Genome sequencing identifies major causes of severe intellectual disability

An integrated encyclopedia of DNA elements in the human genome

The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165

Rate of de novo mutations and the importance of father’s age to disease risk

Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546

De novo mutations in epileptic encephalopathies

Epi4K Consortium, & Epilepsy Phenome/Genome Project (2013) · Nature · doi:10.1038/nature12439 · Cited by 1,514

De Novo Gene Disruptions in Children on the Autistic Spectrum

Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Pettersson, M., Vaz, R., Hammarsjö, A., Eisfeldt, J., Carvalho, C. M. B., Hofmeister, W., Tham, E., Horemuzova, E., Voss, U., Nishimura, G., et al. (2018) · Human Mutation · doi:10.1002/humu.23605 · Cited by 17

New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient

Song, C., Hong, Q., Geng, X., Wang, X., Wang, S., Cui, S., Guo, M., Li, O., Cai, G., Chen, X., et al. (2018) · Chinese Medical Journal · doi:10.4103/0366-6999.245158 · Cited by 16

PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders

Lin, G. N., Guo, S., Xian, T., Wang, W., Qian, W., Song, W., Wang, J., Yu, S., Wang, Z., Cui, D., et al. (2019) · Genomics Proteomics & Bioinformatics · doi:10.1016/j.gpb.2019.10.002 · Cited by 16

Joint detection of copy number variations in parent-offspring trios

Liu, Y., Liu, J., Lü, J., Peng, J., Juan, L., Zhu, X., Li, B., & Wang, Y. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv707 · Cited by 16

Disruption of regulatory domains and novel transcripts as disease‐causing mechanisms

Allou, L., & Mundlos, S. (2023) · BioEssays · doi:10.1002/bies.202300010 · Cited by 15

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

Riquin, K., Isidor, B., Mercier, S., Nizon, M., Colin, E., Bonneau, D., Pasquier, L., Odent, S., Horn, X. L. G., Guyader, G. L., et al. (2023) · Journal of Medical Genetics · doi:10.1136/jmg-2023-109263 · Cited by 18

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene

Fernandez, T. V., Williams, Z. P., Kline, T., Rajendran, S., Augustine, F., Wright, N. R. D., Sullivan, C. A. W., Olfson, E., Abdallah, S. B., Liu, W., et al. (2023) · PLoS ONE · doi:10.1371/journal.pone.0291978 · Cited by 15

Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders

Marotta, N., Boland, M. J., & Prosser, B. L. (2024) · Current problems in pediatric and adolescent health care · doi:10.1016/j.cppeds.2024.101576 · Cited by 15

Genetic screening and diagnosis in epilepsy?

Sisodiya, S. M. (2015) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000180 · Cited by 16

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

Ziegler, A. C., Bader, P. I., McWalter, K. M., Douglas, G., Houdayer, C., Bris, C., Rouleau, S., Coutant, R., Colin, E., & Bonneau, D. (2019) · Clinical Genetics · doi:10.1111/cge.13603 · Cited by 15

MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia

Rodríguez‐García, M. E., Cotrina‐Vinagre, F. J., Gómez‐Cano, M. Á., de Aragón, A. M., Martín‐Hernández, E., & Martínez‐Azorín, F. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61560 · Cited by 15

Bioinformatics Analysis Revealed Novel 3′UTR Variants Associated with Intellectual Disability

Yang, J., Liu, A., He, I., & Bai, Y. (2020) · Genes · doi:10.3390/genes11090998 · Cited by 15

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

Murch, O., Jain, V., Benneche, A., Metcalfe, K., Hobson, E., Prescott, K., Chandler, K., Ghali, N., Carmichael, J., Foulds, N. C., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00961-3 · Cited by 15

Neurometabolic disorders

Willemsen, M. A. A. P., Harting, I., & Wevers, R. A. (2016) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000000266 · Cited by 15

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Darvish, H., Azcona, L. J., Tafakhori, A., Ahmadi, M., Ahmadifard, A., & Paisán‐Ruiz, C. (2017) · npj Genomic Medicine · doi:10.1038/s41525-017-0022-7 · Cited by 15

Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China

Liao, L., Chen, C., Peng, J., Wu, L., He, F. P., Yang, L., Zhang, C., Wang, G., Peng, P., Ma, Y., et al. (2019) · Chinese Medical Journal · doi:10.1097/cm9.0000000000000295 · Cited by 16

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

Rahman, M. M., Uddin, K. M. F., Al‐Jezawi, N. K., Karuvantevida, N. S., Akter, H., Dity, N. J., Rahaman, M. A., Begum, M., Rahaman, A., Baqui, M. A., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.954 · Cited by 15

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

Verhoeven, W. M. A., Egger, J. I. M., Knegt, A. C., Zuydam, J., & Kleefstra, T. (2016) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s102272 · Cited by 15

From genes to genomes in the clinic

Veltman, J. A., & Lupski, J. R. (2015) · Genome Medicine · doi:10.1186/s13073-015-0200-0 · Cited by 15

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

Yi, Z., Zhang, Y., Song, Z., Pan, H., Yang, C., Li, F. R., Xue, J., & Qu, Z. (2020) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-020-00847-y · Cited by 14

PDZD8-deficient mice manifest behavioral abnormalities related to emotion, cognition, and adaptation due to dyslipidemia in the brain

Kurihara, Y., Mitsunari, K., Mukae, N., Shoji, H., Miyakawa, T., & Shirane, M. (2023) · Molecular Brain · doi:10.1186/s13041-023-01002-4 · Cited by 14

Effectiveness of pharmacological interventions for managing ADHD symptoms in individuals with autism spectrum disorder: A systematic review and meta-analysis

Martins, P. L. B., Torquato, G. C. P., Dias, G. A. P. F., Leite, I. B., GASPAR, T. M., Pinto, J. P., & Macêdo, D. S. (2024) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2024.111089 · Cited by 14

Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator

Jiménez-Romero, M. S., Salas, P. C., & Benítez‐Burraco, A. (2018) · Molecular Syndromology · doi:10.1159/000485638 · Cited by 14

RNAi-mediated depletion of the NSL complex subunits leads to abnormal chromosome segregation and defective centrosome duplication in Drosophila mitosis

Pavlova, G. A., Popova, J. V., Andreyeva, E. N., Yarinich, L. A., Lebedev, M. O., Razuvaeva, A. V., Dubatolova, T. D., Oshchepkova, A. L., Pellacani, C., Somma, M. P., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008371 · Cited by 14

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

Xiol, C., Heredia, M. J. G., Pascual‐Alonso, A., Oyarzábal, A., & Armstrong, J. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221910375 · Cited by 14

Two novel pathogenic variants in MED13L: one familial and one isolated case

Carvalho, L. M. L., da Costa, S. S., Campagnari, F., Kaufman, A., Bertola, D. R., da Silva, I. T., Krepischi, A. C. V., Koiffmann, C. P., & Rosenberg, C. (2021) · Journal of Intellectual Disability Research · doi:10.1111/jir.12891 · Cited by 14

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Shankar, S. P., Grimsrud, K., Lanoue, L., Egense, A., Willis, B., Hörberg, J., AlAbdi, L., Mayer, K., Ütkür, K., Monaghan, K. G., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.03.014 · Cited by 14

Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study

Ng‐Cordell, E., Kolesnik, A., O’Brien, S., Astle, D. E., Scerif, G., & Baker, K. (2022) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-022-05527-w · Cited by 14

Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism

Chander, V., Mahmoud, M., Hu, J., Dardas, Z., Grochowski, C. M., Dawood, M., Khayat, M. M., Li, H., Li, S., Jhangiani, S. N., et al. (2022) · Human Mutation · doi:10.1002/humu.24461 · Cited by 14

Current trends of high-risk gene Cul3 in neurodevelopmental disorders

Lin, P., Yang, J., Wu, S., Ye, T., Zhuang, W., Wang, W., & Tan, T. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1215110 · Cited by 14

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Kumar, R., Ha, T., Pham, D., Shaw, M. A., Mangelsdorf, M., Friend, K. L., Hobson, L., TURNER, G. M., Boyle, J., Field, M. J., et al. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.46 · Cited by 14

A domain-based DNA circuit for smart single-nucleotide variant identification

Zhong, W., Tang, W., Fan, J., Zhang, J., Zhou, X., & Liu, Y. (2017) · Chemical Communications · doi:10.1039/c7cc07733e · Cited by 14

Rodent genetic models of neurodevelopmental disorders and epilepsy

Gonzalez‐Sulser, A. (2019) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.012 · Cited by 16

Loss-of-function tolerance of enhancers in the human genome

Xu, D., Gökçümen, Ö., & Khurana, E. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008663 · Cited by 14

Autism spectrum disorder genomics: The progress and potential of genomic technologies

Ghrálaigh, F. N., Gallagher, L., & Lopez, L. M. (2020) · Genomics · doi:10.1016/j.ygeno.2020.09.022 · Cited by 14

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

Albuquerque, A. L. B., dos Santos, G. G., Sadok, S. H., Antonello, B. B., de Jesus, L. M., Carvalho, M. O., Mutarelli², A. M., & Ribeiro, P. V. Z. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64146 · Cited by 14

Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability

Jia, X., Zhu, J., Bian, X., Liu, S., Yu, S., Liang, W., Jiang, L., Mao, R., Zhang, W., & Rao, Y. (2023) · eLife · doi:10.7554/elife.86972 · Cited by 14

Somatic Mosaicism and Neurological Diseases

Jamuar, S. S., D’Gama, A. M., & Walsh, C. A. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800105-9.00012-3 · Cited by 12

Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype

Bustamante, M. L., Herrera, L., Gaspar, P. A., Nieto, R. R., Maturana, A., Villar, M. J., Salinas, V., & Hernán Silva, I. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32550 · Cited by 13

Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Vrijenhoek, T., Tõnisson, N., Kääriäinen, H. A., Leitsalu, L., & Rigter, T. (2021) · Journal of Community Genetics · doi:10.1007/s12687-021-00514-7 · Cited by 13

Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus

Allington, G., Duy, P. Q., Ryou, J., Singh, A. K., Kiziltug, E., Robert, S. M., Kundishora, A. J., King, S. B., Haider, S. M., Kahle, K. T., et al. (2022) · Journal of Neurosurgery Pediatrics · doi:10.3171/2021.8.peds21368 · Cited by 13

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations

Rath, M., Jenssen, S. E., Schwefel, K., Spiegler, S., Kleimeier, D., Sperling, C., Kaderali, L., & Felbor, U. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.06.007 · Cited by 13

Stress Odorant Sensory Response Dysfunction in Drosophila Fragile X Syndrome Mutants

Androschuk, A., He, R. X., Weber, S. M., Rosenfelt, C. S., & Bolduc, F. V. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00242 · Cited by 13

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

Lacey, C. J., Doudney, K., Bridgman, P. G., George, P. M., Mulder, R., Zarifeh, J., Kimber, B., Cadzow, M. J., Black, M. A., Merriman, T. R., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-25827-5 · Cited by 13

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Ben‐Mahmoud, A., Al-Shamsi, A. M., Ali, B. R., & Al‐Gazali, L. (2019) · Journal of Molecular Neuroscience · doi:10.1007/s12031-019-01415-8 · Cited by 13

Performance comparison: exome sequencing as a single test replacing Sanger sequencing

Fridman, H., Bormans, C. A., Einhorn, M., Au, D., Bormans, A., Porat, Y., Sanchez, L. F., Manning, B., Levy‐Lahad, E., & Behar, D. M. (2021) · Molecular Genetics and Genomics · doi:10.1007/s00438-021-01772-3 · Cited by 13

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticityPreprint

Goldmann, J. M., Hampstead, J. E., Wong, W. S. W., Wilfert, A. B., Turner, T. N., Jonker, M. A., Bernier, R., Huynen, M. A., Eichler, E. E., Veltman, J. A., et al. (2021) · Genome Research · doi:10.1101/gr.271809.120 · Cited by 13

Spatial-Temporal Characteristics of Brain Activity in Autism Spectrum Disorder Based on Hidden Markov Model and Dynamic Graph Theory: A Resting-State fMRI Study

Qian, S., Yang, Q., Cai, C., Dong, J., & Cai, S. (2024) · Brain Sciences · doi:10.3390/brainsci14050507 · Cited by 12

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Lee, A. S., Ayers, L. J., Kosicki, M., Chan, W. M., Fozo, L., Pratt, B. M., Collins, T. E., Zhao, B., Rose, M. F., Sanchis‐Juan, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-52463-7 · Cited by 12

Critical points for an accurate human genome analysis

White, S. J., Laros, J. F. J., Bakker, E., Cambon‐Thomsen, A., Eden, M., Leonard, S., Lochmüller, H., Matthijs, G., Mattocks, C., Patton, S. J., et al. (2017) · Human Mutation · doi:10.1002/humu.23238 · Cited by 12

National human genome projects: an update and an agenda

An, J. (2017) · Epidemiology and Health · doi:10.4178/epih.e2017045 · Cited by 12

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

Eyal, O., Berkenstadt, M., Reznik‐Wolf, H., Poran, H., Ziv‐Baran, T., Greenbaum, L., Yonath, H., & Pras, E. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.573 · Cited by 13

Accelerated implementation of FQSqueezer novel genomic compression method

Amich, M., Luca, P. D., & Fiscale, S. (2020) · International Symposium on Parallel and Distributed Computing · doi:10.1109/ispdc51135.2020.00030 · Cited by 12

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism

Young, N., Asif, M., Jackson, M., Fernández-Mayoralas, D. M., de la Peña, M. J., Calleja‐Pérez, B., Álvarez, S., Hunter-Featherstone, E., Noegel, A. A., Höhne, W. E., et al. (2021) · Genes · doi:10.3390/genes12091294 · Cited by 12

DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders

Beyreli, İ., Karakahya, O., & Çiçek, A. E. (2022) · Patterns · doi:10.1016/j.patter.2022.100524 · Cited by 13

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

Asif, M., Anayat, M., Tariq, F., Noureen, T., Din, G. N. U., Becker, C., Becker, K., Thiele, H., Makhdoom, E. U. H., Shaiq, P. A., et al. (2022) · Genes · doi:10.3390/genes14010048 · Cited by 12

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Ibrahim, N., Naz, S., Mattioli, F., Guex, N., Sharif, S., Iqbal, A., Ansar, M., & Reymond, A. (2023) · Genes · doi:10.3390/genes14030707 · Cited by 12

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability

Madrigal, I., Álvarez‐Mora, M. I., Rosell, J., Rodríguez‐Revenga, L., Karlberg, O., Sauer, S., Syvänen, A., & Milà, M. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.267 · Cited by 12

Application of whole‐exome sequencing for detecting copy number variants in CMT1A/HNPP

Jo, H. Y., Park, M. ‐., Woo, H.-M., Han, M., Kim, B., Choi, B., Chung, K. W., & Koo, S. K. (2015) · Clinical Genetics · doi:10.1111/cge.12714 · Cited by 12

Analysis of gene expression in the nervous system identifies key genes and novel candidates for health and disease

Carpanini, S. M., Wishart, T. M., Gillingwater, T. H., Manson, J. C., & SUMMERS, K. M. (2017) · Neurogenetics · doi:10.1007/s10048-017-0509-5 · Cited by 12

Future perspectives of genome-scale sequencing

Steyaert, W., Callens, S. F. J., Coucke, P. J., Dermaut, B., Hemelsoet, D., Terryn, W., & Poppe, B. G. (2018) · Acta Clinica Belgica · doi:10.1080/17843286.2017.1413809 · Cited by 12

Genetic Approach to Diagnosis of Intellectual Disability

Puri, R. D., Tuteja, M., & Verma, I. C. (2016) · The Indian Journal of Pediatrics · doi:10.1007/s12098-016-2205-0 · Cited by 12

Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid

Mao, Q., Chin, R. G., Xie, W., Deng, Y., Zhang, W., Xu, H., Zhang, R. Y. U., Shi, Q., Peters, E. E., Gulbahce, N., et al. (2018) · Clinical Chemistry · doi:10.1373/clinchem.2017.281220 · Cited by 12

Categorical and Dimensional Approaches for Psychiatric Classification and Treatment Targeting: Considerations from Psychosis Biotypes

Clementz, B. A., Assaf, M., Sweeney, J. A., Gershon, E. S., Keedy, S., Hill, S. K., Ivleva, E. I., Tamminga, C. A., McDowell, J. E., Keshavan, M. S., et al. (2024) · Advances in neurobiology · doi:10.1007/978-3-031-69491-2_23 · Cited by 11

Prospects of Non-Coding Elements in Genomic DNA Based Gene Therapy

Simna, S. P., & Han, Z. (2021) · Current Gene Therapy · doi:10.2174/1566523221666210419090357 · Cited by 11

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene

Hernández, A. V. M., Vila, M. T., Montoya-Filardi, A., Barranco-González, H., Vilchez, J. J., Azorı́n, I., Dura, P. S., Monfort, S., Castellano, I. P., & Martı́nez, F. (2021) · Clinical Genetics · doi:10.1111/cge.14093 · Cited by 11

Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

Doddato, G., Fabbiani, A., Scandurra, V., Canitano, R., Mencarelli, M. A., Renieri, A., & Ariani, F. (2022) · Genes · doi:10.3390/genes13040688 · Cited by 11

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Levchenko, O. A., Леонидовна, Д. Е., Бессонова, Л. А., Demina, N., Rudenskaya, G. E., Matyushchenko, G., Маркова, Т. В., Anisimova, I. V., Semenova, N. A., Shchagina, O., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147764 · Cited by 11

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Viard, J., Loe-Mie, Y., Daudin, R., Khelfaoui, M., Plançon, C., Boland, A., Tejedor, F. J., Huganir, R. L., Kim, E., Kinoshita, M., et al. (2022) · Life Science Alliance · doi:10.26508/lsa.202101205 · Cited by 12

100,000 genomes pilot on rare-disease diagnosis in health care – preliminary report

The Genomes-Project-Pilot-Investigators (2022) · Yearbook of pediatric endocrinology · doi:10.1530/ey.19.15.16 · Cited by 11

Deciphering Intellectual Disability

Gupta, N. (2022) · The Indian Journal of Pediatrics · doi:10.1007/s12098-022-04345-3 · Cited by 11

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

Schroeder, C., Faust, U., Krauße, L., Liebmann, A., Abele, M., Demidov, G. M., Schütz, L., Kelemen, O., Pohle, A., Gauß, S., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01423-8 · Cited by 11

The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome

Gold, W. A., & Christodoulou, J. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00266 · Cited by 12

Zeroing in on the Genetics of Intelligence

Arslan, R. C., & Penke, L. (2015) · Journal of Intelligence · doi:10.3390/jintelligence3020041 · Cited by 11

A distinctive oral phenotype points to FAM 20A mutations not identified by S anger sequencing

Poulter, J. A., Smith, C. E. L., Murrillo, G., Silva, S., Feather, S. A., Howell, M., Crinnion, L. A., Bonthron, D. T., Carr, I., Watson, C. M., et al. (2015) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.164 · Cited by 11

Epileptic Encephalopathies as Neurodegenerative Disorders

Helbig, I., von Deimling, M., & Marsh, E. D. (2017) · Advances in neurobiology · doi:10.1007/978-3-319-57193-5_11 · Cited by 14

Genetic analysis of deep phenotyping projects in common disorders

Gershon, E. S., Pearlson, G. D., Keshavan, M. S., Tamminga, C. A., Clementz, B. A., Buckley, P. F., Alliey‐Rodriguez, N., Liu, C., Sweeney, J. A., Keedy, S., et al. (2017) · Schizophrenia Research · doi:10.1016/j.schres.2017.09.031 · Cited by 11

Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

Aggarwal, S., Bhowmik, A. D., Tandon, A., & Dalal, A. B. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.02.009 · Cited by 11

Insights into National Laboratory Newborn Screening and Future Prospects

Mujamammi, A. H. (2022) · Medicina · doi:10.3390/medicina58020272 · Cited by 11

The number of mitochondrial DNA mutations as a genetic feature for hair cycle arrest (alopecia X) in Pomeranian dogs

Kang, Y., Hyun, J., & Hwang, C. (2022) · Veterinary Dermatology · doi:10.1111/vde.13114 · Cited by 11

Explorations to improve the completeness of exome sequencing

Du, C., Pusey, B. N., Adams, C. J., Lau, C. C., Bone, W. P., Gahl, W. A., Markello, T. C., & Adams, D. R. (2016) · BMC Medical Genomics · doi:10.1186/s12920-016-0216-3 · Cited by 11

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

Cuinat, S., Bézieau, S., Deb, W., Mercier, S., Vignard, V., Isidor, B., Küry, S., & Ebstein, F. (2024) · Genes & Diseases · doi:10.1016/j.gendis.2023.101130 · Cited by 10

The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal

Lazcano-Ponce, E. C., Katz, G., Rodríguez‐Valentín, R., de Castro, F., Allen‐Leigh, B., Márquez-Caraveo, M. E., Ramírez-García, M. Á., Arroyo-García, E., Medina‐Mora, M. E., Angeles, G., et al. (2016) · Salud Pública de México · doi:10.21149/spm.v58i6.8267 · Cited by 10

Applications of genome sequencing as a single platform for clinical constitutional genetic testing

Yang, Y., del Gaudio, D., Santani, A., & Scott, S. A. (2024) · Genetics in Medicine Open · doi:10.1016/j.gimo.2024.101840 · Cited by 10

The genetic cause of neurodevelopmental disorders in 30 consanguineous families

Paracha, S. A., Nawaz, S., Sarwar, M. T., Shaheen, A., Zaman, G., Ahmed, J., Shah, F., Khawaja, S., Jan, A., Khan, N., et al. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1424753 · Cited by 10

A de novo heterozygous variant in KAT6A is associated with a newly named neurodevelopmental disorder Arboleda-Tham syndrome—a case report

Jiang, M., Yang, L., Wu, J., Xiong, F., & Li, J. (2021) · Translational Pediatrics · doi:10.21037/tp-21-206 · Cited by 10

Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology

Kadlubowska, M. K., & Schrauwen, I. (2022) · Genes · doi:10.3390/genes13020333 · Cited by 12

Adult Camk2a Gene Reinstatement Restores the Learning and Plasticity Deficits of Camk2a Knockout Mice

Rigter, P. M. F., Wallaard, I., Jolfaei, M. A., Kingma, J., Post, L. C., Elgersma, M., Elgersma, Y., & van Woerden, G. M. (2022) · iScience · doi:10.1016/j.isci.2022.105303 · Cited by 10

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

Lecoquierre, F., Quenez, O., Fourneaux, S., Coutant, S., Vézain, M., Rolain, M., Drouot, N., Boland, A., Olaso, R., Meyer, V., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02553-1 · Cited by 10

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

Morgan, A., Gandin, I., Belcaro, C., Palumbo, P., Palumbo, O., Biamino, E., Col, V. D., Laurini, E., Pricl, S., Bosco, P., et al. (2015) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2015.09.002 · Cited by 10

A missense mutation underlies defective SOCS 4 function in a family with autoimmunity

Arts, P., Plantinga, T. S., van den Berg, J. M., Gilissen, C., Veltman, J. A., van Trotsenburg, A. S. P., van de Veerdonk, F. L., Kuijpers, T. W., Hoischen, A., & Netea, M. G. (2015) · Journal of Internal Medicine · doi:10.1111/joim.12351 · Cited by 10

Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies

Szczałuba, K., & Demkow, U. A. (2016) · Journal of Applied Genetics · doi:10.1007/s13353-016-0376-z · Cited by 10

Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans

Viscardi, L. H., Paixão‐Côrtes, V. R., Comas, D., Salzano, F. M., Rovaris, D. L., Bau, C. H. D., Amorim, C. E. G., & Bortolini, M. C. (2018) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2017-0308 · Cited by 10

Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia

Heimer, G., van Woerden, G. M., Barel, O., Marek‐Yagel, D., Kol, N., Munting, J. B., Borghei, M., Atawneh, O., Nissenkorn, A., Rechavi, G., et al. (2019) · Human Mutation · doi:10.1002/humu.23945 · Cited by 10

Primary immunodeficiencies in cytosolic pattern‐recognition receptor pathways: Toward host‐directed treatment strategies

van der Made, C. I., Hoischen, A., Netea, M. G., & van de Veerdonk, F. L. (2020) · Immunological Reviews · doi:10.1111/imr.12898 · Cited by 10

Identification of thalassemia gene cluster deletion by long‐read whole‐genome sequencing (LR‐WGS)

Jiang, F., Lyu, G., Zhang, V. W., & Li, D. (2021) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.13452 · Cited by 10

De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca

Hsu, J. S., So, M., Tang, C. S.-M., Karim, A., Porsch, R. M., Wong, C. W. Y., Yu, M., Yeung, F., Xia, H., Zhang, R., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx406 · Cited by 10

Loss of NSD2 causes dysregulation of synaptic genes and altered H3K36 dimethylation in mice

Kinoshita, S., Kojima, K., Ohnishi, E., Takayama, Y., Kikuchi, H., Takada, S., Nakabayashi, K., Kawai, T., & Hata, K. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1308234 · Cited by 9

Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study

Brkić, D., Ng‐Cordell, E., O’Brien, S., Scerif, G., Astle, D. E., & Baker, K. (2020) · Molecular Autism · doi:10.1186/s13229-020-00403-9 · Cited by 9

Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline

Park, J., Sturm, M., Kelemen, O., Ossowski, S., & Haack, T. B. (2024) · Genes · doi:10.3390/genes15010136 · Cited by 9

Diagnostic approach for genetic causes of intellectual disability

Yim, S.-Y. (2015) · Journal of genetic medicine · doi:10.5734/jgm.2015.12.1.6 · Cited by 1

Whole Genome Sequencing Analysis of a severe Idiopathic Intellectual Disability Syndrome or "limitations of theory may not be revealed when the facts are too few" - Knox 1958

Lyon, G. J. (2013) · Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory)

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

Preikšaitienė, E., Ambrozaitytė, L., Maldžienė, Ž., Morkūnienė, A., Cimbalistienė, L., Rančelis, T., Utkus, A., & Kučinskas, V. (2016) · Acta medica Lituanica · doi:10.6001/actamedica.v23i2.3324 · Cited by 5

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India

Panigrahi, I., Rao, S., Kumar, S., Kumari, D., & Kaur, P. (2024) · Case Reports in Genetics · doi:10.1155/2024/6009569

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Silfhout, A. T. V., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2013) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000428160.59063.a6 · Cited by 204