BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 37092538)

  • 21. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
    Luppe J; Sticht H; Lecoquierre F; Goldenberg A; Gorman KM; Molloy B; Agolini E; Novelli A; Briuglia S; Kuismin O; Marcelis C; Vitobello A; Denommé-Pichon AS; Julia S; Lemke JR; Abou Jamra R; Platzer K
    Eur J Hum Genet; 2023 Mar; 31(3):345-352. PubMed ID: 36564538
    [TBL] [Abstract][Full Text] [Related]  

  • 22. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
    Royer-Bertrand B; Jequier Gygax M; Cisarova K; Rosenfeld JA; Bassetti JA; Moldovan O; O'Heir E; Burrage LC; Allen J; Emrick LT; Eastman E; Kumps C; Abbas S; Van Winckel G; ; Chabane N; Zackai EH; Lebon S; Keena B; Bhoj EJ; Umair M; Li D; Donald KA; Superti-Furga A
    Mol Autism; 2021 Oct; 12(1):69. PubMed ID: 34702355
    [TBL] [Abstract][Full Text] [Related]  

  • 23. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
    Poggio E; Barazzuol L; Salmaso A; Milani C; Deligiannopoulou A; Cazorla ÁG; Jang SS; Juliá-Palacios N; Keren B; Kopajtich R; Lynch SA; Mignot C; Moorwood C; Neuhofer C; Nigro V; Oostra A; Prokisch H; Saillour V; Schuermans N; Torella A; Verloo P; Yazbeck E; Zollino M; Jech R; Winkelmann J; Necpal J; Calì T; Brini M; Zech M
    Genet Med; 2023 Dec; 25(12):100971. PubMed ID: 37675773
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
    Langhammer F; Maroofian R; Badar R; Gregor A; Rochman M; Ratliff JB; Koopmans M; Herget T; Hempel M; Kortüm F; Heron D; Mignot C; Keren B; Brooks S; Botti C; Ben-Zeev B; Argilli E; Sherr EH; Gowda VK; Srinivasan VM; Bakhtiari S; Kruer MC; Salih MA; Kuechler A; Muller EA; Blocker K; Kuismin O; Park KL; Kochhar A; Brown K; Ramanathan S; Clark RD; Elgizouli M; Melikishvili G; Tabatadze N; Stark Z; Mirzaa GM; Ong J; Grasshoff U; Bevot A; von Wintzingerode L; Jamra RA; Hennig Y; Goldenberg P; Al Alam C; Charif M; Boulouiz R; Bellaoui M; Amrani R; Al Mutairi F; Tamim AM; Abdulwahab F; Alkuraya FS; Khouj EM; Alvi JR; Sultan T; Hashemi N; Karimiani EG; Ashrafzadeh F; Imannezhad S; Efthymiou S; Houlden H; Sticht H; Zweier C
    Genet Med; 2023 Aug; 25(8):100885. PubMed ID: 37165955
    [TBL] [Abstract][Full Text] [Related]  

  • 25. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
    Sleyp Y; Valenzuela I; Accogli A; Ballon K; Ben-Zeev B; Berkovic SF; Broly M; Callaerts P; Caylor RC; Charles P; Chatron N; Cohen L; Coppola A; Cordeiro D; Cuccurullo C; Cuscó I; Janette diMonda ; Duran-Romaña R; Ekhilevitch N; Fernández-Alvarez P; Gordon CT; Isidor B; Keren B; Lesca G; Maljaars J; Mercimek-Andrews S; Morrow MM; Muir AM; ; Rousseau F; Salpietro V; Scheffer IE; Schnur RE; Schymkowitz J; Souche E; Steyaert J; Stolerman ES; Vengoechea J; Ville D; Washington C; Weiss K; Zaid R; Sadleir LG; Mefford HC; Peeters H
    Genet Med; 2022 Dec; 24(12):2464-2474. PubMed ID: 36214804
    [TBL] [Abstract][Full Text] [Related]  

  • 26. SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.
    Hu Y; Zhang B; Chen L; He J; Yang L; Chen X
    Seizure; 2024 Mar; 116():113-118. PubMed ID: 37891035
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
    Vogel FD; Krenn M; Westphal DS; Graf E; Wagner M; Leiz S; Koniuszewski F; Augé-Stock M; Kramer G; Scholze P; Ernst M
    Epilepsia; 2022 Apr; 63(4):e35-e41. PubMed ID: 35152403
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of
    Happ HC; Sadleir LG; Zemel M; de Valles-Ibáñez G; Hildebrand MS; McConkie-Rosell A; McDonald M; May H; Sands T; Aggarwal V; Elder C; Feyma T; Bayat A; Møller RS; Fenger CD; Klint Nielsen JE; Datta AN; Gorman KM; King MD; Linhares ND; Burton BK; Paras A; Ellard S; Rankin J; Shukla A; Majethia P; Olson RJ; Muthusamy K; Schimmenti LA; Starnes K; Sedláčková L; Štěrbová K; Vlčková M; Laššuthová P; Jahodová A; Porter BE; Couque N; Colin E; Prouteau C; Collet C; Smol T; Caumes R; Vansenne F; Bisulli F; Licchetta L; Person R; Torti E; McWalter K; Webster R; Gerard EE; Lesca G; Szepetowski P; Scheffer IE; Mefford HC; Carvill GL
    Neurology; 2023 Feb; 100(6):e603-e615. PubMed ID: 36307226
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
    Niu Y; Qian Q; Li J; Gong P; Jiao X; Mao X; Xiao B; Long L; Yang Z
    Clin Genet; 2022 Apr; 101(4):459-465. PubMed ID: 35060114
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Heterozygous variants in SPTBN1 cause intellectual disability and autism.
    Rosenfeld JA; Xiao R; Bekheirnia MR; Kanani F; Parker MJ; Koenig MK; van Haeringen A; Ruivenkamp C; Rosmaninho-Salgado J; Almeida PM; Sá J; Pinto Basto J; Palen E; Oetjens KF; Burrage LC; Xia F; Liu P; Eng CM; ; Yang Y; Posey JE; Lee BH
    Am J Med Genet A; 2021 Jul; 185(7):2037-2045. PubMed ID: 33847457
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
    Khan K; Zech M; Morgan AT; Amor DJ; Skorvanek M; Khan TN; Hildebrand MS; Jackson VE; Scerri TS; Coleman M; Rigbye KA; Scheffer IE; Bahlo M; Wagner M; Lam DD; Berutti R; Havránková P; Fečíková A; Strom TM; Han V; Dosekova P; Gdovinova Z; Laccone F; Jameel M; Mooney MR; Baig SM; Jech R; Davis EE; Katsanis N; Winkelmann J
    Genet Med; 2019 Nov; 21(11):2532-2542. PubMed ID: 31036918
    [TBL] [Abstract][Full Text] [Related]  

  • 34. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
    Rossi A; Blok LS; Neuser S; Klöckner C; Platzer K; Faivre LO; Weigand H; Dentici ML; Tartaglia M; Niceta M; Alfieri P; Srivastava S; Coulter D; Smith L; Vinorum K; Cappuccio G; Brunetti-Pierri N; Torun D; Arslan M; Lauridsen MF; Murch O; Irving R; Lynch SA; Mehta SG; Carmichael J; Zonneveld-Huijssoon E; de Vries B; Kleefstra T; Johannesen KM; Westphall IT; Hughes SS; Smithson S; Evans J; Dudding-Byth T; Simon M; van Binsbergen E; Herkert JC; Beunders G; Oppermann H; Bakal M; Møller RS; Rubboli G; Bayat A
    Clin Genet; 2023 Aug; 104(2):186-197. PubMed ID: 37165752
    [TBL] [Abstract][Full Text] [Related]  

  • 35. U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.
    Kittock CM; Saifeddine M; Straight L; Ward DI
    Am J Med Genet A; 2023 Jul; 191(7):1968-1972. PubMed ID: 37092751
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
    Christensen MB; Levy AM; Mohammadi NA; Niceta M; Kaiyrzhanov R; Dentici ML; Al Alam C; Alesi V; Benoit V; Bhatia KP; Bierhals T; Boßelmann CM; Buratti J; Callewaert B; Ceulemans B; Charles P; De Wachter M; Dehghani M; D'haenens E; Doco-Fenzy M; Geßner M; Gobert C; Guliyeva U; Haack TB; Hammer TB; Heinrich T; Hempel M; Herget T; Hoffmann U; Horvath J; Houlden H; Keren B; Kresge C; Kumps C; Lederer D; Lermine A; Magrinelli F; Maroofian R; Vahidi Mehrjardi MY; Moudi M; Müller AJ; Oostra AJ; Pletcher BA; Ros-Pardo D; Samarasekera S; Tartaglia M; Van Schil K; Vogt J; Wassmer E; Winkelmann J; Zaki MS; Zech M; Lerche H; Radio FC; Gomez-Puertas P; Møller RS; Tümer Z
    Clin Genet; 2022 Aug; 102(2):98-109. PubMed ID: 35616059
    [TBL] [Abstract][Full Text] [Related]  

  • 38. DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
    Wu WC; Liang XY; Zhang DM; Jin L; Liu ZG; Zeng XL; Zhai QX; Liao WP; He N; Meng XH
    Seizure; 2024 Mar; 116():119-125. PubMed ID: 37903666
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
    Garber A; Weingarten LS; Abreu NJ; Elloumi HZ; Haack T; Hildebrant C; Martínez-Gil N; Mathews J; Müller AJ; Valenzuela Palafoll I; Steigerwald C; Chung WK
    Am J Med Genet A; 2024 Jul; 194(7):e63578. PubMed ID: 38425142
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
    Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
    Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.