K
Kathleen Brown
Researcher at Anschutz Medical Campus
Publications - 12
Citations - 380
Kathleen Brown is an academic researcher from Anschutz Medical Campus. The author has contributed to research in topics: Exome sequencing & Noonan syndrome. The author has an hindex of 7, co-authored 12 publications receiving 212 citations. Previous affiliations of Kathleen Brown include University of Colorado Denver & Boston Children's Hospital.
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Journal ArticleDOI
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
Simone Martinelli,Oliver H.F. Krumbach,Francesca Pantaleoni,Simona Coppola,Ehsan Amin,Luca Pannone,Kazem Nouri,Luciapia Farina,Radovan Dvorsky,Francesca Romana Lepri,Marcel Buchholzer,Raphael Konopatzki,Laurence J. Walsh,Katelyn Payne,Mary Ella M Pierpont,Mary Ella M Pierpont,Samantha A. Schrier Vergano,Katherine G. Langley,Douglas P. Larsen,Kelly D. Farwell,Sha Tang,Cameron Mroske,Ivan Gallotta,Elia Di Schiavi,Matteo Della Monica,Licia Lugli,Cesare Rossi,Marco Seri,Guido Cocchi,Lindsay B. Henderson,Berivan Baskin,Marielle Alders,Roberto Mendoza-Londono,Lucie Dupuis,Deborah A. Nickerson,Jessica X. Chong,Naomi Meeks,Kathleen Brown,Tahnee N Causey,Megan T. Cho,Stephanie Demuth,Maria Cristina Digilio,Bruce D. Gelb,Michael J. Bamshad,Martin Zenker,Mohammad Reza Ahmadian,Raoul C.M. Hennekam,Marco Tartaglia,Ghayda M. Mirzaa,Ghayda M. Mirzaa +49 more
TL;DR: It is reported that missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies, including a phenotype resembling Noonan syndrome.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
Simone Martinelli,Oliver H.F. Krumbach,Francesca Pantaleoni,Simona Coppola,Ehsan Amin,Luca Pannone,Kazem Nouri,Luciapia Farina,Radovan Dvorsky,Francesca Romana Lepri,Marcel Bucholzer,Raphael Konopatzki,Laurence J. Walsh,Katelyn Payne,Mary Ella M Pierpont,Samantha A. Schrier Vergano,Katherine G. Langley,Douglas P. Larsen,Kelly D. Farwell,Sha Tang,Cameron Mroske,Ivan Gallotta,Elia Di Schiavi,Matteo Della Monica,Licia Lugli,Cesare Rossi,Marco Seri,Guido Cocchi,Lindsay B. Henderson,Berivan Baskin,Marielle Alders,Roberto Mendoza-Londono,Lucie Dupuis,Deborah A. Nickerson,Jessica X. Chong,Naomi Meeks,Kathleen Brown,Tahnee N Causey,Megan T. Cho,Stephanie Demuth,Maria Cristina Digilio,Bruce D. Gelb,Michael J. Bamshad,Martin Zenker,Mohammad Reza Ahmadian,Raoul C.M. Hennekam,Marco Tartaglia,Ghayda M. Mirzaa +47 more
TL;DR: In this article, missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies.
Journal ArticleDOI
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Elisabetta Flex,Elisabetta Flex,Simone Martinelli,Anke Van Dijck,Andrea Ciolfi,Serena Cecchetti,Elisa Coluzzi,Luca Pannone,Cristina Andreoli,Francesca Clementina Radio,Simone Pizzi,Giovanna Carpentieri,Alessandro Bruselles,Giuseppina Catanzaro,Lucia Pedace,Evelina Miele,Elena Carcarino,Xiaoyan Ge,Xiaoyan Ge,Chieko Chijiwa,M. E. Suzanne Lewis,Marije Meuwissen,Sandra Kenis,Nathalie Van der Aa,Austin Larson,Kathleen Brown,Melissa P. Wasserstein,Brian G. Skotko,Amber Begtrup,Richard E. Person,Maria Karayiorgou,J. Louw Roos,Koen L.I. van Gassen,Marije Koopmans,Emilia K. Bijlsma,Gijs W. E. Santen,Daniela Q.C.M. Barge-Schaapveld,Claudia A. L. Ruivenkamp,Mariëtte J.V. Hoffer,Seema R. Lalani,Haley Streff,William J. Craigen,Brett H. Graham,Brett H. Graham,Annette P.M. van den Elzen,Daan J. Kamphuis,Katrin Õunap,Katrin Õunap,Karit Reinson,Karit Reinson,Sander Pajusalu,Sander Pajusalu,Sander Pajusalu,Monica H. Wojcik,Clara Viberti,Cornelia Di Gaetano,Enrico Bertini,Simona Petrucci,Simona Petrucci,Alessandro De Luca,Rossella Rota,Elisabetta Ferretti,Giuseppe Matullo,Bruno Dallapiccola,Antonella Sgura,Magdalena Walkiewicz,Magdalena Walkiewicz,R. Frank Kooy,Marco Tartaglia +68 more
TL;DR: This work identifies a direct link between aberrant chromatin remodeling, cellular senescence, and accelerated aging in germline frameshift mutations involving the C-terminal tail of HIST1H1E.
Journal ArticleDOI
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Björn Fischer-Zirnsak,Lara Segebrecht,Max Schubach,Perrine Charles,Emily Alderman,Kathleen Brown,Maxime Cadieux-Dion,Tracy Cartwright,Yanmin Chen,Carrie Costin,S. Fehr,Keely M Fitzgerald,Keely M Fitzgerald,Emily Fleming,Kimberly Foss,Thoa K. Ha,Gabriele Hildebrand,Denise Horn,Shuxi Liu,Elysa J. Marco,Marie T. McDonald,Kirsty McWalter,Simone Race,Eric T. Rush,Yue Si,Carol J Saunders,Carol J Saunders,Anne Slavotinek,Sylvia Stockler-Ipsiroglu,Aida Telegrafi,Isabelle Thiffault,Isabelle Thiffault,Erin Torti,Anne Chun-Hui Tsai,Anne Chun-Hui Tsai,Xin Wang,Muhammad Zafar,Boris Keren,Uwe Kornak,Cornelius F. Boerkoel,Ghayda M. Mirzaa,Ghayda M. Mirzaa,Nadja Ehmke +42 more
TL;DR: The clinical and molecular data support haploinsufficiency as a mechanism for the pathogenesis of this D LL1-related disorder and affirm the importance of DLL1 in human brain development.
Journal ArticleDOI
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Anaïs Begemann,Heinrich Sticht,Amber Begtrup,Antonio Vitobello,Laurence Faivre,Siddharth Banka,Siddharth Banka,Bader Alhaddad,Reza Asadollahi,Jessica Becker,Tatjana Bierhals,Kathleen Brown,Ange-Line Bruel,Theresa Brunet,Maryline Carneiro,Kirsten Cremer,Robert C. Day,Anne-Sophie Denommé-Pichon,Dave A Dyment,Dave A Dyment,Hartmut Engels,Rachel Fisher,Elaine Suk-Ying Goh,M. J. Hajianpour,Lucia Ribeiro Machado Haertel,Nadine N. Hauer,Maja Hempel,Theresia Herget,Jessika Johannsen,Cornelia Kraus,Gwenaël Le Guyader,Gaetan Lesca,Gaetan Lesca,Frédéric Tran Mau-Them,John H McDermott,John H McDermott,Kirsty McWalter,Pierre Meyer,Katrin Õunap,Katrin Õunap,Bernt Popp,Bernt Popp,Tiia Reimand,Tiia Reimand,Korbinian M. Riedhammer,Martina Russo,Lynette G. Sadleir,Margarita Saenz,Manuel Schiff,Manuel Schiff,Elisabeth Schuler,Steffen Syrbe,Amelie Theresa Van der Ven,Alain Verloes,Marjolaine Willems,Christiane Zweier,Katharina Steindl,Markus Zweier,Anita Rauch +58 more
TL;DR: This study expands the clinical and molecular spectrum of CYFIP2-related neurodevelopmental disorder and provides evidence for aberrant WRC-mediated actin dynamics as contributing cellular pathomechanism.