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.
24. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Palmer EE; Whitton C; Hashem MO; Clark RD; Ramanathan S; Starr LJ; Velasco D; De Dios JK; Singh E; Cormier-Daire V; Chopra M; Rodan LH; Nellaker C; Lakhani S; Mallack EJ; Panzer K; Sidhu A; Wentzensen IM; Lacombe D; Michaud V; Alkuraya FS Clin Genet; 2021 Oct; 100(4):468-477. PubMed ID: 34212383 [TBL] [Abstract][Full Text] [Related]
25. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. Kvarnung M; Taylan F; Nilsson D; Anderlid BM; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjöld M; Nordgren A; Lundberg ES Clin Genet; 2018 Dec; 94(6):528-537. PubMed ID: 30221345 [TBL] [Abstract][Full Text] [Related]
26. PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. Shaheen R; Tasak M; Maddirevula S; Abdel-Salam GMH; Sayed ISM; Alazami AM; Al-Sheddi T; Alobeid E; Phizicky EM; Alkuraya FS Hum Genet; 2019 Mar; 138(3):231-239. PubMed ID: 30778726 [TBL] [Abstract][Full Text] [Related]
27. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene. Trimouille A; Lasseaux E; Barat P; Deiller C; Drunat S; Rooryck C; Arveiler B; Lacombe D Clin Genet; 2018 Feb; 93(2):374-377. PubMed ID: 28617965 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. The clinical presentation caused by truncating CHD8 variants. Douzgou S; Liang HW; Metcalfe K; Somarathi S; Tischkowitz M; Mohamed W; Kini U; McKee S; Yates L; Bertoli M; Lynch SA; Holder S; ; Banka S Clin Genet; 2019 Jul; 96(1):72-84. PubMed ID: 31001818 [TBL] [Abstract][Full Text] [Related]
31. Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. Li Y; Jia X; Wu H; Xun G; Ou J; Zhang Q; Li H; Bai T; Hu Z; Zou X; Xia K; Guo H Am J Med Genet A; 2018 Dec; 176(12):2668-2676. PubMed ID: 30537371 [TBL] [Abstract][Full Text] [Related]
32. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. Broly M; Polevoda BV; Awayda KM; Tong N; Lentini J; Besnard T; Deb W; O'Rourke D; Baptista J; Ellard S; Almannai M; Hashem M; Abdulwahab F; Shamseldin H; Al-Tala S; Alkuraya FS; Leon A; van Loon RLE; Ferlini A; Sanchini M; Bigoni S; Ciorba A; van Bokhoven H; Iqbal Z; Al-Maawali A; Al-Murshedi F; Ganesh A; Al-Mamari W; Lim SC; Pais LS; Brown N; Riazuddin S; Bézieau S; Fu D; Isidor B; Cogné B; O'Connell MR Am J Hum Genet; 2022 Apr; 109(4):587-600. PubMed ID: 35196516 [TBL] [Abstract][Full Text] [Related]
33. Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. Evers C; Staufner C; Granzow M; Paramasivam N; Hinderhofer K; Kaufmann L; Fischer C; Thiel C; Opladen T; Kotzaeridou U; Wiemann S; Schlesner M; Eils R; Kölker S; Bartram CR; Hoffmann GF; Moog U Mol Genet Metab; 2017 Aug; 121(4):297-307. PubMed ID: 28688840 [TBL] [Abstract][Full Text] [Related]
34. Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant. Sedláčková L; Laššuthová P; Štěrbová K; Vlčková M; Kudr M; Buksakowska I; Staněk D; Seeman P Eur J Med Genet; 2021 Sep; 64(9):104263. PubMed ID: 34174466 [TBL] [Abstract][Full Text] [Related]
35. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. Zech M; Kopajtich R; Steinbrücker K; Bris C; Gueguen N; Feichtinger RG; Achleitner MT; Duzkale N; Périvier M; Koch J; Engelhardt H; Freisinger P; Wagner M; Brunet T; Berutti R; Smirnov D; Navaratnarajah T; Rodenburg RJT; Pais LS; Austin-Tse C; O'Leary M; Boesch S; Jech R; Bakhtiari S; Jin SC; Wilbert F; Kruer MC; Wortmann SB; Eckenweiler M; Mayr JA; Distelmaier F; Steinfeld R; Winkelmann J; Prokisch H Ann Neurol; 2022 Feb; 91(2):225-237. PubMed ID: 34954817 [TBL] [Abstract][Full Text] [Related]
36. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia. Asif M; Khayyat AIA; Alawbathani S; Abdullah U; Sanner A; Georgomanolis T; Haasters J; Becker K; Budde B; Becker C; Thiele H; Baig SM; Isidoro-García M; Winter D; Pogoda HM; Muhammad S; Hammerschmidt M; Kraft F; Kurth I; Martin HG; Wagner M; Nürnberg P; Hussain MS Genet Med; 2024 Jul; 26(7):101143. PubMed ID: 38641995 [TBL] [Abstract][Full Text] [Related]
37. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Rehman AU; Najafi M; Kambouris M; Al-Gazali L; Makrythanasis P; Rad A; Maroofian R; Rajab A; Stark Z; Hunter JV; Bakey Z; Tokita MJ; He W; Vetrini F; Petersen A; Santoni FA; Hamamy H; Wu K; Al-Jasmi F; Helmstädter M; Arnold SJ; Xia F; Richmond C; Liu P; Karimiani EG; Karami Madani G; Lunke S; El-Shanti H; Eng CM; Antonarakis SE; Hertecant J; Walkiewicz M; Yang Y; Schmidts M Hum Mutat; 2019 Mar; 40(3):267-280. PubMed ID: 30520571 [TBL] [Abstract][Full Text] [Related]