Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse.
Molecular Therapy. Methods & Clinical Development
Wein, Nicolas N; Vetter, Tatyana A TA; Vulin, Adeline A; Simmons, Tabatha R TR; Frair, Emma C EC; Bradley, Adrienne J AJ; Gushchina, Liubov V LV; Almeida, Camila F CF; Huang, Nianyuan N; Lesman, Daniel D; Rajakumar, Dhanarajan D; Weiss, Robert B RB; Flanigan, Kevin M KM
Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
American Journal Of Medical Genetics. Part A
Cain, Jacob T JT; Kim, Dae I DI; Quast, Megan M; Shivega, Winnie G WG; Patrick, Ryan J RJ; Moser, Chuanpit C; Reuter, Suzanne S; Perez, Myrza M; Myers, Angela A; Weimer, Jill M JM; Roux, Kyle J KJ; Landsverk, Megan M
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Journal Of Human Genetics
Reddy, Hemakumar M HM; Cho, Kyung-Ah KA; Lek, Monkol M; Estrella, Elicia E; Valkanas, Elise E; Jones, Michael D MD; Mitsuhashi, Satomi S; Darras, Basil T BT; Amato, Anthony A AA; Lidov, Hart Gw HG; Brownstein, Catherine A CA; Margulies, David M DM; Yu, Timothy W TW; Salih, Mustafa A MA; Kunkel, Louis M LM; MacArthur, Daniel G DG; Kang, Peter B PB
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Human Mutation
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Howard, Michael T MT; Sampson, Jacinda B JB; Swoboda, Kathryn J KJ; Bromberg, Mark B MB; Mendell, Jerry R JR; Taylor, Laura E LE; Anderson, Christine B CB; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Wong, Brenda B; Finkel, Richard S RS; Bonnemann, Carsten G CG; Day, John W JW; McDonald, Craig C; , ; Weiss, Robert B RB
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
Bmc Medical Genetics
Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Human Mutation
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Gappmaier, Eduard E; Howard, Michael T MT; Sampson, Jacinda B JB; Mendell, Jerry R JR; Wall, Cheryl C; King, Wendy M WM; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Stephan, Carrie M CM; Laubenthal, Karla S KS; Wong, Brenda L BL; Morehart, Paula J PJ; Meyer, Amy A; Finkel, Richard S RS; Bonnemann, Carsten G CG; Medne, Livija L; Day, John W JW; Dalton, Joline C JC; Margolis, Marcia K MK; Hinton, Veronica J VJ; , ; Weiss, Robert B RB
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
Neuromuscular Disorders : Nmd
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Howard, Michael T MT; Mendell, Jerry J; Connolly, Anne A; Saunders, Carol C; Modrcin, Ann A; Dasouki, Majed M; Comi, Giacomo P GP; Del Bo, Roberto R; Pickart, Angela A; Jacobson, Richard R; Finkel, Richard R; Medne, Livija L; Weiss, Robert B RB