These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
173 related articles for article (PubMed ID: 28867141)
1. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. Lelieveld SH; Wiel L; Venselaar H; Pfundt R; Vriend G; Veltman JA; Brunner HG; Vissers LELM; Gilissen C Am J Hum Genet; 2017 Sep; 101(3):478-484. PubMed ID: 28867141 [TBL] [Abstract][Full Text] [Related]
2. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Scott TM; Guo H; Eichler EE; Rosenfeld JA; Pang K; Liu Z; Lalani S; Bi W; Yang Y; Bacino CA; Streff H; Lewis AM; Koenig MK; Thiffault I; Bellomo A; Everman DB; Jones JR; Stevenson RE; Bernier R; Gilissen C; Pfundt R; Hiatt SM; Cooper GM; Holder JL; Scott DA Hum Mutat; 2020 May; 41(5):921-925. PubMed ID: 31999386 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779 [TBL] [Abstract][Full Text] [Related]
9. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Kosmicki JA; Samocha KE; Howrigan DP; Sanders SJ; Slowikowski K; Lek M; Karczewski KJ; Cutler DJ; Devlin B; Roeder K; Buxbaum JD; Neale BM; MacArthur DG; Wall DP; Robinson EB; Daly MJ Nat Genet; 2017 Apr; 49(4):504-510. PubMed ID: 28191890 [TBL] [Abstract][Full Text] [Related]
10. Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function. Davies FCJ; Hope JE; McLachlan F; Marshall GF; Kaminioti-Dumont L; Qarkaxhija V; Nunez F; Dando O; Smith C; Wood E; MacDonald J; Hardt O; Abbott CM Hum Mol Genet; 2020 Jun; 29(10):1592-1606. PubMed ID: 32160274 [TBL] [Abstract][Full Text] [Related]
11. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. Reuter MS; Tawamie H; Buchert R; Hosny Gebril O; Froukh T; Thiel C; Uebe S; Ekici AB; Krumbiegel M; Zweier C; Hoyer J; Eberlein K; Bauer J; Scheller U; Strom TM; Hoffjan S; Abdelraouf ER; Meguid NA; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Abdallah E; Sticht H; Wieczorek D; Reis A; Abou Jamra R JAMA Psychiatry; 2017 Mar; 74(3):293-299. PubMed ID: 28097321 [TBL] [Abstract][Full Text] [Related]
12. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Myers CT; Stong N; Mountier EI; Helbig KL; Freytag S; Sullivan JE; Ben Zeev B; Nissenkorn A; Tzadok M; Heimer G; Shinde DN; Rezazadeh A; Regan BM; Oliver KL; Ernst ME; Lippa NC; Mulhern MS; Ren Z; Poduri A; Andrade DM; Bird LM; Bahlo M; Berkovic SF; Lowenstein DH; Scheffer IE; Sadleir LG; Goldstein DB; Mefford HC; Heinzen EL Am J Hum Genet; 2017 Oct; 101(4):516-524. PubMed ID: 28942967 [TBL] [Abstract][Full Text] [Related]
13. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539 [TBL] [Abstract][Full Text] [Related]
14. Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants. Silva DB; Trinidad M; Ljungdahl A; Revalde JL; Berguig GY; Wallace W; Patrick CS; Bomba L; Arkin M; Dong S; Estrada K; Hutchinson K; LeBowitz JH; Schlessinger A; Johannesen KM; Møller RS; Giacomini KM; Froelich S; Sanders SJ; Wuster A Am J Hum Genet; 2024 Jun; 111(6):1222-1238. PubMed ID: 38781976 [TBL] [Abstract][Full Text] [Related]
15. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Okur V; Cho MT; Henderson L; Retterer K; Schneider M; Sattler S; Niyazov D; Azage M; Smith S; Picker J; Lincoln S; Tarnopolsky M; Brady L; Bjornsson HT; Applegate C; Dameron A; Willaert R; Baskin B; Juusola J; Chung WK Hum Genet; 2016 Jul; 135(7):699-705. PubMed ID: 27048600 [TBL] [Abstract][Full Text] [Related]
16. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Paine I; Posey JE; Grochowski CM; Jhangiani SN; Rosenheck S; Kleyner R; Marmorale T; Yoon M; Wang K; Robison R; Cappuccio G; Pinelli M; Magli A; Coban Akdemir Z; Hui J; Yeung WL; Wong BKY; Ortega L; Bekheirnia MR; Bierhals T; Hempel M; Johannsen J; Santer R; Aktas D; Alikasifoglu M; Bozdogan S; Aydin H; Karaca E; Bayram Y; Ityel H; Dorschner M; White JJ; Wilichowski E; Wortmann SB; Casella EB; Kitajima JP; Kok F; Monteiro F; Muzny DM; Bamshad M; Gibbs RA; Sutton VR; ; Van Esch H; Brunetti-Pierri N; Hildebrandt F; Brautbar A; Van den Veyver IB; Glass I; Lessel D; Lyon GJ; Lupski JR Am J Hum Genet; 2019 Aug; 105(2):302-316. PubMed ID: 31256877 [TBL] [Abstract][Full Text] [Related]
17. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881 [TBL] [Abstract][Full Text] [Related]
18. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859 [TBL] [Abstract][Full Text] [Related]
19. De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders. Wiel L; Hampstead JE; Venselaar H; Vissers LELM; Brunner HG; Pfundt R; Vriend G; Veltman JA; Gilissen C Am J Hum Genet; 2023 Jan; 110(1):92-104. PubMed ID: 36563679 [TBL] [Abstract][Full Text] [Related]