Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 164 Records) |
| Query Trace: Developmental disorders[original query] |
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| Further delineation of phenotypic spectrum of SCN2A-related disorder. American journal of medical genetics. Part A 2021 12 188 (3): 867-877. Richardson Ruth, Baralle Diana, Bennett Christopher, Briggs Tracy, Bijlsma Emilia K, Clayton-Smith Jill, Constantinou Panayiotis, Foulds Nicola, Jarvis Joanna, Jewell Rosalyn, Johnson Diana S, McEntagart Meriel, Parker Michael J, Radley Jessica A, Robertson Lisa, Ruivenkamp Claudia, Rutten Julie W, Tellez James, Turnpenny Peter D, Wilson Valerie, Wright Michael, Balasubramanian Mee |
| Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation. Journal of autism and developmental disorders 2021 11 52 (11): 4763-4773. Ajmone Paola Francesca, Allegri Beatrice, Cereda Anna, Michelini Giovanni, Dall'Ara Francesca, Mariani Milena, Rigamonti Claudia, Selicorni Angelo, Vizziello Paola, Costantino Maria Antonel |
| Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients. Journal of autism and developmental disorders 2021 11 52 (11): 5033-5041. Qian Yanyan, Zhou Yuanfeng, Wu Bingbing, Chen Huiyao, Xu Suzhen, Wang Yao, Zhang Ping, Li Gang, Xu Qiong, Zhou Wenhao, Xu Xiu, Wang Huij |
| Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of autism and developmental disorders 2021 Nov . Du Xiaoli, Glass Jennifer Elaine, Balow Stephanie, Dyer Lisa M, Rathbun Pamela A, Guan Qiaoning, Liu Jie, Wu Yaning, Dawson D Brian, Walters-Sen Lauren, Smolarek Teresa A, Zhang Wenyi |
| Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. BMC medical genomics 2021 10 14 (1): 254. Lee Yena, Choi Yunha, Seo Go Hun, Kim Gu-Hwan, Keum Changwon, Kim Yoo-Mi, Do Hyo-Sang, Choi Jeongmin, Choi In Hee, Yoo Han-Wook, Lee Beom H |
| De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Molecular autism 2021 10 12 (1): 69. Royer-Bertrand Beryl, Jequier Gygax Marine, Cisarova Katarina, Rosenfeld Jill A, Bassetti Jennifer A, Moldovan Oana, O'Heir Emily, Burrage Lindsay C, Allen Jake, Emrick Lisa T, Eastman Emma, Kumps Camille, Abbas Safdar, Van Winckel Geraldine, , Chabane Nadia, Zackai Elaine H, Lebon Sebastien, Keena Beth, Bhoj Elizabeth J, Umair Muhammad, Li Dong, Donald Kirsten A, Superti-Furga Andr |
| Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report. Frontiers in pediatrics 2022 9 10 931667. Yu Ying, Li Cuiyun, Li Wei, Chen Liting, Wang Dan, Wang Jie, Wang Jian, Yao Ru |
| Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia pathogenesis. Psychiatric genetics 2022 Jun . Curtis Dav |
| Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study. Journal of autism and developmental disorders 2022 Jun . Hickman Allison R, Selee Bradley, Pauly Rini, Husain Benafsh, Hang Yuqing, Feltus Frank Al |
| Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population. American journal of human genetics 2022 6 109 (7): 1308-1316. Kingdom Rebecca, Tuke Marcus, Wood Andrew, Beaumont Robin N, Frayling Timothy M, Weedon Michael N, Wright Caroline |
| Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation. Journal of autism and developmental disorders 2022 5 . Chow Julie C, Hormozdiari Fereydo |
| Searching thousands of genomes to classify somatic and novel structural variants using STIX. Nature methods 2022 4 19 (4): 445-448. Chowdhury Murad, Pedersen Brent S, Sedlazeck Fritz J, Quinlan Aaron R, Layer Ryan |
| Influence of COMT (rs4680) and DRD2 (rs1076560, rs1800497) Gene Polymorphisms on Safety and Efficacy of Methylphenidate Treatment in Children with Fetal Alcohol Spectrum Disorders. International journal of environmental research and public health 2022 4 19 (8): . ?miarowska Ma?gorzata, Brzuchalski Bogus?aw, Grzywacz El?bieta, Malinowski Damian, Machoy-Mokrzy?ska Anna, Pierzchli?ska Anna, Bia?ecka Moni |
| Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease. Frontiers in cardiovascular medicine 2022 4 9 798033. Peng Rui, Li Binbin, Chen Shuxia, Shi Zhiwen, Yu Liwei, Gao Yunqian, Yang Xueyan, Lu Lei, Wang Hongy |
| Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders. Proceedings of the National Academy of Sciences of the United States of America 2022 11 119 (46): e2203491119. Wang Tianyun, Kim Chang N, Bakken Trygve E, Gillentine Madelyn A, Henning Barbara, Mao Yafei, Gilissen Christian, , Nowakowski Tomasz J, Eichler Evan |
| Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension. Journal of autism and developmental disorders 2022 11 . Wang Xiaomeng, Ling Zhengbao, Luo Tengfei, Zhou Qiao, Zhao Guihu, Li Bin, Xia Kun, Li Jinch |
| Additive or Interactive Associations of Food Allergies with Glutathione S-Transferase Genes in Relation to ASD and ASD Severity in Jamaican Children. Journal of autism and developmental disorders 2022 11 . Saroukhani Sepideh, Samms-Vaughan Maureen, Bressler Jan, Lee MinJae, Byrd-Williams Courtney, Hessabi Manouchehr, Grove Megan L, Shakespeare-Pellington Sydonnie, Loveland Katherine A, Rahbar Mohammad |
| Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype. Molecular genetics & genomic medicine 2022 11 e2117. Al Tuwaijri Abeer, Alyafee Yusra, Umair Muhammad, Alsubait Arwa, Alharbi Mashael, AlEidi Hamad, Ballow Mariam, Aldrees Mohammed, Alam Qamre, Al Abdulrahman Abdulkareem, Alrifai Muhammad Talal, Alfadhel Maj |
| Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran. Journal of autism and developmental disorders 2022 11 . Pouyan Mehr Donya, Faraji Niloofar, Rezaei Sajjad, Keshavarz Parvan |
| Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders. Frontiers in pediatrics 2023 8 11 1172154. Tania Cuppens, Julie Shatto, Loïc Mangnier, Ajay A Kumar, Andy Cheuk-Him Ng, Manpreet Kaur, Truong An Bui, Mickael Leclercq, Arnaud Droit, Ian Dunham, Francois V Bold |
| Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy. Frontiers in molecular neuroscience 2023 7 16 1205265. Jia Ye, Siyang Tang, Pu Miao, Zhefeng Gong, Qiang Shu, Jianhua Feng, Yuezhou |
| MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability. Seizure 2023 3 . Yang Jie-Hua, Liu Zhi-Gang, Liu Chun-Ling, Zhang Ming-Rui, Jia Yan-Lu, Zhai Qiong-Xiang, He Ming-Feng, He Na, Qiao Jing- |
| Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia. Molecular psychiatry 2023 3 . Lin Jhih-Rong, Zhao Yingjie, Jabalameli M Reza, Nguyen Nha, Mitra Joydeep, , Swillen Ann, Vorstman Jacob A S, Chow Eva W C, van den Bree Marianne, Emanuel Beverly S, Vermeesch Joris R, Owen Michael J, Williams Nigel M, Bassett Anne S, McDonald-McGinn Donna M, Gur Raquel E, Bearden Carrie E, Morrow Bernice E, Lachman Herbert M, Zhang Zhengdong |
| Family-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia. Molecular psychiatry 2023 3 . Rammos Alexandros, Kirov George, Hubbard Leon, Walters James T R, Holmans Peter, Owen Michael J, O'Donovan Michael C, Rees Ellio |
| Genetics Affecting the Prognosis of Dental Treatments. Dental clinics of North America 2024 9 68 (4): 659-692. Olga A Korczeniewska, Janani Dakshinamoorthy, Vaishnavi Prabhakar, Upasana Lingai |
| Genetic modifiers of rare variants in monogenic developmental disorder loci. Nature genetics 2024 4 . Rebecca Kingdom, Robin N Beaumont, Andrew R Wood, Michael N Weedon, Caroline F Wrig |
| Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders. Scientific reports 2024 4 14 (1): 8708. Emilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, V Kartik Chundru, Helen V Firth, Caroline F Wright, Matthew E Hurles, Hilary C Mart |
| Clinical application of whole exome sequencing technology in small-for-gestational-age children. American journal of translational research 2024 1 15 (12): 6813-6822. Yunyun Xie, Xiaolu Qiu, Jun Gong, Yufeng Yuan, Dan Xie, Shouming |
| Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders. Research square 2024 1 . Debora Marks, Rose Orenbuch, Aaron Kollasch, Hansen Spinner, Courtney Shearer, Thomas Hopf, Dinko Franceschi, Mafalda Dias, Jonathan Fraz |
| Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability. Clinical case reports 2025 1 13 (1): e70022. Jing Y Hsu, Daniah H Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J Ly |
- Page last reviewed:Feb 1, 2024
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