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2. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Beck DB; Petracovici A; He C; Moore HW; Louie RJ; Ansar M; Douzgou S; Sithambaram S; Cottrell T; Santos-Cortez RLP; Prijoles EJ; Bend R; Keren B; Mignot C; Nougues MC; Õunap K; Reimand T; Pajusalu S; Zahid M; Saqib MAN; Buratti J; Seaby EG; McWalter K; Telegrafi A; Baldridge D; Shinawi M; Leal SM; Schaefer GB; Stevenson RE; Banka S; Bonasio R; Fahrner JA Am J Hum Genet; 2020 Feb; 106(2):234-245. PubMed ID: 31928709 [TBL] [Abstract][Full Text] [Related]
3. A New De Novo Missense Variant of the Foti MRS; Tedesco MG; Colavito D; Rogaia D; Mencarelli A; Schippa M; Gradassi C; Romani R; Ardisia C; Prontera P Int J Mol Sci; 2024 Sep; 25(17):. PubMed ID: 39273623 [TBL] [Abstract][Full Text] [Related]
4. A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms. Mizukami M; Ishikawa A; Miyazaki S; Tsuzuki A; Saito S; Niihori T; Sakurai A Brain Dev; 2021 Apr; 43(4):563-565. PubMed ID: 33358638 [TBL] [Abstract][Full Text] [Related]
5. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258 [TBL] [Abstract][Full Text] [Related]
6. A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep. Sager SG; Turkyilmaz A; Gunbey HP; Karatoprak EY; Aslan ES; Akın Y Brain Dev; 2023 Feb; 45(2):140-145. PubMed ID: 36192301 [TBL] [Abstract][Full Text] [Related]
7. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Nabais Sá MJ; El Tekle G; de Brouwer APM; Sawyer SL; Del Gaudio D; Parker MJ; Kanani F; van den Boogaard MH; van Gassen K; Van Allen MI; Wierenga K; Purcarin G; Elias ER; Begtrup A; Keller-Ramey J; Bernasocchi T; van de Wiel L; Gilissen C; Venselaar H; Pfundt R; Vissers LELM; Theurillat JP; de Vries BBA Am J Hum Genet; 2020 Mar; 106(3):405-411. PubMed ID: 32109420 [TBL] [Abstract][Full Text] [Related]
8. Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree. Sun S; Chen L; Wang Y; Wang J; Li N; Wang X Mol Genet Genomic Med; 2020 Dec; 8(12):e1518. PubMed ID: 33002343 [TBL] [Abstract][Full Text] [Related]
9. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report. Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature. Man A; Di Scipio M; McConkey H; Hough R; Stein N; Diehl E; Marshall CR; Sadikovic B; Ejaz R Am J Med Genet A; 2024 Sep; ():e63864. PubMed ID: 39324309 [TBL] [Abstract][Full Text] [Related]
13. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808 [TBL] [Abstract][Full Text] [Related]
14. Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. Li D; Downes H; Hou C; Hakonarson H; Zackai EH; Schrier Vergano SA; Bhoj EJ Am J Med Genet A; 2022 Mar; 188(3):878-882. PubMed ID: 34881817 [TBL] [Abstract][Full Text] [Related]
15. Differential regulation of the ten-eleven translocation (TET) family of dioxygenases by O-linked β-N-acetylglucosamine transferase (OGT). Zhang Q; Liu X; Gao W; Li P; Hou J; Li J; Wong J J Biol Chem; 2014 Feb; 289(9):5986-96. PubMed ID: 24394411 [TBL] [Abstract][Full Text] [Related]
16. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Muir AM; Gardner JF; van Jaarsveld RH; de Lange IM; van der Smagt JJ; Wilson GN; Dubbs H; Goldberg EM; Zitano L; Bupp C; Martinez J; Srour M; Accogli A; Alhakeem A; Meltzer M; Gropman A; Brewer C; Caswell RC; Montgomery T; McKenna C; McKee S; Powell C; Vasudevan PC; Brady AF; Joss S; Tysoe C; Noh G; Tarnopolsky M; Brady L; Zafar M; Schrier Vergano SA; Murray B; Sawyer L; Hainline BE; Sapp K; DeMarzo D; Huismann DJ; Wentzensen IM; Schnur RE; Monaghan KG; Juusola J; Rhodes L; Dobyns WB; Lecoquierre F; Goldenberg A; Polster T; Axer-Schaefer S; Platzer K; Klöckner C; Hoffman TL; MacArthur DG; O'Leary MC; VanNoy GE; England E; Varghese VC; Mefford HC Genet Med; 2021 May; 23(5):881-887. PubMed ID: 33473207 [TBL] [Abstract][Full Text] [Related]
17. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Guillen Sacoto MJ; Tchasovnikarova IA; Torti E; Forster C; Andrew EH; Anselm I; Baranano KW; Briere LC; Cohen JS; Craigen WJ; Cytrynbaum C; Ekhilevitch N; Elrick MJ; Fatemi A; Fraser JL; Gallagher RC; Guerin A; Haynes D; High FA; Inglese CN; Kiss C; Koenig MK; Krier J; Lindstrom K; Marble M; Meddaugh H; Moran ES; Morel CF; Mu W; Muller EA; Nance J; Natowicz MR; Numis AL; Ostrem B; Pappas J; Stafstrom CE; Streff H; Sweetser DA; Szybowska M; ; Walker MA; Wang W; Weiss K; Weksberg R; Wheeler PG; Yoon G; Kingston RE; Juusola J Am J Hum Genet; 2020 Aug; 107(2):352-363. PubMed ID: 32693025 [TBL] [Abstract][Full Text] [Related]
18. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Järvelä I; Määttä T; Acharya A; Leppälä J; Jhangiani SN; Arvio M; Siren A; Kankuri-Tammilehto M; Kokkonen H; Palomäki M; Varilo T; Fang M; Hadley TD; Jolly A; Linnankivi T; Paetau R; Saarela A; Kälviäinen R; Olme J; Nouel-Saied LM; Cornejo-Sanchez DM; Llaci L; Lupski JR; Posey JE; Leal SM; Schrauwen I Hum Genet; 2021 Jul; 140(7):1011-1029. PubMed ID: 33710394 [TBL] [Abstract][Full Text] [Related]
19. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. Levy MA; Beck DB; Metcalfe K; Douzgou S; Sithambaram S; Cottrell T; Ansar M; Kerkhof J; Mignot C; Nougues MC; Keren B; Moore HW; Oegema R; Giltay JC; Simon M; van Jaarsveld RH; Bos J; van Haelst M; Motazacker MM; Boon EMJ; Santen GWE; Ruivenkamp CAL; Alders M; Luperchio TR; Boukas L; Ramsey K; Narayanan V; Schaefer GB; Bonasio R; Doheny KF; Stevenson RE; Banka S; Sadikovic B; Fahrner JA NPJ Genom Med; 2021 Nov; 6(1):92. PubMed ID: 34750377 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]