Browse by Journal Title

2024

Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons.
Gutierrez Fugón, O.J., Sharifi, O., Heath, N., Soto, D.C., Gomez, J.A., Yasui, D.H., Mendiola, A.J.P., O'Geen, He., Beitnere, U., Tomkova, M., Haghani, V., Dillon, G., Segal, D.J. and LaSalle, J.M.
Human Molecular Genetics 33 (19): 1711-1725. 1 October 2024

2022

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt, F., Ellinghaus, D., Juzenas, S., Lerga-Jaso, J., Wendorff, M., Maya-Miles, D., Uellendahl-Werth, F., ElAbd, H., Rühlemann, M.C., Arora, J., Özer, O., Lenning, O.B., Myhre, R., Vadla, M.S., Wacker, E.M., Wienbrandt, L., Ortiz, A.B., de Salazar, A., Chercoles, A.G., Palom, A., Ruiz, A., Garcia-Fernandez, A.E., Blanco-Grau, A., Mantovani, A., Zanella, A., Holten, A.R., Mayer, A., Bandera, A., Cherubini, A., Protti, A., Aghemo, A., Gerussi, A., Ramirez, A., Braun, A., Nebel, A., Barreira, A., Lleo, A., Teles, A., Kildal, A.B., Biondi, A., Caballero-Garralda, A., Ganna, A., Gori, A., Glück, A., Lind, A., Tanck, A., Hinney, A., Nolla, A.C., Fracanzani, A.L., Peschuck, A., Cavallero, A., Dyrhol-Riise, A.M., Ruello, A., Julià, A., Muscatello, A., Pesenti, A., Voza, A., Rando-Segura, A., Solier, A., Schmidt, A., Cortes, B., Mateos, B., Nafria-Jimenez, B., Schaefer, B., Jensen, B., Bellinghausen, C., Maj, C., Ferrando, C., Horra, C., Quereda, C., Skurk, C., Thibeault, C., Scollo, C., Herr, C., Spinner, C.D., Gassner, C., Lange, C., Hu, C., Paccapelo, C., Lehmann, C., Angelini, C., Cappadona, C., Azuure, C., Bianco, C., Cea, C., Sancho, C., Hoff, D.A.L., Galimberti, D., Prati, D., Haschka, D., Jiménez, D., Pestaña, D., Toapanta, D., Muñiz-Diaz, E., Azzolini, E., Sandoval, E., Binatti, E., Scarpini, E., Helbig, E.T., Casalone, E., Urrechaga, E., Paraboschi, E.M., Pontali, E., Reverter, E., Calderón, E.J., Navas, E., Solligård, E., Contro, E., Arana-Arri, E., Aziz, F., Garcia, F., Sánchez, F.G., Ceriotti, F., Martinelli-Boneschi, F., Peyvandi, F., Kurth, F., Blasi, F., Malvestiti, F., Medrano, F.J., Mesonero, F., Rodriguez-Frias, F., Hanses, F., Müller, F., Hemmrich-Stanisak, G., Bellani, G., Grasselli, G., Pezzoli, G., Costantino, G., Albano, G., Cardamone, G., Bellelli, G., Citerio, G., Foti, G., Lamorte, G., Matullo, G., Baselli, G., Kurihara, H., Neb, H., My, I., Kurth, I., Hernández, I., Pink, I., Rojas, I., Galván-Femenia, I., Holter, J.C., Afset, J.E., Heyckendorf, J., Kässens, J., Damås, J.K., Rybniker, J., Altmüller, J., Ampuero, J., Martín, J., Erdmann, J., Banales, J.M., Badia, J.R., Dopazo, J., Schneider, J., Bergan, J., Barretina, J., Walter, J., Quero, J.H., Goikoetxea, J., Delgado, J., Guerrero, J.M., Fazaal, J., Kraft, J., Schröder, J., Risnes, K., Banasik, K., Müller, K.E., Gaede, K.I., Garcia-Etxebarria, K., Tonby, K., Heggelund, L., Izquierdo-Sanchez, L., Bettini, L.Rachele, Sumoy, L., Sander, L.E., Lippert, L.J., Terranova, L., Nkambule, L., Knopp, L., Gustad, L.T., Garbarino, L., Santoro, L., Téllez, L., Roade, L., Ostadreza, M., Intxausti, M., Kogevinas, M., Riveiro-Barciela, M., Berger, M.M., Schaefer, M., Niemi, M.E.K., Gutiérrez-Stampa, M.A., Carrabba, M., Figuera Basso, M.E., Valsecchi, M.G., Hernandez-Tejero, M., Vehreschild, M.J.G.T, Manunta, M., Acosta-Herrera, M., D'Angiò, M., Baldini, M., Cazzaniga, M., Grimsrud, M.M., Cornberg, M., Nöthen, M.M., Marquié, M., Castoldi, M., Cordioli, M., Cecconi, M., D'Amato, M., Augustin, M., Tomasi, M., Boada, M., Dreher, M., Seilmaier, M.J., Joannidis, M., Wittig, M., Mazzocco, M., Ciccarelli, M., Rodríguez-Gandía, M., Bocciolone, M., Miozzo, M., Ayo, N.I., Blay, N., Chueca, N., Montano, N., Braun, N., Ludwig, N., Marx, N., Martínez, N., Cornely, O.A., Witzke, O., Palmieri, O., Faverio, P., Preatoni, P., Bonfanti, P., Omodei, P., Tentorio, P., Castro, P., Rodrigues, P.M., España, P.P., Hoffmann, P., Rosenstiel, P., Schommers, P., Suwalski, P., Pablo, R., Ferrer, R., Bals, R., Gualtierotti, R., Gallego-Durán, R., Nieto, R., Carpani, R., Morilla, R., Badalamenti, S., Haider, S., Ciesek, S., May, S., Bombace, S., Marsal, S., Pigazzini, S., Klein, S., Pelusi, S., Wilfling, S., Bosari, S., Volland, S., Brunak, S., Raychaudhuri, S., Schreiber, S., Heilmann-Heimbach, S., Aliberti, S., Ripke, S., Dudman, S., Wesse, T., Zheng, T., Bahmer, T., Eggermann, T., Illig, T., Brenner, T., Pumarola, T., Feldt, T., Folseraas, T., Cejudo, T.G., Landmesser, U., Protzer, U., Hehr, U., Rimoldi, V., Monzani, V., Skogen, V., Keitel, V., Kopfnagel, V., Friaza, V., Andrade, V., Moreno, V., Albrecht, W., Peter, W., Poller, W., Farre, X., Yi, X., Wang, X., Khodamoradi, Y., Karadeniz, Z., Latiano, A., Goerg, S., Bacher, P., Koehler, P., Tran, F., Zoller, H., Schulte, E.C., Heidecker, B., Ludwig, K.U., Fernández, J., Romero-Gómez, M., Albillos, A., Invernizzi, P., Buti, M., Duga, S., Bujanda, L., Hov, J.R., Lenz, T.L., Asselta, R., Cid, R., Valenti, L., Karlsen, T.H., Cáceres, M. and Franke, A.
Human Molecular Genetics 31 (23): 3945-3966. 1 December 2022

2021

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran, E., Jühlen, R., Vieira-Vieira, C.H., Ha, T., Salzberg, Y., Fichtman, B., Luise-Becker, L., Martins, N., Picker-Minh, S., Bessa, P., Arts, P., Jackson, M.R., Taranath, A., Kamien, B., Barnett, C., Li, N., Tarabykin, V., Stoltenburg-Didinger, G., Harel, A., Selbach, M., Dickmanns, A., Fahrenkrog, B., Hu, H., Scott, H. and Kaindl, A.M.
Human Molecular Genetics 30 (22): 2068-2081. 15 November 2021

2020

LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation.
Christ, A., Marczenke, M. and Willnow, T.E.
Human Molecular Genetics 29 (19): 3183-3196. 1 October 2020

2019

Microtubule cytoskeleton regulates connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.
Macquart, C., Jüttner, R., Le Dour, C., Chatzifrangkeskou, M., Schmitt, A., Gotthardt, M., Bonne, G. and Muchir, A.
Human Molecular Genetics 28 (24): 4043-4052. 15 December 2019

2018

Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations.
Irmak, D., Fatima, A., Gutiérrez-Garcia, R., Rinschen, M.M., Wagle, P., Altmüller, J., Arrigoni, L., Hummel, B., Klein, C., Frese, C.K., Sawarkar, R., Rada-Iglesias, A. and Vilchez, D.
Human Molecular Genetics 27 (23): 4117-4134. 1 December 2018

Deep learning of genomic variation and regulatory network data.
Telenti, A., Lippert, C., Chang, P.C. and DePristo, M.
Human Molecular Genetics 27 (R1): R63-R71. 1 May 2018

Predominant patterns of splicing evolution on human, chimpanzee, and macaque evolutionary lineages.
Xiong, J., Xi, J., Ditsiou, A., Gao, Y., Sun, J., Lowenstein, E.D., Huang, S. and Khaitovich, P.
Human Molecular Genetics 27 (8): 1474-1485. 15 April 2018

De novo mutations implicate novel genes in systemic lupus erythematosus.
Pullabhatla, V., Roberts, A.L., Lewis, M.J., Mauro, D., Morris, D.L., Odhams, C.A., Tombleson, P., Liljedahl, U., Vyse, S., Simpson, M.A., Sauer, S., de Rinaldis, E., Syvänen, A.C. and Vyse, T.J.
Human Molecular Genetics 27 (3): 421-429. 1 February 2018

2017

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nürnberg, G., Thoenes, M., Becker, J., Altmüller, J., Volk, A.E., Kubisch, C. and Heller, R.
Human Molecular Genetics 26 (20): 4055-4066. 15 October 2017

2016

The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Seifert, W., Posor, Y., Schu, P., Stenbeck, G., Mundlos, S., Klaassen, S., Nürnberg, P., Haucke, V., Kornak, U. and Kühnisch, J.
Human Molecular Genetics 25 (17): 3836-3848. 1 September 2016

Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD.
Riechers, S.P., Butland, S., Deng, Y., Skotte, N., Ehrnhoefer, D.E., Russ, J., Laine, J., Laroche, M., Pouladi, M.A., Wanker, E.E., Hayden, M.R. and Graham, R.K.
Human Molecular Genetics 25 (8): 1600-1618. May 2016

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Bartram, M.P., Habbig, S., Pahmeyer, C., Höhne, M., Weber, L.T., Thiele, H., Altmüller, J., Kottoor, N., Wenzel, A., Krueger, M., Schermer, B., Benzing, T., Rinschen, M.M. and Beck, B.B.
Human Molecular Genetics 25 (6): 1152-1164. 15 March 2016

2015

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk, T., Pannicke, U., Reisli, I., Bulashevska, A., Ritter, J., Björkman, A., Schäffer, A.A., Fliegauf, M., Sayar, E.H., Salzer, U., Fisch, P., Pfeifer, D., Di Virgilio, M., Cao, H., Yang, F., Zimmermann, K., Keles, S., Caliskaner, Z., Güner, S.Ü., Schindler, D., Hammarström, L., Rizzi, M., Hummel, M., Pan-Hammarstroem, Q., Schwarz, K. and Grimbacher, B.
Human Molecular Genetics 24 (25): 7361-7372. 20 December 2015

Homozygous loss-of-function variants in european cosmopolitan and isolate populations.
Kaiser, V.B., Svinti, V., Prendergast, J.G., Chau, Y.Y., Campbell, A., Patarcic, I., Barroso, I., Joshi, P.K., Hastie, N.D., Miljkovic, A., Taylor, M.S., Enroth, S., Memari, Y., Kolb-Kokocinski, A., Wright, A.F., Gyllensten, U., Durbin, R., Rudan, I., Campbell, H., Polašek, O., Johansson, A., Sauer, S., Porteous, D.J., Fraser, R.M., Drake, C., Vitart, V., Hayward, C., Semple, C.A. and Wilson, J.F.
Human Molecular Genetics 24 (19): 5464-5474. 1 October 2015

Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.
Philippi, S., Lorain, S., Beley, C., Peccate, C., Precigout, G., Spuler, S. and Garcia, L.
Human Molecular Genetics 24 (14): 4049-4060. 15 July 2015

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin, N., Elcioglu, N.H., Beleggia, F., Isgüven, P., Altmüller, J., Thiele, H., Steindl, K., Joset, P., Rauch, A., Nürnberg, P., Wollnik, B. and Yigit, G.
Human Molecular Genetics 24 (13): 3708-3717. 1 July 2015

Role of Foxl2 in uterine maturation and function.
Bellessort, B., Bachelot, A., Heude, É., Alfama, G., Fontaine, A., Le Cardinal, M., Treier, M. and Levi, G.
Human Molecular Genetics 24 (11): 3092-3103. 1 June 2015

Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis, and epicanthus inversus syndrome.
Heude, É., Bellessort, B., Fontaine, A., Hamazaki, M., Treier, A.C., Treier, M., Levi, G. and Narboux-Neme, N.
Human Molecular Genetics 24 (6): 1670-1681. 15 March 2015

2014

SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease.
Ramirez, A., van der Flier, W.M., Herold, C., Ramonet, D., Heilmann, S., Lewczuk, P., Popp, J., Lacour, A., Drichel, D., Louwersheimer, E., Kummer, M.P., Cruchaga, C., Hoffmann, P., Teunissen, C., Holstege, H., Kornhuber, J., Peters, O., Naj, A.C., Chouraki, V., Bellenguez, C., Gerrish, A., Heun, R., Froelich, L., Huell, M., Buscemi, L., Herms, S., Koelsch, H., Scheltens, P., Breteler, M.M., Ruether, E., Wiltfang, J., Goate, A., Jessen, F., Maier, W., Heneka, M.T., Becker, T. and Noethen, M.M.
Human Molecular Genetics 23 (24): 6644-6658. 15 December 2014

Lack of CCM1 induces hypersprouting and impairs response to flow.
Mleynek, T.M., Chan, A.C., Redd, M., Gibson, C.C., Davis, C.T., Shi, D.S., Chen, T., Carter, K.L., Ling, J., Blanco, R., Gerhardt, H., Whitehead, K. and Li, D.Y.
Human Molecular Genetics 23 (23): 6223-6234. 1 December 2014

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan, M.A., Rupp, V.M., Orpinell, M., Hussain, M.S., Altmüller, J., Steinmetz, M.O., Enzinger, C., Thiele, H., Höhne, W., Nürnberg, G., Baig, S.M., Ansar, M., Nürnberg, P., Vincent, J.B., Speicher, M.R., Gönczy, P. and Windpassinger, C.
Human Molecular Genetics 23 (22): 5940-5949. 15 November 2014

16p11.2 600 kb duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler, E.M., Lal, D., Lebon, S., Hildebrand, M.S., Dahl, H.H.M., Regan, B.M., Feucht, M., Steinboeck, H., Neophytou, B., Ronen, G.M., Roche, L., Gruber-Sedlmayr, U., Geldner, J., Haberlandt, E., Hoffmann, P., Herms, S., Gieger, C., Waldenberger, M., Franke, A., Wittig, M., Schoch, S., Becker, A.J., Hahn, A., Maennik, K., Toliat, M.R., Winterer, G., Lerche, H., Nuernberg, P., Mefford, H., Scheffer, I.E., Berkovic, S.F., Beckmann, J.S., Sander, T., Jacquemont, S., Reymond, A., Zimprich, F. and Neubauer, B.A.
Human Molecular Genetics 23 (22): 6069-6080. 15 November 2014

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
Butland, S.L., Sanders, S.S., Schmidt, M.E., Riechers, S.P., Lin, D.T.S., Martin, D.D.O., Vaid, K., Graham, R.K., Singaraja, R.R., Wanker, E.E., Conibear, E. and Hayden, M.R.
Human Molecular Genetics 23 (15): 4142-4160. 1 August 2014

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.
Grunert, M., Dorn, C., Schueler, M., Dunkel, I., Schlesinger, J., Mebus, S., Alexi-Meskishvili, V., Perrot, A., Wassilew, K., Timmermann, B., Hetzer, R., Berger, F. and Sperling, S.R.
Human Molecular Genetics 23 (12): 3115-3128. 15 June 2014

Restoration of muscle strength in dystrophic muscle by Angiotensin-1-7 through inhibition of TGF-β signaling.
Acuna, M.J., Pessina, P., Olguin, H., Cabrera, D., Vio, C.P., Bader, M., Munoz-Canoves, P., Santos, R.A., Cabello-Verrugio, C. and Brandan, E.
Human Molecular Genetics 23 (5): 1237-1249. 1 March 2014

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau, C., Bonnemann, C.G., Julien, C., Kho, A.L., Marks, H., Talim, B., Maury, P., Arne-Bes, M.C., Uro-Coste, E., Alexandrovich, A., Vihola, A., Schafer, S., Kaufmann, B., Medne, L., Hübner, N., Foley, A.R., Santi, M., Udd, B., Topaloglu, H., Moore, S.A., Gotthardt, M., Samuels, M.E., Gautel, M. and Ferreiro, A.
Human Molecular Genetics 23 (4): 980-991. 15 February 2014

2013

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Szczepanski, S., Nürnberg, G., Tariq, M., Jameel, M., Khan, T.N., Fatima, A., Malik, N.A., Ahmad, I., Altmüller, J., Frommolt, P., Thiele, H., Höhne, W., Yigit, G., Wollnik, B., Neubauer, B.A., Nürnberg, P. and Noegel, A.A.
Human Molecular Genetics 22 (25): 5199-5214. 20 December 2013

Myc inhibition impairs autophagosome formation.
Toh, P.P.C., Luo, S., Menzies, F.M., Raskó, T., Wanker, E.E. and Rubinsztein, D.C.
Human Molecular Genetics 22 (25): 5237-5248. 20 December 2013

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., Alanay, Y., Kayserili, H., Klein-Hitpass, L., Böhringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., Cogulu, O., Cristofoli, F., Czeschik, J.C., Devriendt, K., Dotti, M.T., Elcioglu, N., Gener, B., Goecke, T.O., Krajewska-Walasek, M., Guillén-Navarro, E., Hayek, J., Houge, G., Kilic, E., Simsek-Kiper, P.Ö., López-González, V., Kuechler, A., Lyonnet, S., Mari, F., Marozza, A., Mathieu Dramard, M., Mikat, B., Morin, G., Morice-Picard, F., Ozkinay, F., Rauch, A., Renieri, A., Tinschert, S., Utine, G.E., Vilain, C., Vivarelli, R., Zweier, C., Nürnberg, P., Rahmann, S., Vermeesch, J., Lüdecke, H.J., Zeschnigk, M. and Wollnik, B.
Human Molecular Genetics 22 (25): 5121-5135. 20 December 2013

Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.
Krause, C., Rosewich, H., Woehler, A. and Gärtner, J.
Human Molecular Genetics 22 (19): 3844-3857. 1 October 2013

2012

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Steffens, M., Leu, C., Ruppert, A.K., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., La Neve, A., Crichiutti, G., de Kovel, C.G.F., Kasteleijn-Nolst Trenite, D., de Haan, G.J., Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y.G., Becker, F., Lerche, H., Steinhoff, B.J., Kleefuss-Lie, A.A., Kunz, W.S., Surges, R., Elger, C.E., Muhle, H., von Spiczak, S., Ostertag, P., Helbig, I., Stephani, U., Moller, R.S., Hjalgrim, H., Dibbens, L.M., Bellows, S., Oliver, K., Mullen, S., Scheffer, I.E., Berkovic, S.F., Everett, K.V., Gardiner, M.R., Marini, C., Guerrini, R., Lehesjoki, A.E., Siren, A., Guipponi, M., Malafosse, A., Thomas, P., Nabbout, R., Baulac, S., Leguern, E., Guerrero, R., Serratosa, J.M., Reif, P.S., Rosenow, F., Mörzinger, M., Feucht, M., Zimprich, F., Kapser, C., Schankin, C.J., Suls, A., Smets, K., De Jonghe, P., Jordanova, A., Caglayan, H., Yapici, Z., Yalcin, D.A., Baykan, B., Bebek, N., Ozbek, U., Gieger, C., Wichmann, H.E., Balschun, T., Ellinghaus, D., Franke, A., Meesters, C., Becker, T, Wienker, T.F., Hempelmann, A., Schulz, H., Rueschendorf, F., Leber, M., Pauck, S.M., Trucks, H., Toliat, M.R., Nuernberg, P., Avanzini, G., Koeleman, B.P. and Sander, T.
Human Molecular Genetics 21 (24): 5359-5372. 15 December 2012

2011

The X-chromosome linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.
Kunde, S.A., Musante, L., Grimme, A., Fischer, U., Mueller, E., Wanker, E.E. and Kalscheuer, V.M.
Human Molecular Genetics 20 (24): 4916-4931. 15 December 2011

MeCP2 Rett mutations affect large scale chromatin organization.
Agarwal, N., Becker, A., Jost, K.L., Haase, S., Thakur, B.K., Brero, A., Hardt, T., Kudo, S., Leonhardt, H. and Cardoso, M.C.
Human Molecular Genetics 20 (21): 4187-4195. 1 November 2011

The eczema risk variant on chromosome 11q13 (rs7927894) in the population-based ALSPAC cohort: a novel susceptibility factor for asthma and hay fever.
Marenholz, I., Bauerfeind, A., Esparza-Gordillo, J., Kerscher, T., Granell, R., Nickel, R., Lau, S., Henderson, J. and Lee, Y.A.
Human Molecular Genetics 20 (12): 2443-2449. 15 June 2011

2010

Genetic regulation of catecholamine synthesis, storage and secretion in the spontaneously hypertensive rat.
Jirout, M.L., Friese, R.S., Mahapatra, N.R., Mahata, M., Taupenot, L., Mahata, S.K., Kren, V., Zidek, V., Fischer, J., Maatz, H., Ziegler, M.G., Pravenec, M., Huebner, N., Aitman, T.J., Schork, N.J. and O'Connor, D.T.
Human Molecular Genetics 19 (13): 2567-2580. 1 July 2010

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
Maass, P.G., Wirth, J., Aydin, A., Rump, A., Stricker, S., Tinschert, S., Otero, M., Tsuchimochi, K., Goldring, M.B., Luft, F.C. and Bähring, S.
Human Molecular Genetics 19 (5): 848-860. 1 March 2010

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.
Ratelade, J., Arrondel, C., Hamard, G., Garbay, S., Harvey, S., Biebuyck, N., Schulz, H., Hastie, N., Pontoglio, M., Gubler, M.C., Antignac, C. and Heidet, L.
Human Molecular Genetics 19 (1): 1-15. 1 January 2010

2009

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens, L.M., Mullen, S., Helbig, I., Mefford, H.C., Bayly, M.A., Bellows, S., Leu, C., Trucks, H., Obermeier, T., Wittig, M., Franke, A., Caglayan, H., Yapici, Z., Sander, T., Eichler, E.E., Scheffer, I.E., Mulley, J.C. and Berkovic, S.F.
Human Molecular Genetics 18 (19): 3626-3631. 1 October 2009

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying Acromesomelic Dysplasia type Maroteaux.
Hume, A.N., Buttgereit, J., Al-Awadhi, A.M., Al-Suwaidi, S.S., John, A., Bader, M., Seabra, M.C., Al-Gazali, L. and Ali, B.R.
Human Molecular Genetics 18 (2): 267-277. 15 January 2009

2008

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M.G., Bublak, A., Naegele, H., Scheffold, T., Dietz, R., Chien, K.R., Spuler, S., Fuerst, D.O., Nuernberg, P. and Oezcelik, C.
Human Molecular Genetics 17 (18): 2753-2765. 15 September 2008

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M.C., Erdogan, F., Owen, M.J., Ropers, H.H. and Ullmann, R.
Human Molecular Genetics 17 (3): 458-465. 1 February 2008

2007

Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
Ruf, N., Bähring, S., Galetzka, D., Pliushch, G., Luft, F.C., Nuernberg, P., Haaf, T., Kelsey, G. and Zechner, U.
Human Molecular Genetics 16 (21): 2591-2599. 1 November 2007

SNP genome scanning localises oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner ear disease and FADD in ocular coloboma.
Gregory-Evans, C.Y., Moosajee, M., Hodges, M.D., Mackay, D.S., Game, L., Vargesson, N., Bloch-Zupan, A., Rueschendorf, F., Santos-Pinto, L., Wackens, G. and Gregory-Evans, K.
Human Molecular Genetics 16 (20): 2482-2493. 15 October 2007

Association of attentional network function with exon 5 variations of the CHRNA4 gene.
Winterer, G., Musso, F., Konrad, A., Vucurevic, G., Stoeter, P., Sander, T. and Gallinat, J.
Human Molecular Genetics 16 (18): 2165-2174. 15 September 2007

L1 retrotransposition can occur early in human embryonic development.
van den Hurk, J.A., Meij, I.C., Seleme, M.C., Kano, H., Nikopoulos, K., Hoefsloot, L.H., Sistermans, E.A., de Wijs, I.J., Mukhopadhyay, A., Plomp, A.S., de Jong, P.T., Kazazian, H.H. and Cremers, F.P.
Human Molecular Genetics 16 (13): 1587-1592. 1 July 2007

2006

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature sensitive phenotype.
Oji, V., Hautier, J.M., Ahvazi, B., Hausser, I., Aufenvenne, K., Walker, T., Seller, N., Steijlen, P.M., Kuester, W., Hovnanian, A., Hennies, H.C. and Traupe, H.
Human Molecular Genetics 15 (21): 3083-3097. 1 November 2006

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
Dempfle, A., Wudy, S.A., Saar, K., Hagemann, S., Friedel, S., Scherag, A., Berthold, L.D., Alzen, G., Gortner, L., Blum, W.F., Hinney, A., Nuernberg, P., Schaefer, H. and Hebebrand, J.
Human Molecular Genetics 15 (18): 2772-2783. 15 September 2006

Green tea (-)-epigallocatechin-gallate modulates early events in huntingtin misfolding and reduces toxicity in Huntington's disease models.
Ehrnhoefer, D.E., Duennwald, M., Markovic, P., Wacker, J.L., Engemann, S., Roark, M., Legleiter, J., Marsh, J.L., Thompson, L.M., Lindquist, S., Muchowski, P.J. and Wanker, E.E.
Human Molecular Genetics 15 (18): 2743-2751. 15 September 2006

Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.
Hannan, F., Ho, I., Tong, J., Zhu, Y., Nuernberg, P. and Zhong, Y.
Human Molecular Genetics 15 : 1087-1098. 1 April 2006

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.
Mueller, D., Kausalya, P.J., Meij, I.C. and Hunziker, W.
Human Molecular Genetics 15 (7): 1049-1058. 1 April 2006

2005

Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
Ralser, M., Nonhoff, U., Albrecht, M., Lengauer, T., Wanker, E.E., Lehrach, H. and Krobitsch, S.
Human Molecular Genetics 14 (19): 2893-2909. 22 August 2005

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
zur Stadt, U., Schmidt, S., Kasper , B., Beutel, K., Diler, A.S., Henter, J.I., Kabisch, H., Schneppenheim, R., Nuernberg, P., Janka, G. and Hennies, H.C.
Human Molecular Genetics 14 (6): 827-834. 1 January 2005

2004

Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.
Knoblauch, H., Bauerfeind, A., Toliat, M.R., Becker, C., Luganskaja, T., Guenther, U.P., Rohde, K., Schuster, H., Junghans, C., Luft, F.C., Nuernberg, P. and Reich, J.G.
Human Molecular Genetics 13 (10): 993-1004. 15 May 2004

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
Albrecht, A.N., Kornak, U., Boeddrich, A., Suering, K., Robinson, P.N., Stiege, A.C., Lurz, R., Stricker, S., Wanker, E.E. and Mundlos, S.
Human Molecular Genetics 13 (20): 2351-2359. 1 January 2004

Gene-ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.
Robinson, P.N., Boehme, U., Lopez, R., Mundlos, S. and Nuernberg, P.
Human Molecular Genetics 13 (17): 1969-1978. 1 January 2004

Over-expression of angiotensin converting enzyme-1 augments cardiac hypertrophy in transgenic rats.
Tian, X.L., Pinto, Y.M., Costerousse, O., Franz, W.M., Lippoldt, A., Hoffmann, S., Unger, T. and Paul, M.
Human Molecular Genetics 13 (14): 1441-1450. 1 January 2004

2003

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
Gong, M., Zhang, H.Y., Schulz, H., Lee, Y.A., Sun, K., Bähring, S., Luft, F.C., Nürnberg, P., Reis, A., Rohde, K., Ganten, D., Hui, R.T. and Hübner, N.
Human Molecular Genetics 12 (11): 1273-1277. 1 June 2003

Transgenic rat model of Huntington's disease.
von Hoersten, S., Schmitt, I., Nguyen, H.P., Holzmann, C., Schmidt, T., Walther, T., Bader, M., Pabst, R., Kobbe, P., Krotova, J., Stiller, D., Kask, A., Vaarmann, A., Rathke-Hartlieb, S., Schulz, J.B., Grasshoff, U., Bauer, I., Vieira-Saecker, A.M.M., Paul, M., Jones, L., Lindenberg, K.S., Landwehrmeyer, B., Bauer, A., Li, X.J. and Riess, O.
Human Molecular Genetics 12 (6): 617-624. 15 March 2003

Differential binding of transcription factor E2F-2 to the endothelin-converting enzyme-1b promoter affects blood pressure regulation.
Funke-Kaiser, H., Reichenberger, F., Koepke, K., Herrmann, S.M., Pfeifer, J., Orzechowski, H.D., Zidek, W., Paul, M. and Brand, E.
Human Molecular Genetics 12 (4): 423-433. 15 February 2003

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).
Fitze, G., Appelt, H., Koenig, I.R., Goergens, H., Stein, U., Walther, W., Gossen, M., Schreiber, M., Ziegler, A., Roesner, D. and Schackert, H.K.
Human Molecular Genetics 12 (24): 3207-3214. 1 January 2003

Interaction between blood pressure quantitative trait loci in rats in which trait variation at chromosome 1 is conditional upon a specific allele at chromosome 10.
Monti, J., Plehm, R., Schulz, H., Ganten, D., Kreutz, R. and Hübner, N.
Human Molecular Genetics 12 (4): 435-439. 1 January 2003

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly.
Shultz, L.D., Lyons, B.L., Burzenski, L.M., Gott, B., Samuels, R., Schweitzer, P.A., Dreger, C., Herrmann, H., Kalscheuer, V., Olins, A.L., Olins, D.E., Sperling, K. and Hoffmann, K.
Human Molecular Genetics 12 (1): 61-69. 1 January 2003

Impact of selection, mutation rate and genetic drift on human genetic variation.
Sunyaev, S., Kondrashov, F.A., Bork, P. and Ramensky, V.
Human Molecular Genetics 12 (24): 3325-3330. 1 January 2003

2002

Ion channel diseases.
Huebner, C.A. and Jentsch, T.J.
Human Molecular Genetics 11 (20): 2435-2445. 1 October 2002

Common exon duplication in animals and its role in alternative splicing.
Letunic, I., Copley, R.R. and Bork, P.
Human Molecular Genetics 11 : 1561-1567. 15 June 2002

Common haplotypes in five genes influence genetic variance of LDL and HDL cholesterol in the general population.
Knoblauch, H., Bauerfeind, A., Kraehenbuehl, C., Daury, A., Rohde, K., Bejanin, S., Essioux, L., Schuster, H., Luft, F.C. and Reich, J.
Human Molecular Genetics 11 (12): 1477-1485. 1 June 2002

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
De Angelis, E., Watkins, A., Schaefer, M., Bruemmendorf, T. and Kenwrick, S.
Human Molecular Genetics 11 (1): 1-12. 1 January 2002

STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study.
Duetsch, G., Illig, T., Loesgen, S., Rohde, K., Klopp, N., Herbon, N., Gohlke, H., Altmueller, J. and Wjst, M.
Human Molecular Genetics 11 (6): 613-621. 1 January 2002

WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis.
Guo, J.K., Menke, A.L., Gubler, M.C., Clarke, A.R., Harrison, D., Hammes, A., Hastie, N.D. and Schedl, A.
Human Molecular Genetics 11 (6): 651-659. 1 January 2002

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
Marr, N., Bichet, D.G., Lonergan, M., Arthus, M.F., Jeck, N., Seyberth, H.W., Rosenthal, W., van Os, C.H., Oksche, A. and Deen, P.M.
Human Molecular Genetics 11 (7): 779-789. 2002

2001

Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients.
Sathasivam, K., Woodman, B., Mahal, A., Bertaux, F., Wanker, E.E., Shima, D.T. and Bates, G.P.
Human Molecular Genetics 10 : 2425-2435. 1 October 2001

The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis.
Waelter, S., Scherzinger, E., Hasenbank, R., Nordhoff, E., Lurz, R., Goehler, H., Gauss, C., Sathasivam, K., Bates, G.P., Lehrach, H. and Wanker, E.E.
Human Molecular Genetics 10 : 1807-1817. 15 August 2001

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch, U.E., Leo-Kottler, B., Mayer, S., Jurklies, B., Kellner, U., Apfelstedt-Sylla, E., Zrenner, E., Alexander, C. and Wissinger, B.
Human Molecular Genetics 10 : 1359-1368. 15 June 2001

BACE knockout mice are healthy despite lacking the primary beta-secretase activity in brain: implications for Alzheimer's disease therapeutics.
Roberds, S.L., Anderson, J., Basi, G., Bienkowski, M.J., Branstetter, D.G., Chen, K.S., Freedman, S.B., Frigon, N.L., Games, D., Hu, K., Johnson-Wood, K., Kappenman, K.E., Kawabe, T.T., Kola, I., Kuehn, R., Lee, M., Liu, W., Motter, R., Nichols, N.F., Power, M., Robertson, D.W., Schenk, D., Schoor, M., Shopp, GM., Shuck, M.E., Sinha, S., Svensson, K.A., Tatsuno, G., Tintrup, H., Wijsman, J., Wright, S. and McConlogue, L.
Human Molecular Genetics 10 (12): 1317-1324. 1 June 2001

Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease.
Sittler, A., Lurz, R., Lueder, G., Priller, J., Lehrach, H., Hayer-Hartl, M.K., Hartl, F.U. and Wanker, E.E.
Human Molecular Genetics 10 : 1307-1315. 1 June 2001

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
Handschug, K., Sperling, S., Yoon, S.J., Hennig, S., Clark, A.J. and Huebner, A.
Human Molecular Genetics 10 (3): 283-290. 1 February 2001

The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly.
Huynen, M.A., Snel, B., Bork, P. and Gibson, T.J.
Human Molecular Genetics 10 (21): 2463-2468. 1 January 2001

Prediction of deleterious human alleles.
Sunyaev, S.R., Ramensky, V., Koch, I., Lathe, W., Kondrashov, A.S. and Bork, P.
Human Molecular Genetics 10 (6): 591-597. 1 January 2001

2000

Sequence variability and candidate gene analysis in complex disease: association of mu opioid receptor gene variation with substance dependence.
Hoehe, M.R., Koepke, K., Wendel, B., Rohde, K., Flachmeier, C., Kidd, K.K., Berrettini, W.H. and Church, G.M.
Human Molecular Genetics 9 (19): 2895-2908. 22 November 2000

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
Kornak, U., Schulz, A., Friedrich, W., Uhlhaas, S., Kremens, B., Voit, T., Hasan, C., Bode, U., Jentsch, T.J. and Kubisch, C.
Human Molecular Genetics 9 (13): 2059-2063. 12 August 2000

Genome search for susceptibility loci of common idiopathic generalised epilepsies.
Sander, T., Schulz, H., Saar, K., Gennaro, E., Riggio, M.C., Bianchi, A., Zara, F., Luna, D., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., Picard, F., Prud'-homme, J.F., Bate, L., Sundquist, A., Gardiner, R.M., Janssen, G.A.M.A., de Haan, G.J., Kasteleijn-Nolst-Trenite, D.G.A., Bader, A., Lindhout, D., Riess, O., Wienker, T.F., Janz, D. and Reis, A.
Human Molecular Genetics 9 : 1465-1472. 12 June 2000

1999

Formation of polyglutamine inclusions in non-CNS tissue.
Sathasivam, K., Hobbs, C., Turmaine, M., Mangiarini, L., Mahal, A., Bertaux, F., Wanker, E.E., Doherty, P., Davies, S.W. and Bates, G.P.
Human Molecular Genetics 8 : 813-822. 1 May 1999

1998

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch, C., Schmidt-Rose, T., Fontaine, B., Bretag, A.H. and Jentsch, T.J.
Human Molecular Genetics 7 (11): 1753-1760. October 1998

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
Klose, A., Ahmadian, M.R., Schuelke, M., Scheffzek, K., Hoffmeyer, S., Gewies, A., Schmitz, F., Kaufmann, D., Peters, H., Wittinghofer, A. and Nuernberg, P.
Human Molecular Genetics 7 (8): 1261-1268. August 1998

Ataxin-3 is transported into the nucleus and associates with the nuclear matrix.
Tait, D., Riccio, M., Sittler, A., Scherzinger, E., Santi, S., Ognibene, A., Maraldi, N.M., Lehrach, H. and Wanker, E.E.
Human Molecular Genetics 7 (6): 991-997. June 1998

1997

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
Struk, B., Neldner, K.H., Rao, V.S., Stjean, P. and Lindpaintner, K.
Human Molecular Genetics 6 (11): 1823-1828. October 1997

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
Wollnik, B., Schroeder, B.C., Kubisch, C., Esperer, H.D., Wieacker, P. and Jentsch, T.J.
Human Molecular Genetics 6 (11): 1943-1949. October 1997

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
Lloyd, S.E., Gunther, W., Pearce, S.H., Thomson, A., Bianchi, M.L., Bosio, M., Craig, I.W., Fisher, S.E., Scheinman, S.J., Wrong, O., Jentsch, T.J. and Thakker, R.V.
Human Molecular Genetics 6 (8): 1233-1239. August 1997

A genome wide search for susceptibility loci in three european malignant hyperthermia pedigrees.
Robinson, R.I., Monnier, N., Wolz, W., Jung, M., Reis, A., Nuernberg, G., Curran, J.L., Monsieurs, K., Stieglitz, P., Heytens, L., Fricker, R., Vanbroeckhoven, C., Deufel, T., Hopkins, P.M., Lunardi, J. and Mueller, C.R.
Human Molecular Genetics 6 (6): 953-961. June 1997

HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system.
Wanker, E.E., Rovira, C., Scherzinger, E., Hasenbank, R., Walter, S., Tait, D., Colicelli, J. and Lehrach, H.
Human Molecular Genetics 6 (3): 487-495. 1 March 1997

1996

Linkage of the gene for the triple a syndrome to chromosome 12q13 near the type II keratin gene cluster.
Weber, A., Wienker, T.F., Jung, M., Easton, D., Dean, H.J., Heinrichs, C., Reis, A. and Clark, A.J.L.
Human Molecular Genetics 5 (12): 2061-2066. 1 December 1996

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).
Kelsell, D.P., Risk, J.M., Leigh, I.M., Stevens, H.P., Ellis, A., Hennies, H.C., Reis, A., Weissenbach, J., Bishop, D.T., Spurr, N.K. and Field, J.K.
Human Molecular Genetics 5 : 857-860. 1 January 1996

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.
Lenk, U., Oexle, K., Voit, T., Ancker, U., Hellner, K.A., Speer, A. and Huebner, C.
Human Molecular Genetics 5 : 973-975. 1 January 1996

1995

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.
Hennies, H.C., Kuester, W., Mischke, D. and Reis, A.
Human Molecular Genetics 4 : 1015-1020. 1 January 1995

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
Varon, R., Magdorf, K., Staab, D., Wahn, H.U., Krawczak, M., Sperling, K. and Reis, A.
Human Molecular Genetics 4 : 1463-1464. 1 January 1995

1994

E-selectin polymorphism and atherosclerosis: an association study.
Wenzel, K., Felix, S., Kleber, F.X., Brachold, R., Menke, T., Schattke, S., Schulte, K.L., Glaser, C., Rohde, K. and Baumann, G.
Human Molecular Genetics 3 (11): 1935-1937. 1 November 1994

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
Lorenz, C., Meyer-Kleine, C., Steinmeyer, K., Koch, M.C. and Jentsch, T.J.
Human Molecular Genetics 3 (6): 941-946. June 1994

Trinucleotide repeat polymorphism at the PKLR locus.
Lenzner, C., Jacobasch, G., Reis, A., Thiele, B. and Nuernberg, P.
Human Molecular Genetics 3 : 523-523. 1 January 1994

1993

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.
Lenk, U., Hanke, R., Thiele, H. and Speer, A.
Human Molecular Genetics 2 (11): 1877-1881. 1 November 1993

Three dinucleotide microsatellite polymorphisms on human chromosome 13.
Hennies, H.C. and Reis, A.
Human Molecular Genetics 2 : 87. 1 January 1993

Dinucleotide repeat polymorphism at the locus D13S231.
Saksova, L., Hennies, H.C. and Reis, A.
Human Molecular Genetics 2 : 1082. 1 January 1993

A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q.
Watkins, H., MacRae, C., Thierfelder, L.H., McKenna, W.J., Seidman, C.E. and Seidman, J.G.
Human Molecular Genetics 2 : 1084-1084. 1 January 1993