Nora O’Connor
9 Papers
5 Citations
Nora O’Connor is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 3, co-authored 5 publications.
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Papers
Genomic profiling informs diagnoses and treatment in vascular anomalies
Dong Li,Sarah E Sheppard,Michael E. March,Mark R. Battig,Lea F. Surrey,Abhay Srinivasan,Leticia S. Matsuoka,Lifeng Tian,Fengxiang Wang,Christoph Seiler,Jillian S. Dayneka,Alexandra J. Borst,Scott M. Paulissen,Ganesh Krishnamurthy,Bede N Nriagu,Tamjeed Sikder,Lydia S Williams,Sneha Rangu,Nora O’Connor,Alexandria Thomas,Erin Pinto,Cuiping Hou,Kenny Nguyen,Renata Pellegrino da Silva,Samar N. Chehimi,C. Kao,L. P. Biróc,Allison D Britt,Maria Queenan,Janet R. Reid,Joseph A. Napoli,D. Low,Seth Vatsky,James R. Treat,Christopher L. Smith,Anne Marie Cahill,Kristen M. Snyder,Denise M. Adams,Yoav Dori,Hakon Hakonarson +39 more
TL;DR: Genomic and cell-free DNA sequencing clarify the clinical diagnosis and inform treatment initiation in a cohort of 356 patients with vascular anomalies, and support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype–phenotype associations and guide medical therapy in individuals with vascular anomaly.
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li,Qi Wang,Allan Bayat,Mark R. Battig,Yijing Zhou,Daniëlle Gm Bosch,Gijs van Haaften,L. Granger,Andrea K Petersen,Luis A Pérez-Jurado,Gemma Aznar-Laín,Anushree Aneja,Miroslava Hancarova,Šárka Bendová,Martin Schwarz,Radka Kremlikova Pourova,Zdenek Sedlacek,Beth Keena,Michael E. March,Cuiping Hou,Nora O’Connor,Elizabeth J. Bhoj,Margaret Harr,Gabrielle Lemire,Kym M. Boycott,Meghan C Towne,Megan Li,Mark Tarnopolsky,Lauren Brady,Michael J Parker,Hanna Faghfoury,Lea Kristin Parsley,Emanuele Agolini,Maria Lisa Dentici,Antonio Novelli,Meredith S Wright,Rachel Palmquist,Khanh Lai,Marcello Scala,P. Striano,Michele Iacomino,Federico Zara,Annina Cooper,Timothy J. Maarup,Melissa Byler,R. R. Lebel,Tugce B. Balci,Raymond J. Louie,Michael J. Lyons,Jessica Douglas,Catherine B Nowak,Alexandra Afenjar,Juliane Hoyer,Boris Keren,Saskia M Maas,Mahdi M. Motazacker,Julian A. Martinez-Agosto,Ahna M. Rabani,Elizabeth M. McCormick,Marni Falk,S. M. Ruggiero,I. Helbig,Rikke S. Møller,Lino Tessarollo,Francesco Tomassoni-Ardori,Mary Ellen Palko,Tzung-Chien Hsieh,P. Krawitz,Mythily Ganapathi,Bruce D. Gelb,Vaidehi Jobanputra,Ashley Wilson,John M. Greally,Sébastien Jacquemont,Khadije Jizi,Bruel Ange-Line,Chloé Quélin,Vinod K. Misra,Erika Chick,C. 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,M.L. Thompson,Ryan J Schmidt,Linda M. Randolph,Rebecca C. Spillmann,Vandana Shashi,Edward J Higginbotham,Dawn Cordeiro,A. Carnevale,Gregory Costain,Tayyaba Khan,Benoît Funalot,Frédéric Tran Mau-Them,Luis Fernandez Garcia Moya,Sixto García-Miñaur,Matthew M. 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 Abdallah,Marion Lesieur-Sebellin,Jeanne Amiel,Veronique Pingault,Sandra Mercier,Marie Vincent,Christophe Philippe,Clémence Fatus-Fauconnier,Kathryn L Friend,Rebecca Halligan,Sunita Biswas,Jane Mr Rosser,Cheryl Shoubridge,Mark A. Corbett,Christopher Barnett,Jozef Gecz,Kathleen A. Leppig,Anne Slavotinek,Carlo Marcelis,Rolph Pfundt,B. B. de Vries,Marjon van Slegtenhorst,Alice S. Brooks,Benjamin Cogné,Thomas Rambaud,Zeynep Tümer,Elaine H. Zackai,Naiara Akizu,Yuanquan Song,Hakon Hakonarson +152 more
TL;DR: This study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.
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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
Sarah E Sheppard,Michael E. March,Christoph Seiler,Leticia S. Matsuoka,Sophia E Kim,C. Kao,Adam I. Rubin,Mark R. Battig,Nahla Khalek,Erica Schindewolf,Nora O’Connor,Erin Pinto,Jessica R. C. Priestley,Victoria R. Sanders,Rojeen Niazi,Arupa Ganguly,Cuiping Hou,Diana J. Slater,Ilona J. Frieden,Thy Huynh,Joseph T. Shieh,Ian D. Krantz,Jessenia Guerrero,Lea F. Surrey,David M. Biko,Pablo Laje,Leslie Castelo-Soccio,Taizo A. Nakano,Kristen M. Snyder,Christopher L. Smith,Dong Li,Yoav Dori,Hakon Hakonarson +32 more
TL;DR: In this paper , the authors identified 4 individuals with CCLA, lymphedema, and microcystic lymphatic malformation due to pathogenic, mosaic variants in KRAS.
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Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly
Mandi Liu,Christopher L. Smith,David M. Biko,Dong Li,Erin Pinto,Nora O’Connor,Cara M. Skraban,Elaine H. Zackai,Hakon Hakonarson,Yoav Dori,Sarah E Sheppard +10 more
TL;DR: The dynamic contrast magnetic resonance lymphangiograms were analyzed and found that individuals with germline and mosaic RASopathies, mosaic KRASopaths, PIEZO1-related lymphatic dysplasia, and Trisomy 21 had distinct central lymphatic flow phenotypes.
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