Awad, H. S., Eid, L. A., El Desoky, S., Shalaby, M., Kari, J. A., Fathy, H. M., Soliman, N. A., Mane, S. M., Shril, S., Ferguson, M. A. & Hildebrandt, F., 02.2022, In: GENET MED. 24, 2, p. 307-318 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2021
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
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Wortmann, S. B., Ziętkiewicz, S., Guerrero-Castillo, S., Feichtinger, R. G., Wagner, M., Russell, J., Ellaway, C., Mróz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stülpnagel, C., Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K. C., Lorsbach, R., Dale, R. C., Gersting, S., Prada, C. E., Christodoulou, J., Wolf, N. I., Venselaar, H., Mayr, J. A. & Wevers, R. A., 09.2021, In: GENET MED. 23, 9, p. 1705-1714 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina, S., Ogmen, K., Sackey, E., Grigoriadis, D., Karapouliou, C., Nadarajah, N., Ebbing, C., Lord, J., Mellis, R., Kortuem, F., Dinulos, M. B., Polun, C., Bale, S., Atton, G., Robinson, A., Reigstad, H., Houge, G., von der Wense, A., Becker, W-H., Jeffery, S., Mortimer, P. S., Gordon, K., Josephs, K. S., Robart, S., Kilby, M. D., Vallee, S., Gorski, J. L., Hempel, M., Berland, S., Mansour, S. & Ostergaard, P., 07.2021, In: GENET MED. 23, 7, p. 1376-1377 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina, S., Ogmen, K., Sackey, E., Grigoriadis, D., Karapouliou, C., Nadarajah, N., Ebbing, C., Lord, J., Mellis, R., Kortuem, F., Dinulos, M. B., Polun, C., Bale, S., Atton, G., Robinson, A., Reigstad, H., Houge, G., von der Wense, A., Becker, W-H., Jeffery, S., Mortimer, P. S., Gordon, K., Josephs, K. S., Robart, S., Kilby, M. D., Vallee, S., Gorski, J. L., Hempel, M., Berland, S., Mansour, S. & Ostergaard, P., 07.2021, In: GENET MED. 23, 7, p. 1315-1324 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mucolipidosis type II and type III: a systematic review of 843 published cases
Dogterom, E. J., Wagenmakers, M. A. E. M., Wilke, M., Demirdas, S., Muschol, N. M., Pohl, S., van der Meijden, J. C., Rizopoulos, D., van der Ploeg, A. T. & Oussoren, E., 25.06.2021, In: GENET MED. 23, 11, p. 2047-2056 10 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Zarate, Y. A., Uehara, T., Abe, K., Oginuma, M., Harako, S., Ishitani, S., Lehesjoki, A-E., Bierhals, T., Kloth, K., Ehmke, N., Horn, D., Holtgrewe, M., Anderson, K., Viskochil, D., Edgar-Zarate, C. L., Sacoto, M. J. G., Schnur, R. E., Morrow, M. M., Sanchez-Valle, A., Pappas, J., Rabin, R., Muona, M., Anttonen, A-K., Platzer, K., Luppe, J., Gburek-Augustat, J., Kaname, T., Okamoto, N., Mizuno, S., Kaido, Y., Ohkuma, Y., Hirose, Y., Ishitani, T. & Kosaki, K., 06.2021, In: GENET MED. 23, 6, p. 1050-1057 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Li, D., Strong, A., Shen, K. M., Cassiman, D., Van Dyck, M., Linhares, N. D., Valadares, E. R., Wang, T., Pena, S. D. J., Jaeken, J., Vergano, S., Zackai, E., Hing, A., Chow, P., Ganguly, A., Scholz, T., Bierhals, T., Deindl, P., Hakonarson, H. & Bhoj, E., 04.2021, In: GENET MED. 23, 4, p. 637-644 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
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., 03.2021, In: GENET MED. 23, 3, p. 543-554 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Arboleda, V. A., Newbury-Ecob, R. & DDD Study, 11.2020, In: GENET MED. 22, 11, p. 1920Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Castilla-Vallmanya, L., Selmer, K. K., Dimartino, C., Rabionet, R., Blanco-Sánchez, B., Yang, S., Reijnders, M. R. F., van Essen, A. J., Oufadem, M., Vigeland, M. D., Stadheim, B., Houge, G., Cox, H., Kingston, H., Clayton-Smith, J., Innis, J. W., Iascone, M., Cereda, A., Gabbiadini, S., Chung, W. K., Sanders, V., Charrow, J., Bryant, E., Millichap, J., Vitobello, A., Thauvin, C., Mau-Them, F. T., Faivre, L., Lesca, G., Labalme, A., Rougeot, C., Chatron, N., Sanlaville, D., Christensen, K. M., Kirby, A., Lewandowski, R., Gannaway, R., Aly, M., Lehman, A., Clarke, L., Graul-Neumann, L., Zweier, C., Lessel, D., Lozic, B., Aukrust, I., Peretz, R., Stratton, R., Smol, T., Dieux-Coëslier, A., Meira, J., Wohler, E., Sobreira, N., Beaver, E. M., Heeley, J., Briere, L. C., High, F. A., Sweetser, D. A., Walker, M. A., Keegan, C. E., Jayakar, P., Shinawi, M., Kerstjens-Frederikse, W. S., Earl, D. L., Siu, V. M., Reesor, E., Yao, T., Hegele, R. A., Vaske, O. M., Rego, S., Shapiro, K. A., Wong, B., Gambello, M. J., McDonald, M., Karlowicz, D., Colombo, R., Serretti, A., Pais, L., O'Donnell-Luria, A., Wray, A., Sadedin, S., Chong, B., Tan, T. Y., Christodoulou, J., White, S. M., Slavotinek, A., Barbouth, D., Morel Swols, D., Parisot, M., Bole-Feysot, C., Nitschké, P., Pingault, V., Munnich, A., Cho, M. T., Cormier-Daire, V., Balcells, S., Lyonnet, S., Grinberg, D., Amiel, J., Urreizti, R., Gordon, C. T. & Undiagnosed Diseases Network, Care4Rare Canada Consortium, 07.2020, In: GENET MED. 22, 7, p. 1215-1226 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
Wagner, M., Lévy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Bergès, M., Kitajima, J. P., Kim, C. A., Salomao, J. G., Amor, D. J., Cooper, M. S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E. G., Toosi, M. B., Houlden, H., Jin, S. C., Si, Y. C., Rodan, L. H., Venselaar, H., Kruer, M. C., Kok, F., Hoffmann, G. F., Strom, T. M., Wortmann, S. B., Tabet, A-C. & Opladen, T., 06.2020, In: GENET MED. 22, 6, p. 1061-1068 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., 03.2020, In: GENET MED. 22, 3, p. 610-621 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
PEDIA: prioritization of exome data by image analysis
Hsieh, T-C., Mensah, M. A., Pantel, J. T., Aguilar, D., Bar, O., Bayat, A., Becerra-Solano, L., Bentzen, H. B., Biskup, S., Borisov, O., Braaten, O., Ciaccio, C., Coutelier, M., Cremer, K., Danyel, M., Daschkey, S., Eden, H. D., Devriendt, K., Wilson, S., Douzgou, S., Đukić, D., Ehmke, N., Fauth, C., Fischer-Zirnsak, B., Fleischer, N., Gabriel, H., Graul-Neumann, L., Gripp, K. W., Gurovich, Y., Gusina, A., Haddad, N., Hajjir, N., Hanani, Y., Hertzberg, J., Hoertnagel, K., Howell, J., Ivanovski, I., Kaindl, A., Kamphans, T., Kamphausen, S., Karimov, C., Kathom, H., Keryan, A., Knaus, A., Köhler, S., Kornak, U., Lavrov, A., Leitheiser, M., Lyon, G. J., Mangold, E., Reina, P. M., Carrascal, A. M., Mitter, D., Herrador, L. M., Nadav, G., Nöthen, M., Orrico, A., Ott, C-E., Park, K., Peterlin, B., Pölsler, L., Raas-Rothschild, A., Randolph, L., Revencu, N., Fagerberg, C. R., Robinson, P. N., Rosnev, S., Rudnik, S., Rudolf, G., Schatz, U., Schossig, A., Schubach, M., Shanoon, O., Sheridan, E., Smirin-Yosef, P., Spielmann, M., Suk, E-K., Sznajer, Y., Thiel, G., Verloes, A., Vrecar, I., Wahl, D., Weber, I., Winter, K., Wiśniewska, M., Wollnik, B., Yeung, M. W., Zhao, M., Zhu, N., Zschocke, J., Mundlos, S., Horn, D. & Krawitz, P. M., 12.2019, In: GENET MED. 21, 12, p. 2807-2814 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., DDD Study, Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V. A. & Newbury-Ecob, R., 04.2019, In: GENET MED. 21, 4, p. 850-860 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I., Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., 03.2019, In: GENET MED. 21, 3, p. 601-607 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
McGovern, M. M., Dionisi-Vici, C., Giugliani, R., Hwu, P., Lidove, O., Lukacs, Z., Eugen Mengel, K., Mistry, P. K., Schuchman, E. H. & Wasserstein, M. P., 09.2017, In: GENET MED. 19, 9, p. 967-974 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
Park, J. H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grüneberg, M. & Marquardt, T., 27.07.2017, In: GENET MED.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
Groth, K. A., Kodolitsch, Y., Kutsche, K., Gaustadnes, M., Thorsen, K., Andersen, N. H. & Gravholt, C. H., 07.2017, In: GENET MED. 19, 7, p. 772-777Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk
Muranen, T. A., Greco, D., Blomqvist, C., Aittomäki, K., Khan, S., Hogervorst, F., Verhoef, S., Pharoah, P. D. P., Dunning, A. M., Shah, M., Luben, R., Bojesen, S. E., Nordestgaard, B. G., Schoemaker, M., Swerdlow, A., García-Closas, M., Figueroa, J., Dörk, T., Bogdanova, N. V., Hall, P., Li, J., Khusnutdinova, E., Bermisheva, M., Kristensen, V., Borresen-Dale, A-L., Investigators, N., Peto, J., Dos-Santos-Silva, I., Couch, F. J., Olson, J. E., Hillemans, P., Park-Simon, T-W., Brauch, H., Hamann, U., Burwinkel, B., Marme, F., Meindl, A., Schmutzler, R. K., Cox, A., Cross, S. S., Sawyer, E. J., Tomlinson, I., Lambrechts, D., Moisse, M., Lindblom, A., Margolin, S., Hollestelle, A., Martens, J. W. M., Fasching, P. A., Beckmann, M. W., Andrulis, I. L., Knight, J. A., Investigators, KCA., Anton-Culver, H., Ziogas, A., Giles, G. G., Milne, R. L., Brenner, H., Arndt, V., Mannermaa, A., Kosma, V-M., Chang-Claude, J., Rudolph, A., Devilee, P., Seynaeve, C., Hopper, J. L., Southey, M. C., John, E. M., Whittemore, A. S., Bolla, M. K., Wang, Q., Michailidou, K., Dennis, J., Easton, D. F., Schmidt, M. K. & Nevanlinna, H., 05.2017, In: GENET MED. 19, 5, p. 599-603 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
Response to Calgani et al
Zenker, M. & Kutsche, K., 12.2016, In: GENET MED. 18, 12, p. 1321Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Transfer
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Diez-Fernandez, C., Rüfenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M. & Häberle, J., 10.2016, In: GENET MED. 18, 10, p. 991-1000Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz, K., Lissewski, C., Spranger, S., Mitter, D., Riess, A., Lopez-Gonzalez, V., Lüttgen, S., Aydin, H., von Deimling, F., Evers, C., Hahn, A., Hempel, M., Issa, U., Kahlert, A-K., Lieb, A., Villavicencio-Lorini, P., Ballesta-Martinez, M. J., Nampoothiri, S., Ovens-Raeder, A., Puchmajerová, A., Satanovskij, R., Seidel, H., Unkelbach, S., Zabel, B., Kutsche, K. & Zenker, M., 04.2016, In: GENET MED. 18, 12, p. 1226-1234Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2013
Growth behavior of plexiform neurofibromas after surgery
Nguyen, R., Ibrahim, C., Friedrich, R. E., Westphal, M., Schuhmann, M. & Mautner, V-F., 01.09.2013, In: GENET MED. 15, 9, p. 691-7 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2010
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
Mendelsohn, N. J., Harmatz, P., Bodamer, O., Burton, B. K., Giugliani, R., Jones, S. A., Lampe, C., Malm, G., Steiner, R. D., Parini, R., Hunter Outcome Survey Investigators & Muschol, N. M., 01.12.2010, In: GENET MED. 12, 12, p. 816-22 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2009
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.
Whybra, C., Miebach, E., Mengel, E., Gal, A., Baron, K., Beck, M. & Kampmann, C., 2009, In: GENET MED. 11, 6, p. 441-449 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2008
Initial report from the Hunter Outcome Survey
Wraith, J. E., Beck, M., Giugliani, R., Clarke, J., Martin, R., Muenzer, J., HOS Investigators & Muschol, N. M., 01.07.2008, In: GENET MED. 10, 7, p. 508-16 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2002
Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis
Kluwe, L., Friedrich, R. E., Tatagiba, M. & Mautner, V. F., 2002, In: GENET MED. 4, 1, p. 27-30 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review