BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D; Baylor-Hopkins Center for Mendelian Genomics. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet 2021;108:1981-2005. [PMID: 34582790 DOI: 10.1016/j.ajhg.2021.08.009] [Cited by in Crossref: 13] [Cited by in F6Publishing: 15] [Article Influence: 6.5] [Reference Citation Analysis]
Number Citing Articles
1 Wu D, Zhu J, You L, Wang J, Zhang S, Liu Z, Xu Q, Yuan X, Yang L, Wang W, Tong M, Hong Q, Chi X. NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat. J Neurodev Disord 2023;15:6. [PMID: 36737720 DOI: 10.1186/s11689-022-09471-9] [Reference Citation Analysis]
2 Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A 2023. [PMID: 36598158 DOI: 10.1002/ajmg.a.63080] [Reference Citation Analysis]
3 Gezdirici A, Kalaycik Şengül Ö, Doğan M, Özgüven BY, Akbulut E. Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature. Mol Syndromol 2023;13:471-84. [PMID: 36660033 DOI: 10.1159/000523937] [Reference Citation Analysis]
4 Correia-Costa GR, Dos Santos AM, de Leeuw N, Rigatto SZP, Belangero VMS, Steiner CE, Gil-da-Silva-Lopes VL, Vieira TP. Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review. Genes (Basel) 2022;13. [PMID: 36553645 DOI: 10.3390/genes13122377] [Reference Citation Analysis]
5 Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat 2022;43:2033-53. [PMID: 36054313 DOI: 10.1002/humu.24461] [Reference Citation Analysis]
6 Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet 2022;109:2068-79. [PMID: 36283405 DOI: 10.1016/j.ajhg.2022.09.012] [Reference Citation Analysis]
7 Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-avella A, Lupski JR, Pastore A, Peake RW, Dallol A, Alfadhel M, Almontashiri NA. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genetics in Medicine 2022. [DOI: 10.1016/j.gim.2022.10.006] [Reference Citation Analysis]
8 Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell 2022;57:2381-2396.e13. [PMID: 36228617 DOI: 10.1016/j.devcel.2022.09.011] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
9 Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G, Jhangiani SN, Karaca E, Gu S, Coban-akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CM, Pehlivan D, Gibbs RA, Lupski JR. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. Human Genetics and Genomics Advances 2022;3:100132. [DOI: 10.1016/j.xhgg.2022.100132] [Reference Citation Analysis]
10 Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet 2022:S0002-9297(22)00310-X. [PMID: 35948005 DOI: 10.1016/j.ajhg.2022.07.006] [Reference Citation Analysis]
11 Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab 2022;136:101-10. [PMID: 35637064 DOI: 10.1016/j.ymgme.2022.04.003] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Dai P, Honda A, Ewans L, McGaughran J, Burnett L, Law M, Phan TG. Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis. Genet Med 2022:S1098-3600(22)00750-X. [PMID: 35550369 DOI: 10.1016/j.gim.2022.04.021] [Reference Citation Analysis]
13 Lupski JR. Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. Trends Genet 2022:S0168-9525(22)00057-9. [PMID: 35450748 DOI: 10.1016/j.tig.2022.03.001] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
14 Lupski JR. Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A 2021;185:3294-313. [PMID: 34405553 DOI: 10.1002/ajmg.a.62434] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 7.0] [Reference Citation Analysis]
15 Coban-akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CMB, Shaw CA, Posey JE, Valle D, Lupski JR, Baylor Hopkins Center for Mendelian Genomics. De novo mutation and identity-by-descent drive disease haplotypes, biallelic traits and multilocus pathogenic variation.. [DOI: 10.1101/2020.04.27.064824] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]