Search Results - "Clause, Amanda R."

A Corticothalamic Circuit for Dynamic Switching between Feature Detection and Discrimination by Guo, Wei, Clause, Amanda R., Barth-Maron, Asa, Polley, Daniel B.

“…Sensory processing must be sensitive enough to encode faint signals near the noise floor but selective enough to differentiate between similar stimuli. Here we…”
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Differential maturation of vesicular glutamate and GABA transporter expression in the mouse auditory forebrain during the first weeks of hearing by Hackett, Troy A., Clause, Amanda R., Takahata, Toru, Hackett, Nicholas J., Polley, Daniel B.

“…Vesicular transporter proteins are an essential component of the presynaptic machinery that regulates neurotransmitter storage and release. They also provide a…”
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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy by Mohan, Shruthi, McNulty, Shannon, Thaxton, Courtney, Elnagheeb, Marwa, Owens, Emma, Flowers, May, Nunnery, Teagan, Self, Autumn, Palus, Brooke, Gorokhova, Svetlana, Kennedy, April, Niu, Zhiyv, Johari, Mridul, Maiga, Alassane Baneye, Macalalad, Kelly, Clause, Amanda R., Beckmann, Jacques S., Bronicki, Lucas, Cooper, Sandra T., Ganesh, Vijay S., Kang, Peter B., Kesari, Akanchha, Lek, Monkol, Levy, Jennifer, Rufibach, Laura, Savarese, Marco, Spencer, Melissa J., Straub, Volker, Tasca, Giorgio, Weihl, Conrad C.

“…Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity…”
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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases by Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin, Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.

“…Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of…”
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A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships by Taylor, Julie P., Malhotra, Alka, Burns, Nicole J., Clause, Amanda R., Brown, Carolyn M., Burns, Brendan T., Chandrasekhar, Anjana, Schlachetzki, Zinayida, Bennett, Maren, Thorpe, Erin, Taft, Ryan J., Perry, Denise L., Coffey, Alison J.

“…The use of whole‐genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the…”
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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico by Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.

“…Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. Patients in…”
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Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers by Mori, Mari, Clause, Amanda R, Truxal, Kristen, Hagelstrom, R Tanner, Manickam, Kandamurugu, Kaler, Stephen G, Prasad, Vinay, Windster, Jonathan, Alves, Maria M, Di Lorenzo, Carlo

“…Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous condition characterized by impaired gastrointestinal propulsion, a broad clinical spectrum,…”
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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family by Chacaltana‐Vinas, Cesar, Ramirez‐Pajares, Patricia, Manrique‐Palomino, Alid, Clause, Amanda R., Chawla, Aditi, Thorpe, Erin, Taft, Ryan, Rivera‐Valdivia, Andrea, Sarapura‐Castro, Elison, Bazalar‐Montoya, Jeny, Cornejo‐Olivas, Mario

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Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome by Muirhead, Kayla J, Clause, Amanda R, Schlachetzki, Zinayida, Dubbs, Holly, Perry, Denise L, Hagelstrom, R Tanner, Taft, Ryan J, Vanderver, Adeline

“…Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a…”
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Caudal autotomy and regeneration in lizards by Clause, Amanda R., Capaldi, Elizabeth A.

“…Caudal autotomy, or the voluntary self‐amputation of the tail, is an anti‐predation strategy in lizards that depends on a complex array of environmental,…”
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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum by McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

“…Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as…”
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels by Riggs, Erin Rooney, Bingaman, Taylor I., Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R., Dharmadhikari, Avinash V., Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R., Hughes, Madeline Y., Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin M., Mohan, Shruthi, Osei-Owusu, Ikeoluwa A., Reble, Emma, Rennie, Olivia, Savatt, Juliann M., Shimelis, Hermela, Siegert, Rebecca K., Sneddon, Tam P., Thaxton, Courtney, Toner, Kelly A., Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H., Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David T., Schaaf, Christian P.

“…Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity,…”
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