High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A
Published in Genetics in medicine (01.04.2018)
Published in Genetics in medicine (01.04.2018)
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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity
Vanoye, Carlos G, Desai, Reshma R, Ji, Zhigang, Adusumilli, Sneha, Jairam, Nirvani, Ghabra, Nora, Joshi, Nishtha, Fitch, Eryn, Helbig, Katherine L, McKnight, Dianalee, Lindy, Amanda S, Zou, Fanggeng, Helbig, Ingo, Cooper, Edward C, George, Jr, Alfred L
Published in JCI insight (08.03.2022)
Published in JCI insight (08.03.2022)
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Journal Article
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
Lindy, Amanda S., Stosser, Mary Beth, Butler, Elizabeth, Downtain‐Pickersgill, Courtney, Shanmugham, Anita, Retterer, Kyle, Brandt, Tracy, Richard, Gabriele, McKnight, Dianalee A.
Published in Epilepsia (Copenhagen) (01.05.2018)
Published in Epilepsia (Copenhagen) (01.05.2018)
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A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
López-Rivera, Javier A, Pérez-Palma, Eduardo, Symonds, Joseph, Lindy, Amanda S, McKnight, Dianalee A, Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Møller, Rikke S, Lal, Dennis
Published in Brain (London, England : 1878) (01.04.2020)
Published in Brain (London, England : 1878) (01.04.2020)
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Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome
Lindy, Amanda S., Bupp, Caleb P., McGee, Stephen J., Steed, Erin, Stevenson, Roger E., Basehore, Monica J., Friez, Michael J.
Published in American journal of medical genetics. Part A (01.09.2014)
Published in American journal of medical genetics. Part A (01.09.2014)
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Journal Article
TRPV channel-mediated calcium transients in nociceptor neurons are dispensable for avoidance behaviour
Lindy, Amanda S., Parekh, Puja K., Zhu, Richard, Kanju, Patrick, Chintapalli, Sree V., Tsvilovskyy, Volodymyr, Patterson, Randen L., Anishkin, Andriy, van Rossum, Damian B., Liedtke, Wolfgang B.
Published in Nature communications (02.09.2014)
Published in Nature communications (02.09.2014)
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Journal Article
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1
Lindy, Amanda S., Basehore, Monica J., Munisha, Mumingjiang, Williams, Aimee Leanne, Friez, Michael J., Writzl, Karin, Willems, Patrick, Dougan, Scott T.
Published in American journal of medical genetics. Part A (01.06.2016)
Published in American journal of medical genetics. Part A (01.06.2016)
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Journal Article
A Case of Progressive Quadriceps Weakness and Elevated Creatine Kinase Level Mimicking Inclusion Body Myositis
Leung, Doris G., Taylor, Harold A., Lindy, Amanda S., Basehore, Monica J., Mammen, Andrew L.
Published in Arthritis care & research (01.02.2014)
Published in Arthritis care & research (01.02.2014)
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Conference Proceeding
An antagonistic role for the C. elegans Schnurri homolog SMA-9 in modulating TGFβ signaling during mesodermal patterning
Foehr, Marisa L., Lindy, Amanda S., Fairbank, Rachel C., Amin, Nirav M., Xu, Ming, Yanowitz, Judith, Fire, Andrew Z., Liu, Jun
Published in Development (Cambridge) (01.08.2006)
Published in Development (Cambridge) (01.08.2006)
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Journal Article
An antagonistic role for the C. elegans Schnurri homolog SMA-9 in modulating TGF[beta] signaling during mesodermal patterning
Foehr, Marisa L, Lindy, Amanda S, Fairbank, Rachel C, Amin, Nirav M, Xu, Ming, Yanowitz, Judith, Fire, Andrew Z, Liu, Jun
Published in Development (Cambridge) (01.08.2006)
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Published in Development (Cambridge) (01.08.2006)
Journal Article
An antagonistic role for the C. elegans Schnurri homolog SMA-9 in modulating TGFβ signaling during mesodermal patterning
Marisa L. Foehr, Amanda S. Lindy, Rachel C. Fairbank, Nirav M. Amin, Ming Xu, Judith Yanowitz, Andrew Z. Fire, Jun Liu
Published in Development (Cambridge) (01.08.2006)
Published in Development (Cambridge) (01.08.2006)
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Journal Article
An antagonistic role for the C. elegans Schnurri homolog SMA-9 in modulating TGFbeta signaling during mesodermal patterning
Foehr, Marisa L, Lindy, Amanda S, Fairbank, Rachel C, Amin, Nirav M, Xu, Ming, Yanowitz, Judith, Fire, Andrew Z, Liu, Jun
Published in Development (Cambridge) (01.08.2006)
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Published in Development (Cambridge) (01.08.2006)
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