Anna Childers
Vanderbilt University Medical Center
10 Papers
Anna Childers is an academic researcher from Vanderbilt University Medical Center. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 3, co-authored 3 publications. Previous affiliations of Anna Childers include Vanderbilt University.
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Papers
A multidisciplinary approach to the clinical management of Prader-Willi syndrome.
Jessica Duis,Pieter Joost van Wattum,Ann O. Scheimann,Parisa Salehi,Elly Brokamp,Laura Fairbrother,Anna Childers,Althea Robinson Shelton,Nathan C. Bingham,Ashley H. Shoemaker,Jennifer L. Miller +10 more
TL;DR: Prader–Willi syndrome is a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations.
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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Lisa Pavinato,Andrea Delle Vedove,Diana Carli,Marta Ferrero,Silvia Carestiato,Jennifer L. Howe,Emanuele Agolini,Domenico A. Coviello,I Van de Laar,Ping-Yee Billie Au,Eleonora Di Gregorio,Alessandra Fabbiani,Susanna Croci,Maria Antonietta Mencarelli,L. Bruno,Alessandra Renieri,Danai Veltra,Christalena Sofocleous,Laurence Faivre,B. Mazel,Hana Safraou,Anne-Sophie Denommé-Pichon,Marjon van Slegtenhorst,Noor A. A. Giesbertz,Richard H. van Jaarsveld,Anna Childers,R. Curtis Rogers,Antonio Novelli,Silvia De Rubeis,Joseph D. Buxbaum,Stephen W. Scherer,Giovanni Battista Ferrero,Brunhilde Wirth,Alfredo Brusco +33 more
TL;DR: It is demonstrated that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and morphological and functional alterations associated with this disorder in human neuronal models are identified.
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Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome
TL;DR: Some individuals are mosaic for normal and defective UBE3A expression, resulting in mosaic AS (mAS) with a partial loss of gene expression.
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Amélie Cordovado,Martina Schaettin,Médéric Jeanne,Veranika Panasenkava,Anne-Sophie Denommé-Pichon,Boris Keren,Cyril Mignot,Martine Doco-Fenzy,Lance H. Rodan,Keri E. Ramsey,Vinodh Narayanan,Julie R. Jones,Eloise J. Prijoles,Wendy G. Mitchell,Jillian R Ozmore,Kali Juliette,Erin Torti,Elizabeth A. Normand,L. Granger,Andrea K. Petersen,Margaret G. Au,Juliann P Matheny,Chanika Phornphutkul,Mary Kathryn Chambers,Joaquín A. Fernández-Ramos,Eduardo López-Laso,Michael C. Kruer,Somayeh Bakhtiari,Marcella Zollino,Manuela Morleo,Giuseppe Marangi,Davide Mei,Tiziana Pisano,Renzo Guerrini,Raymond J. Louie,Anna Childers,David B. Everman,Bertrand Isidor,Séverine Audebert-Bellanger,Sylvie Odent,Dominique Bonneau,Brigitte Gilbert-Dussardier,Richard Redon,Stéphane Bézieau,Frédéric Laumonnier,Esther T. Stoeckli,Annick Toutain,Marie-Laure Vuillaume +47 more
TL;DR: Identification of SEMA6B variants in patients presenting with an overlapping phenotype with intellectual disability, and functional studies highlight the important role of SMA6B in neuronal development, notably in spine formation and maturation, and in axon guidance.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
J. Coenen-van der Spek,R. T. Relator,Jennifer Kerkhof,H. McConkey,Michael D. Levy,Matt Tedder,Raymond J. Louie,Robin S. Fletcher,Hannah W. Moore,Anna Childers,Ellyn Farrelly,Neena L Champaigne,Michael J. Lyons,David B. Everman,R. Curtis Rogers,Steven A. Skinner,Alicia Renck,Dena R. Matalon,Shelley K. Dills,Berrin Monteleone,Serwet Demirdas,Alexander J. M. Dingemans,Laura Donker Kaat,Sharon M. Kolk,Rolph Pfundt,Patrick Rump,Bekim Sadikovic,Tjitske Kleefstra,Kameryn M. Butler +28 more
TL;DR: A novel, robust episignature has the potential to aid identification and diagnosis of individuals with WITKOS and was sensitive enough to detect individuals with varying degrees of phenotypic severity carrying SIN3A haploinsufficient variants.
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