160 related articles for article (PubMed ID: 26781712)
41. Schizophrenia: From genetics to physiology at last.
Dhindsa RS; Goldstein DB
Nature; 2016 Feb; 530(7589):162-3. PubMed ID: 26814972
[No Abstract] [Full Text] [Related]
42. A unified analysis of evolutionary and population constraint in protein domains highlights structural features and pathogenic sites.
MacGowan SA; Madeira F; Britto-Borges T; Barton GJ
Commun Biol; 2024 Apr; 7(1):447. PubMed ID: 38605212
[TBL] [Abstract][Full Text] [Related]
43. A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein.
Cirulli ET; Schiabor Barrett KM; Bolze A; Judge DP; Pawloski PA; Grzymski JJ; Lee W; Washington NL
HGG Adv; 2024 Mar; 5(3):100284. PubMed ID: 38509709
[TBL] [Abstract][Full Text] [Related]
44. The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection.
Hayeck TJ; Li Y; Mosbruger TL; Bradfield JP; Gleason AG; Damianos G; Shaw GT; Duke JL; Conlin LK; Turner TN; Fernández-Viña MA; Sarmady M; Monos DS
Genome Biol Evol; 2024 Feb; 16(2):. PubMed ID: 38302106
[TBL] [Abstract][Full Text] [Related]
45. ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality.
Sindram E; Caballero-Oteyza A; Kogata N; Chor Mei Huang S; Alizadeh Z; Gámez-Díaz L; Fazlollhi MR; Peng X; Grimbacher B; Way M; Proietti M
Dis Model Mech; 2023 Jul; 16(7):. PubMed ID: 37382373
[TBL] [Abstract][Full Text] [Related]
46. Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy.
Lin ZJ; Huang BX; Su LF; Zhu SY; He JW; Chen GZ; Lin PX
Neurogenetics; 2023 Jul; 24(3):161-169. PubMed ID: 37022522
[TBL] [Abstract][Full Text] [Related]
47. The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Dobrigna M; Poëa-Guyon S; Rousseau V; Vincent A; Toutain A; Barnier JV
Front Neurosci; 2023; 17():1123784. PubMed ID: 36937657
[TBL] [Abstract][Full Text] [Related]
48. Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M; Garibal M; Desvignes JP; Guien C; Grattepanche C; Collod-Béroud G; Ménoret E; Salgado D; Béroud C
Front Bioinform; 2023; 3():1127341. PubMed ID: 36896423
[No Abstract] [Full Text] [Related]
49. Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J; Byers PH; Wilkie AOM
Nat Rev Genet; 2023 Jul; 24(7):442-463. PubMed ID: 36806206
[TBL] [Abstract][Full Text] [Related]
50. The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
Holborn MA; Ford G; Turner S; Mellet J; van Rensburg J; Joubert F; Pepper MS
Genomics; 2022 Nov; 114(6):110508. PubMed ID: 36270382
[TBL] [Abstract][Full Text] [Related]
51. The 3D mutational constraint on amino acid sites in the human proteome.
Li B; Roden DM; Capra JA
Nat Commun; 2022 Jun; 13(1):3273. PubMed ID: 35672414
[TBL] [Abstract][Full Text] [Related]
52. Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
Bertacchi M; Tocco C; Schaaf CP; Studer M
Cells; 2022 Apr; 11(8):. PubMed ID: 35455940
[TBL] [Abstract][Full Text] [Related]
53. Regulation of neuronal excitation-transcription coupling by Kv2.1-induced clustering of somatic L-type Ca
Vierra NC; O'Dwyer SC; Matsumoto C; Santana LF; Trimmer JS
Proc Natl Acad Sci U S A; 2021 Nov; 118(46):. PubMed ID: 34750263
[TBL] [Abstract][Full Text] [Related]
54. Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
Kyrousi C; O'Neill AC; Brazovskaja A; He Z; Kielkowski P; Coquand L; Di Giaimo R; D' Andrea P; Belka A; Forero Echeverry A; Mei D; Lenge M; Cruceanu C; Buchsbaum IY; Khattak S; Fabien G; Binder E; Elmslie F; Guerrini R; Baffet AD; Sieber SA; Treutlein B; Robertson SP; Cappello S
Nat Commun; 2021 Nov; 12(1):6298. PubMed ID: 34728600
[TBL] [Abstract][Full Text] [Related]
55. Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J; Lei WT; Zhang P; Rapaport F; Seeleuthner Y; Lyu B; Asano T; Rosain J; Hammadi B; Zhang Y; Pelham SJ; Spaan AN; Migaud M; Hum D; Bigio B; Chrabieh M; Béziat V; Bustamante J; Zhang SY; Jouanguy E; Boisson-Dupuis S; El Baghdadi J; Aimanianda V; Thoma K; Fliegauf M; Grimbacher B; Korganow AS; Saunders C; Rao VK; Uzel G; Freeman AF; Holland SM; Su HC; Cunningham-Rundles C; Fieschi C; Abel L; Puel A; Cobat A; Casanova JL; Zhang Q; Boisson B
J Exp Med; 2021 Nov; 218(11):. PubMed ID: 34473196
[TBL] [Abstract][Full Text] [Related]
56. Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S; Vázquez-Mosquera ME; González-Vioque E; Álvarez JV; Chans R; Laranjeira F; Martins E; Ferreira AC; Avila-Alvarez A; Couce ML
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440436
[TBL] [Abstract][Full Text] [Related]
57. A domain damage index to prioritizing the pathogenicity of missense variants.
Chen HC; Wang J; Liu Q; Shyr Y
Hum Mutat; 2021 Nov; 42(11):1503-1517. PubMed ID: 34350656
[TBL] [Abstract][Full Text] [Related]
58. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B; Ferrer A; Nishimura CJ; Pinto E Vairo F; Rey T; Leheup B; Sullivan J; Schoch K; Stong N; Agolini E; Cocciadiferro D; Williams A; Cummings A; Loddo S; Genovese S; Roadhouse C; McWalter K; ; Wentzensen IM; Li C; Babovic-Vuksanovic D; Lanpher BC; Dentici ML; Ankala A; Hamm JA; Dallapiccola B; Radio FC; Shashi V; Gérard B; Bloch-Zupan A; Smith RJ; Klee EW
Am J Med Genet A; 2021 Aug; 185(8):2417-2433. PubMed ID: 34042254
[TBL] [Abstract][Full Text] [Related]
59. Evidence for a synergistic effect of post-translational modifications and genomic composition of eEF-1α on the adaptation of
Wang YP; Wu EJ; Lurwanu Y; Ding JP; He DC; Waheed A; Nkurikiyimfura O; Liu ST; Li WY; Wang ZH; Yang L; Zhan J
Ecol Evol; 2021 May; 11(10):5484-5496. PubMed ID: 34026022
[TBL] [Abstract][Full Text] [Related]
60. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
;
Am J Hum Genet; 2021 Jun; 108(6):965-982. PubMed ID: 33932343
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]