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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA. Appelhof B, et al. Among authors: heinze a. Eur J Hum Genet. 2021 Mar;29(3):411-421. doi: 10.1038/s41431-020-00749-x. Epub 2020 Nov 9. Eur J Hum Genet. 2021. PMID: 33168985 Free PMC article.
KDM5A mutations identified in autism spectrum disorder using forward genetics.
El Hayek L, Tuncay IO, Nijem N, Russell J, Ludwig S, Kaur K, Li X, Anderton P, Tang M, Gerard A, Heinze A, Zacher P, Alsaif HS, Rad A, Hassanpour K, Abbaszadegan MR, Washington C, DuPont BR, Louie RJ; CAUSES Study; Couse M, Faden M, Rogers RC, Abou Jamra R, Elias ER, Maroofian R, Houlden H, Lehman A, Beutler B, Chahrour MH. El Hayek L, et al. Among authors: heinze a. Elife. 2020 Dec 22;9:e56883. doi: 10.7554/eLife.56883. Elife. 2020. PMID: 33350388 Free PMC article.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR. Zacher P, et al. Among authors: heinze a. Genet Med. 2021 Aug;23(8):1492-1497. doi: 10.1038/s41436-021-01153-6. Epub 2021 Apr 28. Genet Med. 2021. PMID: 33911214 Free PMC article.
Patterns of coding variation in the complete exomes of three Neandertals.
Castellano S, Parra G, Sánchez-Quinto FA, Racimo F, Kuhlwilm M, Kircher M, Sawyer S, Fu Q, Heinze A, Nickel B, Dabney J, Siebauer M, White L, Burbano HA, Renaud G, Stenzel U, Lalueza-Fox C, de la Rasilla M, Rosas A, Rudan P, Brajković D, Kucan Ž, Gušic I, Shunkov MV, Derevianko AP, Viola B, Meyer M, Kelso J, Andrés AM, Pääbo S. Castellano S, et al. Among authors: heinze a. Proc Natl Acad Sci U S A. 2014 May 6;111(18):6666-71. doi: 10.1073/pnas.1405138111. Epub 2014 Apr 21. Proc Natl Acad Sci U S A. 2014. PMID: 24753607 Free PMC article.
The complete genome sequence of a Neanderthal from the Altai Mountains.
Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, Kuhlwilm M, Lachmann M, Meyer M, Ongyerth M, Siebauer M, Theunert C, Tandon A, Moorjani P, Pickrell J, Mullikin JC, Vohr SH, Green RE, Hellmann I, Johnson PL, Blanche H, Cann H, Kitzman JO, Shendure J, Eichler EE, Lein ES, Bakken TE, Golovanova LV, Doronichev VB, Shunkov MV, Derevianko AP, Viola B, Slatkin M, Reich D, Kelso J, Pääbo S. Prüfer K, et al. Among authors: heinze a. Nature. 2014 Jan 2;505(7481):43-9. doi: 10.1038/nature12886. Epub 2013 Dec 18. Nature. 2014. PMID: 24352235 Free PMC article.
Reconstructing Prehistoric African Population Structure.
Skoglund P, Thompson JC, Prendergast ME, Mittnik A, Sirak K, Hajdinjak M, Salie T, Rohland N, Mallick S, Peltzer A, Heinze A, Olalde I, Ferry M, Harney E, Michel M, Stewardson K, Cerezo-Román JI, Chiumia C, Crowther A, Gomani-Chindebvu E, Gidna AO, Grillo KM, Helenius IT, Hellenthal G, Helm R, Horton M, López S, Mabulla AZP, Parkington J, Shipton C, Thomas MG, Tibesasa R, Welling M, Hayes VM, Kennett DJ, Ramesar R, Meyer M, Pääbo S, Patterson N, Morris AG, Boivin N, Pinhasi R, Krause J, Reich D. Skoglund P, et al. Among authors: heinze a. Cell. 2017 Sep 21;171(1):59-71.e21. doi: 10.1016/j.cell.2017.08.049. Cell. 2017. PMID: 28938123 Free PMC article.
181 results