| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lin Yin, Yalan Xu, Jie Mu, Yu Leng, Lei Ma, Yu Zheng, Ruizhi Li, Yin Wang, Peifeng Li, Hai Zhu, Dong Wang, Jing L. CNKSR2 interactome analysis indicates its association with the centrosome/microtubule system. Neural regeneration research. vol 20. issue 8. 2024-10-03. PMID:39359098. |
furthermore, we found that cnksr2 interactors were highly enriched in de novo variants associated with intellectual disability and autism spectrum disorder. |
2024-10-03 |
2024-10-05 |
mouse |
| Annelien Marcelis, Evelyne Van Ree. A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry. Case reports in psychiatry. vol 2024. 2024-10-03. PMID:39359715. |
while intellectual disability is often described in the literature on kif11 mutations, autism spectrum disorder (asd) and attention-deficit/hyperactivity disorder (adhd) are only mentioned by a few authors but not thoroughly investigated. |
2024-10-03 |
2024-10-05 |
Not clear |
| Nada Amllal, Jaber Lyahyai, Siham Chafai Elalaoui, Youssef El Kadiri, Abdelaziz Sefian. Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report. Molecular syndromology. vol 15. issue 5. 2024-10-03. PMID:39359953. |
novel splice site pathogenic variant in stxbp1 gene in a child with intellectual disability, epilepsy, and autism spectrum disorder: a case report. |
2024-10-03 |
2024-10-05 |
Not clear |
| Melinda Moseley-Alldredge, Caroline Aragón, Marcus Vargus, Divya Alley, Nirali Somia, Lihsia Che. The L1CAM SAX-7 is an antagonistic modulator of Erk Signaling. bioRxiv : the preprint server for biology. 2024-09-30. PMID:39345534. |
in addition to being associated with the autism and schizophrenia spectrum disorders, mutations in the l1cam family of genes also underlie distinct developmental syndromes with neurological conditions, such as intellectual disability, spastic paraplegia, hypotonia and congenital hydrocephalus. |
2024-09-30 |
2024-10-02 |
Not clear |
| Wu Mengnan, Cheng Yan, Xu Qiong, Xiong Ma. Generation of a human induced pluripotent stem cell line (FDIBSi001-A) from a patient with ADNP syndrome carrying ADNP mutation (c. 2059 T>C). Stem cell research. vol 81. 2024-09-22. PMID:39307104. |
adnp syndrome is a neurodevelopmental disorder characterized by autism, intellectual disability, and other physical and behavioral health manifestations. |
2024-09-22 |
2024-09-26 |
human |
| Danai Katsanevaki, Sally M Till, Ingrid Buller-Peralta, Mohammad Sarfaraz Nawaz, Susana R Louros, Vijayakumar Kapgal, Shashank Tiwari, Darren Walsh, Natasha J Anstey, Nina G Petrović, Alison Cormack, Vanesa Salazar-Sanchez, Anjanette Harris, William Farnworth-Rowson, Andrew Sutherland, Thomas C Watson, Siyan Dimitrov, Adam D Jackson, Daisy Arkell, Suryanarayan Biswal, Kosala N Dissanayake, Lindsay A M Mizen, Nikolas Perentos, Matt W Jones, Michael A Cousin, Sam A Booker, Emily K Osterweil, Sumantra Chattarji, David J A Wyllie, Alfredo Gonzalez-Sulser, Oliver Hardt, Emma R Wood, Peter C Kin. Key roles of C2/GAP domains in SYNGAP1-related pathophysiology. Cell reports. vol 43. issue 9. 2024-09-13. PMID:39269903. |
mutations in syngap1 are a common genetic cause of intellectual disability (id) and a risk factor for autism. |
2024-09-13 |
2024-09-16 |
rat |
| Arohi Vardhan, Avinash Kamath, Savitha Soman, Anil Kumar M Nagaraj, Vivekananda Bhat, Rashmi Vishwanat. AUTS2 variant in a child diagnosed with autism spectrum disorder and intellectual disability disorder, a case report. Indian journal of psychiatry. vol 66. issue 7. 2024-09-11. PMID:39257499. |
auts2 variant in a child diagnosed with autism spectrum disorder and intellectual disability disorder, a case report. |
2024-09-11 |
2024-09-13 |
Not clear |
| Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L Thompson, E Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A Silverman, Stephen C Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkam. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. Nature communications. vol 15. issue 1. 2024-09-10. PMID:39256359. |
variants in lrrc7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. |
2024-09-10 |
2024-09-13 |
Not clear |
| Angela John Thurman, Amanda Dimachkie Nunnally, Vivian Nguyen, Elizabeth Berry-Kravis, Audra Sterling, Jamie Edgin, Debra Hamilton, Jeannie Aschkenasy, Leonard Abbedut. Short-term and Long-term Stability of the Autism Diagnostic Observation Schedule (ADOS-2) Calibrated Comparison Scores (CCS) and Classification Scores in Youth with Down Syndrome or Fragile X Syndrome with Intellectual Disability. Journal of autism and developmental disorders. 2024-09-09. PMID:39251531. |
short-term and long-term stability of the autism diagnostic observation schedule (ados-2) calibrated comparison scores (ccs) and classification scores in youth with down syndrome or fragile x syndrome with intellectual disability. |
2024-09-09 |
2024-09-13 |
Not clear |
| Angela John Thurman, Amanda Dimachkie Nunnally, Vivian Nguyen, Elizabeth Berry-Kravis, Audra Sterling, Jamie Edgin, Debra Hamilton, Jeannie Aschkenasy, Leonard Abbedut. Short-term and Long-term Stability of the Autism Diagnostic Observation Schedule (ADOS-2) Calibrated Comparison Scores (CCS) and Classification Scores in Youth with Down Syndrome or Fragile X Syndrome with Intellectual Disability. Journal of autism and developmental disorders. 2024-09-09. PMID:39251531. |
autism diagnosis in individuals with fragile x syndrome (fxs) or down syndrome (ds) with co-occurring intellectual disability is complex since clinicians often must consider other co-occurring behavioral features. |
2024-09-09 |
2024-09-13 |
Not clear |
| Rajan K C, Nehal R Patel, Abbigail N Thurmon, Maryann G Lorino, Alina S Tiemroth, Isabella Kulstad, Vivianne Morrison, Mauren Akumuo, Anoushka Shenoy, Stryder M Meadows, Maria J Galaz. Loss of Zmiz1 in mice leads to impaired cortical development and autistic-like behaviors. bioRxiv : the preprint server for biology. 2024-08-30. PMID:39211117. |
human genetic studies have recently identified zmiz1 and its de novo mutations as causal of a neurodevelopmental syndrome strongly associated with intellectual disability, autism, adhd, microcephaly, and other developmental anomalies. |
2024-08-30 |
2024-09-04 |
mouse |
| Borja Laña, Nerea Crespo-Eguilaz, Rocío Sánchez-Carpinter. The profile of social communication in Dravet syndrome. Epilepsy & behavior : E&B. vol 159. 2024-08-29. PMID:39208587. |
this study focused on comprehensively evaluating and comparing social communication profiles among a group of 43 children with dravet syndrome, 30 children with level 1 autism spectrum disorder, 36 with social (pragmatic) communication disorder, and 18 with intellectual disability. |
2024-08-29 |
2024-09-04 |
Not clear |
| Zhuangzhuang Geng, Yen Teng Tai, Qiang Wang, Zhonghua Ga. AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/β-catenin pathway. Scientific reports. vol 14. issue 1. 2024-08-22. PMID:39174599. |
individuals with the autism susceptibility candidate 2 (auts2) gene disruptions exhibit symptoms such as intellectual disability, microcephaly, growth retardation, and distinct skeletal and facial differences. |
2024-08-22 |
2024-08-25 |
human |
| b' Emily F Ferguson, Emily Spackman, Ru Ying Cai, Antonio Y Hardan, Mirko Uljarevi\\xc4\\x8. Characterizing associations between emotion dysregulation, anxiety, and repetitive behaviors in autistic youth with intellectual disability. Autism research : official journal of the International Society for Autism Research. 2024-08-21. PMID:39166396.' |
there is a paucity of research that explores associations between emotion dysregulation and the expression and severity of core and co-occurring characteristics of autism spectrum disorder (asd), especially in autistic youth with co-occurring intellectual disability (id). |
2024-08-21 |
2024-08-23 |
Not clear |
| Nadja Bednarczuk, Harriet Housby, Irene O Lee, Imagine Consortium, David Skuse, Jeanne Wolstencrof. Behavioural and neurodevelopmental characteristics of SYNGAP1. Journal of neurodevelopmental disorders. vol 16. issue 1. 2024-08-15. PMID:39148034. |
syngap1 variants are associated with varying degrees of intellectual disability (id), developmental delay (dd), epilepsy, autism, and behavioural difficulties. |
2024-08-15 |
2024-08-18 |
Not clear |
| Ariela S Buxbaum Grice, Laura Sloofman, Tess Levy, Hannah Walker, Gauri Ganesh, Miguel Rodriguez de Los Santos, Pardis Amini, Joseph D Buxbaum, Alexander Kolevzon, Ana Kostic, Michael S Bree. Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome. Translational psychiatry. vol 14. issue 1. 2024-07-25. PMID:39054328. |
activity-dependent neuroprotective protein (adnp) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (asd) and is due to mutations in the adnp gene. |
2024-07-25 |
2024-07-28 |
Not clear |
| Dana T Byrd, Ziyuan Christina Han, Christopher A Piggott, Yishi Ji. PACS-1 variant protein is aberrantly localized in C. elegans model of PACS1/PACS2 syndromes. Genetics. 2024-07-20. PMID:39031646. |
pacs1, pacs2, and wdr37 variants are associated with multisystemic syndromes and neurodevelopmental disorders characterized by intellectual disability, seizures, developmental delays, craniofacial abnormalities, and autism spectrum disorder. |
2024-07-20 |
2024-07-24 |
human |
| Majid Zaki-Dizaji, Mohammad Foad Abazari, Hossein Razzaghi, Irene Shkolnikov, Brian R Christi. GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients. Brain, behavior, & immunity - health. vol 39. 2024-07-10. PMID:38983774. |
it is encoded by grm7, and recently variants have been identified in patients with autism spectrum disorder (asd), attention deficit hyperactivity disorder (adhd), developmental delay (dd), intellectual disability (id), and brain malformations. |
2024-07-10 |
2024-07-12 |
Not clear |
| Damek R Homiack, Lulu E Yan, Luke G Petry, Jenifer R Lloyd, Fedra Najjar, Edwin H Coo. Successful Electroconvulsive Therapy in a Patient With Catatonia and Maternal Duplication 15q11-13 Syndrome. The journal of ECT. 2024-07-05. PMID:38968439. |
in this case report, we describe the treatment course of a patient with established maternal dup 15q with comorbid intellectual disability, autism spectrum disorder, bipolar mood disorder, and juvenile epilepsy who developed hypokinetic catatonia refractory to high-dose benzodiazepine therapy. |
2024-07-05 |
2024-07-08 |
Not clear |
| Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A Rosenfeld, Seema R Lalani, Haley Streff, R Frank Kooy, Sarah Weckhuyse. Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. European journal of human genetics : EJHG. 2024-07-04. PMID:38965372. |
our findings add additional evidence for leo1 as a risk gene for autism and intellectual disability. |
2024-07-04 |
2024-07-11 |
Not clear |