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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: kaindl am. Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. Brain. 2020. PMID: 31834374 Free PMC article.
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
Li N, Zhou P, Tang H, He L, Fang X, Zhao J, Wang X, Qi Y, Sun C, Lin Y, Qin F, Yang M, Zhang Z, Liao C, Zheng S, Peng X, Xue T, Zhu Q, Li H, Li Y, Liu L, Huang J, Liu L, Peng C, Kaindl AM, Gecz J, Han D, Liu D, Xu K, Hu H. Li N, et al. Among authors: kaindl am. Brain. 2022 Mar 29;145(1):119-141. doi: 10.1093/brain/awab209. Brain. 2022. PMID: 34077496 Free PMC article.
The importance of routine genetic testing in pediatric epilepsy surgery.
Becker LL, Makridis KL, Abad-Perez AT, Thomale UW, Tietze A, Elger CE, Horn D, Kaindl AM. Becker LL, et al. Among authors: kaindl am. Epilepsia Open. 2024 Apr;9(2):800-807. doi: 10.1002/epi4.12916. Epub 2024 Feb 17. Epilepsia Open. 2024. PMID: 38366963 Free PMC article.
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner C, Kaindl AM. Hu H, et al. Among authors: kaindl am. Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3. Ann Clin Transl Neurol. 2014. PMID: 25574476 Free PMC article.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: kaindl am. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Among authors: kaindl am. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067909 Free PMC article.
Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.
Picker-Minh S, Hartenstein S, Proquitté H, Fröhler S, Raile V, Kraemer N, Apeshiotis S, Leipoldt M, Kalache KD, Morris-Rosendahl D, Boltshauser E, Chen W, Kaindl AM. Picker-Minh S, et al. Among authors: kaindl am. J Child Neurol. 2017 Mar;32(3):334-340. doi: 10.1177/0883073816680748. Epub 2016 Dec 20. J Child Neurol. 2017. PMID: 28193110 Review.
176 results