BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

454 related articles for article (PubMed ID: 30827496)

  • 1. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
    Cogné B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjöld M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla ØL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk ØL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Coban Akdemir ZH; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; ; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denommé-Pichon AS; ; Férec C; Yang XJ; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bézieau S; Küry S; Campeau PM
    Am J Hum Genet; 2019 Mar; 104(3):530-541. PubMed ID: 30827496
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
    Yan K; Rousseau J; Littlejohn RO; Kiss C; Lehman A; Rosenfeld JA; Stumpel CTR; Stegmann APA; Robak L; Scaglia F; Nguyen TTM; Fu H; Ajeawung NF; Camurri MV; Li L; Gardham A; Panis B; Almannai M; Sacoto MJG; Baskin B; Ruivenkamp C; Xia F; Bi W; ; ; Cho MT; Potjer TP; Santen GWE; Parker MJ; Canham N; McKinnon M; Potocki L; MacKenzie JJ; Roeder ER; Campeau PM; Yang XJ
    Am J Hum Genet; 2017 Jan; 100(1):91-104. PubMed ID: 27939640
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neurogenetic analysis of childhood disintegrative disorder.
    Gupta AR; Westphal A; Yang DYJ; Sullivan CAW; Eilbott J; Zaidi S; Voos A; Vander Wyk BC; Ventola P; Waqar Z; Fernandez TV; Ercan-Sencicek AG; Walker MF; Choi M; Schneider A; Hedderly T; Baird G; Friedman H; Cordeaux C; Ristow A; Shic F; Volkmar FR; Pelphrey KA
    Mol Autism; 2017; 8():19. PubMed ID: 28392909
    [TBL] [Abstract][Full Text] [Related]  

  • 5. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
    Guo H; Zhang Q; Dai R; Yu B; Hoekzema K; Tan J; Tan S; Jia X; Chung WK; Hernan R; Alkuraya FS; Alsulaiman A; Al-Muhaizea MA; Lesca G; Pons L; Labalme A; Laux L; Bryant E; Brown NJ; Savva E; Ayres S; Eratne D; Peeters H; Bilan F; Letienne-Cejudo L; Gilbert-Dussardier B; Ruiz-Arana IL; Merlini JM; Boizot A; Bartoloni L; Santoni F; Karlowicz D; McDonald M; Wu H; Hu Z; Chen G; Ou J; Brasch-Andersen C; Fagerberg CR; Dreyer I; Chun-Hui Tsai A; Slegesky V; McGee RB; Daniels B; Sellars EA; Carpenter LA; Schaefer B; Sacoto MJG; Begtrup A; Schnur RE; Punj S; Wentzensen IM; Rhodes L; Pan Q; Bernier RA; Chen C; Eichler EE; Xia K
    Am J Hum Genet; 2020 Nov; 107(5):963-976. PubMed ID: 33157009
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
    Latypova X; Vincent M; Mollé A; Adebambo OA; Fourgeux C; Khan TN; Caro A; Rosello M; Orellana C; Niyazov D; Lederer D; Deprez M; Capri Y; Kannu P; Tabet AC; Levy J; Aten E; den Hollander N; Splitt M; Walia J; Immken LL; Stankiewicz P; McWalter K; Suchy S; Louie RJ; Bell S; Stevenson RE; Rousseau J; Willem C; Retiere C; Yang XJ; Campeau PM; Martinez F; Rosenfeld JA; Le Caignec C; Küry S; Mercier S; Moradkhani K; Conrad S; Besnard T; Cogné B; Katsanis N; Bézieau S; Poschmann J; Davis EE; Isidor B
    Am J Hum Genet; 2021 May; 108(5):929-941. PubMed ID: 33811806
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
    Humbert J; Salian S; Makrythanasis P; Lemire G; Rousseau J; Ehresmann S; Garcia T; Alasiri R; Bottani A; Hanquinet S; Beaver E; Heeley J; Smith ACM; Berger SI; Antonarakis SE; Yang XJ; Côté J; Campeau PM
    Am J Hum Genet; 2020 Sep; 107(3):564-574. PubMed ID: 32822602
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
    Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
    Shang L; Henderson LB; Cho MT; Petrey DS; Fong CT; Haude KM; Shur N; Lundberg J; Hauser N; Carmichael J; Innis J; Schuette J; Wu YW; Asaikar S; Pearson M; Folk L; Retterer K; Monaghan KG; Chung WK
    Neurogenetics; 2016 Jan; 17(1):43-9. PubMed ID: 26576547
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
    Reijnders MRF; Miller KA; Alvi M; Goos JAC; Lees MM; de Burca A; Henderson A; Kraus A; Mikat B; de Vries BBA; Isidor B; Kerr B; Marcelis C; Schluth-Bolard C; Deshpande C; Ruivenkamp CAL; Wieczorek D; ; Baralle D; Blair EM; Engels H; Lüdecke HJ; Eason J; Santen GWE; Clayton-Smith J; Chandler K; Tatton-Brown K; Payne K; Helbig K; Radtke K; Nugent KM; Cremer K; Strom TM; Bird LM; Sinnema M; Bitner-Glindzicz M; van Dooren MF; Alders M; Koopmans M; Brick L; Kozenko M; Harline ML; Klaassens M; Steinraths M; Cooper NS; Edery P; Yap P; Terhal PA; van der Spek PJ; Lakeman P; Taylor RL; Littlejohn RO; Pfundt R; Mercimek-Andrews S; Stegmann APA; Kant SG; McLean S; Joss S; Swagemakers SMA; Douzgou S; Wall SA; Küry S; Calpena E; Koelling N; McGowan SJ; Twigg SRF; Mathijssen IMJ; Nellaker C; Brunner HG; Wilkie AOM
    Am J Hum Genet; 2018 Jun; 102(6):1195-1203. PubMed ID: 29861108
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
    Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT
    Genet Med; 2019 Sep; 21(9):2059-2069. PubMed ID: 30923367
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
    Reynhout S; Jansen S; Haesen D; van Belle S; de Munnik SA; Bongers EMHF; Schieving JH; Marcelis C; Amiel J; Rio M; Mclaughlin H; Ladda R; Sell S; Kriek M; Peeters-Scholte CMPCD; Terhal PA; van Gassen KL; Verbeek N; Henry S; Scott Schwoerer J; Malik S; Revencu N; Ferreira CR; Macnamara E; Braakman HMH; Brimble E; Ruzhnikov MRZ; Wagner M; Harrer P; Wieczorek D; Kuechler A; Tziperman B; Barel O; de Vries BBA; Gordon CT; Janssens V; Vissers LELM
    Am J Hum Genet; 2019 Jan; 104(1):139-156. PubMed ID: 30595372
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
    Tessarech M; Friocourt G; Marguet F; Lecointre M; Le Mao M; Díaz RM; Mignot C; Keren B; Héron B; De Bie C; Van Gassen K; Loisel D; Delorme B; Syrbe S; Klabunde-Cherwon A; Jamra RA; Wegler M; Callewaert B; Dheedene A; Zidane-Marinnes M; Guichet A; Bris C; Van Bogaert P; Biquard F; Lenaers G; Marcorelles P; Ferec C; Gonzalez B; Procaccio V; Vitobello A; Bonneau D; Laquerriere A; Khiati S; Colin E
    Genet Med; 2024 May; 26(5):101087. PubMed ID: 38288683
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
    Zweier M; Begemann A; McWalter K; Cho MT; Abela L; Banka S; Behring B; Berger A; Brown CW; Carneiro M; Chen J; Cooper GM; ; Finnila CR; Guillen Sacoto MJ; Henderson A; Hüffmeier U; Joset P; Kerr B; Lesca G; Leszinski GS; McDermott JH; Meltzer MR; Monaghan KG; Mostafavi R; Õunap K; Plecko B; Powis Z; Purcarin G; Reimand T; Riedhammer KM; Schreiber JM; Sirsi D; Wierenga KJ; Wojcik MH; Papuc SM; Steindl K; Sticht H; Rauch A
    Eur J Hum Genet; 2019 May; 27(5):747-759. PubMed ID: 30664714
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
    Thai MHN; Gardner A; Redpath L; Mattiske T; Dearsley O; Shaw M; Vulto-van Silfhout AT; Pfundt R; Dixon J; McGaughran J; Pérez-Jurado LA; Gécz J; Shoubridge C
    Hum Mutat; 2020 Aug; 41(8):1407-1424. PubMed ID: 32383243
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
    Vasileiou G; Vergarajauregui S; Endele S; Popp B; Büttner C; Ekici AB; Gerard M; Bramswig NC; Albrecht B; Clayton-Smith J; Morton J; Tomkins S; Low K; Weber A; Wenzel M; Altmüller J; Li Y; Wollnik B; Hoganson G; Plona MR; Cho MT; ; Thiel CT; Lüdecke HJ; Strom TM; Calpena E; Wilkie AOM; Wieczorek D; Engel FB; Reis A
    Am J Hum Genet; 2018 Mar; 102(3):468-479. PubMed ID: 29429572
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
    Sakaguchi A; Yamashita Y; Ishii T; Uehara T; Kosaki K; Takahashi T; Takenouchi T
    Eur J Med Genet; 2019 Jun; 62(6):103537. PubMed ID: 30213762
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.