163 related articles for article (PubMed ID: 38531365)
1. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV; Kiernan KA; Torti E; Pavlovsky E; Tilton N; Sekula A; Gao H; Alaimo JT; Engleman K; Rush ET; Blocker K; Dipple KM; Fettig VM; Hare H; Glass I; Grange DK; Griffin M; Phornphutkul C; Massingham L; Mehta L; Miller DE; Thies J; Merritt JL; Muller E; Osmond M; Sawyer SL; Slaugh R; Hickey RE; Wolf B; ; ; Choudhary S; Simonović M; Zhang Y; Palculict TB; Telegrafi A; Carere DA; Wentzensen IM; Morrow MM; Monaghan KG; Yang J; Juusola J
Am J Hum Genet; 2024 Apr; 111(4):778-790. PubMed ID: 38531365
[TBL] [Abstract][Full Text] [Related]
2. Selenophosphate synthetase 1 and its role in redox homeostasis, defense and proliferation.
Na J; Jung J; Bang J; Lu Q; Carlson BA; Guo X; Gladyshev VN; Kim J; Hatfield DL; Lee BJ
Free Radic Biol Med; 2018 Nov; 127():190-197. PubMed ID: 29715549
[TBL] [Abstract][Full Text] [Related]
3. De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R; Splitt M; Genevieve D; Aten E; Collins A; de Bie CI; Faivre L; Foulds N; Giltay J; Ibitoye R; Joss S; Kennedy J; Kerr B; Kivuva E; Koopmans M; Newbury-Ecob R; Jean-Marçais N; Peeters EAJ; Smithson S; Tomkins S; Tranmauthem F; Piton A; van Haeringen A
Eur J Hum Genet; 2019 Nov; 27(11):1677-1682. PubMed ID: 31201375
[TBL] [Abstract][Full Text] [Related]
4. SEPHS1: Its evolution, function and roles in development and diseases.
Bang J; Kang D; Jung J; Yoo TJ; Shim MS; Gladyshev VN; Tsuji PA; Hatfield DL; Kim JH; Lee BJ
Arch Biochem Biophys; 2022 Nov; 730():109426. PubMed ID: 36202216
[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. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK; Wadley A; Tsai CA; Benke PJ; Emrick L; Fisher K; Houck KM; Dai H; ; Guillen Sacoto MJ; Craigen W; Glaser K; Murdock DR; Rohena L; Diderich KEM; Bruggenwirth HT; Lee B; Bacino C; Burrage LC; Rosenfeld JA
Am J Med Genet A; 2024 Jan; 194(1):17-30. PubMed ID: 37743782
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
[TBL] [Abstract][Full Text] [Related]
9. De novo variants in
Tanaka AJ; Cho MT; Willaert R; Retterer K; Zarate YA; Bosanko K; Stefans V; Oishi K; Williamson A; Wilson GN; Basinger A; Barbaro-Dieber T; Ortega L; Sorrentino S; Gabriel MK; Anderson IJ; Sacoto MJG; Schnur RE; Chung WK
Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 29162653
[TBL] [Abstract][Full Text] [Related]
10. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
[TBL] [Abstract][Full Text] [Related]
11. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
Fukuda T; Hiraide T; Yamoto K; Nakashima M; Kawai T; Yanagi K; Ogata T; Saitsu H
Eur J Med Genet; 2020 Apr; 63(4):103804. PubMed ID: 31698099
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Constitutive Oxidative Stress by SEPHS1 Deficiency Induces Endothelial Cell Dysfunction.
Jung J; Kim Y; Na J; Qiao L; Bang J; Kwon D; Yoo TJ; Kang D; Kim LK; Carlson BA; Hatfield DL; Kim JH; Lee BJ
Int J Mol Sci; 2021 Oct; 22(21):. PubMed ID: 34769076
[TBL] [Abstract][Full Text] [Related]
16. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT; Davids M; Burke E; Pappas JG; Rosenfeld JA; McCarty AJ; Davis T; Wolfe L; Toro C; Tifft C; Xia F; Stong N; Johnson TK; Warr CG; ; Yamamoto S; Adams DR; Markello TC; Gahl WA; Bellen HJ; Wangler MF; Malicdan MCV
Am J Hum Genet; 2017 Jan; 100(1):128-137. PubMed ID: 28017372
[TBL] [Abstract][Full Text] [Related]
17. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
[TBL] [Abstract][Full Text] [Related]
18. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S; Nizon M; Isidor B; Stegmann A; van Jaarsveld RH; van Gassen KL; van der Smagt JJ; Volker-Touw CML; Holwerda SJB; Terhal PA; Schuhmann S; Vasileiou G; Khalifa M; Nugud AA; Yasaei H; Ousager LB; Brasch-Andersen C; Deb W; Besnard T; Simon MEH; Amsterdam KH; Verbeek NE; Matalon D; Dykzeul N; White S; Spiteri E; Devriendt K; Boogaerts A; Willemsen M; Brunner HG; Sinnema M; De Vries BBA; Gerkes EH; Pfundt R; Izumi K; Krantz ID; Xu ZL; Murrell JR; Valenzuela I; Cusco I; Rovira-Moreno E; Yang Y; Bizaoui V; Patat O; Faivre L; Tran-Mau-Them F; Vitobello A; Denommé-Pichon AS; Philippe C; Bezieau S; Cogné B
Genet Med; 2022 Aug; 24(8):1774-1780. PubMed ID: 35567594
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
