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Direct linkShemaila Saleem; Syed Hamid Habib – Review Journal of Autism and Developmental Disorders, 2024
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition. Genetic, environmental, and epigenetic variables are all likely to have a role in the occurrence of ASD. This systematic review was done to determine the implications of genetic factors and modifiers in ASD. Our results show that nearly all human chromosomes have one or more…
Descriptors: Autism Spectrum Disorders, Genetics, Genetic Disorders
Giovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental Disorders
Caryn Babaian; Sudhir Kumar – American Biology Teacher, 2024
The emerging field of genomic medicine offers an opportunity for biology and anatomy teachers to bring the topics of DNA, genetics, molecular processes, and evolution together into one experience. Through the genomic medicine paradigm, students see the unbroken connection between small biological topics such as mutations and their potential…
Descriptors: Science Education, Genetics, Diseases, Genetic Disorders
Kamara, Dana; De Boeck, Paul; Lecavalier, Luc; Neuhaus, Emily; Beauchaine, Theodore P. – Journal of Autism and Developmental Disorders, 2023
Studies of 16p11.2 copy number variants (CNVs) provide an avenue to identify mechanisms of impairment and develop targeted treatments for individuals with neurodevelopmental disorders. 16p11.2 deletion and duplication phenotypes are currently being ascertained; however, sleep disturbances are minimally described. In this study, we examine sleep…
Descriptors: Youth, Adults, Sleep, Problems
Hoh, Yin Kiong – American Biology Teacher, 2023
Gene therapy has fascinated clinicians, scientists, and patients since decades ago because of its potential to treat a disease at the genetic level. This can be achieved in many ways, including replacing a disease-causing gene with a healthy copy. Gene therapy must overcome complex tissue and cellular barriers to introduce genetic modifications…
Descriptors: Genetics, Genetic Disorders, Therapy, Diseases
Sepideh Saroukhani; Maureen Samms-Vaughan; Jan Bressler; MinJae Lee; Courtney Byrd-Williams; Manouchehr Hessabi; Megan L. Grove; Sydonnie Shakespeare-Pellington; Katherine A. Loveland; Mohammad H. Rahbar – Journal of Autism and Developmental Disorders, 2024
To investigate additive and interactive associations of food allergies with three glutathione S-transferase (GST) genes in relation to ASD and ASD severity in Jamaican children. Using data from 344 1:1 age- and sex-matched ASD cases and typically developing controls, we assessed additive and interactive associations of food allergies with…
Descriptors: Food, Allergy, Genetics, Autism Spectrum Disorders
Michael R. Capawana; Pieter J. Vuijk; Joanna Martin; Alisha R. Pollastri; Gina A. Forchelli; Georgia G. Woscoboinik; Sonia L. Tremblay; Lauren E. Wolfe; Ellen B. Braaten; Alysa E. Doyle – Journal of Attention Disorders, 2024
Objective: We leveraged common genetic variation underlying ADHD, educational attainment (EA) and cognition (COG) to understand the nature of the Behavior Rating Inventory for Executive Functions (BRIEF) and its relationship to academic functioning. Method: Participants were 991 youth, ages 7 to 17, consecutively referred for neuropsychiatric…
Descriptors: Attention Deficit Hyperactivity Disorder, Executive Function, Child Behavior, Genetics
Powell, Bradley; Van Herwegen, Jo – Journal of Autism and Developmental Disorders, 2022
This study examined individual differences as well as the development of sensory processing difficulties in children with Williams syndrome (WS) using a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). In Experiment 1, a clustering approach of sensory processing scores suggested two groups. Experiment 2 showed that the…
Descriptors: Sensory Experience, Perceptual Impairments, Genetic Disorders, Children
Ajmone, Paola Francesca; Allegri, Beatrice; Cereda, Anna; Michelini, Giovanni; Dall'Ara, Francesca; Mariani, Milena; Rigamonti, Claudia; Selicorni, Angelo; Vizziello, Paola; Costantino, Maria Antonella – Journal of Autism and Developmental Disorders, 2022
Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently, we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Intelligence Quotient, Adjustment (to Environment)
David Menendez; Andrea Marquardt Donovan; Olympia N. Mathiaparanam; Vienne Seitz; Nour F. Sabbagh; Rebecca E. Klapper; Charles W. Kalish; Karl S. Rosengren; Martha W. Alibali – Child Development, 2024
Do children think of genetic inheritance as deterministic or probabilistic? In two novel tasks, children viewed the eye colors of animal parents and judged and selected possible phenotypes of offspring. Across three studies (N = 353, 162 girls, 172 boys, 2 non-binary; 17 did not report gender) with predominantly White U.S. participants collected…
Descriptors: Childrens Attitudes, Beliefs, Genetics, Probability
Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…
Descriptors: Autism Spectrum Disorders, Children, Genetics, Intellectual Disability
Kristy J. Wilson; Allison K. Chatterjee – Biochemistry and Molecular Biology Education, 2024
Students often see college courses as the presentation of disconnected facts, especially in the life sciences. Student-created Structure Mechanism/Relationship Function (SMRF) models were analyzed to understand students' abilities to make connections between genotype, phenotype, and evolution. Students were divided into two sections; one section…
Descriptors: College Students, Genetics, Models, Classification
Gary N. Marks; Michael O'Connell – Review of Education, 2024
The first section of this paper sets the record straight regarding many of Debouwere's (2024, "Review of Education," 12, e3445) specific criticisms. The second section discusses the magnitude of the SES-achievement relationship, specifically Debouwere's (2024) contention that the correlation is strong around 0.5 or 0.6 compared to…
Descriptors: Academic Achievement, Cognitive Ability, Genetics, Socioeconomic Status
Shotwell, Mark – American Biology Teacher, 2021
Pedigree analysis has long been an essential tool in human genetics as well as a staple of genetics education. Students of genetics might be surprised to learn that human pedigrees were first popularized in the United States by proponents of eugenics, the pseudoscientific social movement aimed at improving the genetic quality of the human race.…
Descriptors: Genetics, Genetic Disorders, Social Problems, Science Activities
Chow, Julie C.; Hormozdiari, Fereydoun – Journal of Autism and Developmental Disorders, 2023
The early detection of neurodevelopmental disorders (NDDs) can significantly improve patient outcomes. The differential burden of non-synonymous de novo mutation among NDD cases and controls indicates that de novo coding variation can be used to identify a subset of samples that will likely display an NDD phenotype. Thus, we have developed an…
Descriptors: Prediction, Neurodevelopmental Disorders, Identification, Genetics
