177 related articles for article (PubMed ID: 37057675)
1. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Schmid CM; Gregor A; Costain G; Morel CF; Massingham L; Schwab J; Quélin C; Faoucher M; Kaplan J; Procopio R; Saunders CJ; Cohen ASA; Lemire G; Sacharow S; O'Donnell-Luria A; Segal RJ; Kianmahd Shamshoni J; Schweitzer D; Ebrahimi-Fakhari D; Monaghan K; Palculict TB; Napier MP; Tao A; Isidor B; Moradkhani K; Reis A; Sticht H; ; Chung WK; Zweier C
Genet Med; 2023 Jul; 25(7):100839. PubMed ID: 37057675
[TBL] [Abstract][Full Text] [Related]
2. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Gofin Y; Wang T; Gillentine MA; Scott TM; Berry AM; Azamian MS; Genetti C; Agrawal PB; Picker J; Wojcik MH; Delgado MR; Lynch SA; Scherer SW; Howe JL; Bacino CA; DiTroia S; VanNoy GE; O'Donnell-Luria A; Lalani SR; Graf WD; Rosenfeld JA; Eichler EE; Earl RK; Scott DA
Hum Mutat; 2022 Apr; 43(4):461-470. PubMed ID: 35094443
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Semino F; Schröter J; Willemsen MH; Bast T; Biskup S; Beck-Woedl S; Brennenstuhl H; Schaaf CP; Kölker S; Hoffmann GF; Haack TB; Syrbe S
Hum Mutat; 2021 Sep; 42(9):1094-1100. PubMed ID: 34157790
[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. 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]
7. Novel CIC variants identified in individuals with neurodevelopmental phenotypes.
Sharma S; Hourigan B; Patel Z; Rosenfeld JA; Chan KM; Wangler MF; Yi JS; Lehman A; ; Horvath G; Cloos PA; Tan Q
Hum Mutat; 2022 Jul; 43(7):889-899. PubMed ID: 35165976
[TBL] [Abstract][Full Text] [Related]
8. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A; Mignot C; Sigafoos A; Blackburn PR; Haseeb A; McWalter K; Ichikawa S; Nava C; Keren B; Charles P; Marey I; Tabet AC; Levy J; Perrin L; Hartmann A; Lesca G; Schluth-Bolard C; Monin P; Dupuis-Girod S; Guillen Sacoto MJ; Schnur RE; Zhu Z; Poisson A; El Chehadeh S; Alembik Y; Bruel AL; Lehalle D; Nambot S; Moutton S; Odent S; Jaillard S; Dubourg C; Hilhorst-Hofstee Y; Barbaro-Dieber T; Ortega L; Bhoj EJ; Masser-Frye D; Bird LM; Lindstrom K; Ramsey KM; Narayanan V; Fassi E; Willing M; Cole T; Salter CG; Akilapa R; Vandersteen A; Canham N; Rump P; Gerkes EH; Klein Wassink-Ruiter JS; Bijlsma E; Hoffer MJV; Vargas M; Wojcik A; Cherik F; Francannet C; Rosenfeld JA; Machol K; Scott DA; Bacino CA; Wang X; Clark GD; Bertoli M; Zwolinski S; Thomas RH; Akay E; Chang RC; Bressi R; Sanchez Russo R; Srour M; Russell L; Goyette AE; Dupuis L; Mendoza-Londono R; Karimov C; Joseph M; Nizon M; Cogné B; Kuechler A; Piton A; ; Klee EW; Lefebvre V; Clark KJ; Depienne C
Genet Med; 2020 Mar; 22(3):524-537. PubMed ID: 31578471
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A; Sadleir LG; Asadollahi R; Azzarello-Burri S; Battaglia A; Ousager LB; Boonsawat P; Bruel AL; Buchert R; Calpena E; Cogné B; Dallapiccola B; Distelmaier F; Elmslie F; Faivre L; Haack TB; Harrison V; Henderson A; Hunt D; Isidor B; Joset P; Kumada S; Lachmeijer AMA; Lees M; Lynch SA; Martinez F; Matsumoto N; McDougall C; Mefford HC; Miyake N; Myers CT; Moutton S; Nesbitt A; Novelli A; Orellana C; Rauch A; Rosello M; Saida K; Santani AB; Sarkar A; Scheffer IE; Shinawi M; Steindl K; Symonds JD; Zackai EH; ; ; Reis A; Sticht H; Zweier C
Am J Hum Genet; 2018 Aug; 103(2):305-316. PubMed ID: 30057029
[TBL] [Abstract][Full Text] [Related]
12. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD; Oleson DS; Rech ME; Segebrecht L; Hunter JV; McCarthy JM; Lupo PJ; Holtgrewe M; Moran R; Rosenfeld JA; Isidor B; Le Caignec C; Saenz MS; Pedersen RC; Morgan TM; Pfotenhauer JP; Xia F; Bi W; Kang SL; Patel A; Krantz ID; Raible SE; Smith W; Cristian I; Torti E; Juusola J; Millan F; Wentzensen IM; Person RE; Küry S; Bézieau S; Uguen K; Férec C; Munnich A; van Haelst M; Lichtenbelt KD; van Gassen K; Hagelstrom T; Chawla A; Perry DL; Taft RJ; Jones M; Masser-Frye D; Dyment D; Venkateswaran S; Li C; Escobar LF; Horn D; Spillmann RC; Peña L; Wierzba J; Strom TM; Parenti I; Kaiser FJ; Ehmke N; Schaaf CP
Genet Med; 2019 Aug; 21(8):1797-1807. PubMed ID: 30679821
[TBL] [Abstract][Full Text] [Related]
13. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Zhang J; Gambin T; Yuan B; Szafranski P; Rosenfeld JA; Balwi MA; Alswaid A; Al-Gazali L; Shamsi AMA; Komara M; Ali BR; Roeder E; McAuley L; Roy DS; Manchester DK; Magoulas P; King LE; Hannig V; Bonneau D; Denommé-Pichon AS; Charif M; Besnard T; Bézieau S; Cogné B; Andrieux J; Zhu W; He W; Vetrini F; Ward PA; Cheung SW; Bi W; Eng CM; Lupski JR; Yang Y; Patel A; Lalani SR; Xia F; Stankiewicz P
Hum Genet; 2017 Apr; 136(4):377-386. PubMed ID: 28251352
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C
Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556
[TBL] [Abstract][Full Text] [Related]
16. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR; Jacobs EZ; Vantomme L; Leblanc P; Bogaert E; Dheedene A; De Cock L; Haghshenas S; Foroutan A; Levy MA; Kerkhof J; McConkey H; Chen CA; Batzir NA; Wang X; Palomares M; Carels M; ; Dermaut B; Sadikovic B; Menten B; Yuan B; Vergult S; Callewaert B
Am J Hum Genet; 2024 Mar; 111(3):509-528. PubMed ID: 38412861
[TBL] [Abstract][Full Text] [Related]
17. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Dias C; Estruch SB; Graham SA; McRae J; Sawiak SJ; Hurst JA; Joss SK; Holder SE; Morton JE; Turner C; Thevenon J; Mellul K; Sánchez-Andrade G; Ibarra-Soria X; Deriziotis P; Santos RF; Lee SC; Faivre L; Kleefstra T; Liu P; Hurles ME; ; Fisher SE; Logan DW
Am J Hum Genet; 2016 Aug; 99(2):253-74. PubMed ID: 27453576
[TBL] [Abstract][Full Text] [Related]
18. De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A; Meerbrei T; Gerstner T; Toutain A; Lynch SA; Stals K; Maxton C; Lemke JR; Bernat JA; Bombei HM; Foulds N; Hunt D; Kuechler A; Beygo J; Stöbe P; Bouman A; Palomares-Bralo M; Santos-Simarro F; Garcia-Minaur S; Pacio-Miguez M; Popp B; Vasileiou G; Hebebrand M; Reis A; Schuhmann S; Krumbiegel M; Brown NJ; Sparber P; Melikyan L; Bessonova L; Cherevatova T; Sharkov A; Shcherbakova N; Dabir T; Kini U; Schwaibold EMC; Haack TB; Bertoli M; Hoffjan S; Falb R; Shinawi M; Sticht H; Zweier C
Hum Mol Genet; 2022 Feb; 31(3):440-454. PubMed ID: 34505148
[TBL] [Abstract][Full Text] [Related]
19. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S; Azamian MS; Mendelsohn BA; Mau-Them FT; Réda M; Nambot S; Isidor B; van der Smagt JJ; Shen JJ; Shillington A; White L; Elloumi HZ; Baker PR; Svihovec S; Brown K; Koopman-Keemink Y; Hoffer MJV; Lakeman IMM; Brischoux-Boucher E; Kinali M; Zhao X; Lalani SR; Scott DA
Am J Med Genet A; 2024 Mar; 194(3):e63445. PubMed ID: 37872713
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
