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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD Jr, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Jin SC, et al. Among authors: hoffman ej. Nat Med. 2020 Nov;26(11):1754-1765. doi: 10.1038/s41591-020-1090-2. Epub 2020 Oct 19. Nat Med. 2020. PMID: 33077954 Free PMC article.
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Willsey AJ, et al. Among authors: hoffman ej. Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020. Cell. 2013. PMID: 24267886 Free PMC article.
PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets.
DeSpenza T Jr, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. DeSpenza T Jr, et al. Among authors: hoffman ej. Trends Neurosci. 2021 Dec;44(12):961-976. doi: 10.1016/j.tins.2021.08.007. Epub 2021 Oct 5. Trends Neurosci. 2021. PMID: 34625286 Free PMC article. Review.
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.
Fernandez TV, Williams ZP, Kline T, Rajendran S, Augustine F, Wright N, Sullivan CAW, Olfson E, Abdallah SB, Liu W, Hoffman EJ, Gupta AR, Singer HS. Fernandez TV, et al. Among authors: hoffman ej. PLoS One. 2023 Oct 3;18(10):e0291978. doi: 10.1371/journal.pone.0291978. eCollection 2023. PLoS One. 2023. PMID: 37788244 Free PMC article.
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. Cappi C, et al. Among authors: hoffman ej. Biol Psychiatry. 2020 Jun 15;87(12):1035-1044. doi: 10.1016/j.biopsych.2019.09.029. Epub 2019 Oct 16. Biol Psychiatry. 2020. PMID: 31771860 Free PMC article.
Progress in cytogenetics: implications for child psychopathology.
Hoffman EJ, State MW. Hoffman EJ, et al. J Am Acad Child Adolesc Psychiatry. 2010 Aug;49(8):736-51; quiz 856-7. doi: 10.1016/j.jaac.2010.03.016. Epub 2010 May 26. J Am Acad Child Adolesc Psychiatry. 2010. PMID: 20643309 Review.
122 results