Details of Disease

General Information of Disease (ID: DIS51975)

• Disease Name: Pervasive developmental disorder
• Synonyms: pervasive development disorders; pervasive child development disorders; pervasive development disorder
• Disease Class: 6A00-6A0Z: Pervasive developmental disorder
• Definition: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.
• Disease Hierarchy:
  DISWIXAA: Developmental disorder of mental health
  DISB9AFI: Complex neurodevelopmental disorder
  DIS51975: Pervasive developmental disorder
• ICD Code: ICD-11: ICD-11: 6A00-6A0Z
• Disease Identifiers:
  MONDO ID: MONDO_0000594
  UMLS CUI: C0524528
  MedGen ID: 99336
  Orphanet ID: 168778
  SNOMED CT ID: 35919005

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Folic Acid	DMEMBJC	Approved	Small molecular drug	[1]
Leucovorin	DMUAZWG	Approved	Small molecular drug	[2]
Levoleucovorin	DMH5LME	Approved	Small molecular drug	[3]

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CX-516	DMSR7D2	Phase 2/3	Small molecular drug	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 44 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADGRL3	TTQST3U	Limited	Genetic Variation	[5]
CACNA1C	TTZIFHC	Limited	Genetic Variation	[6]
DRD3	TT4C8EA	Limited	Biomarker	[7]
ELK3	TT5OJMV	Limited	Biomarker	[8]
GRIK2	TT0K5RG	Limited	Biomarker	[9]
GRIN2B	TTN9D8E	Limited	Biomarker	[10]
SCN1A	TTANOZH	Limited	Genetic Variation	[11]
SCN3A	TTAXZ0K	Limited	Genetic Variation	[12]
SLC19A1	TT09I7D	Limited	Genetic Variation	[13]
UBE3A	TTUZX6V	Limited	Biomarker	[14]
ARHGEF3	TT1R5DZ	Strong	Biomarker	[15]
AVPR1A	TT4TFGN	Strong	Biomarker	[16]
CACNA1D	TT7RGTM	Strong	Genetic Variation	[17]
CACNA1G	TT729IR	Strong	Genetic Variation	[18]
CD38	TTPURFN	Strong	Biomarker	[19]
CHAT	TTKYFSB	Strong	Biomarker	[20]
CHRNA7	TTLA931	Strong	Genetic Variation	[21]
CHRNB2	TT5KPZR	Strong	Genetic Variation	[22]
CS	TTZA6B3	Strong	Biomarker	[23]
CYP11A1	TTSYVO6	Strong	Biomarker	[24]
CYP11B1	TTIQUX7	Strong	Genetic Variation	[24]
DRD4	TTE0A2F	Strong	Biomarker	[25]
EPHA5	TTV9KOD	Strong	Genetic Variation	[26]
FABP3	TT3TGLR	Strong	Genetic Variation	[27]
GAN	TT6WNG2	Strong	Genetic Variation	[28]
GRM7	TT0I76D	Strong	Genetic Variation	[29]
GRM8	TT0IFKL	Strong	Genetic Variation	[30]
HTR2A	TTJQOD7	Strong	Genetic Variation	[31]
HTR2C	TTWJBZ5	Strong	Genetic Variation	[32]
HTR7	TTO9X1H	Strong	Biomarker	[33]
HTT	TTIWZ0O	Strong	Genetic Variation	[34]
KDM5C	TT94UCF	Strong	Genetic Variation	[35]
KMT5B	TTJGV7F	Strong	Biomarker	[36]
MAOA	TT3WG5C	Strong	Altered Expression	[37]
MECP2	TTTAU9R	Strong	Genetic Variation	[38]
MKNK1	TTEZAUX	Strong	Altered Expression	[39]
NUAK1	TT65FL0	Strong	Biomarker	[40]
PLA2G4C	TTBYG4O	Strong	Genetic Variation	[41]
RHD	TTLCKI8	Strong	Genetic Variation	[42]
SCN2A	TTLJTUF	Strong	Genetic Variation	[43]
SLC1A1	TTG2A6F	Strong	Genetic Variation	[44]
SLC6A1	TTPRKM0	Strong	Genetic Variation	[45]
TBL1XR1	TTYXT16	Strong	Genetic Variation	[46]
UCP3	TT12RJK	Strong	Genetic Variation	[13]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP10A	DTTQ8WI	Strong	Biomarker	[47]
SLC25A12	DT85HYR	Strong	Biomarker	[48]
SLC35A3	DTB930Q	Definitive	Genetic Variation	[49]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Strong	Altered Expression	[50]
PRODH	DEVJIHS	Strong	Genetic Variation	[51]

This Disease Is Related to 119 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGEF9	OTB1FLIW	Limited	Genetic Variation	[52]
ARID1B	OTILK3Q7	Limited	Genetic Variation	[53]
AUTS2	OTAEXHSC	Limited	Genetic Variation	[54]
CHD2	OTRKL6YC	Limited	Genetic Variation	[55]
CMIP	OTZN8Z4A	Limited	Biomarker	[56]
DMXL2	OTB4JWN3	Limited	Genetic Variation	[57]
EBPL	OT59J1GY	Limited	Biomarker	[8]
EEF1A2	OT9Z23K5	Limited	Biomarker	[58]
GABRB3	OT80C3D4	Limited	Genetic Variation	[59]
GPR37	OTIMDDI3	Limited	Genetic Variation	[60]
KCTD13	OTSKZ1KM	Limited	Genetic Variation	[61]
KIRREL3	OTW7PENS	Limited	Biomarker	[62]
MAGEL2	OTXEL4R7	Limited	Biomarker	[63]
NEXMIF	OT576F40	Limited	Biomarker	[64]
PSD	OTUZIXUZ	Limited	Biomarker	[65]
PTCHD1	OTFDLU5S	Limited	Genetic Variation	[66]
STX1A	OTSBUZB4	Limited	Biomarker	[67]
TBR1	OT14JQT8	Limited	Genetic Variation	[68]
TBX1	OTQLBPRA	Limited	Genetic Variation	[69]
SYN1	OTMNPWC1	Disputed	Genetic Variation	[70]
LAMB1	OT6J9LJR	moderate	Genetic Variation	[71]
SLU7	OTZUUICN	moderate	Biomarker	[72]
ABCA13	OTTHTUQN	Strong	Genetic Variation	[73]
ADNP	OTEGICWR	Strong	Genetic Variation	[74]
AFF2	OTMF1PZW	Strong	Genetic Variation	[75]
ALDH1A3	OT1C9NKQ	Strong	Genetic Variation	[76]
AMY1A	OT6G4B8O	Strong	Altered Expression	[77]
ANK3	OTJ3IRBP	Strong	Genetic Variation	[78]
APBA2	OTXD8ID1	Strong	Biomarker	[79]
ARSD	OTAHW9M8	Strong	Genetic Variation	[80]
BST1	OTAV5SE7	Strong	Genetic Variation	[81]
CADPS2	OTV1FW0M	Strong	Genetic Variation	[82]
CALB2	OTSNMCG9	Strong	Biomarker	[83]
CAPS2	OT45M743	Strong	Genetic Variation	[84]
CASK	OT8EF7ZF	Strong	Genetic Variation	[85]
CBLN2	OT29SSBE	Strong	Biomarker	[86]
CC2D1A	OTVPU04K	Strong	Biomarker	[87]
CHD8	OTS7A6AF	Strong	Genetic Variation	[88]
CLN8	OT0D4CB5	Strong	Biomarker	[89]
CNTN4	OTULXVE0	Strong	Biomarker	[90]
CNTNAP2	OT48T2ZP	Strong	Biomarker	[91]
CNTNAP4	OTKXR9AW	Strong	Biomarker	[92]
CTNND2	OTYKE30Y	Strong	Genetic Variation	[93]
CUX2	OTDJTQAJ	Strong	Genetic Variation	[94]
DBI	OT884QY9	Strong	Altered Expression	[95]
ELMOD1	OT0WRVJC	Strong	Biomarker	[96]
ELMOD3	OTLBB4DJ	Strong	Biomarker	[97]
EN2	OT7EZCM2	Strong	Genetic Variation	[98]
FAM120C	OT2DH1SN	Strong	Biomarker	[99]
FGA	OTMIHY80	Strong	Genetic Variation	[100]
FNDC3A	OTUX3S2I	Strong	Genetic Variation	[101]
FOXP2	OTVX6A59	Strong	Biomarker	[79]
GABRA4	OT5I7OI2	Strong	Genetic Variation	[102]
GPHN	OTAKK1SV	Strong	Genetic Variation	[103]
H1-4	OTQ450A3	Strong	Genetic Variation	[104]
HERC2	OTNQYKOB	Strong	Genetic Variation	[105]
HLA-DPA1	OT7OG7Y2	Strong	Genetic Variation	[106]
IL1RAPL1	OTW3T4B2	Strong	Genetic Variation	[107]
IMMP2L	OT9WGAFD	Strong	Biomarker	[108]
JAKMIP1	OTEUYJIG	Strong	Genetic Variation	[109]
JARID2	OT14UM8H	Strong	Genetic Variation	[110]
KIF1A	OT3JVEGV	Strong	Genetic Variation	[111]
KLF12	OTVH4KD4	Strong	Genetic Variation	[112]
LIN7B	OTX1BC5B	Strong	Genetic Variation	[113]
LRFN5	OTK7QZ3B	Strong	Altered Expression	[114]
LRRC4	OT7XJ70N	Strong	Biomarker	[115]
MACROD2	OTNQCHC6	Strong	Genetic Variation	[116]
MBD5	OTFHT4MO	Strong	Biomarker	[117]
MPDZ	OT9WY1QM	Strong	Genetic Variation	[60]
MRTFB	OT9OXGS9	Strong	Genetic Variation	[118]
NAA15	OT53SIZG	Strong	Genetic Variation	[119]
NCOR1	OT04XNOU	Strong	Genetic Variation	[120]
NDUFS1	OTTIZDFR	Strong	Biomarker	[121]
NLGN1	OTGHRRFQ	Strong	Biomarker	[9]
NLGN2	OTHDYL3H	Strong	Biomarker	[122]
NRXN1	OTJN1JQA	Strong	Biomarker	[123]
NRXN2	OTB04QSU	Strong	Biomarker	[124]
NUFIP2	OTZBZ224	Strong	Genetic Variation	[125]
OTX1	OTRGSGH9	Strong	Biomarker	[126]
PAFAH1B1	OT9T2TCJ	Strong	Biomarker	[127]
PCDH19	OTSOW3MV	Strong	Genetic Variation	[128]
PEX7	OTM7VBRC	Strong	Genetic Variation	[129]
PHF21A	OTU3FFG4	Strong	Biomarker	[130]
POGZ	OT4CYWC1	Strong	Biomarker	[131]
PRICKLE1	OT9HHEM9	Strong	Genetic Variation	[132]
PRICKLE2	OTWBA48T	Strong	Genetic Variation	[133]
PTGES3	OTPPQWI0	Strong	Biomarker	[134]
PVALB	OTZW1WVQ	Strong	Altered Expression	[135]
RAB11FIP5	OTNA33DE	Strong	Genetic Variation	[136]
RAB39B	OTDCLLT0	Strong	Genetic Variation	[137]
RBFOX1	OTFPKEL7	Strong	Biomarker	[138]
RBFOX3	OTL0F3D6	Strong	Biomarker	[139]
RERE	OT3G4GBZ	Strong	Genetic Variation	[140]
RHCE	OTS18IZ5	Strong	Genetic Variation	[42]
RIT2	OTSNYG0D	Strong	Biomarker	[141]
RPP25	OTEN6QN7	Strong	Altered Expression	[142]
SEMA5A	OTUOIOJV	Strong	Biomarker	[143]
SEPTIN5	OT6JTJBO	Strong	Biomarker	[144]
SERINC2	OTZ039U0	Strong	Biomarker	[145]
SETD5	OTRPAVEO	Strong	Biomarker	[146]
SH2D6	OTT8DXKS	Strong	Biomarker	[97]
SHANK1	OTK8PV0S	Strong	Genetic Variation	[147]
SHANK2	OTSQTPFQ	Strong	Genetic Variation	[148]
SNCB	OTELSEK6	Strong	Biomarker	[149]
SPAST	OTIF3AJI	Strong	Genetic Variation	[150]
SRRM4	OTALUISN	Strong	Altered Expression	[151]
SYTL4	OT7MX5IK	Strong	Biomarker	[152]
TAOK2	OTNUMOZ1	Strong	Genetic Variation	[153]
TCF20	OT8LQAOV	Strong	Biomarker	[154]
TFB2M	OTG9DUU1	Strong	Genetic Variation	[155]
TMEM185A	OTX1JIEM	Strong	Genetic Variation	[156]
TMEM187	OTOE4G8T	Strong	Genetic Variation	[152]
TRIO	OT71X1AK	Strong	Biomarker	[36]
TSHZ3	OTAN7RY5	Strong	Genetic Variation	[157]
TSNAX	OTZ9SGWB	Strong	Biomarker	[158]
TSPAN12	OTF9I3CX	Strong	Biomarker	[159]
NRXN3	OTJ0I7HJ	Definitive	Genetic Variation	[160]
PPP2R5D	OT43TTX0	Definitive	Genetic Variation	[161]
ST8SIA2	OTRBBBD8	Definitive	Genetic Variation	[162]

References

• [1] Folic acid FDA Label
• [2] Leucovorin FDA Label
• [3] Levoleucovorin FDA Label
• [4] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4165).
• [5] ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.Neuromolecular Med. 2019 Mar;21(1):60-67. doi: 10.1007/s12017-019-08525-x. Epub 2019 Jan 16.
• [6] A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.Heart Rhythm. 2019 Feb;16(2):270-278. doi: 10.1016/j.hrthm.2018.08.030. Epub 2018 Aug 29.
• [7] DRD3 gene and striatum in autism spectrum disorder.Br J Psychiatry. 2015 May;206(5):431-2. doi: 10.1192/bjp.bp.114.148973. Epub 2015 Mar 19.
• [8] Non-speech and speech pitch perception among Cantonese-speaking children with autism spectrum disorder: An ERP study.Neurosci Lett. 2019 Jun 11;703:205-212. doi: 10.1016/j.neulet.2019.03.021. Epub 2019 Mar 16.
• [9] Polymorphisms of Ionotropic Glutamate Receptor-Related Genes and the Risk of Autism Spectrum Disorder in a Chinese Population.Psychiatry Investig. 2019 May;16(5):379-385. doi: 10.30773/pi.2019.02.26.3. Epub 2019 May 23.
• [10] Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population.Sci Rep. 2016 Sep 12;6:33311. doi: 10.1038/srep33311.
• [11] SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache.J Child Neurol. 2013 Mar;28(3):389-91. doi: 10.1177/0883073812443309. Epub 2012 May 1.
• [12] Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13.
• [13] Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population.J Mol Neurosci. 2017 Jun;62(2):262-267. doi: 10.1007/s12031-017-0929-6. Epub 2017 May 24.
• [14] UBE3A-mediated PTPA ubiquitination and degradation regulate PP2A activity and dendritic spine morphology.Proc Natl Acad Sci U S A. 2019 Jun 18;116(25):12500-12505. doi: 10.1073/pnas.1820131116. Epub 2019 Jun 3.
• [15] An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.Nat Commun. 2017 Sep 19;8(1):601. doi: 10.1038/s41467-017-00472-0.
• [16] A phase 2 clinical trial of a vasopressin V1a receptor antagonist shows improved adaptive behaviors in men with autism spectrum disorder.Sci Transl Med. 2019 May 8;11(491):eaat7838. doi: 10.1126/scitranslmed.aat7838. Epub 2019 May 1.
• [17] Gating defects of disease-causing de novo mutations in Ca(v)1.3 Ca(2+) channels.Channels (Austin). 2018;12(1):388-402. doi: 10.1080/19336950.2018.1546518.
• [18] High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.Mol Psychiatry. 2010 Oct;15(10):996-1005. doi: 10.1038/mp.2009.41. Epub 2009 May 19.
• [19] Development of a Highly Potent Analogue and a Long-Acting Analogue of Oxytocin for the Treatment of Social Impairment-Like Behaviors.J Med Chem. 2019 Apr 11;62(7):3297-3310. doi: 10.1021/acs.jmedchem.8b01691. Epub 2019 Apr 2.
• [20] Brief Report: Evaluation of the Short Quantitative Checklist for Autism in Toddlers (Q-CHAT-10) as a Brief Screen for Autism Spectrum Disorder in a High-Risk Sibling Cohort.J Autism Dev Disord. 2019 May;49(5):2210-2218. doi: 10.1007/s10803-019-03897-2.
• [21] Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.Am J Med Genet A. 2015 Apr;167A(4):715-23. doi: 10.1002/ajmg.a.36847. Epub 2015 Feb 5.
• [22] A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation.Epilepsy Behav. 2012 Oct;25(2):192-5. doi: 10.1016/j.yebeh.2012.07.027. Epub 2012 Sep 29.
• [23] The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder.J Clin Med. 2017 Feb 13;6(2):18. doi: 10.3390/jcm6020018.
• [24] A Family-Based Association Study of CYP11A1 and CYP11B1 Gene Polymorphisms With Autism in Chinese Trios.J Child Neurol. 2016 May;31(6):733-7. doi: 10.1177/0883073815620672. Epub 2015 Dec 21.
• [25] Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder.Eur J Neurosci. 2010 Sep;32(6):1058-65. doi: 10.1111/j.1460-9568.2010.07382.x. Epub 2010 Aug 22.
• [26] Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217.
• [27] Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies.Hum Mol Genet. 2014 Dec 15;23(24):6495-511. doi: 10.1093/hmg/ddu369. Epub 2014 Jul 15.
• [28] Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.Autism Res. 2012 Aug;5(4):277-81. doi: 10.1002/aur.1240. Epub 2012 Jun 11.
• [29] Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet. 2015 Jun;168B(4):258-64. doi: 10.1002/ajmg.b.32306. Epub 2015 Apr 29.
• [30] The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5;147B(2):194-200. doi: 10.1002/ajmg.b.30584.
• [31] Serotonin 2A receptor gene (HTR2A) regulatory variants: possible association with severity of depression symptoms in children with autism spectrum disorder.Cogn Behav Neurol. 2014 Jun;27(2):107-16. doi: 10.1097/WNN.0000000000000028.
• [32] Risperidone-induced weight gain in referred children with autism spectrum disorders is associated with a common polymorphism in the 5-hydroxytryptamine 2C receptor gene.J Child Adolesc Psychopharmacol. 2010 Dec;20(6):473-7. doi: 10.1089/cap.2009.0071.
• [33] Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1049-1056. doi: 10.1002/ajmg.b.32473. Epub 2016 Jul 6.
• [34] Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder.Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5;133B(1):93-6. doi: 10.1002/ajmg.b.30122.
• [35] A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD).Am J Med Genet A. 2008 Feb 15;146A(4):505-11. doi: 10.1002/ajmg.a.32142.
• [36] Incorporating Functional Information in Tests of Excess De Novo Mutational Load. Am J Hum Genet. 2015 Aug 6;97(2):272-83. doi: 10.1016/j.ajhg.2015.06.013. Epub 2015 Jul 30.
• [37] From aggression to autism: new perspectives on the behavioral sequelae of monoamine oxidase deficiency.J Neural Transm (Vienna). 2018 Nov;125(11):1589-1599. doi: 10.1007/s00702-018-1888-y. Epub 2018 May 10.
• [38] Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function.PLoS One. 2019 Feb 21;14(2):e0212553. doi: 10.1371/journal.pone.0212553. eCollection 2019.
• [39] Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism.Transl Psychiatry. 2019 Jan 31;9(1):50. doi: 10.1038/s41398-018-0335-z.
• [40] Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice.Nat Commun. 2018 Oct 16;9(1):4289. doi: 10.1038/s41467-018-06584-5.
• [41] The rs251684 Variant of PLA2G4C Is Associated with Autism Spectrum Disorder in the Northeast Han Chinese Population.Genet Test Mol Biomarkers. 2016 Dec;20(12):747-752. doi: 10.1089/gtmb.2016.0195. Epub 2016 Sep 9.
• [42] The genetic basis of hair whorl, handedness, and other phenotypes.Med Hypotheses. 2006;66(4):708-14. doi: 10.1016/j.mehy.2005.10.010. Epub 2005 Dec 5.
• [43] Clinical and genetic spectrum of SCN2A-associated episodic ataxia.Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7.
• [44] Glutamate transporter gene (SLC1A1) single nucleotide polymorphism (rs301430) and repetitive behaviors and anxiety in children with autism spectrum disorder.J Autism Dev Disord. 2010 Sep;40(9):1139-45. doi: 10.1007/s10803-010-0961-7.
• [45] Language Regression in an Atypical SLC6A1 Mutation.Semin Pediatr Neurol. 2018 Jul;26:25-27. doi: 10.1016/j.spen.2018.04.001.
• [46] De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.Sci Rep. 2017 Jun 6;7(1):2887. doi: 10.1038/s41598-017-02792-z.
• [47] Gender influences monoallelic expression of ATP10A in human brain.Hum Genet. 2008 Oct;124(3):235-42. doi: 10.1007/s00439-008-0546-0. Epub 2008 Aug 23.
• [48] Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis. Mol Neurobiol. 2016 Apr;53(3):1579-1588.
• [49] Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12.
• [50] Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.Hum Mol Genet. 2016 Feb 15;25(4):693-705. doi: 10.1093/hmg/ddv507. Epub 2015 Dec 18.
• [51] Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.Psychiatr Genet. 2014 Dec;24(6):269-72. doi: 10.1097/YPG.0000000000000062.
• [52] Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.Eur J Med Genet. 2019 Apr;62(4):239-242. doi: 10.1016/j.ejmg.2018.07.021. Epub 2018 Jul 23.
• [53] The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior.Prog Neuropsychopharmacol Biol Psychiatry. 2019 Mar 8;89:30-38. doi: 10.1016/j.pnpbp.2018.08.021. Epub 2018 Aug 24.
• [54] Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene.Stem Cell Res. 2019 Oct;40:101557. doi: 10.1016/j.scr.2019.101557. Epub 2019 Aug 31.
• [55] Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.Clin Genet. 2017 Dec;92(6):669-670. doi: 10.1111/cge.13073. Epub 2017 Sep 28.
• [56] CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.Am J Med Genet A. 2017 Aug;173(8):2101-2107. doi: 10.1002/ajmg.a.38277. Epub 2017 May 15.
• [57] Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.J Neurodev Disord. 2019 Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3.
• [58] Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.Brain Dev. 2020 Jan;42(1):77-82. doi: 10.1016/j.braindev.2019.08.001. Epub 2019 Aug 30.
• [59] Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder.J Mol Neurosci. 2018 Aug;65(4):432-437. doi: 10.1007/s12031-018-1114-2. Epub 2018 Jul 18.
• [60] CASPR2 forms a complex with GPR37 via MUPP1 but not with GPR37(R558Q), an autism spectrum disorder-related mutation.J Neurochem. 2015 Aug;134(4):783-93. doi: 10.1111/jnc.13168. Epub 2015 Jun 3.
• [61] CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells.Mol Neurobiol. 2020 Feb;57(2):616-634. doi: 10.1007/s12035-019-01727-1. Epub 2019 Aug 11.
• [62] Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.PLoS One. 2015 Apr 22;10(4):e0123106. doi: 10.1371/journal.pone.0123106. eCollection 2015.
• [63] Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.J Med Genet. 2018 May;55(5):307-315. doi: 10.1136/jmedgenet-2017-105024. Epub 2018 Mar 1.
• [64] Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1.
• [65] Postsynaptic density proteins and their involvement in neurodevelopmental disorders.J Biochem. 2018 Jun 1;163(6):447-455. doi: 10.1093/jb/mvy022.
• [66] Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14.
• [67] A part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experimentally gene ablated mice.Neurosci Lett. 2017 Mar 22;644:5-9. doi: 10.1016/j.neulet.2017.02.052. Epub 2017 Feb 22.
• [68] A TBR1-K228E Mutation Induces Tbr1 Upregulation, Altered Cortical Distribution of Interneurons, Increased Inhibitory Synaptic Transmission, and Autistic-Like Behavioral Deficits in Mice.Front Mol Neurosci. 2019 Oct 9;12:241. doi: 10.3389/fnmol.2019.00241. eCollection 2019.
• [69] Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.Hum Mol Genet. 2011 Dec 15;20(24):4775-85. doi: 10.1093/hmg/ddr404. Epub 2011 Sep 9.
• [70] X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.Epilepsia. 2015 Jul;56(7):1098-108. doi: 10.1111/epi.13042. Epub 2015 Jun 19.
• [71] LAMB1 polymorphism is associated with autism symptom severity in Korean autism spectrum disorder patients.Nord J Psychiatry. 2015;69(8):594-8. doi: 10.3109/08039488.2015.1022597. Epub 2015 Mar 16.
• [72] Essential role of the nuclear isoform of RBFOX1, a candidate gene for autism spectrum disorders, in the brain development.Sci Rep. 2016 Aug 2;6:30805. doi: 10.1038/srep30805.
• [73] The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion.Int J Dev Neurosci. 2018 Dec;71:130-139. doi: 10.1016/j.ijdevneu.2018.09.002. Epub 2018 Sep 7.
• [74] Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15.
• [75] Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.Hum Mol Genet. 2012 Oct 1;21(19):4356-64. doi: 10.1093/hmg/dds267. Epub 2012 Jul 5.
• [76] A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25.
• [77] Salivary -amylase as a marker of stress reduction in individuals with intellectual disability and autism in response to occupational and music therapy.J Intellect Disabil Res. 2018 Feb;62(2):156-163. doi: 10.1111/jir.12453. Epub 2017 Nov 21.
• [78] First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.Eur J Med Genet. 2017 Sep;60(9):494-498. doi: 10.1016/j.ejmg.2017.07.001. Epub 2017 Jul 4.
• [79] Altered social behavior in mice carrying a cortical Foxp2 deletion.Hum Mol Genet. 2019 Mar 1;28(5):701-717. doi: 10.1093/hmg/ddy372.
• [80] "If He Has it, We Know What to Do": Parent Perspectives on Familial Risk for Autism Spectrum Disorder.J Pediatr Psychol. 2020 Mar 1;45(2):121-130. doi: 10.1093/jpepsy/jsz076.
• [81] An immunohistochemical, enzymatic, and behavioral study of CD157/BST-1 as a neuroregulator.BMC Neurosci. 2017 Mar 24;18(1):35. doi: 10.1186/s12868-017-0350-7.
• [82] 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.Epilepsy Res. 2019 Dec;158:106223. doi: 10.1016/j.eplepsyres.2019.106223. Epub 2019 Nov 1.
• [83] Calretinin interneuron density in the caudate nucleus is lower in autism spectrum disorder.Brain. 2017 Jul 1;140(7):2028-2040. doi: 10.1093/brain/awx131.
• [84] Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants.Int J Environ Res Public Health. 2013 Nov 27;10(12):6335-53. doi: 10.3390/ijerph10126335.
• [85] Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.PLoS One. 2014 Feb 5;9(2):e88276. doi: 10.1371/journal.pone.0088276. eCollection 2014.
• [86] Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.Transl Psychiatry. 2012 Sep 4;2(9):e158. doi: 10.1038/tp.2012.75.
• [87] Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability.Biol Psychiatry. 2019 May 1;85(9):760-768. doi: 10.1016/j.biopsych.2018.12.013. Epub 2018 Dec 27.
• [88] Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.Clin Epigenetics. 2019 Jul 16;11(1):103. doi: 10.1186/s13148-019-0684-3.
• [89] Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.PLoS One. 2015 Dec 14;10(12):e0144624. doi: 10.1371/journal.pone.0144624. eCollection 2015.
• [90] Disruption of contactin 4 in three subjects with autism spectrum disorder.J Med Genet. 2009 Mar;46(3):176-82. doi: 10.1136/jmg.2008.057505. Epub 2008 Mar 18.
• [91] Modelling monogenic autism spectrum disorder using mouse cortical organoids.Biochem Biophys Res Commun. 2020 Jan 1;521(1):164-171. doi: 10.1016/j.bbrc.2019.10.097. Epub 2019 Oct 23.
• [92] Neurexin Superfamily Cell Membrane Receptor Contactin-Associated Protein Like-4 (Cntnap4) Is Involved in Neural EGFL-Like 1 (Nell-1)-Responsive Osteogenesis.J Bone Miner Res. 2018 Oct;33(10):1813-1825. doi: 10.1002/jbmr.3524. Epub 2018 Jun 29.
• [93] The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.
• [94] A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.Eur J Hum Genet. 2018 Sep;26(9):1388-1391. doi: 10.1038/s41431-018-0184-5. Epub 2018 May 24.
• [95] Phenotypic subgrouping and multi-omics analyses reveal reduced diazepam-binding inhibitor (DBI) protein levels in autism spectrum disorder with severe language impairment.PLoS One. 2019 Mar 28;14(3):e0214198. doi: 10.1371/journal.pone.0214198. eCollection 2019.
• [96] ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder.J Mol Neurosci. 2019 Oct;69(2):312-315. doi: 10.1007/s12031-019-01359-z. Epub 2019 Jul 20.
• [97] ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.J Cell Mol Med. 2020 Jan;24(2):2064-2069. doi: 10.1111/jcmm.14733. Epub 2019 Dec 4.
• [98] Whole-exome sequencing identifies a novel heterozygous missense variant of the EN2 gene in two unrelated patients with autism spectrum disorder.Psychiatr Genet. 2016 Dec;26(6):297-301. doi: 10.1097/YPG.0000000000000153.
• [99] A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.Am J Med Genet A. 2014 Dec;164A(12):3035-41. doi: 10.1002/ajmg.a.36752. Epub 2014 Sep 24.
• [100] Association of the FGA and SLC6A4 genes with autistic spectrum disorder in a Korean population.Neuropsychobiology. 2013;68(4):212-20. doi: 10.1159/000355299. Epub 2013 Nov 1.
• [101] Associations between single-nucleotide polymorphism in the FNDC3A and autism spectrum disorder in a Korean population.Psychiatry Res. 2013 Sep 30;209(2):246-8. doi: 10.1016/j.psychres.2013.02.028. Epub 2013 Apr 29.
• [102] Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.Neurogenetics. 2018 Jan;19(1):17-26. doi: 10.1007/s10048-017-0529-1. Epub 2017 Nov 18.
• [103] Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.Neurobiol Dis. 2014 Jul;67:88-96. doi: 10.1016/j.nbd.2014.02.001. Epub 2014 Feb 19.
• [104] Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):426-433. doi: 10.1002/ajmg.b.32631. Epub 2018 Apr 27.
• [105] A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat. 2012 Dec;33(12):1639-46. doi: 10.1002/humu.22237.
• [106] HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study.Autism Res. 2020 Feb;13(2):182-186. doi: 10.1002/aur.2217. Epub 2019 Oct 8.
• [107] Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9.
• [108] First behavioural assessment of a novel Immp2l knockdown mouse model with relevance for Gilles de la Tourette syndrome and Autism spectrum disorder.Behav Brain Res. 2019 Nov 18;374:112057. doi: 10.1016/j.bbr.2019.112057. Epub 2019 Jun 21.
• [109] Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z.
• [110] A study of single nucleotide polymorphisms in CD157, AIM2 and JARID2 genes in Han Chinese children with autism spectrum disorder.Nord J Psychiatry. 2018 Apr;72(3):179-183. doi: 10.1080/08039488.2017.1410570. Epub 2017 Dec 7.
• [111] A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.J Peripher Nerv Syst. 2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11.
• [112] ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.Eur J Med Genet. 2018 Jul;61(7):376-383. doi: 10.1016/j.ejmg.2018.02.002. Epub 2018 Feb 7.
• [113] Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.J Neurochem. 2015 Jan;132(1):61-9. doi: 10.1111/jnc.12943. Epub 2014 Sep 26.
• [114] Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.Eur J Hum Genet. 2019 Sep;27(9):1475-1480. doi: 10.1038/s41431-019-0430-5. Epub 2019 May 31.
• [115] Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. Neurogenetics. 2019 Oct;20(4):209-213. doi: 10.1007/s10048-019-00583-4. Epub 2019 Aug 2.
• [116] No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet. 2011 Sep;156B(6):633-9. doi: 10.1002/ajmg.b.31201. Epub 2011 Jun 8.
• [117] Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1.
• [118] Synaptic localisation of SRF coactivators, MKL1 and MKL2, and their role in dendritic spine morphology.Sci Rep. 2018 Jan 15;8(1):727. doi: 10.1038/s41598-017-18905-7.
• [119] Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.
• [120] Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis.Am J Med Genet A. 2018 Nov;176(11):2466-2469. doi: 10.1002/ajmg.a.40354. Epub 2018 Oct 5.
• [121] Expression analyses of the mitochondrial complex I 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: increased levels as a potential biomarker for early onset schizophrenia.Eur Child Adolesc Psychiatry. 2010 May;19(5):441-8. doi: 10.1007/s00787-009-0074-z. Epub 2009 Nov 6.
• [122] 790Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.Eur J Med Genet. 2012 Mar;55(3):222-4. doi: 10.1016/j.ejmg.2012.01.016. Epub 2012 Feb 6.
• [123] NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18.
• [124] Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.Gene. 2015 Nov 1;572(1):130-134. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8.
• [125] Pharmacological Rescue of Hippocampal Fear Learning Deficits in Fragile X Syndrome.Mol Neurobiol. 2018 Jul;55(7):5951-5961. doi: 10.1007/s12035-017-0819-5. Epub 2017 Nov 11.
• [126] 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.Eur J Hum Genet. 2011 Dec;19(12):1264-70. doi: 10.1038/ejhg.2011.112. Epub 2011 Jul 13.
• [127] Lis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviour.EMBO Mol Med. 2013 Apr;5(4):591-607. doi: 10.1002/emmm.201202106. Epub 2013 Mar 11.
• [128] Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.Epilepsy Behav. 2016 Jul;60:75-80. doi: 10.1016/j.yebeh.2016.04.009. Epub 2016 May 12.
• [129] Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.J Child Neurol. 2012 Oct;27(10):1270-5. doi: 10.1177/0883073811435507. Epub 2012 Feb 28.
• [130] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.
• [131] A novel de novo POGZ mutation in a patient with intellectual disability.J Hum Genet. 2016 Apr;61(4):357-9. doi: 10.1038/jhg.2015.156. Epub 2016 Jan 14.
• [132] A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.J Neurogenet. 2018 Dec;32(4):313-315. doi: 10.1080/01677063.2018.1473862. Epub 2018 May 23.
• [133] Vangl2 interaction plays a role in the proteasomal degradation of Prickle2.Sci Rep. 2019 Feb 27;9(1):2912. doi: 10.1038/s41598-019-39642-z.
• [134] Altered mRNA Levels of Glucocorticoid Receptor, Mineralocorticoid Receptor, and Co-Chaperones (FKBP5 and PTGES3) in the Middle Frontal Gyrus of Autism Spectrum Disorder Subjects.Mol Neurobiol. 2016 May;53(4):2090-9. doi: 10.1007/s12035-015-9178-2. Epub 2015 Apr 26.
• [135] Inducible and reversible silencing of the Pvalb gene in mice: An in vitro and in vivo study.Eur J Neurosci. 2019 Aug;50(4):2694-2706. doi: 10.1111/ejn.14404. Epub 2019 Jun 17.
• [136] A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):411-7. doi: 10.1002/ajmg.b.30755.
• [137] The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.Nat Commun. 2015 Mar 18;6:6504. doi: 10.1038/ncomms7504.
• [138] RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior.Eur Neuropsychopharmacol. 2020 Jan;30:44-55. doi: 10.1016/j.euroneuro.2017.11.012. Epub 2017 Nov 23.
• [139] Neuronal Splicing Regulator RBFOX3 (NeuN) Regulates Adult Hippocampal Neurogenesis and Synaptogenesis.PLoS One. 2016 Oct 4;11(10):e0164164. doi: 10.1371/journal.pone.0164164. eCollection 2016.
• [140] De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.
• [141] Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder.Metab Brain Dis. 2017 Jun;32(3):751-755. doi: 10.1007/s11011-017-9969-4. Epub 2017 Feb 11.
• [142] RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder.Autism Res. 2010 Aug;3(4):153-61. doi: 10.1002/aur.141.
• [143] A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23.
• [144] Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations.Int J Neuropsychopharmacol. 2019 Aug 1;22(8):488-500. doi: 10.1093/ijnp/pyz026.
• [145] Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.Sci Rep. 2017 Sep 21;7(1):12096. doi: 10.1038/s41598-017-12317-3.
• [146] Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.Nat Neurosci. 2018 Dec;21(12):1717-1727. doi: 10.1038/s41593-018-0266-2. Epub 2018 Nov 19.
• [147] SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age.Autism Res. 2019 Mar;12(3):375-383. doi: 10.1002/aur.2065. Epub 2019 Jan 10.
• [148] SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.Nat Neurosci. 2019 Apr;22(4):556-564. doi: 10.1038/s41593-019-0365-8. Epub 2019 Mar 25.
• [149] Significant Changes in Plasma Alpha-Synuclein and Beta-Synuclein Levels in Male Children with Autism Spectrum Disorder.Biomed Res Int. 2018 Apr 8;2018:4503871. doi: 10.1155/2018/4503871. eCollection 2018.
• [150] A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1.
• [151] A highly conserved program of neuronal microexons is misregulated in autistic brains.Cell. 2014 Dec 18;159(7):1511-23. doi: 10.1016/j.cell.2014.11.035.
• [152] High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies.Int J Mol Sci. 2019 Jul 9;20(13):3358. doi: 10.3390/ijms20133358.
• [153] Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex.Nat Neurosci. 2012 Jun 10;15(7):1022-31. doi: 10.1038/nn.3141.
• [154] De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16.
• [155] Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder.Biochem Biophys Res Commun. 2018 Dec 9;507(1-4):148-154. doi: 10.1016/j.bbrc.2018.10.194. Epub 2018 Nov 7.
• [156] Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders.Am J Med Genet. 1996 Aug 9;64(2):399-403. doi: 10.1002/(SICI)1096-8628(19960809)64:2<399::AID-AJMG33>3.0.CO;2-8.
• [157] Postnatal Tshz3 Deletion Drives Altered Corticostriatal Function and Autism Spectrum Disorder-like Behavior.Biol Psychiatry. 2019 Aug 15;86(4):274-285. doi: 10.1016/j.biopsych.2019.03.974. Epub 2019 Mar 28.
• [158] A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder.Am J Med Genet A. 2009 Aug;149A(8):1758-62. doi: 10.1002/ajmg.a.32941.
• [159] Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.Am J Med Genet A. 2011 Jul;155A(7):1568-73. doi: 10.1002/ajmg.a.34028. Epub 2011 May 27.
• [160] Rare deletions at the neurexin 3 locus in autism spectrum disorder. Am J Hum Genet. 2012 Jan 13;90(1):133-41. doi: 10.1016/j.ajhg.2011.11.025. Epub 2011 Dec 29.
• [161] De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1):43-9. doi: 10.1007/s10048-015-0466-9. Epub 2015 Nov 17.
• [162] Effects of intronic single nucleotide polymorphisms (iSNPs) of a polysialyltransferase, ST8SIA2 gene found in psychiatric disorders on its gene products.Biochem Biophys Res Commun. 2016 Sep 23;478(3):1123-9. doi: 10.1016/j.bbrc.2016.08.079. Epub 2016 Aug 24.