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2. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Mirzaa GM; Chong JX; Piton A; Popp B; Foss K; Guo H; Harripaul R; Xia K; Scheck J; Aldinger KA; Sajan SA; Tang S; Bonneau D; Beck A; White J; Mahida S; Harris J; Smith-Hicks C; Hoyer J; Zweier C; Reis A; Thiel CT; Jamra RA; Zeid N; Yang A; Farach LS; Walsh L; Payne K; Rohena L; Velinov M; Ziegler A; Schaefer E; Gatinois V; Geneviève D; Simon MEH; Kohler J; Rotenberg J; Wheeler P; Larson A; Ernst ME; Akman CI; Westman R; Blanchet P; Schillaci LA; Vincent-Delorme C; Gripp KW; Mattioli F; Guyader GL; Gerard B; Mathieu-Dramard M; Morin G; Sasanfar R; Ayub M; Vasli N; Yang S; Person R; Monaghan KG; Nickerson DA; van Binsbergen E; Enns GM; Dries AM; Rowe LJ; Tsai ACH; Svihovec S; Friedman J; Agha Z; Qamar R; Rodan LH; Martinez-Agosto J; Ockeloen CW; Vincent M; Sunderland WJ; Bernstein JA; ; Eichler EE; Vincent JB; ; Bamshad MJ Genet Med; 2020 Mar; 22(3):538-546. PubMed ID: 31723249 [TBL] [Abstract][Full Text] [Related]
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4. 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]
5. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Srivastava S; Love-Nichols JA; Dies KA; Ledbetter DH; Martin CL; Chung WK; Firth HV; Frazier T; Hansen RL; Prock L; Brunner H; Hoang N; Scherer SW; Sahin M; Miller DT; Genet Med; 2019 Nov; 21(11):2413-2421. PubMed ID: 31182824 [TBL] [Abstract][Full Text] [Related]
6. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Heyne HO; Artomov M; Battke F; Bianchini C; Smith DR; Liebmann N; Tadigotla V; Stanley CM; Lal D; Rehm H; Lerche H; Daly MJ; Helbig I; Biskup S; Weber YG; Lemke JR Genet Med; 2019 Nov; 21(11):2496-2503. PubMed ID: 31056551 [TBL] [Abstract][Full Text] [Related]
7. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders. Trinh J; Kandaswamy KK; Werber M; Weiss MER; Oprea G; Kishore S; Lohmann K; Rolfs A J Neurodev Disord; 2019 Jun; 11(1):11. PubMed ID: 31238879 [TBL] [Abstract][Full Text] [Related]
8. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies. Pode-Shakked B; Barel O; Singer A; Regev M; Poran H; Eliyahu A; Finezilber Y; Segev M; Berkenstadt M; Yonath H; Reznik-Wolf H; Gazit Y; Chorin O; Heimer G; Gabis LV; Tzadok M; Nissenkorn A; Bar-Yosef O; Zohar-Dayan E; Ben-Zeev B; Mor N; Kol N; Nayshool O; Shimshoviz N; Bar-Joseph I; Marek-Yagel D; Javasky E; Einy R; Gal M; Grinshpun-Cohen J; Shohat M; Dominissini D; Raas-Rothschild A; Rechavi G; Pras E; Greenbaum L Sci Rep; 2021 Sep; 11(1):19099. PubMed ID: 34580403 [TBL] [Abstract][Full Text] [Related]
10. Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting. Pranav Chand R; Vinit W; Vaidya V; Iyer AS; Shelke M; Aggarwal S; Magar S; Danda S; Moirangthem A; Phadke SR; Goyal M; Ranganath P; Mistri M; Shah P; Shah N; Kotecha UH Eur J Med Genet; 2023 May; 66(5):104730. PubMed ID: 36801247 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities. Kim SH; Kim B; Lee JS; Kim HD; Choi JR; Lee ST; Kang HC Pediatr Neurol; 2019 Oct; 99():47-54. PubMed ID: 30952489 [TBL] [Abstract][Full Text] [Related]
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14. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. Hamanaka K; Miyake N; Mizuguchi T; Miyatake S; Uchiyama Y; Tsuchida N; Sekiguchi F; Mitsuhashi S; Tsurusaki Y; Nakashima M; Saitsu H; Yamada K; Sakamoto M; Fukuda H; Ohori S; Saida K; Itai T; Azuma Y; Koshimizu E; Fujita A; Erturk B; Hiraki Y; Ch'ng GS; Kato M; Okamoto N; Takata A; Matsumoto N Genome Med; 2022 Apr; 14(1):40. PubMed ID: 35468861 [TBL] [Abstract][Full Text] [Related]
15. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders. Riquin K; Isidor B; Mercier S; Nizon M; Colin E; Bonneau D; Pasquier L; Odent S; Le Guillou Horn XM; Le Guyader G; Toutain A; Meyer V; Deleuze JF; Pichon O; Doco-Fenzy M; Bézieau S; Cogné B J Med Genet; 2023 Dec; 61(1):47-56. PubMed ID: 37495270 [TBL] [Abstract][Full Text] [Related]