246 related articles for article (PubMed ID: 31230721)
1. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow M; Trinh J; Kandaswamy KK; Braathen GJ; Di Donato N; Rahikkala E; Beblo S; Werber M; Krajka V; Busk ØL; Baumann H; Al-Sannaa NA; Hinrichs F; Affan R; Navot N; Al Balwi MA; Oprea G; Holla ØL; Weiss MER; Jamra RA; Kahlert AK; Kishore S; Tveten K; Vos M; Rolfs A; Lohmann K
Am J Hum Genet; 2019 Jul; 105(1):213-220. PubMed ID: 31230721
[TBL] [Abstract][Full Text] [Related]
2. Inherited and de novo variants extend the etiology of
Hunter JM; Massingham LJ; Manickam K; Bartholomew D; Williamson RK; Schwab JL; Marhabaie M; Siemon A; de Los Reyes E; Reshmi SC; Cottrell CE; Wilson RK; Koboldt DC
Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35091509
[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. Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Hiatt SM; Thompson ML; Prokop JW; Lawlor JMJ; Gray DE; Bebin EM; Rinne T; Kempers M; Pfundt R; van Bon BW; Mignot C; Nava C; Depienne C; Kalsner L; Rauch A; Joset P; Bachmann-Gagescu R; Wentzensen IM; McWalter K; Cooper GM
Am J Hum Genet; 2019 Apr; 104(4):701-708. PubMed ID: 30879638
[TBL] [Abstract][Full Text] [Related]
5. De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Nabais Sá MJ; Olson AN; Yoon G; Nimmo GAM; Gomez CM; Willemsen MA; Millan F; Schneider A; Pfundt R; de Brouwer APM; Dinman JD; de Vries BBA
Hum Mol Genet; 2021 Feb; 29(24):3892-3899. PubMed ID: 33355653
[TBL] [Abstract][Full Text] [Related]
6. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM; Bos M; de Konink C; Distel B; Avagliano Trezza R; Shur NE; Barañano K; Mahida S; Chassevent A; Schreiber A; Erwin AL; Gripp KW; Rehman F; Brulleman S; McCormack R; de Geus G; Kalsner L; Sorlin A; Bruel AL; Koolen DA; Gabriel MK; Rossi M; Fitzpatrick DR; Wilkie AOM; Calpena E; Johnson D; Brooks A; van Slegtenhorst M; Fleischer J; Groepper D; Lindstrom K; Innes AM; Goodwin A; Humberson J; Noyes A; Langley KG; Telegrafi A; Blevins A; Hoffman J; Guillen Sacoto MJ; Juusola J; Monaghan KG; Punj S; Simon M; Pfundt R; Elgersma Y; Kleefstra T
Hum Mutat; 2021 Apr; 42(4):445-459. PubMed ID: 33565190
[TBL] [Abstract][Full Text] [Related]
7. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
[TBL] [Abstract][Full Text] [Related]
8. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A; Kirchner P; Wiesener A; van de Beek I; Waisfisz Q; van Haelst M; Scott DA; Lalani SR; Rosenfeld JA; Azamian MS; Xia F; Dutra-Clarke M; Martinez-Agosto JA; Lee H; ; Noh GJ; Lippa N; Alkelai A; Aggarwal V; Agre KE; Gavrilova R; Mirzaa GM; Straussberg R; Cohen R; Horist B; Krishnamurthy V; McWalter K; Juusola J; Davis-Keppen L; Ohden L; van Slegtenhorst M; de Man SA; Ekici AB; Gregor A; van de Laar I; Zweier C
Am J Hum Genet; 2020 Sep; 107(3):544-554. PubMed ID: 32730804
[TBL] [Abstract][Full Text] [Related]
9. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
10.
Hubert L; Cannata Serio M; Villoing-Gaudé L; Boddaert N; Kaminska A; Rio M; Lyonnet S; Munnich A; Poirier K; Simons M; Besmond C
J Med Genet; 2020 Feb; 57(2):138-144. PubMed ID: 31439720
[TBL] [Abstract][Full Text] [Related]
11. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK
Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333
[TBL] [Abstract][Full Text] [Related]
12. Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN; Wilfert AB; Bakken TE; Bernier RA; Pepper MR; Zhang Z; Torene RI; Retterer K; Eichler EE
Am J Hum Genet; 2019 Dec; 105(6):1274-1285. PubMed ID: 31785789
[TBL] [Abstract][Full Text] [Related]
13. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Nixon KCJ; Rousseau J; Stone MH; Sarikahya M; Ehresmann S; Mizuno S; Matsumoto N; Miyake N; ; Baralle D; McKee S; Izumi K; Ritter AL; Heide S; Héron D; Depienne C; Titheradge H; Kramer JM; Campeau PM
Am J Hum Genet; 2019 Apr; 104(4):596-610. PubMed ID: 30879640
[TBL] [Abstract][Full Text] [Related]
14. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S; Gupta A; Zech M; Sigafoos AN; Clark KJ; Dincer Y; Wagner M; Humberson JB; Green S; van Gassen K; Brandt T; Schnur RE; Millan F; Si Y; Mall V; Winkelmann J; Gavrilova RH; Klee EW; Engleman K; Safina NP; Slaugh R; Bryant EM; Tan WH; Granadillo J; Misra SN; Schaefer GB; Towner S; Brilstra EH; Koeleman BPC
Genet Med; 2020 Aug; 22(8):1413-1417. PubMed ID: 32366965
[TBL] [Abstract][Full Text] [Related]
15. De novo variants in neurodevelopmental disorders with epilepsy.
Heyne HO; Singh T; Stamberger H; Abou Jamra R; Caglayan H; Craiu D; De Jonghe P; Guerrini R; Helbig KL; Koeleman BPC; Kosmicki JA; Linnankivi T; May P; Muhle H; Møller RS; Neubauer BA; Palotie A; Pendziwiat M; Striano P; Tang S; Wu S; ; Poduri A; Weber YG; Weckhuysen S; Sisodiya SM; Daly MJ; Helbig I; Lal D; Lemke JR
Nat Genet; 2018 Jul; 50(7):1048-1053. PubMed ID: 29942082
[TBL] [Abstract][Full Text] [Related]
16. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A; Sadleir LG; Asadollahi R; Azzarello-Burri S; Battaglia A; Ousager LB; Boonsawat P; Bruel AL; Buchert R; Calpena E; Cogné B; Dallapiccola B; Distelmaier F; Elmslie F; Faivre L; Haack TB; Harrison V; Henderson A; Hunt D; Isidor B; Joset P; Kumada S; Lachmeijer AMA; Lees M; Lynch SA; Martinez F; Matsumoto N; McDougall C; Mefford HC; Miyake N; Myers CT; Moutton S; Nesbitt A; Novelli A; Orellana C; Rauch A; Rosello M; Saida K; Santani AB; Sarkar A; Scheffer IE; Shinawi M; Steindl K; Symonds JD; Zackai EH; ; ; Reis A; Sticht H; Zweier C
Am J Hum Genet; 2018 Aug; 103(2):305-316. PubMed ID: 30057029
[TBL] [Abstract][Full Text] [Related]
17. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F; Cho MT; Retterer K; Monaghan KG; Bai R; Vitazka P; Everman DB; Smith B; Angle B; Roberts V; Immken L; Nagakura H; DiFazio M; Sherr E; Haverfield E; Friedman B; Telegrafi A; Juusola J; Chung WK; Bale S
Am J Med Genet A; 2016 Jul; 170(7):1791-8. PubMed ID: 27133397
[TBL] [Abstract][Full Text] [Related]
18. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C
Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556
[TBL] [Abstract][Full Text] [Related]
19. Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Cavalli A; Caraffi SG; Rizzi S; Trimarchi G; Napoli M; Frattini D; Spagnoli C; Garavelli L; Fusco C
BMC Med Genomics; 2024 Mar; 17(1):68. PubMed ID: 38443934
[TBL] [Abstract][Full Text] [Related]
20. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM; Hayeck TJ; Cheng Z; Chatterjee S; Mannion BJ; Byrska-Bishop M; Willems M; Pinson L; Redon S; Benech C; Uguen K; Audebert-Bellanger S; Le Marechal C; Férec C; Efthymiou S; Rahman F; Maqbool S; Maroofian R; Houlden H; Musunuri R; Narzisi G; Abhyankar A; Hunter RD; Akiyama J; Fries LE; Ng JK; Mehinovic E; Stong N; Allen AS; Dickel DE; Bernier RA; Gorkin DU; Pennacchio LA; Zody MC; Turner TN
Hum Genomics; 2021 Jul; 15(1):44. PubMed ID: 34256850
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
