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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3516, doi. 10.1002/ajmg.a.62940
By:
- Keehan, Laura;
- Haviland, Isabel;
- Gofin, Yoel;
- Swanson, Lindsay C.;
- El Achkar, Christelle Moufawad;
- Schreiber, John;
- VanNoy, Grace E.;
- O'Heir, Emily;
- O'Donnell‐Luria, Anne;
- Lewis, Richard Alan;
- Magoulas, Pilar;
- Tran, Alyssa;
- Azamian, Mahshid S.;
- Chao, Hsiao‐Tuan;
- Pham, Lisa;
- Samaco, Rodney C.;
- Elsea, Sarah;
- Thorpe, Erin;
- Kesari, Akanchha;
- Perry, Denise
Publication type:
Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
By:
- Keehan, Laura;
- Jiang, Ming‐Ming;
- Li, Xiaohui;
- Marom, Ronit;
- Dai, Hongzheng;
- Murdock, David;
- Liu, Pengfei;
- Hunter, Jill V.;
- Heaney, Jason D.;
- Robak, Laurie;
- Emrick, Lisa;
- Lotze, Timothy;
- Blieden, Lauren S.;
- Lewis, Richard Alan;
- Levin, Alex V.;
- Capasso, Jenina;
- Craigen, William J.;
- Rosenfeld, Jill A.;
- Lee, Brendan;
- Burrage, Lindsay C.
Publication type:
Article
Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Published in:
2008
By:
- Leitch, Carmen C;
- Zaghloul, Norann A;
- Davis, Erica E;
- Stoetzel, Corinne;
- Diaz-Font, Anna;
- Rix, Suzanne;
- Al-Fadhel, Majid;
- Lewis, Richard Alan;
- Eyaid, Wafaa;
- Banin, Eyal;
- Dollfus, Helene;
- Beales, Philip L;
- Badano, Jose L;
- Katsanis, Nicholas
Publication type:
Correction Notice
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Published in:
Nature Genetics, 2008, v. 40, n. 4, p. 443, doi. 10.1038/ng.97
By:
- Leitch, Carmen C.;
- Zaghloul, Norann A.;
- Davis, Erica E.;
- Stoetzel, Corinne;
- Diaz-Font, Anna;
- Rix, Suzanne;
- Al-Fadhel, Majid;
- Lewis, Richard Alan;
- Eyaid, Wafaa;
- Banin, Eyal;
- Dollfus, Helene;
- Beales, Philip L.;
- Badano, Jose L.;
- Katsanis, Nicholas
Publication type:
Article
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 9, p. 989, doi. 10.1038/ng1414
By:
- Fan, Yanli;
- Esmail, Muneer A.;
- Ansley, Stephen J.;
- Blacque, Oliver E.;
- Boroevich, Keith;
- Ross, Alison J.;
- Moore, Susan J.;
- Badano, Jose L.;
- May-Simera, Helen;
- Compton, Deanna S.;
- Green, Jane S.;
- Lewis, Richard Alan;
- van Haelst, Mieke M.;
- Parfrey, Patrick S.;
- Baillie, David L.;
- Beales, Philip L.;
- Katsanis, Nicholas;
- Davidson, William S.;
- Leroux, Michel R.
Publication type:
Article
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Published in:
PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006905
By:
- Luo, Xi;
- Rosenfeld, Jill A.;
- Yamamoto, Shinya;
- Harel, Tamar;
- Zuo, Zhongyuan;
- Hall, Melissa;
- Wierenga, Klaas;
- Pastore, Matthew T.;
- Bartholomew, Dennis;
- Delgado, Mauricio R.;
- Rotenberg, Joshua;
- Lewis, Richard Alan;
- Emrick, Lisa;
- Bacino, Carlos A.;
- Eldomery, Mohammad K.;
- Coban Akdemir, Zeynep;
- Xia, Fan;
- Yang, Yaping;
- Lalani, Seema R.;
- Lotze, Timothy
Publication type:
Article
Effect of host genetics on the development of cytomegalovirus retinitis in patients with AIDS.
Published in:
2010
By:
- Sezgin E;
- Jabs DA;
- Hendrickson SL;
- Van Natta M;
- Zdanov A;
- Lewis RA;
- Smith MW;
- Troyer JL;
- O'Brien SJ;
- SOCA Research Group;
- Sezgin, Efe;
- Jabs, Douglas A;
- Hendrickson, Sher L;
- Van Natta, Mark;
- Zdanov, Alexander;
- Lewis, Richard Alan;
- Smith, Michael W;
- Troyer, Jennifer L;
- O'Brien, Stephen J
Publication type:
journal article
Effect of Host Genetics on the Development of Cytomegalovirus Retinitis in Patients with AIDS.
Published in:
Journal of Infectious Diseases, 2010, v. 202, n. 4, p. 606, doi. 10.1086/654814
By:
- Sezgin, Efe;
- Jabs, Douglas A.;
- Hendrickson, Slier L.;
- Natta, Mark Van;
- Zdanov, Alexander;
- Lewis, Richard Alan;
- Smith, Michael W.;
- Troyer, Jennifer L.;
- O'Brien, Stephen J.
Publication type:
Article
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Published in:
Human Genetics, 2011, v. 129, n. 3, p. 319, doi. 10.1007/s00439-010-0928-y
By:
- Wiszniewski, Wojciech;
- Lewis, Richard Alan;
- Stockton, David W.;
- Peng, Jianlan;
- Mardon, Graeme;
- Rui Chen;
- Lupski, James R.
Publication type:
Article
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Published in:
Human Genetics, 2007, v. 121, n. 3/4, p. 433, doi. 10.1007/s00439-006-0314-y
By:
- Wiszniewski, Wojciech;
- Lewis, Richard Alan;
- Lupski, James R.
Publication type:
Article
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
Published in:
Human Genetics, 2001, v. 108, n. 4, p. 346, doi. 10.1007/s004390100493
By:
- Yatsenko, Alexander N.;
- Shroyer, Noah F.;
- Lewis, Richard Alan;
- Lupski, James R.
Publication type:
Article
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
Published in:
Human Genetics, 2001, v. 108, n. 1, p. 51, doi. 10.1007/s004390000440
By:
- Bassi, M. Teresa;
- Bergen, Arthur A. B.;
- Bitoun, Pierre;
- Charles, Stephen J.;
- Clementi, Maurizio;
- Gosselin, Richard;
- Hurst, Jane;
- Lewis, Richard Alan;
- Lorenz, Birgit;
- Meitinger, Thomas;
- Messiaen, Ludwine;
- Ramesar, Rajkumar S.;
- Ballabio, Andrea;
- Schiaffino, M. Vittoria
Publication type:
Article
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Published in:
Human Genetics, 2000, v. 106, n. 2, p. 244, doi. 10.1007/s004390051034
By:
- Shroyer, Noah F.;
- Lewis, Richard Alan;
- Lupski, James R.
Publication type:
Article
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
Published in:
Middle East African Journal of Ophthalmology, 2016, v. 23, n. 1, p. 139, doi. 10.4103/0974-9233.171779
By:
- Safieh, Leen Abu;
- Al‑Otaibi, Humoud M.;
- Lewis, Richard Alan;
- Kozak, Igor
Publication type:
Article
Dissection of epistasis in oligogenic Bardet–Biedl syndrome.
Published in:
Nature, 2006, v. 439, n. 7074, p. 326, doi. 10.1038/nature04370
By:
- Badano, Jose L.;
- Leitch, Carmen C.;
- Ansley, Stephen J.;
- May-Simera, Helen;
- Lawson, Shaneka;
- Lewis, Richard Alan;
- Beales, Philip L.;
- Dietz, Harry C.;
- Fisher, Shannon;
- Nicholas Katsanis
Publication type:
Article
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Published in:
Nature, 2003, v. 425, n. 6958, p. 628, doi. 10.1038/nature02030
By:
- Ansley, Stephen J.;
- Badano, Jose L.;
- Blacque, Oliver E.;
- Hill, Josephine;
- Hoskins, Bethan E.;
- Leitch, Carmen C.;
- Jun Chul Kim, Carmen C.;
- Ross, Alison J.;
- Eichers, Erica R.;
- Teslovich, Tanya M.;
- Mah, Allan K.;
- Johnsen, Robert C.;
- Cavender, John C.;
- Lewis, Richard Alan;
- Leroux, Michel R.;
- Beales, Philip L.;
- Katsanis, Nicholas
Publication type:
Article
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1165, doi. 10.1002/ajmg.a.33968
By:
- Andrabi, Sara;
- Bekheirnia, Mir Reza;
- Robbins-Furman, Patricia;
- Lewis, Richard Alan;
- Prior, Thomas W.;
- Potocki, Lorraine
Publication type:
Article
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 19, p. 2769, doi. 10.1093/hmg/ddi310
By:
- Wiszniewski, Wojciech;
- Zaremba, Charles M.;
- Yatsenko, Alexander N.;
- Jamrich, Milan;
- Wensel, Theodore G.;
- Lewis, Richard Alan;
- Lupski, James R.
Publication type:
Article
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 14, p. 1651, doi. 10.1093/hmg/ddg188
By:
- Badano, Jose L.;
- Kim, Jun Chul;
- Hoskins, Bethan E.;
- Lewis, Richard Alan;
- Ansley, Stephen J.;
- Cutler, David J.;
- Castellan, Claudio;
- Beales, Philip L.;
- Leroux, Michel R.;
- Katsanis, Nicholas
Publication type:
Article
Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer.
Published in:
Genetic Epidemiology, 2001, v. 20, n. 1, p. 75, doi. 10.1002/1098-2272(200101)20:1<75::AID-GEPI7>3.0.CO;2-Z
By:
- Airewele, Gladstone E.;
- Sigurdson, Alice J.;
- Wiley, Karen J.;
- Frieden, Blake E.;
- Caldarera, Lauren W.;
- Riccardi, Vincent M.;
- Lewis, Richard Alan;
- Chintagumpala, Murali M.;
- Ater, Joann L.;
- Plon, Sharon E.;
- Bondy, Melissa L.
Publication type:
Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0412-6
By:
- Eldomery, Mohammad K.;
- Coban-Akdemir, Zeynep;
- Harel, Tamar;
- Rosenfeld, JillA.;
- Gambin, Tomasz;
- Stray-Pedersen, Asbjørg;
- Küry, Sébastien;
- Mercier, Sandra;
- Lessel, Davor;
- Denecke, Jonas;
- Wiszniewski, Wojciech;
- Penney, Samantha;
- Pengfei Liu;
- Weimin Bi;
- Lalani, Seema R.;
- Schaaf, Christian P.;
- Wangler, Michael F.;
- Bacino, Carlos A.;
- Lewis, Richard Alan;
- Potocki, Lorraine
Publication type:
Article
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
Published in:
BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-83
By:
- Craigen, William J.;
- Graham, Brett H.;
- Wong, Lee-Jun;
- Scaglia, Fernando;
- Lewis, Richard Alan;
- Bonnen, Penelope E.
Publication type:
Article

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