329 related articles for article (PubMed ID: 34582790)
1. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
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
Am J Hum Genet; 2021 Oct; 108(10):1981-2005. PubMed ID: 34582790
[TBL] [Abstract][Full Text] [Related]
2. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D; Bayram Y; Gunes N; Coban Akdemir Z; Shukla A; Bierhals T; Tabakci B; Sahin Y; Gezdirici A; Fatih JM; Gulec EY; Yesil G; Punetha J; Ocak Z; Grochowski CM; Karaca E; Albayrak HM; Radhakrishnan P; Erdem HB; Sahin I; Yildirim T; Bayhan IA; Bursali A; Elmas M; Yuksel Z; Ozdemir O; Silan F; Yildiz O; Yesilbas O; Isikay S; Balta B; Gu S; Jhangiani SN; Doddapaneni H; Hu J; Muzny DM; ; Boerwinkle E; Gibbs RA; Tsiakas K; Hempel M; Girisha KM; Gul D; Posey JE; Elcioglu NH; Tuysuz B; Lupski JR
Am J Hum Genet; 2019 Jul; 105(1):132-150. PubMed ID: 31230720
[TBL] [Abstract][Full Text] [Related]
3. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T; Jech R; Brugger M; Kovacs R; Alhaddad B; Leszinski G; Riedhammer KM; Westphal DS; Mahle I; Mayerhanser K; Skorvanek M; Weber S; Graf E; Berutti R; Necpál J; Havránková P; Pavelekova P; Hempel M; Kotzaeridou U; Hoffmann GF; Leiz S; Makowski C; Roser T; Schroeder SA; Steinfeld R; Strobl-Wildemann G; Hoefele J; Borggraefe I; Distelmaier F; Strom TM; Winkelmann J; Meitinger T; Zech M; Wagner M
Clin Genet; 2021 Jul; 100(1):14-28. PubMed ID: 33619735
[TBL] [Abstract][Full Text] [Related]
4. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
[TBL] [Abstract][Full Text] [Related]
5. Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Afridi TUK; Fatima A; Satti HS; Akram Z; Yousafzai IK; Naeem WB; Fatima N; Ali A; Iqbal Z; Khan A; Shahzad M; Liu C; Toft M; Zhang F; Tariq M; Davis EE; Khan TN
Mol Genet Genomics; 2024 May; 299(1):55. PubMed ID: 38771357
[TBL] [Abstract][Full Text] [Related]
6. Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C; Zhou W; Zhang L; Fu L; Shi W; Qing Y; Lu F; Tang J; Gao X; Zhang A; Jia Z; Zhang Y; Zhao X; Zheng B
BMC Genomics; 2023 Jul; 24(1):422. PubMed ID: 37501076
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E; Posey JE; Coban Akdemir Z; Pehlivan D; Harel T; Jhangiani SN; Bayram Y; Song X; Bahrambeigi V; Yuregir OO; Bozdogan S; Yesil G; Isikay S; Muzny D; Gibbs RA; Lupski JR
Genet Med; 2018 Dec; 20(12):1528-1537. PubMed ID: 29790871
[TBL] [Abstract][Full Text] [Related]
8. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
[TBL] [Abstract][Full Text] [Related]
9. Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T; Nafie O; Al Hait SAS; Laugwitz L; Sommerfeld J; Sturm M; Baraghiti A; Issa T; Al-Nazer A; Koch PA; Hanselmann J; Kootz B; Bauer P; Al-Ameri W; Abou Jamra R; Alfrook AJ; Hamadallah M; Sofan L; Riess A; Haack TB; Riess O; Buchert R
Clin Genet; 2020 Apr; 97(4):621-627. PubMed ID: 32056211
[TBL] [Abstract][Full Text] [Related]
10. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Herman I; Jolly A; Du H; Dawood M; Abdel-Salam GMH; Marafi D; Mitani T; Calame DG; Coban-Akdemir Z; Fatih JM; Hegazy I; Jhangiani SN; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
Am J Med Genet A; 2022 Mar; 188(3):735-750. PubMed ID: 34816580
[TBL] [Abstract][Full Text] [Related]
11. Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Schrauwen I; Rajendran Y; Acharya A; Öhman S; Arvio M; Paetau R; Siren A; Avela K; Granvik J; Leal SM; Määttä T; Kokkonen H; Järvelä I
Sci Rep; 2024 May; 14(1):11239. PubMed ID: 38755281
[TBL] [Abstract][Full Text] [Related]
12. Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Susgun S; Kesim Y; Khalilov D; Sirin NG; Gezegen H; Salman B; Yucesan E; Gokcay G; Korbeyli HK; Balci MC; Iseri SAU; Baykan B; Bebek N
Neurol Sci; 2023 Jul; 44(7):2527-2540. PubMed ID: 36849695
[TBL] [Abstract][Full Text] [Related]
13. Pathogenic
Song JM; Kang M; Park DH; Park S; Lee S; Suh YH
J Neurosci; 2021 Mar; 41(11):2344-2359. PubMed ID: 33500274
[TBL] [Abstract][Full Text] [Related]
14. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
Ilyas M; Efthymiou S; Salpietro V; Noureen N; Zafar F; Rauf S; Mir A; Houlden H
BMC Med Genet; 2020 Mar; 21(1):59. PubMed ID: 32209057
[TBL] [Abstract][Full Text] [Related]
15. Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Shin S; Lee J; Kim YG; Ha C; Park JH; Kim JW; Lee J; Jang JH
Pediatr Neurol; 2023 Dec; 149():44-52. PubMed ID: 37776660
[TBL] [Abstract][Full Text] [Related]
16. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Lee Y; Park S; Lee JS; Kim SY; Cho J; Yoo Y; Lee S; Yoo T; Lee M; Seo J; Lee J; Kneissl J; Lee J; Jeon H; Jeon EY; Hong SE; Kim E; Kim H; Kim WJ; Kim JS; Ko JM; Cho A; Lim BC; Kim WS; Choi M; Chae JH
Sci Rep; 2020 Jan; 10(1):1413. PubMed ID: 31996704
[TBL] [Abstract][Full Text] [Related]
17. Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Iqbal S; Brünger T; Pérez-Palma E; Macnee M; Brunklaus A; Daly MJ; Campbell AJ; Hoksza D; May P; Lal D
Brain; 2023 Feb; 146(2):519-533. PubMed ID: 36256779
[TBL] [Abstract][Full Text] [Related]
18. Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
[TBL] [Abstract][Full Text] [Related]
19. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad A; Sdano MA; Vanzo RJ; Mowery-Rushton PA; Serrano MA; Hensel CH; Wassman ER
BMC Med Genet; 2018 Mar; 19(1):46. PubMed ID: 29554876
[TBL] [Abstract][Full Text] [Related]
20. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE; Saunders CJ; Willig LK; Farrow EG; Smith LD; Petrikin JE; LePichon JB; Miller NA; Thiffault I; Dinwiddie DL; Twist G; Noll A; Heese BA; Zellmer L; Atherton AM; Abdelmoity AT; Safina N; Nyp SS; Zuccarelli B; Larson IA; Modrcin A; Herd S; Creed M; Ye Z; Yuan X; Brodsky RA; Kingsmore SF
Sci Transl Med; 2014 Dec; 6(265):265ra168. PubMed ID: 25473036
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
