{"id":10739,"date":"2022-07-28T20:55:47","date_gmt":"2022-07-28T20:55:47","guid":{"rendered":"https:\/\/epitomestaging.com\/tnc\/?page_id=10739"},"modified":"2026-04-06T16:52:01","modified_gmt":"2026-04-06T16:52:01","slug":"publications","status":"publish","type":"page","link":"https:\/\/epitomestaging.com\/tnc\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"

[et_pb_section fb_built=”1″ admin_label=”PUBLICATIONS HEADER” _builder_version=”4.17.4″ _module_preset=”default” background_color=”#bbe4ed” background_image=”https:\/\/epitomestaging.com\/tnc\/wp-content\/uploads\/2022\/07\/rsz-tnc-header-PUBS-1000×200-1.jpg” background_size=”initial” background_position=”top_center” width_phone=”auto” width_last_edited=”off|desktop” max_width_last_edited=”off|desktop” module_alignment=”center” min_height_tablet=”300px” min_height_last_edited=”off|desktop” height=”200px” height_tablet=”154px” height_phone=”100px” height_last_edited=”on|phone” max_height_tablet=”300px” max_height_phone=”300px” max_height_last_edited=”off|desktop” custom_margin=”0px||0px||false|false” custom_padding=”0px||0px||false|false” top_divider_height_tablet=”” top_divider_height_phone=”50px” top_divider_height_last_edited=”on|phone” bottom_divider_style=”curve” bottom_divider_color=”#FFFFFF” bottom_divider_height=”70px” bottom_divider_arrangement=”above_content” bottom_divider_height_tablet=”70px” bottom_divider_height_phone=”50px” bottom_divider_height_last_edited=”on|desktop” background_last_edited=”on|phone” background_image_phone=”https:\/\/epitomestaging.com\/tnc\/wp-content\/uploads\/2022\/02\/rsz-tnc-mobile-stars.jpg” background_enable_image_phone=”on” parallax_tablet=”off” parallax_phone=”off” background_size_tablet=”contain” background_size_phone=”initial” background_position_tablet=”top_center” background_position_phone=”top_right” module_alignment_tablet=”right” module_alignment_phone=”left” module_alignment_last_edited=”off|desktop” locked=”off” global_colors_info=”{}”][et_pb_row column_structure=”1_2,1_2″ use_custom_gutter=”on” gutter_width=”1″ _builder_version=”4.16″ _module_preset=”default” module_alignment=”center” custom_margin=”0px||||false|false” custom_padding=”0px||||false|false” global_colors_info=”{}”][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text admin_label=”Publications” _builder_version=”4.17.4″ _module_preset=”default” z_index=”10″ custom_margin=”30px||||false|false” global_colors_info=”{}”]<\/p>\n

Publications<\/h1>\n

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Featured Publication<\/h2>\n

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Nature Genetics<\/strong><\/p>\n

Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice<\/a><\/h3>\n

Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan, Alvin Hsu, Jennie C. L. Roy, Jing Zhao, Tian Yu, Ben Weisburd, Gregory A. Newby, Neil J. Doherty, Muzhou Wu, Shota Shibata, Ana Cristian, Y. Allen Tao, Liam G. Fearnley, Melanie Bahlo, Heidi L. Rehm, Jun Xie, Guangping Gao, Ricardo Mouro Pinto & David R. Liu<\/p>\n

Nat Genet. 2025 May 26. doi: 10.1038\/s41588-025-02172-8. Epub ahead of print. PMID: 40419681.<\/span><\/p>\n

doi: 10.1038\/s41588-025-02172-8<\/span><\/a>
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2026<\/h2>\n

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Molecular Psychiatry<\/strong><\/p>\n

Nitric Oxide-Mediated S-Nitrosylation of TSC2 Drives mTOR dysregulation across Shank3 and Cntnap2 Models of Autism Spectrum Disorder<\/a><\/a><\/h3>\n

Ojha, S.K., Kartawy, M., Hamoudi, W.\u00a0et al.<\/i><\/span><\/p>\n

Mol Psychiatry (2026). doi: 10.1038\/s41380-026-03514-6\u00a0\u00a0<\/span><\/p>\n

doi: 10.1038\/s41380-026-03514-6<\/span><\/a><\/p>\n

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Neurology<\/strong><\/p>\n

The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development<\/a><\/a><\/h3>\n

Dies KA, Yu TW, Chamberlin NL, Holm IA, Beggs AH, Kennedy KO, Fleming JC, Pomeroy SL, Urion DK, Srivastava S.\u00a0<\/span><\/p>\n

Neurology. 2026 Feb 10;106(3):e214610. doi: 10.1212\/WNL.0000000000214610.\u00a0\u00a0<\/span><\/p>\n

doi: 10.1212\/WNL.0000000000214610<\/span><\/a><\/p>\n

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American Journal of Medical Genetics Part A<\/span><\/strong><\/p>\n

The Infant and Toddler Developmental Profile of Kleefstra Syndrome<\/a><\/a><\/h3>\n

Shanna L. Yue,\u00a0<\/span><\/span>\u00a0Rajapillai L. I. Pillai,\u00a0<\/span><\/span>\u00a0Zo\u00eb Frazier,\u00a0<\/span><\/span>\u00a0Hailey Osika,\u00a0<\/span><\/span>\u00a0Meg Quinn,\u00a0<\/span><\/span>\u00a0Jillian O’Toole,\u00a0<\/span><\/span>\u00a0Brynn Heslin,\u00a0<\/span><\/span>\u00a0Bo Zhang,\u00a0<\/span><\/span>\u00a0Kira A. Dies,\u00a0<\/span><\/span>\u00a0Lynn Pais,\u00a0<\/span><\/span>\u00a0Anne O’Donnell-Luria,\u00a0<\/span><\/span>\u00a0Max A. Horlbeck,\u00a0<\/span><\/span>\u00a0Joe Kossowsky,\u00a0<\/span><\/span>\u00a0Jonathan Lipton,\u00a0<\/span><\/span>\u00a0Siddharth Srivastava<\/span>\u00a0<\/span><\/p>\n

American Journal of Medical Genetics Part A\u00a01<\/span>\u20136<\/span>. https:\/\/doi.org\/10.1002\/ajmga.70071.<\/span><\/p>\n

doi.org\/10.1002\/ajmga.70071<\/span><\/a><\/p>\n

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Genetics in Medicine<\/span><\/strong><\/p>\n

International Clinical Evidence-based Guideline for Kleefstra Syndrome<\/a><\/a><\/h3>\n

Bouman A, Gaasterland CMW, Sloof-Enthoven C, Draksler TZ, Rots D, Geelen JM, Morison LD, Morgan AT, Wicher D, Rivero S, Fern\u00e1ndez-Ulibarri I, Drake J, O’Donnell Luria A, Pickup L, Shalhoub C, Milani D, Hennekam RC, Tumiene B, Dies KA, Garavelli L, Bedeschi MF, Danieli A, van Renssen LV, Palmer EE, Grosdemouge I, Hadzsiev K, Ousager LB, Frazier Z, Chopra M, Szakszon K, Ewans L, Srivastava S, Balbo N, Caterino E, Schenck A, Smith R, Boonstra FN, van Till SAL, Vasireddi SK, Brian Chung HY, Klein Haneveld MJ, Vyshka K; ERN Ithaca Guideline Working group; Kleefstra T<\/span><\/p>\n

Genet Med. 2026 Jan 20:102070. doi: 10.1016\/j.gim.2026.102070. Epub ahead of print. PMID: 41578867\u00a0<\/span><\/p>\n

doi: 10.1016\/j.gim.2026.102070<\/a><\/p>\n

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Neurology<\/strong><\/p>\n

The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development<\/a><\/a><\/h3>\n

Dies KA, Yu TW, Chamberlin NL, Holm IA, Beggs AH, Kennedy KO, Fleming JC, Pomeroy SL, Urion DK, Srivastava S.\u00a0<\/span><\/p>\n

Neurology. 2026 Feb 10;106(3):e214610. doi: 10.1212\/WNL.0000000000214610.\u00a0\u00a0<\/span><\/p>\n

doi: 10.1212\/WNL.0000000000214610<\/span><\/a><\/p>\n

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[\/et_pb_text][et_pb_text _builder_version=”4.27.5″ _module_preset=”default” border_width_top=”1px” global_colors_info=”{}”]<\/p>\n

American Journal of Medical Genetics Part A<\/span><\/strong><\/p>\n

The Infant and Toddler Developmental Profile of Kleefstra Syndrome<\/a><\/a><\/h3>\n

Shanna L. Yue,\u00a0<\/span><\/span>\u00a0Rajapillai L. I. Pillai,\u00a0<\/span><\/span>\u00a0Zo\u00eb Frazier,\u00a0<\/span><\/span>\u00a0Hailey Osika,\u00a0<\/span><\/span>\u00a0Meg Quinn,\u00a0<\/span><\/span>\u00a0Jillian O’Toole,\u00a0<\/span><\/span>\u00a0Brynn Heslin,\u00a0<\/span><\/span>\u00a0Bo Zhang,\u00a0<\/span><\/span>\u00a0Kira A. Dies,\u00a0<\/span><\/span>\u00a0Lynn Pais,\u00a0<\/span><\/span>\u00a0Anne O’Donnell-Luria,\u00a0<\/span><\/span>\u00a0Max A. Horlbeck,\u00a0<\/span><\/span>\u00a0Joe Kossowsky,\u00a0<\/span><\/span>\u00a0Jonathan Lipton,\u00a0<\/span><\/span>\u00a0Siddharth Srivastava<\/span>\u00a0<\/span><\/p>\n

American Journal of Medical Genetics Part A\u00a01<\/span>\u20136<\/span>. https:\/\/doi.org\/10.1002\/ajmga.70071.<\/span><\/p>\n

doi.org\/10.1002\/ajmga.70071<\/span><\/a><\/p>\n

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Genetics in Medicine<\/span><\/strong><\/p>\n

International Clinical Evidence-based Guideline for Kleefstra Syndrome<\/a><\/a><\/h3>\n

Bouman A, Gaasterland CMW, Sloof-Enthoven C, Draksler TZ, Rots D, Geelen JM, Morison LD, Morgan AT, Wicher D, Rivero S, Fern\u00e1ndez-Ulibarri I, Drake J, O’Donnell Luria A, Pickup L, Shalhoub C, Milani D, Hennekam RC, Tumiene B, Dies KA, Garavelli L, Bedeschi MF, Danieli A, van Renssen LV, Palmer EE, Grosdemouge I, Hadzsiev K, Ousager LB, Frazier Z, Chopra M, Szakszon K, Ewans L, Srivastava S, Balbo N, Caterino E, Schenck A, Smith R, Boonstra FN, van Till SAL, Vasireddi SK, Brian Chung HY, Klein Haneveld MJ, Vyshka K; ERN Ithaca Guideline Working group; Kleefstra T<\/span><\/p>\n

Genet Med. 2026 Jan 20:102070. doi: 10.1016\/j.gim.2026.102070. Epub ahead of print. PMID: 41578867\u00a0<\/span><\/p>\n

doi: 10.1016\/j.gim.2026.102070<\/a><\/p>\n

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2025<\/h2>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=”4.20.4″ _module_preset=”default” custom_padding=”45px|||||” border_style_bottom=”none” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.5″ _module_preset=”default” border_width_top=”1px” global_colors_info=”{}”]<\/p>\n

Neurobiology of Disease<\/strong><\/p>\n

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes<\/a><\/h3>\n

Sundberg M, Shum C, Norabuena EM, Makhortova NR, Chen C, Yu L, Wightman EV, Kim K, Han SY, Howe J, Poduri A, Buttermore ED, Scherer SW, Sahin M.<\/span><\/p>\n

Neuronbiol Dis. 2025 Nov;216:107126. doi: 10.1016\/j.nbd.2025.107126\u00a0<\/span><\/p>\n

doi: 10.1016\/j.nbd.2025.107126<\/a>
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Neurobiology of Disease<\/strong><\/p>\n

Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons<\/a><\/h3>\n

Glass MR, Whye D, Anderson NC, Wood D, Makhortova NR, Polanco T, Kim KH, Donovan KE, Srinivasan GR, Vaccaro L, Jain A, Cacchiarelli D, Sun L, Olson H, Buttermore ED, Sahin M.<\/p>\n

Neurobiol Dis. 2025 Oct 15;215:107093. doi: 10.1016\/j.nbd.2025.107093\u00a0<\/span><\/p>\n

doi: 10.1016\/j.nbd.2025.107093<\/a>
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Science<\/strong><\/p>\n

<\/a>Noncanonical circuits, states, and computations of the hippocampus<\/a><\/a><\/h3>\n

Farrell, JS, Soltesz I.<\/p>\n

Science. 2025 Sep 11;389(6765):eadv4420. doi: 10.1126\/science.adv4420. Epub 2025 Sep 11. PMID: 40934322.<\/span><\/p>\n

doi: 10.1126\/science.adv4420<\/a>
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American Journal on Intellectual and Developmental Disabilities<\/strong><\/p>\n

<\/a>Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs<\/a><\/a><\/a><\/a><\/h3>\n

Levy T, Farmer C, Srivastava S, Johnson K, Trayvick J, Burne C, Massa A, Silver H, Siper PM, Zweifach J, Halpern D, Foss-Feig JH, Bernstein JA, Berry-Kravis E, Powell CM, Sahin M, Soorya LV, Thurm A, Buxbaum JD, Kolevzon A.<\/p>\n

Am J Intellect Dev Disabil. 2025 Sep 1;130(5):380-413. doi: 10.1352\/1944-7558-130.5.395. PMID: 40858310.<\/span><\/p>\n

doi: 10.1352\/1944-7558-130.5.395<\/a>
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American Journal on Intellectual and Developmental Disabilities<\/strong><\/p>\n

<\/a>\u200b\u200b<\/span><\/a>Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome<\/a><\/a><\/a><\/h3>\n

Srivastava S, Johnson K, Farmer C, Levy T, Thurm A, Valluripalli Soorya L, Filip-Dhima R, Quinlan A, Bernstein JA, Berry-Kravis E, Powell CM, Buxbaum JD, Sahin M, Kolevzon A.<\/p>\n

Am J Intellect Dev Disabil. 2025 Sep 1;130(5):380-394. doi: 10.1352\/1944-7558-130.5.380. PMID: 40858307.<\/span><\/p>\n

doi: 10.1352\/1944-7558-130.5.380<\/a>
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Clinical Genetics<\/strong><\/p>\n

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry<\/a><\/a><\/h3>\n

Callahan NC, Mahida S, Sveden A, Quinn M, Chopra M, Srivastava S; <\/span><\/p>\n

Clin Genet. 2025 Sep;108(3):279-291. doi: 10.111\/cge14746. Epub 2025 Apr 23. PMID: 40265665. <\/span><\/span><\/p>\n

doi: 10.111\/cge.14746<\/span><\/a>
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Nature Cell Biology<\/strong><\/p>\n

Ribogenesis shaping the brain<\/a><\/h3>\n

Tien Phuoc Train, Emily K Osterweil<\/p>\n

Nat Cell Biol. 2025 Aug;27(8):1202-1203. doi: 10.1038\/s41556-025-01725-7<\/span><\/p>\n

doi: 10.1038\/s41556-025-01725-7<\/span><\/a>
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Frontiers in Neuroscience<\/strong><\/p>\n

<\/a>mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons<\/a><\/a><\/h3>\n

Buttermore ED, Srinivasan GR, Jumo H, Swanson AC, O’Kelly B, Makhortova NR, Sahin M, Tzannis ST. Frazier TW, Busch RM, Klaas P, Lachlan K, Loth E, Smith-Hicks C, Sahin M, Hardan AY, Uljarevic M<\/p>\n

Front Neurosci. 2025 Jul 28;19:1595880. doi: 10.3389\/fnins.2025.1595880. PMID: 40792287; PMCID: PMC12337281.\u00a0<\/span><\/p>\n

doi: 10.3389\/fnins.2025.1595880<\/a>
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Developmental Medicine & Child Neurology<\/strong><\/p>\n

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders<\/a><\/h3>\n

Frazier TW, Busch RM, Klaas P, Lachlan K, Loth E, Smith-Hicks C, Sahin M, Hardan AY, Uljarevic M<\/p>\n

Dev Med Child Neurol. 2025 May;67(5):618-629. doi: 10.1111\/dmcn.16112. Epub 2024 Nov 11. PMID: 39526825; PMCID: PMC11965975.\u00a0<\/span><\/p>\n

doi: 10.1111\/dmcn.16112<\/a>
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Nature Genetics<\/strong><\/p>\n

Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice<\/a><\/h3>\n

Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan, Alvin Hsu, Jennie C. L. Roy, Jing Zhao, Tian Yu, Ben Weisburd, Gregory A. Newby, Neil J. Doherty, Muzhou Wu, Shota Shibata, Ana Cristian, Y. Allen Tao, Liam G. Fearnley, Melanie Bahlo, Heidi L. Rehm, Jun Xie, Guangping Gao, Ricardo Mouro Pinto & David R. Liu<\/p>\n

Nat Genet. 2025 May 26. doi: 10.1038\/s41588-025-02172-8. Epub ahead of print. PMID: 40419681.<\/span><\/p>\n

doi: 10.1038\/s41588-025-02172-8<\/span><\/a>
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eNeuro<\/strong><\/p>\n

Syngap+\/-<\/sup><\/i>\u00a0CA1 Pyramidal Neurons Exhibit Upregulated Translation of Long MRNAs Associated with LTP.<\/a><\/h3>\n

Aditi Singh, Manuela Rizzi, Sang S Seo, Emily K Osterweil<\/p>\n

eNeuro. 2025 May 19;12(5). doi: 10.1523\/ENEURO.0086-25.2025<\/span><\/p>\n

doi: 10.1523\/ENEURO.0086-25.2025<\/span><\/a>
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Sage Open Pediatrics<\/strong><\/p>\n

Development of a Patient and Caregiver-Cetnered Pediatric Disease Concept Model for Kleefstra Syndrome<\/a><\/h3>\n

Kristen L. Connors, Nikkola E. Carmichael, Terry Jo Bichell, Kira A. Dies, and Zo\u00eb J. Frazier<\/p>\n

Sage Open Pediatrics. 2025;12.; doi:10.1177\/30502225251336880<\/a><\/span><\/span><\/p>\n

doi:<\/span>10.1177\/30502225251336880<\/a>
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Cell Reports<\/strong><\/p>\n

Non-ionotropic signaling through the NMDA receptor GluN2B carboxy-terminal domain drives dendritic spine plasticity and reverses fragile X phenotypes.<\/a><\/h3>\n

Stephanie A Barnes, Aurore Thomazeau, Peter S B Finnie, Maxwell J Heinrich, Arnold J Heynen, Noburu H Komiyama, Seth G N Grant, Frank S Menniti, Emily K Osterweil, Mark F Bear<\/p>\n

Cell Rep. 2025 Mar 25;44(3):115311; doi:\u00a0<\/span>10.1016\/j.celrep.2025.115311<\/a><\/span><\/span><\/span><\/p>\n

doi:\u00a0<\/span><\/span>10.1016\/j.celrep.2025.115311<\/a><\/span><\/p>\n

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Frontiers in Neuroscience<\/strong><\/p>\n

Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders<\/a><\/h3>\n

Ziqin Yang, Nicole A Teaney, Elizabeth D Buttermore, Mustafa Sahin, Wardiya Afshar-Saber<\/p>\n

Front Neurosci. 2025 Jan 8; doi: 10.3389\/fnins.2024.1524577. PMID: 39844857<\/span><\/p>\n

doi: 10.3389\/fnins.2024.1524577<\/span><\/a>
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Nature Communications<\/strong><\/p>\n

Non-muscle myosin II inhibition at the site of axon injury increases axon regeneration<\/a><\/h3>\n

Keunjung Heo, Tammy Szu-Yu Ho, Xiangsunze Zeng, Bruna Lenfers Turnes, Maryam Arab, Selwyn Jayakar, Kuchuan Chen, Georgios Kimourtzis, Michael C Condro, Elisa Fazzari, Xuan Song , J Tabitha Hees, Zhuqiu Xu, Xirui Chen, Lee B Barrett, Laura Perrault, Roshan Pandey, Kathleen Zhang, Aparna Bhaduri, Zhigang He, Harley I Kornblum, Jed Hubbs, Clifford J Woolf<\/p>\n

Nat Commun. 2025 Mar 26; doi: 10.1038\/s41467-025-58303-6. PMID: 40140393<\/span><\/p>\n

doi: 10.1038\/s41467-025-58303-6<\/span><\/a>
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Translational Psychiatry<\/strong><\/p>\n

Shared early molecular mechanisms revleaved in P301S and 5xFAD Alzheimer’s disease mouse models<\/a><\/h3>\n

Huda Suloh , Shashank Kumar Ojha, Maryam Kartawy, Wajeha Hamoudi, Manish Kumar Tripathi, Wisam Bazbaz, Nofar Schottlender, Uri Ashery, Igor Khaliulin, Haitham Amal<\/p>\n

Transl Psychiatry. 2025 Mar 26; doi: 10.1038\/s41398-025-03321-7. PMID: 40140365<\/span><\/p>\n

doi: 10.1038\/s41398-025-03321-7<\/span><\/a>
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2024<\/h2>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=”4.20.4″ _module_preset=”default” custom_padding=”45px|||||” border_style_bottom=”none” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” border_width_top=”1px” global_colors_info=”{}”]<\/p>\n

Clinical Genetics<\/strong><\/p>\n

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients with Kleefstra Syndrome<\/a><\/h3>\n

Zo\u00eb J Frazier, Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal, Tamar Katz, A Eliot Shearer, Max A Horlbeck, Lynn S Pais, Kira A Dies, Anne O’Donnell-Luria, Joe Kossowsky, Jonathan O Lipton, Tjitske Kleefstra, Siddarth Srivastava<\/p>\n

Clin Genet. 2025 Jan 2. doi: 10.1111\/cge.14697. Epub ahead of print. PMID: 39746677.<\/span><\/p>\n

doi: 10.1111\/cge.14697<\/span><\/a>
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Developmental Cognitive Neuroscience <\/strong><\/p>\n

EEG-based brain age prediction in infants-toddlers: Implications for early detection of neurodevelopmental disorders<\/a><\/h3>\n

Winko W. An, Aprotim C. Bhowmik, Charles A. Nelson, Carol L. Wilkinson<\/span><\/p>\n

Dev Cogn Neurosci. 2024 Dec 18;71:101493<\/span>. doi: 10.1016\/j.dcn.2024.101493.<\/span>Epub ahead of print. PMID: 39721149.<\/span><\/p>\n

doi: 10.1016\/j.dcn.2024.101493.<\/span><\/a>
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Annals of Neurology<\/strong>\u00a0<\/p>\n

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders<\/a><\/h3>\n

Siddharth Srivastava, Jordan J Cole, Julie S Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A Deardorff, Ernest Pedapati, Brian Corner, Julia S Anixt, Shafali Jeste, Mustafa Sahin, Christina A Gurnett, Colleen A Campbell;<\/p>\n

Ann Neurol. 2024 Nov;96(5):900-913. doi: 10.1002\/ana.27045. Epub 2024 Sep 25.<\/p>\n

<\/span>https:\/\/doi.org\/10.1002\/ana.27045<\/a><\/span><\/p>\n

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American Journal of Medical Genetics
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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder<\/a><\/h3>\n

Isabel Haviland, Ralph D. Hector, Lindsay C. Swanson, Aubrie Soucy Verran, Emma Sherrill, Zo\u00eb Frazier, AnneMarie M. Denny, Jenna Lucash, Bo Zhang, Holly A. Dubbs, Eric D. Marsh, Judith L. Weisenberg, Helen Leonard, Milena Crippa, Francesca Cogliati, Silvia Russo, Bernhard Suter, Rajsekar Rajaraman, Alan K. Percy, John M. Schreiber, Scott Demarest, Timothy A. Benke, Maya Chopra, Timothy W. Yu, Heather E. Olson.<\/p>\n

Am J Med Genet A. 2024 Aug 28. doi: 10.1002\/ajmg.a.63843. Epub ahead of print. PMID:39205479.<\/p>\n

<\/span>https:\/\/doi.org\/10.1002\/ajmg.a.63843<\/a><\/span><\/p>\n

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Journal of Inherited Metabolic Disease
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Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency<\/a><\/h3>\n

Henry H C Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg<\/p>\n

J Inherit Metab Dis. 2024 Apr 6. doi: 10.1002\/jimd.12735. Epub ahead of print. PMID: 38581234.<\/p>\n

<\/span>https:\/\/doi.org\/10.1002\/jimd.12735<\/a><\/span><\/p>\n

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Neurobiology of Disease<\/strong><\/p>\n

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations<\/a><\/h3>\n

Santana Almansa A, Gable DL, Frazier Z, Sveden A, Quinlan A, Chopra M, Lewis SA, Kruer M, Poduri A, Srivastava S.<\/span><\/p>\n

Neurobiol Dis. 2024 Jan;190:106386. doi: 10.1016\/j.nbd.2023.106386. Epub 2023 Dec 16. PMID: 38110041.
<\/span>https:\/\/doi.org\/10.1016\/j.nbd.2023.106386<\/a><\/span><\/p>\n

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2023<\/h2>\n

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Genetics in Medicine<\/strong><\/p>\n

Clinical variants paired with phenotype: A rich resource for brain gene curation<\/a><\/h3>\n

Maya Chopra, Juliann M Savatt, Taylor I Bingaman, Molly E Good, Alexis Morgan, Caitlin Cooney, Allison M Rossel, Bryanna VanHoute, Ineke Cordova, Sonal Mahida, Virginia Lanzotti, Dustin Baldridge, Christina A Gurnett, Joseph Piven, Heather Hazlett, Scott L Pomeroy, Mustafa Sahin, Philip R O Payne, Erin Rooney Riggs, John N Constantino; Brain Gene Registry Consortium<\/p>\n

Genet Med. 2023 Dec 4:101035. doi: 10.1016\/j.gim.2023.101035. Epub ahead of print. PMID: 38059438.
<\/span>DOI: 10.1016\/j.gim.2023.101035<\/a><\/span><\/p>\n

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JAMA Pediatrics<\/strong><\/p>\n

Rare De Novo and Inherited Genes in Familial and Nonfamilial Pediatric Attention-Deficit\/Hyperactivity Disorder<\/a><\/h3>\n

Anne B Arnett, Elizabeth Harstad, Mia O’Connell, Katheryn Hayes, Stephanie Brewster, William Barbaresi, Ryan N Doan<\/p>\n

JAMA Pediatr. 2023 Nov 20:e234952.
<\/span>https:\/\/doi.org\/10.1001\/jamapediatrics.2023.4952<\/a><\/span><\/p>\n

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Therapeutic Advances in Rare Disease<\/strong><\/p>\n

Persistence of Autism Spectrum Disorder From Early Childhood Through School Age<\/a><\/h3>\n

Elizabeth Harstad, Ellen Hanson, Stephanie J Brewster, Rafael DePillis, Anna L Milliken, Gabriella Aberbach, Georgios Sideridis, William J Barbaresi<\/p>\n

JAMA Pediatr.\u00a0<\/span>Published online October 2, 2023.\u00a0
<\/span><\/span>DOI: 10.1001\/jamapediatrics.2023.4003<\/a><\/span><\/p>\n

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Therapeutic Advances in Rare Disease<\/strong><\/p>\n

Toward Representative Genomic Research: the Children\u2019s Rare Disease Cohorts Experience<\/a><\/h3>\n

Zo\u00eb J. Frazier, Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang, Abigail Sveden, Nancy L. Chamberlin, Kira A. Dies, Annapurna Poduri, Piotr Sliz and Maya Chopra on behalf of the CRDC Consortium<\/p>\n

Therapeutic Advances in Rare Disease 2023 10.1177\/263300402311814062.
<\/span>https:\/\/doi.org\/10.1177\/26330040231181406<\/a><\/span><\/p>\n

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GeneReviews<\/strong><\/p>\n

ANKRD17-Related Neurodevelopmental Syndrome <\/a>Synonym: Chopra-Amiel-Gordon Syndrome (CAGS)<\/a><\/h3>\n

Abigail Sveden<\/span>, Christopher Gordon, Jeanne Amiel<\/span>, Maya Chopra<\/span><\/p>\n

Sveden A, Gordon CT, Amiel J, et al. ANKRD17-Related Neurodevelopmental Syndrome<\/em>. 2022 Dec 22. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1116\/<\/a><\/span><\/p>\n

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Current Protocols<\/strong><\/p>\n

A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids From Human Pluripotent Stem Cells<\/a><\/h3>\n

Dosh Whye, Delaney Wood, Wardiya Afshar Saber, Erika M. Norabuena, Nina R. Makhortova, Mustafa Sahin, Elizabeth D. Buttermore<\/p>\n

Current Protocols<\/i>,\u00a0<\/span>3<\/span>, e641<\/span> (2023).
https:\/\/doi.org\/10.1002\/cpz1.641<\/a><\/p>\n

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2022<\/h2>\n

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Academic Press<\/strong><\/p>\n

Phenotyping of Human iPSC-derived Neurons: Patient-Driven Research<\/a><\/h3>\n

Edited by Elizabeth D. Buttermore<\/p>\n

Phenotyping of Human iPSC-derived Neurons<\/em>, Academic Press, 2023, ISBN 9780128222775, https:\/\/doi.org\/10.1016\/B978-0-12-822277-5.20001-1<\/a><\/p>\n

CONTRIBUTORS ><\/a>
TABLE OF CONTENTS ><\/a>
LEARN MORE ><\/a><\/p>\n

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Frontiers in Psychiatry<\/strong><\/p>\n

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons<\/a><\/h3>\n

Elizabeth D. Buttermore, Nickesha Anderson, Pin-Fang Chen, Nina R. Makhortova, Kristina H. Kim, Syed M. A. Wafa, Sean Dwyer, John M. Micozzi, Kellen D. Winden, Bo Zhang, Min-Joon Han, Robin J. Kleiman, Catherine A. Brownstein, Mustafa Sahin, and Joseph Gonzalez-Heydrich<\/p>\n

Front. Psychiatry, 03 November 2022, Sec. Molecular Psychiatry, https:\/\/doi.org\/10.3389\/fpsyt.2022.924956<\/a><\/p>\n

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JAMA Neurology<\/strong><\/p>\n

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis<\/a><\/h3>\n

Siddharth Srivastava, Sara Lewis, Julie Cohen, Bo Zhang, Bhooma Aravamuthan, Maya Chopra, Mustafa Sahin, Michael Kruer, Annapurna Poduri<\/p>\n

JAMA Neurology<\/em>, 2022; Volume 2, Issue 10 e568, https:\/\/doi.org\/10.1001\/jamaneurol.2022.3549<\/a><\/p>\n

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Molecular Therapy Methods & Clinical Development<\/strong><\/p>\n

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy<\/a><\/h3>\n

Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin<\/p>\n

Molecular Therapy Methods & Clinical Development<\/em>. Volume 27, 8 December 2022, Pages 32-46.
https:\/\/doi.org\/10.1016\/j.omtm.2022.08.007<\/a><\/p>\n

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Frontiers in Integrative Neuroscience<\/strong><\/p>\n

Neural response to repeated auditory stimuli and its association with early language ability in male children with Fragile X syndrome<\/a><\/h3>\n

Winko An, Charles Nelson, and Carol Wilkinson<\/p>\n

Front. Integr. Neurosci.<\/em>, 14 November 2022, https:\/\/doi.org\/10.3389\/fnint.2022.987184<\/a><\/p>\n

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Current Protocols<\/strong><\/p>\n

Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities<\/a><\/h3>\n

Dosh Whye, Delaney Wood, Kristina H. Kim, Cidi Chen, Nina Makhortova, Mustafa Sahin, Elizabeth D. Buttermore<\/p>\n

Current Protocols<\/em>, 2022; Volume 2, Issue 10 e568, https:\/\/doi.org\/10.1002\/cpz1.568<\/a><\/p>\n

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Human Molecular Genetics<\/strong><\/p>\n

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome<\/a><\/h3>\n

Siddharth Srivastava,\u00a0Booil Jo,\u00a0Bo Zhang,\u00a0Thomas Frazier,\u00a0Anne Snow Gallagher,\u00a0Fleming Peck,\u00a0April R Levin,\u00a0Sangeeta Mondal,\u00a0Zetan Li,\u00a0Rajna Filip-Dhima,\u00a0Gregory Geisel,\u00a0Kira A Dies,\u00a0Amelia Diplock,\u00a0Charis Eng,\u00a0Rabi Hanna,\u00a0Mustafa Sahin,\u00a0Antonio Hardan,\u00a0the Developmental Synaptopathies Consortium<\/p>\n

Human Molecular Genetics<\/em>, 2022; ddac111, https:\/\/doi.org\/10.1093\/hmg\/ddac111<\/a><\/p>\n

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The American Journal of Human Genetics<\/strong><\/p>\n

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact<\/a><\/h3>\n

Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris<\/p>\n

The American Journal of Human Genetics.<\/em> Volume 109, Issue 8, 2021, Pages 1353-1365.
https:\/\/doi.org\/10.1016\/j.ajhg.2022.07.003<\/a><\/p>\n

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Journal of Neurodevelopmental Disorders<\/strong><\/p>\n

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers<\/a><\/h3>\n

Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin & Paul Avillach<\/p>\n

Journal of Neurodevelopmental Disorders<\/em> 14, 24 (2022).
https:\/\/doi.org\/10.1186\/s11689-022-09434-0<\/a><\/p>\n

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Molecular Therapy<\/strong><\/p>\n

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders<\/a><\/h3>\n

Beverly L. Davidson, Guangping Gao, Elizabeth Berry-Kravis, Allison M. Bradbury, Carsten B\u00f6nnemann, Joseph D. Buxbaum, Gavin R. Corcoran, Steven J. Gray, Heather Gray-Edwards, Robin J. Kleiman, Adam J. Shaywitz, Dan Wang, Huda Y. Zoghbi, Terence R. Flotte, Sitra Tauscher-Wisniewski, Cynthia J. Tifft, Mustafa Sahin<\/p>\n

Molecular Therapy <\/em>, Volume 30, Issue 7, 2022, Pages 2416-2428, ISSN 1525-0016,
https:\/\/doi.org\/10.1016\/j.ymthe.2022.05.014<\/a>.<\/p>\n

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2021<\/h2>\n

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The American Journal of Human Genetics<\/strong><\/p>\n

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism<\/a><\/h3>\n

Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kort\u00fcm, Maja Hempel, Jonas Denecke, Anna Lehman, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariette J.V. Hoffer, Cacha Peeters-Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Ugur Hodoglugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Naomi Yachelevich, Sajel Lala, Alberto Fern\u00e1ndez-Jaen, Janvier Porta Pelayo, Chiara Kl\u00f6ckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arelin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, V\u00e9ronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon<\/p>\n

The American Journal of Human Genetics<\/em>, Volume 108, Issue 6, 2021, Pages 1138-1150,ISSN 0002-9297, https:\/\/doi.org\/10.1016\/j.ajhg.2021.04.007<\/a>.<\/p>\n

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PublicationsFeatured PublicationNature Genetics Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan, Alvin Hsu, Jennie C. L. Roy, Jing Zhao, Tian Yu, Ben Weisburd, Gregory A. Newby, Neil J. Doherty, Muzhou Wu, Shota Shibata, Ana Cristian, […]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-10739","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/pages\/10739","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/comments?post=10739"}],"version-history":[{"count":73,"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/pages\/10739\/revisions"}],"predecessor-version":[{"id":13441,"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/pages\/10739\/revisions\/13441"}],"wp:attachment":[{"href":"https:\/\/epitomestaging.com\/tnc\/wp-json\/wp\/v2\/media?parent=10739"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}