Genomic strategies to untangle the etiology of autism: A primer

Authors: Vashisth, Shayal, Chahrour, Maria H.

Source: Autism research. 16(1):31-39

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172963169.0x000001&indx=1&recIds=ETOCvdc_100172963169.0x000001

The genetics of autism spectrum disorder in an East African familial cohort

Authors: Tuncay, Islam Oguz, DeVries, Darlene, Gogate, Ashlesha, Kaur, Kiran, Kumar, Ashwani, Xing, Chao, Goodspeed, Kimberly, Seyoum-Tesfa, Leah, Chahrour, Maria H.

Source: In Cell Genomics 12 July 2023 3(7)

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Authors: Gogate, Ashlesha, Kaur, Kiran, Khalil, Raida, Bashtawi, Mahmoud, Morris, Mary Ann, Goodspeed, Kimberly, Evans, Patricia, Chahrour, Maria H.

Source: NPJ Genomic Medicine; 12/26/2024, Vol. 9 Issue 1, p1-22, 22p

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Authors: Cheon, Solmi, Kaur, Kiran, Nijem, Nadine, Tuncay, Islam Oguz, Kumar, Pooja, Dean, Milan, Juusola, Jane, Guillen-Sacoto, Maria J., Bedoukian, Emma, Ierardi-Curto, Lynne, Kaplan, Paige, Schaefer, G. Bradley, Mishra, Prashant, Chahrour, Maria H.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 Feb . 116(9), 3662-3667.

Access URL: https://www.jstor.org/stable/26672116

Deciphering the impact of genomic variation on function.

Authors: Engreitz, Jesse M., Lawson, Heather A., Singh, Harinder, Starita, Lea M., Hon, Gary C., Carter, Hannah, Sahni, Nidhi, Reddy, Timothy E., Lin, Xihong, Li, Yun, Munshi, Nikhil V., Chahrour, Maria H., Boyle, Alan P., Hitz, Benjamin C., Mortazavi, Ali, Craven, Mark, Mohlke, Karen L., Pinello, Luca, Wang, Ting, Kundaje, Anshul

Source: Nature; Sep2024, Vol. 633 Issue 8028, p47-57, 11p

Insights Into DDX3X Syndrome From a Novel Mouse Model With Construct and Face Validity

Authors: Vashisth, Shayal, Chahrour, Maria H.

Source: Biological psychiatry. 90(11):732-734

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152298759.0x000001&indx=1&recIds=ETOCvdc_100152298759.0x000001

RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

Authors: Rios, Jonathan J., Li, Yang, Paria, Nandina, Bohlender, Ryan J., Huff, Chad, Rosenfeld, Jill A., Liu, Pengfei, Bi, Weimin, Haga, Kentaro, Fukuda, Mitsunori, Vashisth, Shayal, Kaur, Kiran, Chahrour, Maria H., Bober, Michael B., Duker, Angela L., Ladha, Farah A., Hanchard, Neil A., Atala, Kristhen, Khanshour, Anas M., Smith, Linsley, Wise, Carol A., Delgado, Mauricio R.

Source: In The American Journal of Human Genetics 7 December 2023 110(12):2103-2111

Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations

Authors: Rollins, Nancy K., Booth, Timothy N., Chahrour, Maria H.

Source: Journal of child neurology. 32(3):271-285

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN610066080&indx=1&recIds=ETOCRN610066080

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

Authors: Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos

Source: Scientific reports. 10(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174658681.0x000001&indx=1&recIds=ETOCvdc_100174658681.0x000001

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Authors: Yu, Timothy W., Chahrour, Maria H., Coulter, Michael E., Jiralerspong, Sarn, Okamura-Ikeda, Kazuko, Ataman, Bulent, Schmitz-Abe, Klaus, Harmin, David A., Adli, Mazhar, Malik, Athar N., D’Gama, Alissa M., Lim, Elaine T., Sanders, Stephan J., Mochida, Ganesh H., Partlow, Jennifer N., Sunu, Christine M., Felie, Jillian M., Rodriguez, Jacqueline, Nasir, Ramzi H., Ware, Janice, Joseph, Robert M., Hill, R. Sean, Kwan, Benjamin Y., Al-Saffar, Muna, Mukaddes, Nahit M., Hashmi, Asif, Balkhy, Soher, Gascon, Generoso G., Hisama, Fuki M., LeClair, Elaine, Poduri, Annapurna, Oner, Ozgur, Al-Saad, Samira, Al-Awadi, Sadika A., Bastaki, Laila, Ben-Omran, Tawfeg, Teebi, Ahmad S., Al-Gazali, Lihadh, Eapen, Valsamma, Stevens, Christine R., Rappaport, Leonard, Gabriel, Stacey B., Markianos, Kyriacos, State, Matthew W., Greenberg, Michael E., Taniguchi, Hisaaki, Braverman, Nancy E., Morrow, Eric M., Walsh, Christopher A.

Source: In Neuron 23 January 2013 77(2):259-273

DFNB44, a Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus, Maps to Chromosome 7p14.1-q11.22

Authors: Ansar, Muhammad, Chahrour, Maria H., Din, Mohammad Amin ud, Arshad, Muhammad, Haque, Sayedul, Pham, Thanh L., Yan, Kai, Ahmad, Wasim, Leal, Suzanne M.

Source: Human Heredity, 2004 Jan 01. 57(4), 195-199.

Access URL: https://www.jstor.org/stable/48506584

Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Authors: Gogate, Ashlesha, Kaur, Kiran, Khalil, Raida, Bashtawi, Mahmoud, Morris, Mary Ann, Goodspeed, Kimberly, Evans, Patricia, Chahrour, Maria H.

Source: NPJ Genomic Medicine; 12/26/2024, Vol. 9 Issue 1, p1-1, 1p

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

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

Source: NPJ Genomic Medicine; 2/21/2022, Vol. 7 Issue 1, p1-13, 13p

Genetics of Autism Spectrum Disorder: Searching for the Rare to Explain the Common

Authors: Tuncay, Islam Oguz, Chahrour, Maria H.

Source: In Reference Module in Neuroscience and Biobehavioral Psychology 2017

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism.

Authors: Chahrour, Maria H.^1,2,3,4,5, Yu, Timothy W.^1,2,3,4,5,6, Lim, Elaine T.^5,7,8, Ataman, Bulent⁹, Coulter, Michael E.¹, Hill, R. Sean^1,2,3, Stevens, Christine R.⁵, Schubert, Christian R.^1,2,3,4,5, Greenberg, Michael E.⁹, Gabriel, Stacey B.⁵, Walsh, Christopher A.^1,2,3,4,5,6 christopher.walsh@childrens.harvard.edu

Source: PLoS Genetics. Apr2012, Vol. 8 Issue 4, Special section p1-9. 9p. 1 Diagram, 3 Charts, 2 Graphs.

Subject Terms: *AUTISM research, *HOMOZYGOSITY, *CYTOSKELETON, *GENETIC mutation, *PATHOGENIC microorganisms

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Synaptic, transcriptional and chromatin genes disrupted in autism.

Authors: De Rubeis, Silvia, Poultney, Christopher S., Kou, Yan, Fu, Shih-Chen, Brownfeld, Jessica M., Cai, Jinlu, Aleksic, Branko, Ozaki, Norio, Biscaldi, Monica, Bolton, Patrick F., Curran, Sarah R., Campbell, Nicholas G., Crawford, Emily L., Sutcliffe, James S., Carracedo, Angel, Chahrour, Maria H., Sean Hill, R., Yu, Timothy W., Walsh, Christopher A., Chiocchetti, Andreas G.

Source: Nature. 11/13/2014, Vol. 515 Issue 7526, p209-215. 7p.

Subjects: HUMAN chromatin, AUTISM spectrum disorders, MOLECULAR structure of chromatin, HISTONE methylation, SYNAPTOGENESIS, GENE regulatory networks, GENETICS

PSMD12haploinsufficiency in a neurodevelopmental disorder with autistic features

Authors: Khalil, Raida, Kenny, Connor, Hill, R. Sean, Mochida, Ganeshwaran H., Nasir, Ramzi, Partlow, Jennifer N., Barry, Brenda J., Al‐Saffar, Muna, Egan, Chloe, Stevens, Christine R., Gabriel, Stacey B., Barkovich, A. James, Ellison, Jay W., Al‐Gazali, Lihadh, Walsh, Christopher A., Chahrour, Maria H.

Source: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; December 2018, Vol. 177 Issue: 8 p736-745, 10p

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