Search Results - Anne Slavotinek
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Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype by Ria Garg, Ria Garg, Wenying Zhang, Wenying Zhang, Julianne E. Hartmann, Anne Slavotinek, Anne Slavotinek
Published in Frontiers in Pediatrics (2025-04-01)Get full text
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A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression by Tien Le, Stephanie Htun, Manoj Kumar Pandey, Manoj Kumar Pandey, Yihui Sun, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah, Julie Lauzon, Shannon Beres, Shannon Beres, Chung Lee, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Sergio E. Baranzini, Sergio E. Baranzini, Anne Slavotinek, Anne Slavotinek, Anne Slavotinek
Published in Frontiers in Cell and Developmental Biology (2025-03-01)Get full text
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P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia by Farrah Jackson, Jaime Lopes, Sarah Taylor, Laurelle Kinga-Bakienga, Anne Slavotinek, Kristin Theobald
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome by Dima Qu’d, Lauren M. Schmitt, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Jacqueline R. Harris, Anne Slavotinek, Anne Slavotinek, Ilka Riddle, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson, Brittany N. Simpson
Published in Frontiers in Genetics (2023-06-01)Get full text
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P627: Bi-allelic RAB5IF variants associated with craniofacial and skeletal anomalies: Further insights into CFSMR2 syndrome by Khurram Liaqat, Kayla Treat, Molly McPheron, Anne Slavotinek, Balram Gangaram, Daniel Calame, Erin Conboy, Francesco Vetrini
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study by Kristin Theobald, Farrah Jackson, Jaime Lopes, Amelle Shillington, Hassan Chaib, Brian Dawson, Laurelle Kinga-Bakienga, Michael Pauciulo, Anne Slavotinek
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P331: Establishing episignatures as a diagnostic tool for diabetic embryopathy by Ava Schwan, Farrah Jackson, Karim Karimi, Jennifer Kerkhof, Daniel Swarr, David Russell, Xue Zhang, Tugce Balci, Bekim Sadikovic, Anne Slavotinek
Published in Genetics in Medicine Open (2025-01-01)Get full text
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O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort by Teresa Sparks, Billie Lianoglou, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Pui-Yan Kwok, Sara Ackerman, Anne Slavotinek, Neil Risch, Mary Norton
Published in Genetics in Medicine Open (2023-01-01)Get full text
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P338: Studying the role of the DIP2C gene in humans and zebrafish by Katelyn Beatty, Ajay Deepak Verma, Madison Moe, Stephanie Htun, Thomas Scerri, Alpa Sidhu, Jacob Ginter, Lindsey Walker, Matthew Deardorff, Jenny Do, Ingrid van de Laar, Melissa Pauly, Georgia Vasileiou, Angela Morgan, Anne Slavotinek
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Genetic ancestry and diagnostic yield of exome sequencing in a diverse population by Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara L. Ackerman, Barbara A. Koenig, Pui-Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch
Published in npj Genomic Medicine (2024-01-01)Get full text
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O40: Clinical utility of prenatal exome sequencing in a diverse cohort* by Mary Norton, Billie Lianoglou, Matthew Shear, Sara Ackerman, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Neil Risch, Pui-Yan Kwok, Anne Slavotinek, Teresa Sparks
Published in Genetics in Medicine Open (2023-01-01)Get full text
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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish by Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia
Published in Nature Communications (2022-11-01)Get full text
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Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population by Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Published in npj Genomic Medicine (2023-10-01)Get full text
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population by Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Published in npj Genomic Medicine (2023-05-01)Get full text
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features by Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna C.E. Hurst, Michelle L. Thompson, Ryan Schmidt, Linda Randolph, Rebecca C. Spillmann, Vandana Shashi, Edward J. Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O. Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert B.A. de Vries, Marjon A. van Slegtenhorst, Alice S. Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H. Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson
Published in The Journal of Clinical Investigation (2024-01-01)Get full text
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