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


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


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


Deep learning of genomic variation and regulatory network data.
Telenti, A. and Lippert, C. and 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. and Xi, J. and Ditsiou, A. and Gao, Y. and Sun, J. and Lowenstein, E.D. and 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. and Roberts, A.L. and Lewis, M.J. and Mauro, D. and Morris, D.L. and Odhams, C.A. and Tombleson, P. and Liljedahl, U. and Vyse, S. and Simpson, M.A. and Sauer, S. and de Rinaldis, E. and Syvänen, A.C. and Vyse, T.J.
Human Molecular Genetics 27 (3): 421-429. 1 February 2018


The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Seifert, W. and Posor, Y. and Schu, P. and Stenbeck, G. and Mundlos, S. and Klaassen, S. and Nürnberg, P. and Haucke, V. and 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. and Butland, S. and Deng, Y. and Skotte, N. and Ehrnhoefer, D.E. and Russ, J. and Laine, J. and Laroche, M. and Pouladi, M.A. and Wanker, E.E. and Hayden, M.R. and Graham, R.K.
Human Molecular Genetics 25 (8): 1600-1618. May 2016


DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk, T. and Pannicke, U. and Reisli, I. and Bulashevska, A. and Ritter, J. and Björkman, A. and Schäffer, A.A. and Fliegauf, M. and Sayar, E.H. and Salzer, U. and Fisch, P. and Pfeifer, D. and Di Virgilio, M. and Cao, H. and Yang, F. and Zimmermann, K. and Keles, S. and Caliskaner, Z. and Güner, S.Ü. and Schindler, D. and Hammarström, L. and Rizzi, M. and Hummel, M. and Pan-Hammarstroem, Q. and 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. and Svinti, V. and Prendergast, J.G. and Chau, Y.Y. and Campbell, A. and Patarcic, I. and Barroso, I. and Joshi, P.K. and Hastie, N.D. and Miljkovic, A. and Taylor, M.S. and Enroth, S. and Memari, Y. and Kolb-Kokocinski, A. and Wright, A.F. and Gyllensten, U. and Durbin, R. and Rudan, I. and Campbell, H. and Polašek, O. and Johansson, A. and Sauer, S. and Porteous, D.J. and Fraser, R.M. and Drake, C. and Vitart, V. and Hayward, C. and 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. and Lorain, S. and Beley, C. and Peccate, C. and Precigout, G. and Spuler, S. and Garcia, L.
Human Molecular Genetics 24 (14): 4049-4060. 15 July 2015

Role of Foxl2 in uterine maturation and function.
Bellessort, B. and Bachelot, A. and Heude, É. and Alfama, G. and Fontaine, A. and Le Cardinal, M. and 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. and Bellessort, B. and Fontaine, A. and Hamazaki, M. and Treier, A.C. and Treier, M. and Levi, G. and Narboux-Neme, N.
Human Molecular Genetics 24 (6): 1670-1681. 15 March 2015


SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease.
Ramirez, A. and van der Flier, W.M. and Herold, C. and Ramonet, D. and Heilmann, S. and Lewczuk, P. and Popp, J. and Lacour, A. and Drichel, D. and Louwersheimer, E. and Kummer, M.P. and Cruchaga, C. and Hoffmann, P. and Teunissen, C. and Holstege, H. and Kornhuber, J. and Peters, O. and Naj, A.C. and Chouraki, V. and Bellenguez, C. and Gerrish, A. and Heun, R. and Froelich, L. and Huell, M. and Buscemi, L. and Herms, S. and Koelsch, H. and Scheltens, P. and Breteler, M.M. and Ruether, E. and Wiltfang, J. and Goate, A. and Jessen, F. and Maier, W. and Heneka, M.T. and 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. and Chan, A.C. and Redd, M. and Gibson, C.C. and Davis, C.T. and Shi, D.S. and Chen, T. and Carter, K.L. and Ling, J. and Blanco, R. and Gerhardt, H. and Whitehead, K. and Li, D.Y.
Human Molecular Genetics 23 (23): 6223-6234. 1 December 2014

16p11.2 600 kb duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler, E.M. and Lal, D. and Lebon, S. and Hildebrand, M.S. and Dahl, H.H.M. and Regan, B.M. and Feucht, M. and Steinboeck, H. and Neophytou, B. and Ronen, G.M. and Roche, L. and Gruber-Sedlmayr, U. and Geldner, J. and Haberlandt, E. and Hoffmann, P. and Herms, S. and Gieger, C. and Waldenberger, M. and Franke, A. and Wittig, M. and Schoch, S. and Becker, A.J. and Hahn, A. and Maennik, K. and Toliat, M.R. and Winterer, G. and Lerche, H. and Nuernberg, P. and Mefford, H. and Scheffer, I.E. and Berkovic, S.F. and Beckmann, J.S. and Sander, T. and Jacquemont, S. and Reymond, A. and 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. and Sanders, S.S. and Schmidt, M.E. and Riechers, S.P. and Lin, D.T.S. and Martin, D.D.O. and Vaid, K. and Graham, R.K. and Singaraja, R.R. and Wanker, E.E. and 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. and Dorn, C. and Schueler, M. and Dunkel, I. and Schlesinger, J. and Mebus, S. and Alexi-Meskishvili, V. and Perrot, A. and Wassilew, K. and Timmermann, B. and Hetzer, R. and 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. and Pessina, P. and Olguin, H. and Cabrera, D. and Vio, C.P. and Bader, M. and Munoz-Canoves, P. and Santos, R.A. and 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. and Bonnemann, C.G. and Julien, C. and Kho, A.L. and Marks, H. and Talim, B. and Maury, P. and Arne-Bes, M.C. and Uro-Coste, E. and Alexandrovich, A. and Vihola, A. and Schafer, S. and Kaufmann, B. and Medne, L. and Hübner, N. and Foley, A.R. and Santi, M. and Udd, B. and Topaloglu, H. and Moore, S.A. and Gotthardt, M. and Samuels, M.E. and Gautel, M. and Ferreiro, A.
Human Molecular Genetics 23 (4): 980-991. 15 February 2014


Myc inhibition impairs autophagosome formation.
Toh, P.P.C. and Luo, S. and Menzies, F.M. and Raskó, T. and Wanker, E.E. and Rubinsztein, D.C.
Human Molecular Genetics 22 (25): 5237-5248. 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. and Rosewich, H. and Woehler, A. and Gärtner, J.
Human Molecular Genetics 22 (19): 3844-3857. 1 October 2013


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


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. and Musante, L. and Grimme, A. and Fischer, U. and Mueller, E. and 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. and Becker, A. and Jost, K.L. and Haase, S. and Thakur, B.K. and Brero, A. and Hardt, T. and Kudo, S. and 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. and Bauerfeind, A. and Esparza-Gordillo, J. and Kerscher, T. and Granell, R. and Nickel, R. and Lau, S. and Henderson, J. and Lee, Y.A.
Human Molecular Genetics 20 (12): 2443-2449. 15 June 2011


Genetic regulation of catecholamine synthesis, storage and secretion in the spontaneously hypertensive rat.
Jirout, M.L. and Friese, R.S. and Mahapatra, N.R. and Mahata, M. and Taupenot, L. and Mahata, S.K. and Kren, V. and Zidek, V. and Fischer, J. and Maatz, H. and Ziegler, M.G. and Pravenec, M. and Huebner, N. and Aitman, T.J. and 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. and Wirth, J. and Aydin, A. and Rump, A. and Stricker, S. and Tinschert, S. and Otero, M. and Tsuchimochi, K. and Goldring, M.B. and Luft, F.C. and Baehring, 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. and Arrondel, C. and Hamard, G. and Garbay, S. and Harvey, S. and Biebuyck, N. and Schulz, H. and Hastie, N. and Pontoglio, M. and Gubler, M.C. and Antignac, C. and Heidet, L.
Human Molecular Genetics 19 (1): 1-15. 1 January 2010


Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens, L.M. and Mullen, S. and Helbig, I. and Mefford, H.C. and Bayly, M.A. and Bellows, S. and Leu, C. and Trucks, H. and Obermeier, T. and Wittig, M. and Franke, A. and Caglayan, H. and Yapici, Z. and Sander, T. and Eichler, E.E. and Scheffer, I.E. and 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. and Buttgereit, J. and Al-Awadhi, A.M. and Al-Suwaidi, S.S. and John, A. and Bader, M. and Seabra, M.C. and Al-Gazali, L. and Ali, B.R.
Human Molecular Genetics 18 (2): 267-277. 15 January 2009


Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier, C. and Gehmlich, K. and Ehler, E. and Hassfeld, S. and Perrot, A. and Hayess, K. and Cardim, N. and Wenzel, K. and Erdmann, B. and Krackhardt, F. and Posch, M.G. and Bublak, A. and Naegele, H. and Scheffold, T. and Dietz, R. and Chien, K.R. and Spuler, S. and Fuerst, D.O. and 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. and Gumus, D. and Chen, W. and Norton, N. and Georgieva, L. and Sari, M. and O'Donovan, M.C. and Erdogan, F. and Owen, M.J. and Ropers, H.H. and Ullmann, R.
Human Molecular Genetics 17 (3): 458-465. 1 February 2008


Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
Ruf, N. and Bahring, S. and Galetzka, D. and Pliushch, G. and Luft, F.C. and Nuernberg, P. and Haaf, T. and 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. and Moosajee, M. and Hodges, M.D. and Mackay, D.S. and Game, L. and Vargesson, N. and Bloch-Zupan, A. and Rueschendorf, F. and Santos-Pinto, L. and 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. and Musso, F. and Konrad, A. and Vucurevic, G. and Stoeter, P. and 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. and Meij, I.C. and Seleme, M.C. and Kano, H. and Nikopoulos, K. and Hoefsloot, L.H. and Sistermans, E.A. and de Wijs, I.J. and Mukhopadhyay, A. and Plomp, A.S. and de Jong, P.T. and Kazazian, H.H. and Cremers, F.P.
Human Molecular Genetics 16 (13): 1587-1592. 1 July 2007


Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature sensitive phenotype.
Oji, V. and Hautier, J.M. and Ahvazi, B. and Hausser, I. and Aufenvenne, K. and Walker, T. and Seller, N. and Steijlen, P.M. and Kuester, W. and Hovnanian, A. and 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. and Wudy, S.A. and Saar, K. and Hagemann, S. and Friedel, S. and Scherag, A. and Berthold, L.D. and Alzen, G. and Gortner, L. and Blum, W.F. and Hinney, A. and Nuernberg, P. and 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. and Duennwald, M. and Markovic, P. and Wacker, J.L. and Engemann, S. and Roark, M. and Legleiter, J. and Marsh, J.L. and Thompson, L.M. and Lindquist, S. and 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. and Ho, I. and Tong, J. and Zhu, Y. and 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. and Kausalya, P.J. and Meij, I.C. and Hunziker, W.
Human Molecular Genetics 15 (7): 1049-1058. 1 April 2006


Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
Ralser, M. and Nonhoff, U. and Albrecht, M. and Lengauer, T. and Wanker, E.E. and 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. and Schmidt, S. and Kasper , B. and Beutel, K. and Diler, A.S. and Henter, J.I. and Kabisch, H. and Schneppenheim, R. and Nuernberg, P. and Janka, G. and Hennies, H.C.
Human Molecular Genetics 14 (6): 827-834. 1 January 2005


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. and Bauerfeind, A. and Toliat, M.R. and Becker, C. and Luganskaja, T. and Guenther, U.P. and Rohde, K. and Schuster, H. and Junghans, C. and Luft, F.C. and 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. and Kornak, U. and Boeddrich, A. and Suering, K. and Robinson, P.N. and Stiege, A.C. and Lurz, R. and Stricker, S. and 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. and Boehme, U. and Lopez, R. and 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. and Pinto, Y.M. and Costerousse, O. and Franz, W.M. and Lippoldt, A. and Hoffmann, S. and Unger, T. and Paul, M.
Human Molecular Genetics 13 (14): 1441-1450. 1 January 2004


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

Transgenic rat model of Huntington's disease.
von Hoersten, S. and Schmitt, I. and Nguyen, H.P. and Holzmann, C. and Schmidt, T. and Walther, T. and Bader, M. and Pabst, R. and Kobbe, P. and Krotova, J. and Stiller, D. and Kask, A. and Vaarmann, A. and Rathke-Hartlieb, S. and Schulz, J.B. and Grasshoff, U. and Bauer, I. and Vieira-Saecker, A.M.M. and Paul, M. and Jones, L. and Lindenberg, K.S. and Landwehrmeyer, B. and Bauer, A. and 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. and Reichenberger, F. and Koepke, K. and Herrmann, S.M. and Pfeifer, J. and Orzechowski, H.D. and Zidek, W. and 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. and Appelt, H. and Koenig, I.R. and Goergens, H. and Stein, U. and Walther, W. and Gossen, M. and Schreiber, M. and Ziegler, A. and 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. and Plehm, R. and Schulz, H. and Ganten, D. and Kreutz, R. and Huebner, 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. and Lyons, B.L. and Burzenski, L.M. and Gott, B. and Samuels, R. and Schweitzer, P.A. and Dreger, C. and Herrmann, H. and Kalscheuer, V. and Olins, A.L. and Olins, D.E. and 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. and Kondrashov, F.A. and Bork, P. and Ramensky, V.
Human Molecular Genetics 12 (24): 3325-3330. 1 January 2003


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. and 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. and Bauerfeind, A. and Kraehenbuehl, C. and Daury, A. and Rohde, K. and Bejanin, S. and Essioux, L. and Schuster, H. and 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. and Watkins, A. and Schaefer, M. and 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. and Illig, T. and Loesgen, S. and Rohde, K. and Klopp, N. and Herbon, N. and Gohlke, H. and 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. and Menke, A.L. and Gubler, M.C. and Clarke, A.R. and Harrison, D. and Hammes, A. and 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. and Bichet, D.G. and Lonergan, M. and Arthus, M.F. and Jeck, N. and Seyberth, H.W. and Rosenthal, W. and van Os, C.H. and Oksche, A. and Deen, P.M.
Human Molecular Genetics 11 (7): 779-789. 2002


Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients.
Sathasivam, K. and Woodman, B. and Mahal, A. and Bertaux, F. and Wanker, E.E. and 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. and Scherzinger, E. and Hasenbank, R. and Nordhoff, E. and Lurz, R. and Goehler, H. and Gauss, C. and Sathasivam, K. and Bates, G.P. and 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. and Leo-Kottler, B. and Mayer, S. and Jurklies, B. and Kellner, U. and Apfelstedt-Sylla, E. and Zrenner, E. and 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. and Anderson, J. and Basi, G. and Bienkowski, M.J. and Branstetter, D.G. and Chen, K.S. and Freedman, S.B. and Frigon, N.L. and Games, D. and Hu, K. and Johnson-Wood, K. and Kappenman, K.E. and Kawabe, T.T. and Kola, I. and Kuehn, R. and Lee, M. and Liu, W. and Motter, R. and Nichols, N.F. and Power, M. and Robertson, D.W. and Schenk, D. and Schoor, M. and Shopp, GM. and Shuck, M.E. and Sinha, S. and Svensson, K.A. and Tatsuno, G. and Tintrup, H. and Wijsman, J. and 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. and Lurz, R. and Lueder, G. and Priller, J. and Lehrach, H. and Hayer-Hartl, M.K. and 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. and Sperling, S. and Yoon, S.J. and Hennig, S. and 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. and Snel, B. and Bork, P. and Gibson, T.J.
Human Molecular Genetics 10 (21): 2463-2468. 1 January 2001

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


Sequence variability and candidate gene analysis in complex disease: association of mu opioid receptor gene variation with substance dependence.
Hoehe, M.R. and Koepke, K. and Wendel, B. and Rohde, K. and Flachmeier, C. and Kidd, K.K. and 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. and Schulz, A. and Friedrich, W. and Uhlhaas, S. and Kremens, B. and Voit, T. and Hasan, C. and Bode, U. and 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. and Schulz, H. and Saar, K. and Gennaro, E. and Riggio, M.C. and Bianchi, A. and Zara, F. and Luna, D. and Bulteau, C. and Kaminska, A. and Ville, D. and Cieuta, C. and Picard, F. and Prud'-homme, J.F. and Bate, L. and Sundquist, A. and Gardiner, R.M. and Janssen, G.A.M.A. and de Haan, G.J. and Kasteleijn-Nolst-Trenite, D.G.A. and Bader, A. and Lindhout, D. and Riess, O. and Wienker, T.F. and Janz, D. and Reis, A.
Human Molecular Genetics 9 : 1465-1472. 12 June 2000


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


ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch, C. and Schmidt-Rose, T. and Fontaine, B. and 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. and Ahmadian, M.R. and Schuelke, M. and Scheffzek, K. and Hoffmeyer, S. and Gewies, A. and Schmitz, F. and Kaufmann, D. and Peters, H. and 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. and Riccio, M. and Sittler, A. and Scherzinger, E. and Santi, S. and Ognibene, A. and Maraldi, N.M. and Lehrach, H. and Wanker, E.E.
Human Molecular Genetics 7 (6): 991-997. June 1998


Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
Struk, B. and Neldner, K.H. and Rao, V.S. and 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. and Schroeder, B.C. and Kubisch, C. and Esperer, H.D. and 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. and Gunther, W. and Pearce, S.H. and Thomson, A. and Bianchi, M.L. and Bosio, M. and Craig, I.W. and Fisher, S.E. and Scheinman, S.J. and Wrong, O. and 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. and Monnier, N. and Wolz, W. and Jung, M. and Reis, A. and Nuernberg, G. and Curran, J.L. and Monsieurs, K. and Stieglitz, P. and Heytens, L. and Fricker, R. and Vanbroeckhoven, C. and Deufel, T. and Hopkins, P.M. and 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. and Rovira, C. and Scherzinger, E. and Hasenbank, R. and Walter, S. and Tait, D. and Colicelli, J. and Lehrach, H.
Human Molecular Genetics 6 (3): 487-495. 1 March 1997


Linkage of the gene for the triple a syndrome to chromosome 12q13 near the type II keratin gene cluster.
Weber, A. and Wienker, T.F. and Jung, M. and Easton, D. and Dean, H.J. and Heinrichs, C. and 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. and Risk, J.M. and Leigh, I.M. and Stevens, H.P. and Ellis, A. and Hennies, H.C. and Reis, A. and Weissenbach, J. and Bishop, D.T. and 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. and Oexle, K. and Voit, T. and Ancker, U. and Hellner, K.A. and Speer, A. and Huebner, C.
Human Molecular Genetics 5 : 973-975. 1 January 1996


Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.
Hennies, H.C. and Kuester, W. and 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. and Magdorf, K. and Staab, D. and Wahn, H.U. and Krawczak, M. and Sperling, K. and Reis, A.
Human Molecular Genetics 4 : 1463-1464. 1 January 1995


E-selectin polymorphism and atherosclerosis: an association study.
Wenzel, K. and Felix, S. and Kleber, F.X. and Brachold, R. and Menke, T. and Schattke, S. and Schulte, K.L. and Glaser, C. and 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. and Meyer-Kleine, C. and Steinmeyer, K. and 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. and Jacobasch, G. and Reis, A. and Thiele, B. and Nuernberg, P.
Human Molecular Genetics 3 : 523-523. 1 January 1994


Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.
Lenk, U. and Hanke, R. and 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. and 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. and MacRae, C. and Thierfelder, L.H. and McKenna, W.J. and Seidman, C.E. and Seidman, J.G.
Human Molecular Genetics 2 : 1084-1084. 1 January 1993

This list was generated on Mon Jun 27 02:30:52 2022 CEST.
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