A homozygous founder mutation in associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.

TitleA homozygous founder mutation in associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Publication TypeJournal Article
AuthorsMarin-Valencia, I, Novarino, G, Johansen, A, Rosti, B, Issa, MY, Musaev, D, Bhat, G, Scott, E, Silhavy, JL, Stanley, V, Rosti, RO, Gleeson, JW, Imam, FB, Zaki, MS, Gleeson, JG
PubMed ID28626029
PubMed Central IDPMC6056005
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
R24 DK080506 / DK / NIDDK NIH HHS / United States
P30 NS047101 / NS / NINDS NIH HHS / United States
R01 NS048453 / NS / NINDS NIH HHS / United States
K08 HL134579 / HL / NHLBI NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
R01 NS052455 / NS / NINDS NIH HHS / United States
P01 HD070494 / HD / NICHD NIH HHS / United States