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Last Posted: Jun 20, 2024

• Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder.
  Caitlin N Harrington et al. J Autism Dev Disord 2024
• Autism spectrum disorders detection based on multi-task transformer neural network.
  Le Gao et al. BMC Neurosci 2024 25(1) 27
• Clinical phenotypes of adults with monogenic and syndromic genetic obesity.
  Mila S Welling et al. Obesity (Silver Spring) 2024
• The Importance of Nutrigenetics and Microbiota in Personalized Medicine: From Phenotype to Genotype.
  Gulsen Meral et al. Cureus 2024 16(5) e61256
• Attitudes of autistic adults toward genetic testing for autism.
  Tielle Gallion et al. J Genet Couns 2024
• Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism.
  Amy M Daniels et al. J Clin Transl Sci 2024 8(1) e64
• Examining Sex Differences in Autism Heritability.
  Sven Sandin et al. JAMA Psychiatry 2024
• Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.
  Julia Wynn et al. J Autism Dev Disord 2024
• Susceptibility to Treatment-Resistant Depression Within Families.
  Chih-Ming Cheng et al. JAMA Psychiatry 2024
• Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
  M Viggiano et al, NPJ Genomic Medicine, March 22, 2024
• Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.
  Charlotte E Butter et al. BMC Psychol 2024 12(1) 137
• De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.
  Hoa Thi Phuong Bui et al. PLoS One 2024 19(3) e0290936
• What do parents of nonverbal and minimally verbal autistic children think about genomic autism research?
  Kathryn Asbury et al. Autism 2024 13623613231213431
• Enhancing ASD detection accuracy: a combined approach of machine learning and deep learning models with natural language processing.
  Sergio Rubio-Martín et al. Health Inf Sci Syst 2024 12(1) 20
• SPARKing New Insight Into Autism Across the Lifespan.
  Khemika K Sudnawa et al. Am J Intellect Dev Disabil 2024 129(2) 91-95
• Parental Perspectives on Early Life Screening and Genetic Testing for ASD: A Systematic Review.
  Katerina Dounavi et al. J Autism Dev Disord 2024
• Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis.
  Amy Wang et al. PLoS One 2024 19(2) e0296942
• Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.
  Robert Klitzman et al. J Autism Dev Disord 2023
• Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II.
  Mirthe J Klein Haneveld et al. Genet Med 2024 101071
• Autism Spectrum Disorder Detection by Hybrid Convolutional Recurrent Neural Networks from Structural and Resting State Functional MRI Images.
  Emel Koc et al. Autism Res Treat 2023 20234136087
• An Umbrella Review of the Fusion of fMRI and AI in Autism.
  Daniele Giansanti et al. Diagnostics (Basel) 2023 13(23)
• Development of a Novel Telemedicine Tool to Reduce Disparities Related to the Identification of Preschool Children with Autism.
  Liliana Wagner et al. J Autism Dev Disord 2023
• Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
  Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384
• Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
  Elena Bacchelli et al. Res Sq 2023
• Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.
  Apurba Shil et al. Sci Rep 2023 13(1) 18853
• Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.
  Nicolas J Abreu et al. Pediatr Neurol 2023 15017-23
• Postpartum and non-postpartum depression: a population-based matched case-control study comparing polygenic risk scores for severe mental disorders.
  Trine Munk-Olsen et al. Transl Psychiatry 2023 13(1) 346
• [Differential diagnosis of autism spectrum disorder and global developmental delay based on machine learning and Children Neuropsychological and Behavioral Scale].
  Gang Zhou et al. Zhongguo Dang Dai Er Ke Za Zhi 2023 25(10) 1028-1033
• Genetic counseling clinic model expansion: Impact on access for general genetics clinic.
  Rachel Doberstein et al. J Genet Couns 2023
• Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
  Drayton C Harvey et al. Front Cardiovasc Med 2023 101249605
• Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.
  Robert Klitzman et al. J Community Genet 2023
• Digital phenotyping could help detect autism.
  Catherine Lord et al. Nat Med 2023 10
• Scientists discover how dozens of genes may contribute to autism
  M Johnson, The Washington Post, October 5, 2023
• Review of pharmacogenomics of psychiatric comorbidities in autism spectrum disorder.
  Aida Alvarez et al. Pharmacogenomics 2023
• Early detection of autism using digital behavioral phenotyping
  S Perochon et al, Nature Medicine, October 2, 2023
• Toward an autism-friendly environment based on mobile apps user feedback analysis using deep learning and machine learning models.
  Mariem Haoues et al. PeerJ Comput Sci 2023 9e1442
• Metabolomics: Perspectives on Clinical Employment in Autism Spectrum Disorder.
  Martina Siracusano et al. Int J Mol Sci 2023 24(17)
• Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
  E Bluvas, Medical Xpress, August 2023
• Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
  Chelsea Lowther et al. Am J Hum Genet 2023
• Study proposes use of artificial intelligence to diagnose autism spectrum disorder
  R Muniz, Medical XPress, August 2023
• Ethical challenges in autism genomics: Recommendations for researchers.
  Heini M Natri et al. Eur J Med Genet 2023 66(9) 104810
• Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin.
  Jeanne Wolstencroft et al. JCPP Adv 2023 3(1) e12128
• Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins.
  Johan Isaksson et al. JAMA Netw Open 2023 6 (6) e2321165
• Phenotypic effects of genetic variants associated with autism.
  Thomas Rolland et al. Nat Med 2023 6
• Contemplating syndromic autism
  JA Vortsmann et al, Genetics in Medicine, June 15, 2023
• General v. specific vulnerabilities: polygenic risk scores and higher-order psychopathology dimensions in the Adolescent Brain Cognitive Development (ABCD) Study.
  Monika A Waszczuk et al. Psychol Med 2023 53(5) 1937-1946
• Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review.
  Meng Zhou et al. World J Psychiatry 2023 13(5) 247-261
• Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
  Jean-Marie Ravel et al. Genome Med 2023 15(1) 39
• Prosodic signatures of ASD severity and developmental delay in preschoolers.
  Michel Godel et al. NPJ Digit Med 2023 5 (1) 99
• Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.
  Nicholas Donnelly et al. Mol Autism 2023 14(1) 19
• How one man's rare Alzheimer’s mutation delayed the onset of disease Genetic resilience found in a person predisposed to early-onset dementia could potentially lead to new treatments.
  S Reardon, Nature, May 16, 2023
• Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
  Pritesh Jain et al. Transl Psychiatry 2023 13(1) 69
• Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
  Ana Karen Sandoval-Talamantes et al. Genes (Basel) 2023 14(4)
• Epigenetic changes in sperm are associated with paternal and child quantitative autistic traits in an autism-enriched cohort.
  Jason I Feinberg et al. Mol Psychiatry 2023
• Interactions between the lipidome and genetic and environmental factors in autism.
  Chloe X Yap et al. Nat Med (4) 936-949
• What is Autism Spectrum Disorder?
  CDC, 2023
• Development and validation of a machine learning-based tool to predict autism among children.
  Kim Steven Betts et al. Autism research : official journal of the International Society for Autism Research 2023
• Co-occurring conditions in children with Down syndrome and autism: a retrospective study.
  Noemi A Spinazzi et al. Journal of neurodevelopmental disorders 2023 15(1) 9
• All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing.
  Clare van Eyk et al. JAMA pediatrics 2023 3
• Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
  Pedro J Gonzalez-Mantilla et al. JAMA pediatrics 2023
• Machine learning determination of applied behavioral analysis treatment plan type.
  Jenish Maharjan et al. Brain informatics 2023 10(1) 7
• Association between RIT2 rs16976358 Polymorphism and Autism Spectrum Disorder in Asian Populations: A Meta-analysis.
  Jing Wang et al. BioMed research international 2023 20238886927
• Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
  Melissa T Carter et al. Journal of medical genetics 2023
• Digitally assisted diagnostics of autism spectrum disorder.
  Jana Christina Koehler et al. Frontiers in psychiatry 2023 141066284
• BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
  Trine Tangeraas et al. Brain : a journal of neurology 2023
• Cohort-guided insights into gene-environment interactions in autism spectrum disorders.
  W Ian Lipkin et al. Nature reviews. Neurology 2023 1 1-8
• Exploring telediagnostic procedures in child neuropsychiatry: addressing ADHD diagnosis and autism symptoms through supervised machine learning.
  Silvia Grazioli et al. European child & adolescent psychiatry 2023 1-11
• Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
  Sarah U Morton et al. JAMA network open 2023 6(1) e2253191
• RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
  Tomaiuolo Pasquale et al. Scientific reports 2023 13(1) 807
• Exploring Autistic adults' perspectives on genetic testing for autism.
  Byres Loryn et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 1 100021
• A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
  Denommé-Pichon Anne-Sophie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100018
• Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: a systematic review.
  Cortese Samuele et al. World psychiatry : official journal of the World Psychiatric Association (WPA) 2023 22(1) 129-149
• Family coaggregation of type 1 diabetes mellitus, major depressive disorder, attention-deficiency hyperactivity disorder and autism spectrum disorder in affected families: a nationwide study.
  Hsu Tien-Wei et al. Acta diabetologica 2023
• Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.
  Busch Robyn M et al. Journal of neurodevelopmental disorders 2023 15(1) 3
• New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications.
  Andreassen Ole A et al. World psychiatry : official journal of the World Psychiatric Association (WPA) 2023 22(1) 4-24
• Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant.
  Schneeweiss Michelle Robyn et al. BMJ case reports 2023 15(12)
• The Utility of Natural Language Samples for Assessing Communication and Language in Infants Referred with Early Signs of Autism.
  Hudry Kristelle et al. Research on child and adolescent psychopathology 2023
• Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.
  Pollak Rebecca M et al. Molecular autism 2022 13(1) 50
• Machine learning approaches for electroencephalography and magnetoencephalography analyses in autism spectrum disorder: A systematic review.
  Das Sushmit et al. Progress in neuro-psychopharmacology & biological psychiatry 2022 110705
• Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
  Tolezano Giovanna Cantini et al. Journal of autism and developmental disorders 2022
• Hybrid Diagnosis Models for Autism Patients Based on Medical and Sociodemographic Features Using Machine Learning and Multicriteria Decision-Making (MCDM) Techniques: An Evaluation and Benchmarking Framework.
  Alqaysi M E et al. Computational and mathematical methods in medicine 2022 20229410222
• A comprehensive list of human microdeletion and microduplication syndromes.
  Wetzel Alyssa S et al. BMC genomic data 2022 23(1) 82
• Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder.
  Kainer David et al. HGG advances 2022 4(1) 100150
• [Clinical practice guidelines for Fragile X syndrome].
  Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 39(11) 1181-1186
• Ribosomal DNA Abundance in the Patient’s Genome as a Feasible Marker in Differential Diagnostics of Autism and Childhood-Onset Schizophrenia
  ES Ershova et al, J Per Med, October 31, 2022
• Rare and common autism risk variants converge across 16p.
  Won Hyejung et al. Nature genetics 2022 10
• Metabolomic Signatures of Autism Spectrum Disorder
  D Brister et al, J Per Med, October 17, 2022
• A machine learning-based diagnostic model for children with autism spectrum disorders complicated with intellectual disability.
  Song Chao et al. Frontiers in psychiatry 2022 13993077
• Ethics of digital therapeutics (DTx).
  Refolo P et al. European review for medical and pharmacological sciences 2022 26(18) 6418-6423
• Genome-wide methylation analysis of post-mortem cerebellum samples supports the role of peroxisomes in autism spectrum disorder.
  Anne Anuhya et al. Epigenomics 2022
• Autism and ADHD in the Era of Big Data; An Overview of Digital Resources for Patient, Genetic and Clinical Trials Information.
  Abomelha Faris M et al. Genes 2022 13(9)
• Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups.
  Mattheisen Manuel et al. Nature genetics 2022
• Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
  Krepischi Ana C V et al. Scientific reports 2022 12(1) 15184
• [Genetic testing in autism spectrum disorder].
  Jensen Janni Majgaard et al. Ugeskrift for laeger 2022 184(34)
• Developmental implications of genetic testing for physical indications.
  Baribeau Danielle A et al. European journal of human genetics : EJHG 2022
• Machine learning models using mobile game play accurately classify children with autism.
  Deveau Nicholas et al. Intelligence-based medicine 2022 100057
• Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
  Dy Angel Belle C et al. Journal of autism and developmental disorders 2022
• Diverse mutations in autism-related genes and their expression in the developing brain
  Nature Genetics, August 18, 2022
• Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
  X Zhou et al, Nature Genetics, August 18, 2022
• Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
  JM Fu et al, Nature Genetics, August 18, 2022
• Stratifying the autistic phenotype using electrophysiological indices of social perception
  L Mason et al, Sci Trans Med, August 17, 2022
• Uncovering Brain Differences in Preschoolers and Young Adolescents with Autism Spectrum Disorder Using Deep Learning.
  Li Shijun et al. International journal of neural systems 2022 2250044
• Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.
  Rajagopal Veera M et al. Nature genetics 2022
• Use of Oculomotor Behavior to Classify Children with Autism and Typical Development: A Novel Implementation of the Machine Learning Approach.
  Zhao Zhong et al. Journal of autism and developmental disorders 2022
• MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders.
  Wong Anthony et al. Genes 2022 13(8)
• Machine learning-based ABA treatment recommendation and personalization for autism spectrum disorder: an exploratory study.
  Kohli Manu et al. Brain informatics 2022 9(1) 16
• Feasibility and Impact of Integrating an Artificial Intelligence-Based Diagnosis Aid for Autism Into the Extension for Community Health Outcomes Autism Primary Care Model: Protocol for a Prospective Observational Study.
  Sohl Kristin et al. JMIR research protocols 2022 11(7) e37576
• Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
  Aarabi Mahmoud et al. Psychiatric genetics 2022
• Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis
  SS Kuo et al, JAMA Pediatrics, July 18, 2022
• Diagnosis-Based Hybridization of Multimedical Tests and Sociodemographic Characteristics of Autism Spectrum Disorder Using Artificial Intelligence and Machine Learning Techniques: A Systematic Review.
  Alqaysi M E et al. International journal of telemedicine and applications 2022 20223551528
• A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders.
  Shillington Amelle et al. Frontiers in genetics 2022 13901458
• Associations of a family history of lupus with the risks of lupus and major psychiatric disorders in first-degree relatives.
  Lin Po-Chun et al. QJM : monthly journal of the Association of Physicians 2022
• Using machine learning to improve diagnostic assessment of ASD in the light of specific differential and co-occurring diagnoses.
  Schulte-Rüther Martin et al. Journal of child psychology and psychiatry, and allied disciplines 2022
• Advancing artificial intelligence-assisted pre-screening for fragile X syndrome.
  Movaghar Arezoo et al. BMC medical informatics and decision making 2022 22(1) 152
• An AI-Enabled Internet of Things Based Autism Care System for Improving Cognitive Ability of Children with Autism Spectrum Disorders.
  Abdel Hameed Mohamed et al. Computational intelligence and neuroscience 2022 20222247675
• Contrastive machine learning reveals the structure of neuroanatomical variation within autism.
  Aglinskas Aidas et al. Science (New York, N.Y.) 2022 376(6597) 1070-1074
• A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
  Antaki Danny et al. Nature genetics 2022
• Crowd annotations can approximate clinical autism impressions from short home videos with privacy protections.
  Washington Peter et al. Intelligence-based medicine 2022 6
• Genetic correlates of phenotypic heterogeneity in autism.
  Warrier Varun et al. Nature genetics 2022
• Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
  ER Riggs et al, Genetics in Medicine, May 26, 2022
• Detecting autism from picture book narratives using deep neural utterance embeddings.
  Wawer Aleksander et al. International journal of language & communication disorders 2022
• FECTS: A Facial Emotion Cognition and Training System for Chinese Children with Autism Spectrum Disorder.
  Wan Guobin et al. Computational intelligence and neuroscience 2022 20229213526
• Evaluation of an artificial intelligence-based medical device for diagnosis of autism spectrum disorder.
  Megerian Jonathan T et al. NPJ digital medicine 2022 5(1) 57
• Pharmacogenomics in clinical practice to prevent risperidone-induced hyperprolactinemia in autism spectrum disorder.
  Biswas Mohitosh et al. Pharmacogenomics 2022
• Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder.
  Stafford Christine F et al. Genes 2022 13(4)
• Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
  Brašic James Robert et al. Brain sciences 2022 12(3)
• Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.
  Marques Ana Rita et al. Biomedicines 2022 10(3)
• Abilities and Disabilities-Applying Machine Learning to Disentangle the Role of Intelligence in Diagnosing Autism Spectrum Disorders.
  Wolff Nicole et al. Frontiers in psychiatry 2022 13826043
• Use of Mobile and Wearable Artificial Intelligence in Child and Adolescent Psychiatry: Scoping Review.
  Welch Victoria et al. Journal of medical Internet research 2022 24(3) e33560
• Exploring polygenic contributors to subgroups of comorbid conditions in autism spectrum disorder.
  Klein Louis et al. Scientific reports 2022 12(1) 3416
• Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.
  Meraj Neelam et al. BMC women's health 2022 22(1) 57
• Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events.
  Wendt Frank R et al. Neurobiology of stress 2022 17100439
• Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.
  Birnbaum Rebecca et al. JAMA psychiatry 2022 79(3) 250-259
• Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
  Álvarez-Mora María Isabel et al. Orphanet journal of rare diseases 2022 17(1) 60
• Utilizing Genomically Targeted Molecular Data to Improve Patient-Specific Outcomes in Autism Spectrum Disorder.
  Hausman-Cohen Sharon et al. International journal of molecular sciences 2022 23(4)
• Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India.
  Hegde Rajat et al. Global medical genetics 2022 9(1) 18-22
• Accurate detection of autism using Douglas-Peucker algorithm, sparse coding based feature mapping and convolutional neural network techniques with EEG signals.
  Ari Berna et al. Computers in biology and medicine 2022 143105311
• Artificial Intelligence Enabled Personalised Assistive Tools to Enhance Education of Children with Neurodevelopmental Disorders-A Review.
  Barua Prabal Datta et al. International journal of environmental research and public health 2022 19(3)
• Safety and target engagement of an oral small-molecule sequestrant in adolescents with autism spectrum disorder: an open-label phase 1b/2a trial
  AS Campbell et al, Nature Medicine, February 14, 2022
• Differences in genetic risk score profiles for drug use disorder, major depression, and ADHD as a function of sex, age at onset, recurrence, mode of ascertainment, and treatment.
  Kendler Kenneth S et al. Psychological medicine 2022 1-13
• Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
  Kang Eungu et al. Orphanet journal of rare diseases 2022 17(1) 24
• Understanding microbiome alterations in autism
  K O'Leary, Nature Medicine, January 2022
• Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.
  Liu Yi et al. NPJ genomic medicine 2022 7(1) 1
• Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism.
  Ní Ghrálaigh Fiana et al. Journal of autism and developmental disorders 2022
• Gene Therapies for Monogenic Autism Spectrum Disorders.
  Weuring Wout et al. Genes 2021 12(11)
• Deep Learning Approach for Screening Autism Spectrum Disorder in Children with Facial Images and Analysis of Ethnoracial Factors in Model Development and Application.
  Lu Angelina et al. Brain sciences 2021 11(11)
• Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health.
  Johannessen Jarle et al. European journal of human genetics : EJHG 2021
• Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort.
  Chen Shimeng et al. Clinica chimica acta; international journal of clinical chemistry 2021
• Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas.
  Masri Amira T et al. Autism : the international journal of research and practice 2021 13623613211055535
• Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
  Du Xiaoli et al. Journal of autism and developmental disorders 2021
• Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia.
  Chen Chia-Hsiang et al. Frontiers in genetics 2021 12620496
• Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing.
  Peltekova Iskra et al. Molecular genetics & genomic medicine 2021 e1803
• Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
  Costa Claudia Ismania Samogy et al. Clinical genetics 2021
• Emo-mirror: a proposal to support emotion recognition in children with autism spectrum disorders.
  Pavez Rodolfo et al. Neural computing & applications 2021 1-12
• A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
  Pode-Shakked Ben et al. Scientific reports 2021 11(1) 19099
• Psychotropic prescribing rates and pharmacogenomic testing implications for autism in the Canadian primary care sentinel surveillance network.
  Ahmed Zeeshan et al. Pharmacogenetics and genomics 2021
• High-profile autism genetics project paused amid backlash Study aimed at collecting DNA from 10,000 people with autism and their families has drawn criticism for failing to consult the autism community.
  K Sandarson, Nature, September 27, 2021
• Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk.
  Marrus Natasha et al. Journal of neurodevelopmental disorders 2021 13(1) 39
• [Electroencephalogram feature extraction and classification of autistic children based on recurrence quantification analysis].
  Zhao Jie et al. Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi 2021 38(4) 663-670
• An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.
  Morris E et al. Human genetics 2021
• Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series.
  Peltekova Iskra et al. Journal of personalized medicine 2021 11(8)
• The Utility of Pharmacogenetic-Guided Psychotropic Medication Selection for Pediatric Patients: A Retrospective Study.
  Ariefdjohan Merlin et al. Pediatric reports 2021 13(3) 421-433
• Classification of Children With Autism and Typical Development Using Eye-Tracking Data From Face-to-Face Conversations: Machine Learning Model Development and Performance Evaluation.
  Zhao Zhong et al. Journal of medical Internet research 2021 23(8) e29328
• Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.
  Su Meng et al. Journal of genetic counseling 2021
• Machine learning with neuroimaging data to identify autism spectrum disorder: a systematic review and meta-analysis.
  Song Da-Yea et al. Neuroradiology 2021
• Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders.
  Ghirardi Laura et al. Journal of child psychology and psychiatry, and allied disciplines 2021
• Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.
  Trakadis Y et al. Neurogenetics 2021
• Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex.
  Golovina E et al. Scientific reports 2021 11(1) 15867
• Recent ultra-rare inherited variants implicate new autism candidate risk genes
  AB Wilfert et al, Nature Genetics, July 26, 2021
• Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder.
  Little India D et al. Frontiers in genetics 2021 12693158
• Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
  Kaymakcalan Hande et al. Molecular genetics & genomic medicine 2021 e1739
• DarkASDNet: Classification of ASD on Functional MRI Using Deep Neural Network.
  Ahammed Md Shale et al. Frontiers in neuroinformatics 2021 15635657
• Estimating the Prevalence and Genetic Risk Mechanisms of ARFID in a Large Autism Cohort.
  Koomar Tanner et al. Frontiers in psychiatry 2021 12668297
• A Deep Neural Network-Based Model for Screening Autism Spectrum Disorder Using the Quantitative Checklist for Autism in Toddlers (QCHAT).
  Mujeeb Rahman K K et al. Journal of autism and developmental disorders 2021
• Genetic, Clinical, and Sociodemographic Factors Associated With Stimulant Treatment Outcomes in ADHD.
  Brikell Isabell et al. The American journal of psychiatry 2021 appiajp202020121686
• Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.
  Arnett Anne B et al. Journal of neurodevelopmental disorders 2021 13(1) 24
• AI-Based Software Accurately Identifies Autism
  T Bosworth, Medscape, June 2021
• Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
  L Shao et al, Genetics in Medicine, June 15, 2021
• Association of Polygenic Liability for Autism With Face-Sensitive Cortical Responses From Infancy.
  Gui Anna et al. JAMA pediatrics 2021
• Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.
  Al-Sarraj Yasser et al. Genes 2021 12(5)
• [Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States].
  Xie Xiaolei et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 38(5) 419-424
• Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
  Arteche-López Ana et al. Genes 2021 12(4)
• A Systematic Literature Review on the Application of Machine-Learning Models in Behavioral Assessment of Autism Spectrum Disorder.
  Cavus Nadire et al. Journal of personalized medicine 2021 11(4)
• Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
  Martinez-Granero Francisco et al. NPJ genomic medicine 2021 6(1) 25
• Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
  J Gunter, the Vajenda, March 27, 2021
• A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case-control study in California.
  Lyall Kristen et al. Molecular autism 2021 12(1) 24
• Autism Spectrum Disorder, Family Health History, and Genetics
  CDC, March 2021
• Autism Spectrum Disorders Classification using Genotype Data: A Deep Learning-based Predictive Classifier.
  Wang Haishuai et al. JMIR medical informatics 2021
• Deep learning applications for the classification of psychiatric disorders using neuroimaging data: Systematic review and meta-analysis.
  Quaak Mirjam et al. NeuroImage. Clinical 2021 30102584
• Neuropsychiatric disease classification using functional connectomics - results of the connectomics in neuroimaging transfer learning challenge.
  Schirmer Markus D et al. Medical image analysis 2021 70101972

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