EUR J HUM GENET - European journal of human genetics : EJHG
Publications
- 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Harms, F. L., Rexach, J. E., Efthymiou, S., Aynekin, B., Per, H., Güleç, A., Nampoothiri, S., Sampaio, H., Sachdev, R., Stoeva, R., Myers, K., Pena, L. D. M., Kalfa, T. A., Chard, M., Klassen, M., Pries, M. & Kutsche, K., 05.2024, In: EUR J HUM GENET. 32, 5, p. 558-566 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Functional studies drive treatment of phenylketonuria to become personalized
Gundorova, P., Danecka, M. K., Woidy, M., Kasten, V., Muntau, A. C. & Gersting, S. W., 04.01.2024, In: EUR J HUM GENET. 32, Suppl 1, p. 698 P19.044.D.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
- 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Engel, C., Valence, S., Delplancq, G., Maroofian, R., Accogli, A., Agolini, E., Alkuraya, F. S., Baglioni, V., Bagnasco, I., Becmeur-Lefebvre, M., Bertini, E., Borggraefe, I., Brischoux-Boucher, E., Bruel, A-L., Brusco, A., Bubshait, D. K., Cabrol, C., Cilio, M. R., Cornet, M-C., Coubes, C., Danhaive, O., Delague, V., Denommé-Pichon, A-S., Di Giacomo, M. C., Doco-Fenzy, M., Engels, H., Cremer, K., Gérard, M., Gleeson, J. G., Heron, D., Goffeney, J., Guimier, A., Harms, F. L., Houlden, H., Iacomino, M., Kaiyrzhanov, R., Kamien, B., Karimiani, E. G., Kraus, D., Kuentz, P., Kutsche, K., Lederer, D., Massingham, L., Mignot, C., Morris-Rosendahl, D., Nagarajan, L., Odent, S., Ormières, C., Partlow, J. N., Pasquier, L., Penney, L., Philippe, C., Piccolo, G., Poulton, C., Putoux, A., Rio, M., Rougeot, C., Salpietro, V., Scheffer, I., Schneider, A., Srivastava, S., Straussberg, R., Striano, P., Valente, E. M., Venot, P., Villard, L., Vitobello, A., Wagner, J., Wagner, M., Zaki, M. S., Zara, F., Lesca, G., Yassaee, V. R., Miryounesi, M., Hashemi-Gorji, F., Beiraghi, M., Ashrafzadeh, F., Galehdari, H., Walsh, C., Novelli, A., Tacke, M., Sadykova, D., Maidyrov, Y., Koneev, K., Shashkin, C., Capra, V., Zamani, M., Van Maldergem, L., Burglen, L. & Piard, J., 09.2023, In: EUR J HUM GENET. 31, 9, p. 1023-1031 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
Figlioli, G., Billaud, A., Ahearn, T. U., Antonenkova, N. N., Becher, H., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blok, M. J., Bogdanova, N. V., Bonanni, B., Burwinkel, B., Camp, N. J., Campbell, A., Castelao, J. E., Cessna, M. H., Chanock, S. J., Czene, K., Devilee, P., Dörk, T., Engel, C., Eriksson, M., Fasching, P. A., Figueroa, J. D., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., González-Neira, A., Grassmann, F., Guénel, P., Gündert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harrington, P. A., He, W., Hillemanns, P., Hollestelle, A., Hooning, M. J., Hoppe, R., Howell, A., Humphreys, K., Jager, A., Jakubowska, A., Khusnutdinova, E. K., Ko, Y-D., Kristensen, V. N., Lindblom, A., Lissowska, J., Lubiński, J., Mannermaa, A., Manoukian, S., Margolin, S., Mavroudis, D., Newman, W. G., Obi, N., Panayiotidis, M. I., Rashid, M. U., Rhenius, V., Rookus, M. A., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Shah, M., Sironen, R., Southey, M. C., Suvanto, M., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., van der Kolk, L. E., van Veen, E. M., Wappenschmidt, B., Yang, X. R., Bolla, M. K., Dennis, J., Dunning, A. M., Easton, D. F., Lush, M., Michailidou, K., Pharoah, P. D. P., Adank, M. A., Schmidt, M. K., Andrulis, I. L., Chang-Claude, J., Nevanlinna, H., Chenevix-Trench, G., Evans, D. G., Milne, R. L., Radice, P., Peterlongo, P. & NBCS Collaborators, 05.2023, In: EUR J HUM GENET. 31, 5, p. 578-587 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Aerden, M., Denommé-Pichon, A-S., Bonneau, D., Bruel, A-L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Tran Mau-Them, F., Viora-Dupont, É., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P-Y., Julia, S., Philippe, A., Schaefer, E., Koene, S., Ruivenkamp, C., Hoffer, M., Legius, E., Theunis, M., Keren, B., Buratti, J., Charles, P., Courtin, T., Misra-Isrie, M., van Haelst, M., Waisfisz, Q., Wieczorek, D., Schmetz, A., Herget, T., Kortüm, F., Lisfeld, J., Debray, F-G., Bramswig, N. C., Atallah, I., Fodstad, H., Jouret, G., Almoguera, B., Tahsin-Swafiri, S., Santos-Simarro, F., Palomares-Bralo, M., López-González, V., Kibaek, M., Tørring, P. M., Renieri, A., Bruno, L. P., Õunap, K., Wojcik, M., Hsieh, T-C., Krawitz, P. & Van Esch, H., 04.2023, In: EUR J HUM GENET. 31, 4, p. 461-468 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2022
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
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
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
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
- 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies
Gripp, K. W., Smithson, S. F., Scurr, I. J., Baptista, J., Majumdar, A., Pierre, G., Williams, M., Henderson, L. B., Wentzensen, I. M., McLaughlin, H., Leeuwen, L., Simon, M. E. H., van Binsbergen, E., Dinulos, M. B. P., Kaplan, J. D., McRae, A., Superti-Furga, A., Good, J-M. & Kutsche, K., 09.2021, In: EUR J HUM GENET. 29, 9, p. 1384-1395 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., de Munnik, S., Bongers, E. M. H. F., Murray, J., Pachter, N., Denecke, J., Kutsche, K. & Bicknell, L. S., 07.2021, In: EUR J HUM GENET. 29, 7, p. 1110-1120 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Lissewski, C., Chune, V., Pantaleoni, F., De Luca, A., Capri, Y., Brinkmann, J., Lepri, F., Daniele, P., Leenders, E., Mazzanti, L., Scarano, E., Radio, F. C., Kutsche, K., Kuechler, A., Gérard, M., Ranguin, K., Legendre, M., Vial, Y., van der Burgt, I., Rinne, T., Andreucci, E., Mastromoro, G., Digilio, M. C., Cave, H., Tartaglia, M. & Zenker, M., 01.2021, In: EUR J HUM GENET. 29, 1, p. 51-60 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
Gripp, K. W., Baker, L., Robbins, K. M., Stabley, D. L., Bellus, G. A., Kolbe, V., Nauth, T. & Rosenberger, G., 11.2020, In: EUR J HUM GENET. 28, 11, p. 1548-1554 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 10.2020, In: EUR J HUM GENET. 28, 10, p. 1422-1431 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Verheije, R., Kupchik, G. S., Isidor, B., Kroes, H. Y., Lynch, S. A., Hawkes, L., Hempel, M., Gelb, B. D., Ghoumid, J., D'Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T. D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T. M., van Binsbergen, E., Devriendt, K., Breckpot, J. & DDD Study, 02.2019, In: EUR J HUM GENET. 27, 2, p. 278-290 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2018
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis
Holsten, T., Bens, S., Oyen, F., Nemes, K., Hasselblatt, M., Kordes, U., Siebert, R., Frühwald, M. C., Schneppenheim, R. & Schüller, U., 08.2018, In: EUR J HUM GENET. 26, 8, p. 1083-1093 11 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Molecular genetic overlap between migraine and major depressive disorder
Yang, Y., Zhao, H., Boomsma, D. I., Ligthart, L., Belin, A. C., Smith, G. D., Esko, T., Freilinger, T. M., Hansen, T. F., Ikram, M. A., Kallela, M., Kubisch, C., Paraskevi, C., Strachan, D. P., Wessman, M., van den Maagdenberg, A. M. J. M., Terwindt, G. M., Nyholt, D. R. & International Headache Genetics Consortium, 08.2018, In: EUR J HUM GENET. 26, 8, p. 1202-1216 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., 05.2018, In: EUR J HUM GENET. 26, 5, p. 695-708 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
Hu, H., Hübner, C., Lukacs, Z., Musante, L., Gill, E., Wienker, T. F., Ropers, H-H., Knierim, E. & Schuelke, M., 02.2017, In: EUR J HUM GENET. 25, 2, p. 253-256 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Girisha, K. M., Kortüm, F., Shah, H., Alawi, M., Dalal, A., Bhavani, G. S. & Kutsche, K., 01.08.2016, In: EUR J HUM GENET. 24, 8, p. 1206-10Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2015
Next-generation sequencing in X-linked intellectual disability
Tzschach, A., Grasshoff, U., Beck-Woedl, S., Dufke, C., Bauer, C., Kehrer, M., Evers, C., Moog, U., Oehl-Jaschkowitz, B., Di Donato, N., Maiwald, R., Jung, C., Kuechler, A., Schulz, S., Meinecke, P., Spranger, S., Kohlhase, J., Seidel, J., Reif, S., Rieger, M., Riess, A., Sturm, M., Bickmann, J., Schroeder, C., Dufke, A., Riess, O. & Bauer, P., 10.2015, In: EUR J HUM GENET. 23, 11, p. 1513-8 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical utility gene card for Werner Syndrome - Update 2014
Hisama, F. M., Kubisch, C., Martin, G. M. & Oshima, J., 06.2015, In: EUR J HUM GENET. 23, 6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G. & Kutsche, K., 2015, In: EUR J HUM GENET. 23, 2, p. 256-259Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2014
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Graul-Neumann, L. M., Deichsel, A., Wille, U., Kakar, N., Koll, R., Bassir, C., Ahmad, J., Cormier-Daire, V., Mundlos, S., Kubisch, C., Borck, G., Klopocki, E., Mueller, T. D., Doelken, S. C. & Seemann, P., 01.06.2014, In: EUR J HUM GENET. 22, 6, p. 726-33 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2013
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
Leutermann, R., Sheikhzadeh, S., Brockstädt, L., Rybczynski, M., van Rahden, V., Kutsche, K., Kodolitsch, Y. & Rosenberger, G., 06.11.2013, In: EUR J HUM GENET. 22, p. 944-948Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
Roncarati, R., Viviani Anselmi, C., Krawitz, P., Lattanzi, G., von Kodolitsch, Y., Perrot, A., di Pasquale, E., Papa, L., Portararo, P., Columbaro, M., Forni, A., Faggian, G., Condorelli, G. & Robinson, P. N., 10.2013, In: EUR J HUM GENET. 21, 10, p. 1105-1111 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
Beck, B. B., Baasner, A., Buescher, A., Habbig, S., Reintjes, N., Kemper, M. J., Sikora, P., Mache, C., Pohl, M., Stahl, M., Toenshoff, B., Pape, L., Fehrenbach, H., Jacob, D. E., Grohe, B., Wolf, M. T., Nürnberg, G., Yigit, G., Salido, E. C. & Hoppe, B., 01.02.2013, In: EUR J HUM GENET. 21, 2, p. 162-72 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2012
Discrepancies in reporting the CAG repeat lengths for Huntington's disease
Quarrell, O. W., Handley, O., O'Donovan, K., Dumoulin, C., Ramos-Arroyo, M., Biunno, I., Bauer, P., Kline, M., Landwehrmeyer, G. B. & European Huntington’s Disease Network, 01.2012, In: EUR J HUM GENET. 20, 1, p. 20-6 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical utility gene card for: adrenoleukodystrophy.
Krasemann, E., Kemp, S. & Gal, A., 2012, In: EUR J HUM GENET. 20, 3, 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical utility gene card for: Fabry disease.
Gal, A., Beck, M. & Winchester, B., 2012, In: EUR J HUM GENET. 20, 2, 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical utility gene card for: mucopolysaccharidosis type II.
Beck, M., Wijburg, F. A. & Gal, A., 2012, In: EUR J HUM GENET. 20, 1, 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical utility gene card for: Werner syndrome.
Hisama, F. M., Kubisch, C., Martin, G. M. & Oshima, J., 2012, In: EUR J HUM GENET. 20, 5, 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
Klopocki, E., Kähler, C., Foulds, N., Shah, H., Joseph, B., Vogel, H., Lüttgen, S., Bald, R., Besoke, R., Held, K., Mundlos, S. & Kurth, I., 2012, In: EUR J HUM GENET. 20, 6, p. 705-708 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.
Forstbauer, L. M., Brockschmidt, F. F., Moskvina, V., Herold, C., Redler, S., Herzog, A., Hillmer, A. M., Meesters, C., Heilmann, S., Albert, F., Alblas, M., Hanneken, S., Eigelshoven, S., Giehl, K. A., Jagielska, D., Blume-Peytavi, U., Natalie, G. B., Kuhn, J., Hennies, H. C., Goebeler, M., Jung, A., Peitsch, W. K., Kortüm, A-K., Moll, I., Kruse, R., Lutz, G., Wolff, H., Blaumeiser, B., Böhm, M., Kirov, G., Becker, T., Nöthen, M. M. & Betz, R. C., 2012, In: EUR J HUM GENET. 20, 3, p. 326-332 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification and functional analysis of novel THAP1 mutations.
Lohmann, K., Uflacker, N., Erogullari, A., Lohnau, T., Winkler, S., Dendorfer, A., Schneider, S. A., Osmanovic, A., Svetel, M., Ferbert, A., Zittel, S., Kühn, A. A., Schmidt, A., Altenmüller, E., Münchau, A., Kamm, C., Wittstock, M., Kupsch, A., Moro, E., Volkmann, J., Kostic, V., Kaiser, F. J., Klein, C. & Brüggemann, N., 2012, In: EUR J HUM GENET. 20, 2, p. 171-175 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
Babovic-Vuksanovic, D., Messiaen, L., Nagel, C., Brems, H., Scheithauer, B., Denayer, E., Mao, R., Sciot, R., Janowski, K. M., Schuhmann, M. U., Claes, K., Beert, E., Garrity, J. A., Spinner, R. J., Stemmer-Rachamimov, A., Gavrilova, R., Frank, V. C., Mautner, V. F. & Legius, E., 2012, In: EUR J HUM GENET. 20, 6, p. 618-625 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
Schmitt, I., Wüllner, U., Rooyen, V., Pierre, J., Khazneh, H., Becker, J., Volk, A., Kubisch, C., Becker, T., Kostic, V. S., Klein, C. & Ramirez, A., 2012, In: EUR J HUM GENET. 20, 12, p. 1265-1269 12.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2010
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl, D. J., Segel, R., Born, A. P., Conrad, C., Loeys, B., Brooks, S. S., Müller, L., Zeschnigk, C., Botti, C., Rabinowitz, R., Uyanik, G., Crocq, M-A., Kraus, U., Degen, I. & Faes, F., 2010, In: EUR J HUM GENET. 18, 10, p. 1100-1106 10.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2009
Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis.
Wawrzik, M., Spiess, A-N., Herrmann, R., Buiting, K. & Horsthemke, B., 2009, In: EUR J HUM GENET.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Harmsen, M-B., Azzarello-Burri, S., González, G., Mar, M., Gillessen-Kaesbach, G., Meinecke, P., Müller, D., Rauch, A., Rossier, E., Seemanova, E., Spaich, C., Steiner, B., Wieczorek, D., Kutsche, K. & Kutsche, K., 2009, In: EUR J HUM GENET. 17, 10, p. 1207-1215 10.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2008
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.
Steinmann, K., Kluwe, L., Cooper, D. N., Brems, H., Thomas, D. R., Legius, E., Mautner, V. F. & Kehrer-Sawatzki, H., 2008, In: EUR J HUM GENET. 16, 5, p. 572-580 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2007
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martínez-Garay, I., Tomás, M., Oltra, S., Ramser, J., Moltó, M. D., Prieto, F., Meindl, A., Kutsche, K. & Martínez, F., 2007, In: EUR J HUM GENET. 15, 1, p. 29-34 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2006
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Tomatsu, S., Sukegawa, K., Trandafirescu, G. G., Gutierrez, M. A., Nishioka, T., Yamaguchi, S., Orii, T., Froissart, R., Maire, I., Chabas, A., Cooper, A., Paola, D. N., Gal, A., Noguchi, A. & Sly, W. S., 2006, In: EUR J HUM GENET. 14, 7, p. 838-845 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2001
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W. L., Chen, Y. T., Schneppenheim, R. & Schaub, J., 2001, In: EUR J HUM GENET. 9, 5, p. 388-391 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review