An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing von Pennacchio, Len A., Olivier, Michael, Hubacek, Jaroslav A., Cohen, Jonathan C., Cox, David R., Fruchart, Jean-Charles, Krauss, Ronald M., Rubin, Edward M.

Volltext

Guidelines for investigating causality of sequence variants in human disease von MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W., Gunter, C.

Volltext

Apolipoprotein A5, a Newly Identified Gene That Affects Plasma Triglyceride Levels in Humans and Mice von Pennacchio, Len A, Rubin, Edward M

Volltext

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients von Bleyl, S B, Moshrefi, A, Shaw, G M, Saijoh, Y, Schoenwolf, G C, Pennacchio, L A, Slavotinek, A M

Volltext

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice von Myers, Richard M, Pennacchio, Len A, Bouley, Donna M, Higgins, Kay M, Scott, Matthew P, Noebels, Jeffrey L

Volltext

Functional anatomy of distant-acting mammalian enhancers von Dickel, D. E., Visel, A., Pennacchio, L. A.

Volltext

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study von Calton, Melissa A., Ersoy, Baran A., Zhang, Sumei, Kane, John P., Malloy, Mary J., Pullinger, Clive R., Bromberg, Yana, Pennacchio, Len A., Dent, Robert, McPherson, Ruth, Ahituv, Nadav, Vaisse, Christian

Volltext

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia von Slavotinek, AM, Moshrefi, A, Lopez Jiminez, N, Chao, R, Mendell, A, Shaw, GM, Pennacchio, LA, Bates, MD

Volltext

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels von Pennacchio, Len A., Olivier, Michael, Hubacek, Jaroslav A., Krauss, Ronald M., Rubin, Edward M., Cohen, Jonathan C.

Volltext

VISTA Enhancer Browser--a database of tissue-specific human enhancers von Visel, Axel, Minovitsky, Simon, Dubchak, Inna, Pennacchio, Len A

Volltext

Apolipoprotein A-V Deficiency Results in Marked Hypertriglyceridemia Attributable to Decreased Lipolysis of Triglyceride-Rich Lipoproteins and Removal of Their Remnants von Grosskopf, Itamar, Baroukh, Nadine, Lee, Sung-Joon, Kamari, Yehuda, Harats, Dror, Rubin, Edward M, Pennacchio, Len A, Cooper, Allen D

Volltext

Metagenomic Discovery of Biomass-Degrading Genes and Genomes from Cow Rumen von Hess, Matthias, Sczyrba, Alexander, Egan, Rob, Kim, Tae-Wan, Chokhawala, Harshal, Schroth, Gary, Luo, Shujun, Clark, Douglas S., Chen, Feng, Zhang, Tao, Mackie, Roderick I., Pennacchio, Len A., Tringe, Susannah G., Visel, Axel, Woyke, Tanja, Wang, Zhong, Rubin, Edward M.

Volltext

Genomic strategies to identify mammalian regulatory sequences von Pennacchio, Len A, Rubin, Edward M

Volltext

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1) von Pennacchio, Len A., Lehesjoki, Anna-Elina, Stone, Nancy E., Willour, Virginia L., Virtaneva, Kimmo, Miao, Jinmin, D'Amato, Elena, Ramirez, Lucia, Faham, Malek, Koskiniemi, Marjaleena, Warrington, Janet A., Norio, Reijo, de la Chapelle, Albert, Cox, David R., Myers, Richard M.

Volltext

Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers von Gotea, Valer, Visel, Axel, Westlund, John M, Nobrega, Marcelo A, Pennacchio, Len A, Ovcharenko, Ivan

Volltext

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) von Giorgio, Elisa, Robyr, Daniel, Spielmann, Malte, Ferrero, Enza, Di Gregorio, Eleonora, Imperiale, Daniele, Vaula, Giovanna, Stamoulis, Georgios, Santoni, Federico, Atzori, Cristiana, Gasparini, Laura, Ferrera, Denise, Canale, Claudio, Guipponi, Michel, Pennacchio, Len A, Antonarakis, Stylianos E, Brussino, Alessandro, Brusco, Alfredo

Volltext

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes von LIEUALLEN, Kimberly, PENNACCHIO, Len A, PARK, Morgan, MYERS, Richard M, LENNON, Gregory G

Volltext

Human-Specific Gain of Function in a Developmental Enhancer von Prabhakar, Shyam, Visel, Axel, Akiyama, Jennifer A, Shoukry, Malak, Lewis, Keith D, Holt, Amy, Plajzer-Frick, Ingrid, Morrison, Harris, FitzPatrick, David R, Afzal, Veena, Pennacchio, Len A, Rubin, Edward M, Noonan, James P

Volltext

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1 von Chapelle, Albert de la, Dieguez-Lucena, José L, Myers, Richard M, Pennacchio, Len A, Koskiniemi, Marjaleena, Tassinari, Carlo A, D'Amato, Elena, Michelucci, Roberto, Omer, Salah, Avanzini, Giuliano, Franceschetti, Silvana, Krahe, Ralf, Lehesjoki, Anna-Elina, Norio, Reijo, Miao, Jinmin, Virtaneva, Kimmo

Volltext

Linkage and Association Between Distinct Variants of the APOA1/C3/A4/A5 Gene Cluster and Familial Combined Hyperlipidemia von Eichenbaum-Voline, Sophie, Olivier, Michael, Jones, Emma L, Naoumova, Rossitza P, Jones, Bethan, Gau, Brian, Patel, Hetal N, Seed, Mary, Betteridge, D John, Galton, David J, Rubin, Edward M, Scott, James, Shoulders, Carol C, Pennacchio, Len A

Volltext