Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J +8 more·2017·Nature Genetics
DOI 10.1038/ng.3789
Cited by (341)
Items 101–200 of 341
- Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disordersKaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F. et al. · 2019
- Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia PathogenesisElliott Rees, Noa Carrera, Joanne Morgan, Kirsty Hambridge, Valentina Escott‐Price, Andrew J. Pocklington, Alexander L. Richards, Antonio F. Pardiñas, Colm McDonald, Gary J Donohoe et al. · 2018 · Biological Psychiatry
- Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancerDana Farengo Clark, Scott T. Michalski, Rashmi Tondon, Bita Nehoray, Jessica Ebrahimzadeh, Sarah Hughes, Emily R. Soper, Susan M. Domchek, Anil K. Rustgi, Daniel Pineda‐Alvarez et al. · 2020 · Genetics in Medicine
- Three decades of ASD genetics: building a foundation for neurobiological understanding and treatmentKatherine W. Eyring, Daniel H. Geschwind · 2021 · Human Molecular Genetics
- De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresIto, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline et al. · 2018 · The American Journal of Human Genetics
- An interaction-based model for neuropsychiatric features of copy-number variantsMatthew Jensen, Santhosh Girirajan · 2019 · PLoS Genetics
- Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortalityRuebena Dawes, Monkol Lek, Sandra T. Cooper · 2019 · npj Genomic Medicine
- Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington diseaseRoss Ferguson, Robert Goold, Lucy A. Coupland, Michael D. Flower, Sarah J. Tabrizi · 2024 · The American Journal of Human Genetics
- Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical OutcomesEleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria · 2021 · Frontiers in Genetics
- Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsLama AlAbdi, Muriel Desbois, Domnița-Valeria Rusnac, Raashda Ainuddin Sulaiman, Jill Anne Rosenfeld, Seema R. Lalani, David R. Murdock, Lindsay Catherine Burrage, Undiagnosed Diseases Network, Ping Yee Billie Au et al. · 2022 · Brain
- Applicability of the Mutation–Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in HumansDonate Weghorn, Daniel J. Balick, Christopher A. Cassa, Jack A. Kosmicki, Mark J. Daly, David R. Beier, Shamil R. Sunyaev · 2019 · Molecular Biology and Evolution
- Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I. Torene, María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens, Elizabeth Melvin Heise, Karen Chong, Richard Sidlow, Lauren O’Grady et al. · 2023 · The American Journal of Human Genetics
- Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disordersLia D’Abate, Susan Walker, Ryan K. C. Yuen, Kristiina Tammimies, Janet A. Buchanan, Robbie Davies, Bhooma Thiruvahindrapuram, John Wei, Jessica A. Brian, Susan E. Bryson et al. · 2019 · Nature Communications
- De novo variation in bipolar disorderFernando S. Goes, Mehdi Pirooznia, Martin Tehan, Peter P. Zandi, John A. McGrath, Paula S Wolyniec, Gerald Nestadt, Ann E. Pulver · 2019 · Molecular Psychiatry
- Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorderMasaki Nishioka, An‐a Kazuno, Takumi Nakamura, Naomi Sakai, Takashi Hayama, Kumiko Fujii, Koji Matsuo, Atsuko Komori, Mizuho Ishiwata, Yoshinori Watanabe et al. · 2021 · Nature Communications
- ExACtly zero or onceCaitlin A. Bennett, Slavé Petrovski, Karen L. Oliver, Samuel Frank Berkovic · 2017 · Neurology Genetics
- Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experienceNandini Mitta, Ramshekhar N. Menon, Amy McTague, Ashalatha Radhakrishnan, Soumya Sundaram, Ajith Cherian, G. K. Madhavilatha, Ashraf ul Mannan, Sheela Nampoothiri, Sanjeev V. Thomas · 2020 · Epilepsy Research
- De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in femalesDong Li, Alanna Strong, Kaitlyn M Shen, David M Cassiman, Maria Van Dyck, Natália D. Linhares, Eugênia Ribeiro Valadares, Tian-Cheng Wang, Sérgio D.J. Pena, Jaak Jaeken et al. · 2020 · Genetics in Medicine
- Disruption of the psychiatric risk gene Ankyrin 3 enhances microtubule dynamics through GSK3/CRMP2 signalingJacob C. Garza, Xiaoli Qi, Klaudio Gjeluci, Melanie P. Leussis, Himanish Basu, Surya A. Reis, Wen Ning Zhao, Nicolas H. Piguel, Peter Penzes, Stephen J. Haggarty et al. · 2018 · Translational Psychiatry
- Genetic landscape of autism spectrum disorder in Vietnamese childrenTrần Trung Kiên, Vinh Sy Le, Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Hieu Thi Nguyen, Lan T.M. Dao, Thanh Hong Nguyen, Duc Minh Vu, Lien Thi Ha et al. · 2020 · Scientific Reports
- A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutationsXiaolin Zhu, Raghavendra Padmanabhan, Brett R. Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O’Driscoll-Collins, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Annapurna Poduri et al. · 2017 · PLoS Genetics
- Truncating variant burden in high-functioning autism and pleiotropic effects of
<i>LRP1</i>
across psychiatric phenotypesTorrico, Bàrbara, Shaw, Alex D., Mosca, Roberto, Vivó-Luque, Norma, Hervás, Amaia, Fernàndez-Castillo, Noèlia, Aloy, Patrick, Bayés, Mònica, Fullerton, Janice M., Cormand, Bru et al. · 2019 · Journal of Psychiatry and Neuroscience
- VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing StudiesManuel Belmadani, Matthew Jacobson, Nathan Holmes, Minh Phan, Tue Gia Nguyen, Paul Pavlidis, Sanja Rogić · 2019 · Autism Research
- AI-Driver: an ensemble method for identifying driver mutations in personal cancer genomesHaoxuan Wang, Tao Wang, Xiaolu Zhao, Honghu Wu, Mingcong You, Zhong Sheng Sun, Fengbiao Mao · 2020 · NAR Genomics and Bioinformatics
- Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesSe Hee Kim, Borahm Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung‐Tae Lee, Hoon‐Chul Kang · 2019 · Pediatric Neurology
- A Genocentric Approach to Discovery of Mendelian DisordersAdam W. Hansen, Mullai Murugan, He Li, Michael M. Khayat, Liwen Wang, Jill Anne Rosenfeld, B. Kim Andrews, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Fritz Joachim Sedlazeck et al. · 2019 · The American Journal of Human Genetics
- Linking Autism Risk Genes to Disruption of Cortical DevelopmentMarta García-Forn, Andrea Boitnott, Zeynep Akpinar, Silvia De Rubeis · 2020 · Cells
- Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellåker, Hanka Venselaar, Galuh Astuti, Tahsin Stefan Barakat, Elizabeth Martina Bebin et al. · 2022 · Genetics in Medicine
- Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma L. Wakeling, Elaine J. Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Stefan Piatek, Helena Ahlfors, Robert S. Kleyner et al. · 2019 · Human Mutation
- Rare genetic brain disorders with overlapping neurological and psychiatric phenotypesKathryn J. Peall, Michael John Owen, Jérémy Hall · 2023 · Nature Reviews Neurology
- Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disordersSheng Luo, Pengyu Wang, Peng Zhou, Wen-Jun Zhang, Yujie Gu, Xiaoyu Liang, Jingwen Zhang, Jun-Xia Luo, Hongwei Zhang, Song Lan et al. · 2024 · The American Journal of Human Genetics
- Germline de novo mutation rates on exons versus introns in humansM. Rodriguez-Galindo, S. Casillas, Donate Weghorn, A. Barbadilla · 2019 · Nature Communications
- Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variantsBret Sanders, Daniel D’Andrea, Mark O. Collins, Elliott Rees, Tom G. J. Steward, Ying Zhu, Gareth Chapman, Sophie E. Legge, Antonio F. Pardiñas, Adrian J. Harwood et al. · 2022 · Nature Communications
- Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder CohortJincheng Wang, Juehua Yu, Mengdi Wang, Lingli Zhang, Kan Yang, Xiujuan Du, Jinyu Wu, Xiaoqun Wang, Fei Ran Li, Zilong Qiu · 2023 · Biological Psychiatry
- A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disordersMegan Conrow‐Graham, Jamal B. Williams, Jennifer A. Martin, Ping Zhong, Qing Cao, Benjamin A. Rein, Zhen Yan · 2022 · Brain
- ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomesMing‐Feng He, Lihong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng‐Yu Wang, Qiong‐Xiang Zhai, Su‐Li He, Dongfang Zou, Xiao‐Rong Liu et al. · 2024 · Journal of Medical Genetics
- Rare germline structural variants increase risk for pediatric solid tumorsRiaz Gillani, Ryan L. Collins, Jett Crowdis, Amanda Garza, Jill K. Jones, Mark Walker, Alba Sanchis-Juan, Chris Whelan, Emma Pierce‐Hoffman, Michael E. Talkowski et al. · 2025 · Science
- Rare variant association testing in the non-coding genomeOzvan Bocher, Emmanuelle Génin · 2020 · Human Genetics
- Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidatesMarta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali Jane Rochat, Alessandra Maresca et al. · 2024 · npj Genomic Medicine
- Next-Generation Sequencing in Autism Spectrum DisorderStephan Sanders · 2018 · Cold Spring Harbor Perspectives in Medicine
- Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traitsRavi Prabhakar More, Varun Warrier, Héléna Brunel, Clara Buckingham, Paula L. Smith, Carrie L. Allison, Rosemary Holt, Charles Richard Bradshaw, Simon Baron‐Cohen · 2023 · Molecular Psychiatry
- ASD and ADHD have a similar burden of rare protein-truncating variantsF. Satterstrom, Raymond K. Walters, T. Singh, E. Wigdor, F. Lescai, D. Demontis, Jack A. Kosmicki, J. Grove, Christine R. Stevens, J. Bybjerg-Grauholm et al. · 2018 · bioRxiv
- Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, María J. Guillen Sacoto, Francisca Millan Zamora, Yue Cindy Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser et al. · 2021 · American Journal of Medical Genetics Part A
- Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERTHiroaki Murakami, Norito Tamura, Yumi Enomoto, Kentaro Shimasaki, Kenji Kurosawa, Kentaro Hanada · 2020 · PLoS ONE
- Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohortDaniel B. Callaghan, Sanja Rogić, Powell Patrick Cheng Tan, Kristina Calli, Ying Qiao, Robert Baldwin, Matthew Jacobson, Manuel Belmadani, Nathan Holmes, Chang Yu et al. · 2019 · Clinical Genetics
- Gene constraint and genotype–phenotype correlations in neurodevelopmental disordersCatalina Betancur, Joseph D. Buxbaum · 2020 · Current Opinion in Genetics & Development
- Genes associated with anhedonia: a new analysis in a large clinical trial (GENDEP)Hongyan Ren, Chiara Fabbri, Rudolf Uher, Marcella Rietschel, Ole N Mors, Neven Henigsberg, Joanna Hauser, Astrid W. Zobel, Wolfgang Maier, Mojca Zvezdana Dernovšek et al. · 2018 · Translational Psychiatry
- Estimating contribution of rare non‐coding variants to neuropsychiatric disordersAtsushi Takata · 2018 · Psychiatry and Clinical Neurosciences
- The role of SLC12A family of cation-chloride cotransporters and drug discovery methodologiesShiyao Zhang, Nur Farah Meor Azlan, Sunday Solomon Josiah, Jing Zhou, Zhou Xiaoxia, Lingjun Jie, Yanhui Zhang, Cuilian Dai, Dong Liang, Peifeng Li et al. · 2023 · Journal of Pharmaceutical Analysis
- MVP: predicting pathogenicity of missense variants by deep learningHongjian Qi, Chen Chen, Haicang Zhang, John J. Long, Wendy K. Chung, Yongtao Guan, Yufeng Shen · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stabilityFabian Meili, William Wei, Wun‐Chey Sin, Warren M. Meyers, Iulia Dascalu, Daniel B. Callaghan, Sanja Rogić, Paul Pavlidis, Kurt Z. Haas · 2020 · The American Journal of Human Genetics
- Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingAlexander M. Holtz, Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin E. Torti, Jane Juusola, Francisca Millan, Richard Person, María J. Guillen Sacoto et al. · 2022 · Genetics in Medicine
- X‐Linked intellectual disability update 2022Charles E. Schwartz, Raymond J. Louie, Annick Toutain, Cindy D. Skinner, Michael J. Friez, Roger E. Stevenson · 2022 · American Journal of Medical Genetics Part A
- The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South AfricaVictoria Pattison de Menil, Michelle Hoogenhout, Patricia Kipkemoi, Dorcas Kamuya, Emma Eastman, Alice Galvin, Katini Mwangasha, Jantina de Vries, Symon M. Kariuki, Serini Murugasen et al. · 2019 · Neuron
- Role of Ash1l in Tourette syndrome and other neurodevelopmental disordersCheng Zhang, Lulu Xu, Xueping Zheng, Shiguo Liu, Fengyuan Che · 2020 · Developmental Neurobiology
- MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Qian Li, Haoran Liu, Liang Chen, Joel A. Morales‐Rosado, Ana S.A. Cohen et al. · 2024 · The American Journal of Human Genetics
- Exome sequencing identifies genes associated with sleep-related traitsChen-Jie Fei, Ze-Yu Li, Jing Ning, Liu Yang, Bang‐Sheng Wu, Jujiao Kang, Weishi Liu, Xiao‐Yu He, Jia You, Shi-Dong Chen et al. · 2024 · Nature Human Behaviour
- CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmiaXiao‐Rong Liu, Ting‐Ting Ye, Wen‐Jun Zhang, Xuan Guo, Jie Wang, Shaoping Huang, Longshan Xie, Xing‐Wang Song, Wei‐Wen Deng, Bing-Mei Li et al. · 2021 · CNS Neuroscience & Therapeutics
- De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsySheng Luo, Wen‐Jun Zhang, Mi Jiang, Rong-Na Ren, Lei Liu, Yulan Li, Wenhui Liu, Pengyu Wang, Yujie Gu, Li‐Zhi Chen et al. · 2025 · Epilepsia
- The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndromeChun‐An Chen, Emeline Crutcher, Harinder Gill, Tanya N. Nelson, Laurie A. Robak, Marjolijn C.J. Jongmans, Rolph Pfundt, Chitra Prasad, Roberta Audrey Berard, Madeleine Fannemel et al. · 2020 · Human Mutation
- An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 geneKornélia Tripolszki, Erina Sasaki, Ronja Hotakainen, Abdul Halim Kassim, Catarina Pereira, Arndt Rolfs, Peter Bauer, William Reardon, Aida Maria Bertoli‐Avella · 2020 · Clinical Genetics
- Overcoming constraints on the detection of recessive selection in human genes from population frequency dataDaniel J. Balick, Daniel M. Jordan, Shamil R. Sunyaev, Ron Do · 2021 · The American Journal of Human Genetics
- The genetics of autism and steroid-related traits in prenatal and postnatal lifeAlex Tsompanidis, Varun Warrier, Simon Baron‐Cohen · 2023 · Frontiers in Endocrinology
- A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusAmrita K. Singh, Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma, Shujuan Zhao, Kedous Y. Mekbib, John Shohfi, Phan Q. Duy et al. · 2023 · Brain
- Advancing psychiatric genetics through dissecting heterogeneityKaren Hodgson, Peter McGuffin, Cathryn M. Lewis · 2017 · Human Molecular Genetics
- Convergence and Divergence in the Genetics of Psychiatric Disorders From Pathways to Developmental StagesShahar Shohat, Alana Amelan, Sagiv Shifman · 2020 · Biological Psychiatry
- Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disordersHoang T Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M Huckins, Ana B. Muñoz‐Manchado, Douglas M Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
- Gene family information facilitates variant interpretation and identification of disease-associated genesDennis Lal, Patrick May, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke Steensbjerre Møller, Roland Krause, Peter Nüernberg, Sarah Weckhuysen, Peter De Jonghe et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
- Novel variant in the CNNM2 gene associated with dominant hypomagnesemiaAlejandro García‐Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejía, Jenny Ponce, Sara Gómez‐Conde, Gustavo Pérez de Nanclares, Ana B. de la Hoz, Rosa Martı́nez, Laura Saso et al. · 2020 · PLoS ONE
- Autism-Associated Vigilin Depletion Impairs DNA Damage RepairShahid Banday, RAJ KUMAR PANDITA, Arjamand Mushtaq, Albino Bacolla, Ulfat Syed Mir, Dharmendra Kumar Singh, Sadaf Jan, Krishna Bhat, Clayton R. Hunt, Ganesh Rao et al. · 2021 · Molecular and Cellular Biology
- Epidural labour analgesia and autism spectrum disorder: is the current evidence sufficient to dismiss an association?Alexander J. Butwick, Daniel Arthur Abrams, Cynthia A. Wong · 2022 · British Journal of Anaesthesia
- TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delayJennifer Hanson, Daniel Brezavar, Susan Starling Hughes, Shivarajan Manickavasagam Amudhavalli, Emily Fleming, Dihong Zhou, Joseph T. Alaimo, Penelope E. Bonnen · 2021 · Clinical Genetics
- Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their functionManuel Casanova, Andrew E. Switala, Srini Dandamudi, Allison R. Hickman, Joshua P. Vandenbrink, Julia L. Sharp, Frank Alex Feltus, Manuel Fernando Casanova · 2019 · Autism Research
- Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and ReviewShahad Abdulaziz AlSaif, Muhammad Umair, Majid Alfadhel · 2019 · Journal of Central Nervous System Disease
- ASH1L mutation caused seizures and intellectual disability in twin sistersHailing Liu, De-Tian Liu, Song Lan, Yanlian Yang, Jingjing Huang, Jinbo Huang, Ling Fang · 2021 · Journal of Clinical Neuroscience
- A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotypePaolo Fontana, Monia Ginevrino, Kristel Bejo, Giuseppina Cantalupo, Maria Ciavarella, Cinzia Lombardi, Marianna Maioli, Francesca Scarano, Claudia Costabile, Antonio Novelli et al. · 2021 · European Journal of Medical Genetics
- Evolution and dysfunction of human cognitive and social traits: A transcriptional regulation perspectiveRoman Zug, Tobias Uller · 2022 · Evolutionary Human Sciences
- Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndromeEissa Faqeih, Malak Ali Alghamdi, Marwa A. Almahroos, Essa Alharby, Makki Almuntashri, Amnah M. Alshangiti, Clément Prouteau, Daniel G. Calame, Leila Qebibo, Lydie Bürglen et al. · 2022 · Genetics in Medicine
- Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencingVijay R. Gupta, Afif Ben‐Mahmoud, Bonsu Ku, Dinesh Velayutham, Zainab Jan, Abdi Aden, Ahmad Kubbar, Fouad A. W. Alshaban, Lawrence Walter Stanton, Puthen Veettil Jithesh et al. · 2023 · Frontiers in Psychiatry
- A Path to Implement Precision Child Health Cardiovascular MedicineMarlin Touma, Brian L. Reemtsen, Nancy J. Halnon, Juan Carlos Alejos, J. Paul Finn, Stanley F. Nelson, Yibin Wang · 2017 · Frontiers in Cardiovascular Medicine
- Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum DisorderYanjie Fan, Xiujuan Du, Xin Liu, Lili Wang, Fei Ran Li, Yongguo Yu · 2018 · Frontiers in Genetics
- Differences in Cognition and Behaviour in Multiplex and Simplex Autism: Does Prior Experience Raising a Child with Autism Matter?Daniel Berends, Cheryl Dissanayake, Lauren P. Lawson · 2019 · Journal of Autism and Developmental Disorders
- Gene discoveries in autism are biased towards comorbidity with intellectual disabilityMatthew Jensen, Corrine Smolen, Santhosh Girirajan · 2020 · Journal of Medical Genetics
- Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disordersFengyu Che, Xiaoling Tie, Lei Hong, Xi Zhang, Mingyue Duan, Liyu Zhang, Ying Yang · 2022 · Frontiers in Molecular Neuroscience
- Pathogenicity of De Novo Rare VariantsArya Mani · 2017 · Circulation Cardiovascular Genetics
- Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disordersJoanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae et al. · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case reportLaura E. Schultz‐Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan C. Lanpher · 2020 · BMC Medical Genetics
- Metallomic profiling and natural copper isotopic signatures of childhood autism in serum and red blood cellsWeibo Ling, Gang Zhao, Weichao Wang, Chao Wang, Luyao Zhang, Huazhou Zhang, Dawei Lü, Shasha Ruan, Aiqian Zhang, Qian S. Liu et al. · 2023 · Chemosphere
- PLXNA2 and LRRC40 as candidate genes in autism spectrum disorderJordi Pijuan, Juan Darío Ortigoza‐Escobar, Juan Ortiz, A. Molina Alcalá, Maria Clara Costa Calvo, Mariona Cubells, Cristina Hernando‐Davalillo, Francesc Palau, Janet Hoenicka · 2021 · Autism Research
- Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case reportXin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du, Jian Tang · 2021 · BMC Pediatrics
- Genetic correlates of phenotypic heterogeneity in autism2020
- Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorderJae Hyun Kim, In Gyeong Koh, Hyeji Lee, Gang‐Hee Lee, Da‐Yea Song, Soowhee Kim, Yu‐Jin Kim, Jae Hyun Han, Guiyoung Bong, Jeewon Lee et al. · 2024 · Psychiatry and Clinical Neurosciences
- Integrating brain methylome with GWAS for psychiatric risk gene discoveryShizhong Han, Ying Lin, Minghui Wang, Fernando S. Goes, Kai Tan, Peter P. Zandi, Thomas M. Hyde, Daniel R. Weinberger, James B. Potash, Joel E. Kleinman et al. · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- The landscape of regional missense mutational intolerance quantified from 730,947 exomesLily Wang, Katherine R. Chao, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H. Grant, Jack A. Kosmicki et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Whole-genome sequencing identifies novel genes for autism in Chinese triosSuhua Chang, Jia Jia Liu, Yilu Zhao, Tao Pang, Xiangyu Zheng, Zhirui Song, Anyi Zhang, Xuping Gao, Lingxue Luo, Yanqing Guo et al. · 2024 · Science China Life Sciences
- Complex Diagnostics of Non-Specific Intellectual Developmental DisorderOlga A. Levchenko, Дадали Елена Леонидовна, Л. А. Бессонова, Nina Demina, Galina E. Rudenskaya, Galina Matyushchenko, Т. В. Маркова, Inga V. Anisimova, Natalia A. Semenova, Olga Shchagina et al. · 2022 · International Journal of Molecular Sciences
- A de novo TOP2B variant associated with global developmental delay and autism spectrum disorderTakuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu · 2020 · Molecular Genetics & Genomic Medicine
- Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders et al. · 2024 · Annals of Neurology
- High-Risk, High-Reward Genetics in ASDChristina A. Castellani, Dan E. Arking · 2020 · Neuron
- Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa—An in-silico studyDillon Mintoff, Nikolai Paul Pace, Isabella Borg · 2022 · Frontiers in Genetics