Lyons LA - Search Results

1

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium; Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Cogné B, et al. Among authors: lyons la. Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386558 Free PMC article.

2

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL. Zoghbi HY, et al. Among authors: lyons la. Ann Neurol. 1988 Jun;23(6):580-4. doi: 10.1002/ana.410230609. Ann Neurol. 1988. PMID: 3165612

3

A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.

Aberdein D, Munday JS, Gandolfi B, Dittmer KE, Malik R, Garrick DJ, Lyons LA; 99 Lives Consortium. Aberdein D, et al. Among authors: lyons la. Mamm Genome. 2017 Feb;28(1-2):47-55. doi: 10.1007/s00335-016-9668-1. Epub 2016 Oct 21. Mamm Genome. 2017. PMID: 27770190 Free article.

4

Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).

Oh A, Pearce JW, Gandolfi B, Creighton EK, Suedmeyer WK, Selig M, Bosiack AP, Castaner LJ, Whiting RE, Belknap EB, Lyons LA; 99 Lives Consortium. Oh A, et al. Among authors: lyons la. Sci Rep. 2017 Mar 21;7:43918. doi: 10.1038/srep43918. Sci Rep. 2017. PMID: 28322220 Free PMC article.

5

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

Occelli LM, Daruwalla A, De Silva SR, Winkler PA, Sun K, Pasmanter N, Minella A, Querubin J, Lyons LA; 99 Lives Consortium; Robson AG, Heon E, Michaelides M, Webster AR, Palczewski K, Vincent A, Mahroo OA, Kiser PD, Petersen-Jones SM. Occelli LM, et al. Among authors: lyons la. Hum Mol Genet. 2022 Apr 22;31(8):1263-1277. doi: 10.1093/hmg/ddab316. Hum Mol Genet. 2022. PMID: 34726233 Free PMC article.

6

A chromosome-scale fishing cat reference genome for the evaluation of potential germline risk variants.

Carroll RA, Rice ES, Murphy WJ, Lyons LA, Thibaud-Nissen F, Coghill LM, Swanson WF, Terio KA, Boyd T, Warren WC. Carroll RA, et al. Among authors: lyons la. Sci Rep. 2024 Apr 5;14(1):8073. doi: 10.1038/s41598-024-56003-7. Sci Rep. 2024. PMID: 38580653 Free PMC article.

7

Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants.

Kamboh MI, Lyons LA, Ferrell RE. Kamboh MI, et al. Among authors: lyons la. Am J Hum Genet. 1989 Jan;44(1):148-53. Am J Hum Genet. 1989. PMID: 2535773 Free PMC article.

8

Genetic studies of low-abundance human plasma proteins. IX. A new allele at the complement subcomponent C1R structural locus.

Kamboh MI, Lyons L, Ferrell RE. Kamboh MI, et al. Hum Genet. 1988 Dec;81(1):93-4. doi: 10.1007/BF00283738. Hum Genet. 1988. PMID: 3198132

9

A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium.

Lyons LA, Lewis RA, Strong LC, Zuckerbrod S, Ferrell RE. Lyons LA, et al. Am J Hum Genet. 1988 Feb;42(2):290-6. Am J Hum Genet. 1988. PMID: 3422541 Free PMC article.

10

Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.

Martha A, Ferrell RE, Mintz-Hittner H, Lyons LA, Saunders GF. Martha A, et al. Among authors: lyons la. Am J Hum Genet. 1994 May;54(5):801-11. Am J Hum Genet. 1994. PMID: 7909985 Free PMC article.

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