Resultados da pesquisa - Valentina Stanley

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  1. 1
    Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

    Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission Por Martin W. Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy‐Venneri, Xin Xu, Arlene J. Morales, Joseph G. Gleeson

    Publicado em 2022
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  2. 2
    Author response: Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

    Author response: Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission Por Martin W. Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy‐Venneri, Xin Xu, Arlene J. Morales, Joseph G. Gleeson

    Publicado em 2022
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  3. 3
    Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients’ Brain Lesions

    Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients’ Brain Lesions Por Camila Araújo Bernardino Garcia, Muhammad Zubair, Marcelo Volpon Santos, Sang Hyun Lee, Ian D. Graham, Valentina Stanley, Renee D. George, Joseph G. Gleeson, Hélio Rubens Machado, Xiaoxu Yang

    Publicado em 2025
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  4. 4
    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features Por Isaac Marin‐Valencia, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud Y. Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L. Silhavy, Valentina Stanley, Rasim Özgür Rosti, Jeremy W Gleeson, Farhad Imam, Maha S. Zaki, Joseph G. Gleeson

    Publicado em 2017
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  5. 5
    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly Por Lu Wang, Zhen Li, David Sievert, Desirée E.C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen G. Ghosh, Yulu Wang, Majdi Kara, Ayça Dilruba Aslanger, Rasim Özgür Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

    Publicado em 2020
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  6. 6
    Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

    Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain Por Changuk Chung, Xiaoxu Yang, Robert F. Hevner, Katie Kennedy, Keng Ioi Vong, Yang Liu, Arzoo Patel, Rahul Nedunuri, Scott T. Barton, Geoffroy Noël, Chelsea Barrows, Valentina Stanley, Swapnil Mittal, Martin W. Breuss, Johannes C. M. Schlachetzki, Stephen F. Kingsmore, Joseph G. Gleeson

    Publicado em 2024
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  7. 7
    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia Por Isaac Marin‐Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben‐Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez‐Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Başak Rosti, Sara A. Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson

    Publicado em 2017
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  8. 8
    mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

    mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly Por Camila Araújo Bernardino Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Úrsula Thomé, Marcelo Volpon Santos, Fabiano Pinto Saggioro, Luciano Neder Serafini, Wilson A. Silva, Joseph G. Gleeson, Hélio Rubens Machado

    Publicado em 2020
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  9. 9
    Developmental and temporal characteristics of clonal sperm mosaicism

    Developmental and temporal characteristics of clonal sperm mosaicism Por Xiaoxu Yang, Martin W. Breuss, Xin Xu, Danny Antaki, Kiely N. James, Valentina Stanley, Laurel Ball, Renee D. George, Sara A. Wirth, Beibei Cao, An Nguyen, Jennifer McEvoy‐Venneri, Guoliang Chai, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Jonathan Sebat, Joseph G. Gleeson

    Publicado em 2021
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  10. 10
    Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

    Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors Por Hongda Li, Laura Saucedo-Cuevas, Ling Yuan, Danica Ross, Anide Johansen, Daniel I. Sands, Valentina Stanley, Alicia Guemez‐Gamboa, Anne Gregor, Todd Evans, Shuibing Chen, Lei Tan, Henrik Molina, Nicholas Sheets, Sergey A. Shiryaev, Alexey V. Terskikh, Amy S. Gladfelter, Sujan Shresta, Zhiheng Xu, Joseph G. Gleeson

    Publicado em 2019
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  11. 11
    Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

    Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects Por Roberta De Mori, Marta Romani, Stefano D’Arrigo, Maha S. Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joël Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y. Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa’na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia M.S. Mancini, Enrico Bertini, William B. Dobyns, Tommaso Mazza, Joseph G. Gleeson, Enza Maria Valente

    Publicado em 2017
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  12. 12
    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy Por Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing‐Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek Omar, Tawfeg Ben‐Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

    Publicado em 2019
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  13. 13
    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia Por Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha S. Zaki, Meral Topçu, Fatma Müjgan Sönmez, Damir Musaev, Valentina Stanley, Christine Bôle‐Feysot, Patrick Nitschké, Arnold Münnich, Nadia Bahi‐Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Bürglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

    Publicado em 2020
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  14. 14
    Biallelic variants in KIF14 cause intellectual disability with microcephaly

    Biallelic variants in KIF14 cause intellectual disability with microcephaly Por Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen, Damir Musaev, Maha S. Zaki, Iman G. Mahmoud, Laila Selim, Amera Elbadawy, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Tomasz Gambin, Hanne Sørmo Sorte, Arvid Heiberg, Jennifer McEvoy‐Venneri, Kiely N. James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G. Gleeson, James R. Lupski, Ehsan Ghayoor Karimiani, Stylianos E. Antonarakis

    Publicado em 2018
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  15. 15
    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function Por Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller

    Publicado em 2020
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  16. 16
    Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

    Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism Por Wendy Wenderski, Lu Wang, A. Krokhotin, Jessica J. Walsh, Hongjie Li, Hirotaka Shoji, Shereen G. Ghosh, Renee D. George, Erik L. Miller, Laura Elias, Mark A. Gillespie, Esther Son, Brett T. Staahl, Seung Tae Baek, Valentina Stanley, Cynthia Moncada-Reid, Zohar Shipony, Sara B. Linker, Maria C. Marchetto, Fred H. Gage, Dillon Chen, Tipu Sultan, Maha S. Zaki, Jeffrey A. Ranish, Tsuyoshi Miyakawa, Liqun Luo, Robert C. Malenka, Robert H. Crabtree, Joseph G. Gleeson

    Publicado em 2020
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  17. 17
    A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

    A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion Por Guoliang Chai, Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor G Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy‐Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M. Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria Betânia Pereira Toralles, Paula M.L. Pitanga, Ratna Dua Puri, Rebecca Hernan, Wendy K. Chung, Aida M. Bertoli‐Avella, Nouriya Al‐Sannaa, Maha S. Zaki, Karl Willert, Bruno Reversade, Joseph G. Gleeson

    Publicado em 2021
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  18. 18
    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome Por Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy Dixon‐Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al‐Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux, Valentina Stanley, Andreea Manole, Uğur Akpulat, Marjan M. Weiss, Stéphanie Efthymiou, Michael G. Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Lisa Weixler, Peter Nürnberg, Hölger Thiele, Uluç Yiş, Tuncay Derya Okur, Ayşe Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran Beiraghi Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M. van Hagen, Nicole I. Wolf, Reza Maroofian, Henry Houlden, Sebahattin Çırak, Joseph G. Gleeson

    Publicado em 2018
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  19. 19
    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration Por Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Çağlayan, Nouriya Al-Sanaa, Hind Y. Al-Abdulwahed, Hande Kaymakçalan, Cahide Yılmaz, Maha S. Zaki, Rasim Özgür Rosti, Brett Copeland, Seung Tae Baek, Damir Musaev, Eric Scott, Tawfeg Ben‐Omran, Ariana Kariminejad, Hülya Kayserili, Faezeh Mojahedi, Majdi Kara, Na Cai, Jennifer L. Silhavy, Seham Elsharif, Elif Fenercioğlu, Bruce A. Barshop, Bülent Kara, Rengang Wang, Valentina Stanley, Kiely N. James, Rahul Nachnani, Aneesha Kalur, Hisham Megahed, Faruk İncecik, Sumita Danda, Yasemin Alanay, Eissa Faqeih, Gia Melikishvili, Lobna Mansour, Ian Miller, Biayna Sukhudyan, Jamel Chelly, William B. Dobyns, Kaya Bilgüvar, Rami Abou Jamra, Murat Günel, Joseph G. Gleeson

    Publicado em 2018
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  20. 20
    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Por Guoliang Chai, A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor G Marshall, Patrick M. Gaffney, Klaas J. Wierenga, Brian Hon‐Yin Chung, Mandy Ho‐Yin Tsang, Lynn Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth M. A. Valleley, Mahmoud Y. Issa, Sherif F. Abdel‐Ghafar, Mohamed S. Abdel‐Hamid, Patricia A. Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson

    Publicado em 2020
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