The usefulness of whole-exome sequencing in routine clinical practice
Iglesias, Alejandro, Anyane-Yeboa, Kwame, Wynn, Julia, Wilson, Ashley, Truitt Cho, Megan, Guzman, Edwin, Sisson, Rebecca, Egan, Claire, Chung, Wendy K.
Published in Genetics in medicine (01.12.2014)
Published in Genetics in medicine (01.12.2014)
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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Le Caignec, Cédric, Gérard, Marion, Dieterich, Klaus, Truitt Cho, Megan, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
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Journal Article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Truitt Cho, Megan, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Sukoff Rizzo, Stacey J, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng
Published in Human molecular genetics (15.12.2017)
Published in Human molecular genetics (15.12.2017)
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Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Le Caignec, Cédric, Gérard, Marion, Dieterich, Klaus, Truitt Cho, Megan, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability
Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K
Published in Rare diseases (Austin, Tex.) (01.01.2013)
Published in Rare diseases (Austin, Tex.) (01.01.2013)
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Development and validation of the Psychological Adaptation Scale (PAS): Use in six studies of adaptation to a health condition or risk
Biesecker, Barbara B, Erby, Lori H, Woolford, Samuel, Adcock, Jessica Young, Cohen, Julie S, Lamb, Amanda, Lewis, Katie V, Truitt, Megan, Turriff, Amy, Reeve, Bryce B
Published in Patient education and counseling (01.11.2013)
Published in Patient education and counseling (01.11.2013)
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Journal Article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
Peng, Yanyan, Shinde, Deepali N, Alexander Valencia, C, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng
Published in Human molecular genetics (15.06.2018)
Published in Human molecular genetics (15.06.2018)
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Through the viewfinder : Positive exposure a year later: Toward evidence-based genetic counseling
SUTTON, Erica J, ROSAPEP, Lauren, BALL, Karen, TRUITT, Megan, BIESECKER, Barbara, GUIDOTTI, Rick, MCLEAN, Diane
Published in American journal of medical genetics. Part C, Seminars in medical genetics (2006)
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Published in American journal of medical genetics. Part C, Seminars in medical genetics (2006)
Journal Article
Variants in MED12L, encodinga subunit of the mediator kinase module, are responsible for intellectual disabilityassociated with transcriptional defect
Nizon Mathilde, Laugel Vincent, Flanigan, Kevin M, Pastore, Matthew, Waldrop, Megan A, Rosenfeld, Jill A, Marom Ronit, Xiao, Rui, Gerard, Amanda, Pichon Olivier, Le Caignec Cédric, Marion, Gérard, Dieterich, Klaus, Truitt, Cho Megan, McWalter Kirsty, Hiatt, Susan, Thompson, Michelle L, Bézieau Stéphane, Wadley Alexandrea, Wierenga, Klaas J, Egly Jean-Marc, Bertrand, Isidor
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
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