Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M, Nori, Neeharika, Madden, Jill A, Genetti, Casie A, Wojcik, Monica H, Ponnaluri, Sadhana, Gubbels, Cynthia S, Picker, Jonathan D, O'Donnell-Luria, Anne H, Yu, Timothy W, Bodamer, Olaf, Brownstein, Catherine A, Beggs, Alan H, Agrawal, Pankaj B
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
O'Connell, Amy E, Gerashchenko, Maxim V, O'Donohue, Marie-Francoise, Rosen, Samantha M, Huntzinger, Eric, Gleeson, Diane, Galli, Antonella, Ryder, Edward, Cao, Siqi, Murphy, Quinn, Kazerounian, Shideh, Morton, Sarah U, Schmitz-Abe, Klaus, Gladyshev, Vadim N, Gleizes, Pierre-Emmanuel, Séraphin, Bertrand, Agrawal, Pankaj B
Published in PLoS genetics (01.02.2019)
Published in PLoS genetics (01.02.2019)
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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
Li, Qifei, Dibus, Michal, Casey, Alicia, Yee, Christina S K, Vargas, Sara O, Luo, Shiyu, Rosen, Samantha M, Madden, Jill A, Genetti, Casie A, Brabek, Jan, Brownstein, Catherine A, Kazerounian, Shideh, Raby, Benjamin A, Schmitz-Abe, Klaus, Kennedy, John C, Fishman, Martha P, Mullen, Mary P, Taylor, Joan M, Rosel, Daniel, Agrawal, Pankaj B
Published in PLoS genetics (07.07.2021)
Published in PLoS genetics (07.07.2021)
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Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation
Li, Qifei, Lin, Jasmine, Rosen, Samantha M., Zhang, Tian, Kazerounian, Shideh, Luo, Shiyu, Agrawal, Pankaj B.
Published in The American journal of pathology (01.12.2020)
Published in The American journal of pathology (01.12.2020)
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SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling
Huntoon, Virginia, Widrick, Jeffrey J, Sanchez, Colline, Rosen, Samantha M, Kutchukian, Candice, Cao, Siqi, Pierson, Christopher R, Liu, Xiaoli, Perrella, Mark A, Beggs, Alan H, Jacquemond, Vincent, Agrawal, Pankaj B
Published in Human molecular genetics (01.05.2018)
Published in Human molecular genetics (01.05.2018)
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