Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16.
Am J Hum Genet. 2021.
PMID: 33596411
Free PMC article.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K; Undiagnosed Diseases Network; Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW.
Bowles B, et al. Among authors: roadhouse c.
Am J Med Genet A. 2021 Aug;185(8):2417-2433. doi: 10.1002/ajmg.a.62347. Epub 2021 May 27.
Am J Med Genet A. 2021.
PMID: 34042254
Free PMC article.
Item in Clipboard
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE.
Lee YR, et al. Among authors: roadhouse c.
Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6.
Nat Commun. 2020.
PMID: 32703943
Free PMC article.
Item in Clipboard
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT.
Mak CCY, et al. Among authors: roadhouse c.
Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.
Brain. 2020.
PMID: 31834374
Free PMC article.
Item in Clipboard
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q.
Tao P, et al. Among authors: roadhouse c.
Nature. 2020 Jan;577(7788):109-114. doi: 10.1038/s41586-019-1830-y. Epub 2019 Dec 11.
Nature. 2020.
PMID: 31827280
Item in Clipboard
Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study.
Roadhouse C, Shuman C, Anstey K, Sappleton K, Chitayat D, Ignagni E.
Roadhouse C, et al.
J Genet Couns. 2018 Jun 16. doi: 10.1007/s10897-018-0265-1. Online ahead of print.
J Genet Couns. 2018.
PMID: 29909595
Item in Clipboard
Educational Aspects of Dairy and Milk Inspection.
Roadhouse CL.
Roadhouse CL.
Am J Public Health Nations Health. 1929 Oct;19(10):1129-32. doi: 10.2105/ajph.19.10.1129.
Am J Public Health Nations Health. 1929.
PMID: 18012858
Free PMC article.
No abstract available.
Item in Clipboard
The Prevalence of Bovine Tuberculosis.
Roadhouse CL.
Roadhouse CL.
Cal State J Med. 1911 Sep;9(9):397-8.
Cal State J Med. 1911.
PMID: 18735369
Free PMC article.
No abstract available.
Item in Clipboard
Cite
Cite