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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 2
2012 2
2013 4
2014 4
2015 2
2016 1
2018 1
2019 3
2020 2
2021 2
2022 7
2023 14
2024 1

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Page 1
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: moreno de luca a. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
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: moreno de luca a. 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.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: moreno de luca a. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL. Moreno-De-Luca A, et al. JAMA. 2021 Feb 2;325(5):467-475. doi: 10.1001/jama.2020.26148. JAMA. 2021. PMID: 33528536 Free PMC article.
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T Jr, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: moreno de luca a. Nat Neurosci. 2022 Apr;25(4):458-473. doi: 10.1038/s41593-022-01043-3. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379995 Free PMC article.
Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gülaçar IM, Person R, Sadykova D, Maidyrov Y, Seifi T, Zadagali A, Bernard G, Allis K, Elloumi HZ, Lindy A, Taghiabadi E, Verma S, Logan R, Kirmse B, Bai R, Khalaf SM, Abdel-Hamid MS, Sedaghat A, Shariati G, Issa M, Zeighami J, Elbendary HM, Brown G, Taylor RW, Galehdari H, Gleeson JJ, Carroll CJ, Cowan JA, Moreno-De-Luca A, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: moreno de luca a. Ann Clin Transl Neurol. 2022 Dec;9(12):2025-2035. doi: 10.1002/acn3.51679. Epub 2022 Oct 18. Ann Clin Transl Neurol. 2022. PMID: 36256512 Free PMC article.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Kundishora AJ, Allington G, McGee S, Mekbib KY, Gainullin V, Timberlake AT, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy PQ, Elsamadicy AA, Dong W, Zhao S, Wang YC, Qureshi HM, DiLuna ML, Mane S, Tikhonova IR, Fu PY, Castaldi C, López-Giráldez F, Knight JR, Furey CG, Carter BS, Haider S, Moreno-De-Luca A, Alper SL, Gunel M, Millan F, Lifton RP, Torene RI, Jin SC, Kahle KT. Kundishora AJ, et al. Among authors: moreno de luca a. Nat Med. 2023 Mar;29(3):667-678. doi: 10.1038/s41591-023-02238-2. Epub 2023 Mar 6. Nat Med. 2023. PMID: 36879130
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Hao LT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Moyer QJ, Dennis E, Kiziltug E, Kundishora AJ, DeSpenza T Jr, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. Zhao S, et al. Among authors: moreno de luca a. Nat Commun. 2023 Nov 17;14(1):7452. doi: 10.1038/s41467-023-43062-z. Nat Commun. 2023. PMID: 37978175 Free PMC article.
Human genetics and molecular genomics of Chiari malformation type 1.
Mekbib KY, Muñoz W, Allington G, McGee S, Mehta NH, Shofi JP, Fortes C, Le HT, Nelson-Williams C, Nanda P, Dennis E, Kundishora AJ, Khanna A, Smith H, Ocken J, Greenberg ABW, Wu R, Moreno-De-Luca A, DeSpenza T Jr, Zhao S, Marlier A, Jin SC, Alper SL, Butler WE, Kahle KT. Mekbib KY, et al. Among authors: moreno de luca a. Trends Mol Med. 2023 Dec;29(12):1059-1075. doi: 10.1016/j.molmed.2023.08.013. Epub 2023 Oct 4. Trends Mol Med. 2023. PMID: 37802664 Review.
40 results