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Louisa Kalsner
Researcher at University of Connecticut
Publications - 13
Citations - 316
Louisa Kalsner is an academic researcher from University of Connecticut. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 7, co-authored 11 publications receiving 202 citations. Previous affiliations of Louisa Kalsner include University of Connecticut Health Center.
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Journal ArticleDOI
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
TL;DR: The clinical background, genetic cause, diagnostic strategy, and management of each of these three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus are discussed.
Journal ArticleDOI
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Yuri A. Zarate,Constance Smith-Hicks,Carol L. Greene,Mary-Alice Abbott,Victoria Mok Siu,Amy R. U. L. Calhoun,Arti Pandya,Chumei Li,Elizabeth A. Sellars,Julie Kaylor,Katherine A. Bosanko,Louisa Kalsner,Alice Basinger,Anne Slavotinek,Hazel Perry,Margarita Saenz,Marta Szybowska,Louise C. Wilson,Ajith Kuttannair Kumar,Caroline Brain,Meena Balasubramanian,Holly Dubbs,Xilma R. Ortiz-Gonzalez,Elaine H. Zackai,Quinn Stein,Cynthia M. Powell,Samantha A. Schrier Vergano,Allison D. Britt,Angela Sun,Wendy E. Smith,E. Martina Bebin,Jonathan Picker,Amelia Kirby,Hailey Pinz,Hannah Bombei,Sonal Mahida,Julie S. Cohen,Ali Fatemi,Hilary J. Vernon,Rebecca McClellan,Leah Fleming,Brittney Knyszek,Michelle Steinraths,Cruz Velasco Gonzalez,Anita E. Beck,Katie Golden-Grant,Alena Egense,Aditi Shah Parikh,Aditi Shah Parikh,Chantalle Raimondi,Brad Angle,William Allen,Suzanna Schott,Adi Algrabli,Nathaniel H. Robin,Joseph W. Ray,David B. Everman,Michael J. Gambello,Wendy K. Chung +58 more
TL;DR: It is confirmed that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high‐arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.
Journal ArticleDOI
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio,Kaifang Pang,Andrea Ciolfi,Michael A. Levy,Andres Hernandez-Garcia,Lucia Pedace,Francesca Pantaleoni,Zhandong Liu,Elke de Boer,Adam Jackson,Adam Jackson,Alessandro Bruselles,Haley McConkey,Emilia Stellacci,Stefania Lo Cicero,Marialetizia Motta,Rosalba Carrozzo,Maria Lisa Dentici,Kirsty McWalter,Megha Desai,Kristin G. Monaghan,Aida Telegrafi,Christophe Philippe,Antonio Vitobello,Margaret Au,Katheryn Grand,Pedro A. Sanchez-Lara,Joanne Baez,Kristin Lindstrom,Peggy Kulch,Jessica Sebastian,Suneeta Madan-Khetarpal,Chelsea Roadhouse,Jennifer MacKenzie,Berrin Monteleone,Carol J Saunders,July K. Jean Cuevas,Laura A Cross,Dihong Zhou,Taila Hartley,Sarah L. Sawyer,Fabíola Paoli Monteiro,Tania Vertemati Secches,Fernando Kok,Laura Schultz-Rogers,Erica L. Macke,Eva Morava,Eric W. Klee,Jennifer L. Kemppainen,Maria Iascone,Angelo Selicorni,Romano Tenconi,David J. Amor,Lynn Pais,Lyndon Gallacher,Peter D. Turnpenny,Karen Stals,Sian Ellard,Sara Cabet,Gaetan Lesca,Joset Pascal,Katharina Steindl,Sarit Ravid,Karin Weiss,Alison M R Castle,Melissa T. Carter,Louisa Kalsner,Bert B.A. de Vries,Bregje W.M. van Bon,Marijke R. Wevers,Rolph Pfundt,Alexander P.A. Stegmann,Bronwyn Kerr,Helen Kingston,Kate Chandler,Willow Sheehan,Abdallah F. Elias,Deepali N. Shinde,Meghan C. Towne,Nathaniel H. Robin,Dana H. Goodloe,Adeline Vanderver,Adeline Vanderver,Omar Sherbini,Krista Bluske,R. Tanner Hagelstrom,Caterina Zanus,Flavio Faletra,Luciana Musante,Evangeline Kurtz-Nelson,Rachel K. Earl,Britt-Marie Anderlid,Gilles Morin,Marjon van Slegtenhorst,Karin E. M. Diderich,Alice S. Brooks,Joost Gribnau,Ruben Boers,Teresa Robert Finestra,Lauren Carter,Anita Rauch,Paolo Gasparini,Paolo Gasparini,Kym M. Boycott,Tahsin Stefan Barakat,John M. Graham,Laurence Faivre,Siddharth Banka,Siddharth Banka,Tianyun Wang,Evan E. Eichler,Manuela Priolo,Bruno Dallapiccola,Lisenka E.L.M. Vissers,Bekim Sadikovic,Daryl A. Scott,Jimmy Holder,Marco Tartaglia +117 more
TL;DR: In this article, the authors used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome.
Journal ArticleDOI
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Yuri A. Zarate,Louisa Kalsner,Alice Basinger,Julie R. Jones,Chumei Li,Marta Szybowska,Zhou Luan Xu,Samantha A. Schrier Vergano,Aisling R. Caffrey,Cruz Velasco Gonzalez,Holly Dubbs,Elaine H. Zackai,Francisca Millan,Aida Telegrafi,Berivan Baskin,Richard E. Person,Jennifer L. Fish,David B. Everman +17 more
TL;DR: Early genotype‐phenotype correlations are explored and the main clinical features of this recognizable syndrome are reaffirmed: universal DD with severe speech impediment, mild facial dysmorphism, and high frequency of craniofacial anomalies, behavioral issues, and brain neuroradiographic changes.
Journal ArticleDOI
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Louisa Kalsner,Jennifer Twachtman-Bassett,Kristin Tokarski,Christine Stanley,Thyde Dumont-Mathieu,Justin Cotney,Stormy J. Chamberlain +6 more
TL;DR: Genetic testing of children with autism spectrum disorder is now standard in the clinical setting, with American College of Medical Genetics and Genomics guidelines recommending microarray for all children, fragile X testing for boys and additional gene sequencing, including PTEN and MECP2, in appropriate patients.