O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations

Authors: Muhammed Cagri Bayraktutan, Abigail Sveden, Raymond Belanger, Ellen Hanson, Jack Murray, Edward Yang, Jada Cameron, Elizabeth Buttermore, Dustin Gable, Kellen Winden, Celia Tam, Vikram Prakash, Laura Trujillano, Himanshu Goel, Charlotte von der Lippe, Amelle Shillington, Yvan Herenger, Britton Zuccarelli, Linda Rosetti, Kendra Engleman, Tinatin Tkemaladze, Robert Maiwald, Amaia Lasa Aranzasti, Christopher Barnett, Marco Tartaglia, Seema Lalani, Wen-Hann Tan, Jeanne Amiel, Christopher Gordon, Mustafa Sahin, Maya Chopra

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 102108- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425001475; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/4465d2636cc4471a84e8c3b5dc7c28a4

P207: Comprehensive phenotypic spectrum of MED13L syndrome: Insights from literature and the National Brain Gene Registry

Authors: Muhammed Cagri Bayraktutan, Abigail Sveden, Sonal Mahida, Maya Chopra

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 102172- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425002110; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/a7f14adf3a3b453a991a2393825f0e0c

The Brain Gene Registry: a data snapshot

Authors: Dustin Baldridge, Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta, Inez Oh, Virginia Lanzotti, Daleep Grewal, Erin Rooney Riggs, Juliann M. Savatt, Rachel Hauck, Abigail Sveden, the Brain Gene Registry Consortium, John N. Constantino, Joseph Piven, Christina A. Gurnett, Maya Chopra, Heather Hazlett, Philip R. O. Payne

Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-14 (2024)

Subject Terms: Brain gene registry, Neurodevelopmental disorders, Electronic health records, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/c91cc2f5915d408b8ccfe4e165650b1d

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders

Authors: Alexandra Santana Almansa, Dustin L. Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan, Maya Chopra, Sara A. Lewis, Michael Kruer, Annapurna Poduri, Siddharth Srivastava

Source: Annals of Clinical and Translational Neurology, Vol 11, Iss 2, Pp 251-262 (2024)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/178ffed6ae024256808885642165fd18

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Authors: Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler

Source: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/20bcc638047441c3919ace2b384c0600