189 related articles for article (PubMed ID: 35567594)
1. 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]
2. Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Regan-Fendt KE; Rippert AL; Medne L; Skraban CM; DeJesse J; Gray C; Reichert SL; Staropoli NP; Santos FJR; Krantz ID; Murrell JR; Izumi K
Am J Med Genet A; 2023 Aug; 191(8):2149-2155. PubMed ID: 37212523
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Hiatt SM; Thompson ML; Prokop JW; Lawlor JMJ; Gray DE; Bebin EM; Rinne T; Kempers M; Pfundt R; van Bon BW; Mignot C; Nava C; Depienne C; Kalsner L; Rauch A; Joset P; Bachmann-Gagescu R; Wentzensen IM; McWalter K; Cooper GM
Am J Hum Genet; 2019 Apr; 104(4):701-708. PubMed ID: 30879638
[TBL] [Abstract][Full Text] [Related]
6. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Mattioli F; Hayot G; Drouot N; Isidor B; Courraud J; Hinckelmann MV; Mau-Them FT; Sellier C; Goldman A; Telegrafi A; Boughton A; Gamble C; Moutton S; Quartier A; Jean N; Van Ness P; Grotto S; Nambot S; Douglas G; Si YC; Chelly J; Shad Z; Kaplan E; Dineen R; Golzio C; Charlet-Berguerand N; Mandel JL; Piton A
Am J Hum Genet; 2020 Apr; 106(4):438-452. PubMed ID: 32197073
[TBL] [Abstract][Full Text] [Related]
7. De novo
Webster E; Cho MT; Alexander N; Desai S; Naidu S; Bekheirnia MR; Lewis A; Retterer K; Juusola J; Chung WK
Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001172. PubMed ID: 27900362
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Pathogenic variants in
Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
[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 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]
12. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM; Cho MT; Telegrafi A; Wilson A; Brooks S; Botti C; Gowans G; Autullo LA; Krishnamurthy V; Willing MC; Toler TL; Ben-Zev B; Elpeleg O; Shen Y; Retterer K; Monaghan KG; Chung WK
Am J Hum Genet; 2016 Sep; 99(3):728-734. PubMed ID: 27545675
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS; Duncan AR; Genetti CA; Pan H; Jackson A; Grant PE; Shi J; Pinelli M; Brunetti-Pierri N; Garza-Flores A; Shahani D; Saneto RP; Zampino G; Leoni C; Agolini E; Novelli A; Blümlein U; Haack TB; Heinritz W; Matzker E; Alhaddad B; Abou Jamra R; Bartolomaeus T; AlHamdan S; Carapito R; Isidor B; Bahram S; Ritter A; Izumi K; Shakked BP; Barel O; Ben Zeev B; Begtrup A; Carere DA; Mullegama SV; Palculict TB; Calame DG; Schwan K; Aycinena ARP; Traberg R; ; Douzgou S; Pirt H; Ismayilova N; Banka S; Chao HT; Agrawal PB
Am J Hum Genet; 2023 Jan; 110(1):120-145. PubMed ID: 36528028
[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. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E; Garde A; Gautier T; Rooney K; Duffourd Y; LeBlanc P; van Reempts E; Tran Mau-Them F; Wentzensen IM; Au KS; Richardson K; Northrup H; Gatinois V; Geneviève D; Louie RJ; Lyons MJ; Laulund LW; Brasch-Andersen C; Maxel Juul T; El It F; Marle N; Callier P; Relator R; Haghshenas S; McConkey H; Kerkhof J; Cesario C; Novelli A; Brunetti-Pierri N; Pinelli M; Pennamen P; Naudion S; Legendre M; Courdier C; Trimouille A; Fenzy MD; Pais L; Yeung A; Nugent K; Roeder ER; Mitani T; Posey JE; Calame D; Yonath H; Rosenfeld JA; Musante L; Faletra F; Montanari F; Sartor G; Vancini A; Seri M; Besmond C; Poirier K; Hubert L; Hemelsoet D; Munnich A; Lupski JR; Philippe C; Thauvin-Robinet C; Faivre L; Sadikovic B; Govin J; Dermaut B; Vitobello A
Am J Hum Genet; 2023 May; 110(5):790-808. PubMed ID: 37071997
[TBL] [Abstract][Full Text] [Related]
18. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S; Gupta A; Zech M; Sigafoos AN; Clark KJ; Dincer Y; Wagner M; Humberson JB; Green S; van Gassen K; Brandt T; Schnur RE; Millan F; Si Y; Mall V; Winkelmann J; Gavrilova RH; Klee EW; Engleman K; Safina NP; Slaugh R; Bryant EM; Tan WH; Granadillo J; Misra SN; Schaefer GB; Towner S; Brilstra EH; Koeleman BPC
Genet Med; 2020 Aug; 22(8):1413-1417. PubMed ID: 32366965
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S; Albaba S; Carere DA; Guillen Sacoto MJ; Milan Zamora F; Si Y; Rabin R; Pappas J; Renaud DL; Hauser N; Reid E; Blanchet P; Foulds N; Dixit A; Fisher R; Armstrong R; Isidor B; Cogne B; Schrier Vergano S; Demirdas S; Dykzeul N; Cohen JS; Grand K; Morel D; Slavotinek A; Albassam HF; Naik S; Dean J; Ragge N; Costa C; Tedesco MG; Harrison RE; Bouman A; Palen E; Challman TD; Willemsen MH; Vogt J; Cunniff C; Bergstrom K; Walia JS; Bruel AL; Kini U; Alkuraya FS; Slegesky V; Meeks N; Girotto P; Johnson D; ; Newbury-Ecob R; Ockeloen CW; Prontera P; Lynch SA; Li D; Graham JM; Pierson TM; Balasubramanian M
Am J Med Genet A; 2021 Nov; 185(11):3446-3458. PubMed ID: 34436830
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
