المؤلفون: Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

المصدر: npj Genomic Medicine, Vol 10, Iss 1, Pp 1-11 (2025)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/f4705ebc751746b182f80da21f045925

المؤلفون: Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg, Cidi Chen, Elizabeth D. Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W. Scherer

المصدر: Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 638-647 (2024)

مصطلحات موضوعية: Induced pluripotent stem cells (iPSCs), Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR), Genome editing, Whole genome sequencing (WGS), Off-target detection, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S200103702300510X; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/fce05ccaaede435b84e6e74474bfe7f5

المؤلفون: Si Lok, Timothy N. H. Lau, Brett Trost, Amy H. Y. Tong, Tara Paton, Richard F. Wintle, Mark D. Engstrom, Anne Gunn, Stephen W. Scherer

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Ovibos moschatus, Muskox, Umingmak, Continuous long read, Chromosomal-level assembly, Climate adaption, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/7c530920e7624924a0cb307d81999c43

المؤلفون: Jane Summers, Danielle Baribeau, Polina Perlman, Ny Hoang, Sunny Cui, Aneta Krakowski, Patricia Ambrozewicz, Ariel Ho, Thanuja Selvanayagam, Kinga A. Sándor-Bajusz, Katrina Palad, Nishi Patel, Sarah McGaughey, Louise Gallagher, Stephen W. Scherer, Peter Szatmari, Jacob Vorstman

المصدر: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Interdisciplinary clinic, Psychiatry, Psychology, Genetics, Neurodevelopmental disorder, Mental health, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/ca9ed78208374a51947780212627862f

المؤلفون: Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein, Najwa Albashir, Amal Hussein, Ilaria Poggiolini, Saba F. Elhag, Sasirekha Palaniswamy, Marios Kambouris, Maria de Fatima Janjua, Mohamed O. El Tahir, Ahsan Nazeer, Durre Shahwar, Muhammad Waqar Azeem, Younes Mokrab, Nazim Abdel Aati, Ammira Akil, Stephen W. Scherer, Madeeha Kamal, Khalid A. Fakhro

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Autism spectrum disorder, ASD, BARAKA cohort, ASD risk genes, De novo variants, Whole genome sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/05529e45040b4a24a408cfbaedbd8c6f

المؤلفون: Matthieu, Barreau, W., Scherer Carsten, Frederic, Gouaisbaut, Alexandre, Seuret

المصدر: IFAC WC 2020, Berlin

مصطلحات موضوعية: Mathematics - Optimization and Control, Mathematics - Analysis of PDEs

URL الوصول: http://arxiv.org/abs/2003.06283

المؤلفون: Miriam S. Reuter, Dustin J. Sokolowski, J. Javier Diaz-Mejia, Johannes Keunen, Barbra de Vrijer, Cadia Chan, Liangxi Wang, Greg Ryan, David A. Chiasson, Troy Ketela, Stephen W. Scherer, Michael D. Wilson, Edgar Jaeggi, Rajiv R. Chaturvedi

المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/8284083b8cd142eb97e9e9c59d7a03d6

المؤلفون: Chad O. Brown, Jarryll A. Uy, Nadeem Murtaza, Elyse Rosa, Alexandria Alfonso, Biren M. Dave, Savannah Kilpatrick, Annie A. Cheng, Sean H. White, Stephen W. Scherer, Karun K. Singh

المصدر: Frontiers in Cellular Neuroscience, Vol 17 (2024)

مصطلحات موضوعية: sodium channel, autism, human neuron, synapse, dendrite, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2023.1239069/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/f6fe74ea31354341815d8ba00404d414

المؤلفون: Leo McKay, Berardino Petrelli, Molly Pind, James N. Reynolds, Richard F. Wintle, Albert E. Chudley, Britt Drögemöller, Abraham Fainsod, Stephen W. Scherer, Ana Hanlon-Dearman, Geoffrey G. Hicks

المصدر: Biomolecules, Vol 14, Iss 5, p 569 (2024)

مصطلحات موضوعية: fetal alcohol spectrum disorder, FASD, retinoic acid, genetic variants, FASD risk outcomes, prenatal alcohol exposure, Microbiology, QR1-502

Relation: https://www.mdpi.com/2218-273X/14/5/569; https://doaj.org/toc/2218-273X; https://doaj.org/article/d3ecba3d3c3041e2b9255bc61b22cafc

الاتاحة: https://doi.org/10.3390/biom14050569
https://doaj.org/article/d3ecba3d3c3041e2b9255bc61b22cafc

المؤلفون: Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C. Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L. Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P. Joel Ross, Clarrisa A. Bradley, James Ellis, Stephen W. Scherer

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: ASD, iPSCs, DDX53, PTCHD1-AS, CRISPR, NGN2, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/ad5d028dd05343348ea7357073f240f8

المؤلفون: Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/daff05382e894c1ca9c8df1af30b6dc7

المؤلفون: André Luíz Teles e Silva, Talita Glaser, Karina Griesi-Oliveira, Juliana Corrêa-Velloso, Jaqueline Yu Ting Wang, Gabriele da Silva Campos, Henning Ulrich, Andrea Balan, Mehdi Zarrei, Edward J. Higginbotham, Stephen W. Scherer, Maria Rita Passos-Bueno, Andrea Laurato Sertié

المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/255dbd3df2934e7f9fac9cc1a130486a

المؤلفون: Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/98efc3d1863c49afbe226a84a5eb5c6f

المؤلفون: Luciana Bertholim-Nasciben, Marilia O. Scliar, Guilherme Debortoli, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Yeda A. O. Duarte, Mayana Zatz, Guilherme Suarez-Kurtz, Esteban J. Parra, Michel S. Naslavsky

المصدر: Frontiers in Pharmacology, Vol 14 (2023)

مصطلحات موضوعية: pharmacogenomics, admixture, population cohort, whole-genome sequencing, PharmGKB, CPIC guidelines, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2023.1178715/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/7ee46adbea8548ae8d92fc8f483239aa

المؤلفون: Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey Kalbfleisch, Rebekah K. Jobling, Stephen W. Scherer, Raymond H. Kim, S. Mohsen Hosseini

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Genome interpretation, Genomic variants, Genotype–phenotype correlation, Disease gene validity, Variant pathogenicity, Causative variants, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/d674837ee7fe4996b3c6b8ee73fcff1d

المؤلفون: Islam Oguz Tuncay, Nancy L. Parmalee, Raida Khalil, Kiran Kaur, Ashwani Kumar, Mohamed Jimale, Jennifer L. Howe, Kimberly Goodspeed, Patricia Evans, Loai Alzghoul, Chao Xing, Stephen W. Scherer, Maria H. Chahrour

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/d6d434712fd840fda9626e03757e5a1f

المؤلفون: Yi Liu, Yuqiang Lv, Mehdi Zarrei, Rui Dong, Xiaomeng Yang, Edward J. Higginbotham, Yue Li, Dongmei Zhao, Fengling Song, Yali Yang, Haiyan Zhang, Ying Wang, Stephen W. Scherer, Zhongtao Gai

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/3cc7a6946dcd47d187d51294852cbf97

المؤلفون: Silas Yip, Kristina Calli, Ying Qiao, Brett Trost, Stephen W. Scherer, M. E. Suzanne Lewis

المصدر: Genes, Vol 14, Iss 12, p 2122 (2023)

مصطلحات موضوعية: MYT1L, autism spectrum disorder (ASD), neurodevelopmental disorder, single nucleotide variant (SNV), de novo, whole genome sequencing (WGS), Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/14/12/2122; https://doaj.org/toc/2073-4425; https://doaj.org/article/2a76c74639314f9484caa47f3dc24fd4

الاتاحة: https://doi.org/10.3390/genes14122122
https://doaj.org/article/2a76c74639314f9484caa47f3dc24fd4

المؤلفون: Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/28825eb4a8ee44ae8a4339e8b884b577

المؤلفون: Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/54f8fe923ab549de9877b0baef9d1c16