Elevated Leukodystrophy Incidence Predicted From Genomics Databases
Soderholm, Haille E., Chapin, Alexander B., Bayrak-Toydemir, Pinar, Bonkowsky, Joshua L.
Published in Pediatric neurology (01.10.2020)
Published in Pediatric neurology (01.10.2020)
Get full text
Journal Article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
Get full text
Journal Article
OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory
Zhao, Jian, Zoe, Lewis, Reich, Daniel, Chapin, Alexander, Clayton, Adam, Clyde, Benjamin, Cox, Julie, Fulmer, Makenzie, Hong, Bo, Lamb, Allen, Mani, Coumarane, Pizzo, Lucilla, Quigley, Denise, Rushton, Patricia, Schultz, Roger, Tidwell, Timothy, Wen, Ting, Mendoza, Cinthya Zepeda, Andersen, Erica
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
Get full text
Journal Article
Synaptic neurotransmission protein UNC-13 affects RNA interference in neurons
Chapin, Alexander, Correa, Paola, Maguire, Meghan, Kohn, Rebecca
Published in Biochemical and biophysical research communications (23.03.2007)
Published in Biochemical and biophysical research communications (23.03.2007)
Get full text
Journal Article