Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

por Graham, Robert J., Darras, Basil T., Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A., Miller, Weston, Beggs, Alan H.
Publicado 2023

Genetic Disorders and Mortality in Infancy and Early Childhood: Delayed Diagnoses and Missed Opportunities

por Wojcik, Monica H., Schwartz, Talia S., Yamin, Inbar, Edward, Heather L., Genetti, Casie A., Towne, Meghan C., Agrawal, Pankaj B.
Publicado 2018

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

por VanNoy, Grace E., Wojcik, Monica H., Genetti, Casie A., Mullen, Thomas E., Agrawal, Pankaj B., Stein, Deborah R.
Publicado 2020

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy

por Hayes, Leslie Hotchkiss, Perdomini, Morgane, Aykanat, Asli, Genetti, Casie A., Paterson, Heather L., Cowling, Belinda S., Freitag, Christian, Beggs, Alan H.
Publicado 2022

Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series

por Sun, Jenny, Ocay, Don Daniel, Halpin, Meghan, Lobo, Kimberly, Frohman, Dafni F. T., Donado, Carolina, Brownstein, Catherine A., Genetti, Casie A., Madden, Anna, Berde, Charles B.
Publicado 2023

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

por Hojlo, Margaret A., Ghebrelul, Merhawi, Genetti, Casie A., Smith, Richard, Rockowitz, Shira, Deaso, Emma, Beggs, Alan H., Agrawal, Pankaj B., Glahn, David C., Gonzalez-Heydrich, Joseph, Brownstein, Catherine A.
Publicado 2023

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

por Flanagan, Frances O., Holtz, Alexander M., Vargas, Sara O., Genetti, Casie A., Schmitz-Abe, Klaus, Casey, Alicia, Kennedy, John C., Raby, Benjamin A., Mullen, Mary P., Fishman, Martha P., Agrawal, Pankaj B.
Publicado 2023

Infant Mortality: the Contribution of Genetic Disorders

por Wojcik, Monica H., Schwartz, Talia S., Thiele, Katri E., Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E., VanNoy, Grace E., Genetti, Casie A., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Tan, Wen-Hann, Agrawal, Pankaj B.
Publicado 2019

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

por Armstrong, Brittan, Christensen, Kurt D., Genetti, Casie A., Parad, Richard B., Robinson, Jill Oliver, Blout Zawatsky, Carrie L., Zettler, Bethany, Beggs, Alan H., Holm, Ingrid A., Green, Robert C., McGuire, Amy L., Smith, Hadley Stevens, Pereira, Stacey
Publicado 2022

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

por Mavros, Chrystal F., Brownstein, Catherine A., Thyagrajan, Roshni, Genetti, Casie A., Tembulkar, Sahil, Graber, Kelsey, Murphy, Quinn, Cabral, Kristin, VanNoy, Grace E., Bainbridge, Matthew, Shi, Jiahai, Agrawal, Pankaj B., Beggs, Alan H., D’Angelo, Eugene, Gonzalez-Heydrich, Joseph
Publicado 2018

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

por Graham, Robert J, Muntoni, Francesco, Hughes, Imelda, Yum, Sabrina W, Kuntz, Nancy L, Yang, Michele L, Byrne, Barry J, Prasad, Suyash, Alvarez, Rachel, Genetti, Casie A, Haselkorn, Tmirah, James, Emma S, LaRusso, Laurie B, Noursalehi, Mojtaba, Rico, Salvador, Beggs, Alan H
Publicado 2020

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

por Silwal, Arpana, Sarkozy, Anna, Scoto, Mariacristina, Ridout, Deborah, Schmidt, Anne, Laverty, Aidan, Henriques, Matilde, D'Argenzio, Luigi, Main, Marion, Mein, Rachael, Manzur, Adnan Y, Abel, Francois, Al‐Ghamdi, Fouad, Genetti, Casie A, Ardicli, Didem, Haliloglu, Goknur, Topaloglu, Haluk, Beggs, Alan H, Muntoni, Francesco
Publicado 2020

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report

por Murry, Jaclyn B., Machini, Kalotina, Ceyhan-Birsoy, Ozge, Kritzer, Amy, Krier, Joel B., Lebo, Matthew S., Fayer, Shawn, Genetti, Casie A., VanNoy, Grace E., Yu, Timothy W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Beggs, Alan H., Rehm, Heidi L.
Publicado 2018

Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project

por Genetti, Casie A., Schwartz, Talia S., Robinson, Jill O., VanNoy, Grace E., Petersen, Devan, Pereira, Stacey, Fayer, Shawn, Peoples, Hayley A., Agrawal, Pankaj B., Betting, Wendi N., Holm, Ingrid A., McGuire, Amy L., Waisbren, Susan E., Yu, Timothy W., Green, Robert C., Beggs, Alan H., Parad, Richard B.
Publicado 2018

A Cross-Sectional Study of Nemaline Myopathy

por Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.
Publicado 2021

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

por Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A
Publicado 2021

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

por 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.
Publicado 2021

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

por Parikh, Jignesh R., Genetti, Casie A., Aykanat, Asli, Brownstein, Catherine A., Schmitz-Abe, Klaus, Danowski, Morgan, Quitadomo, Andrew, Madden, Jill A., Yacoubian, Calum, Gain, Richard, Williams, Tessa, Meskell, Mary, Brown, Andrew, Frith, Alison, Rockowitz, Shira, Sliz, Piotr, Agrawal, Pankaj B., Defay, Thomas, McDonagh, Paul, Reynders, John, Lefebvre, Sebastien, Beggs, Alan H.
Publicado 2021

The BabySeq project: implementing genomic sequencing in newborns

por Holm, Ingrid A., Agrawal, Pankaj B., Ceyhan-Birsoy, Ozge, Christensen, Kurt D., Fayer, Shawn, Frankel, Leslie A., Genetti, Casie A., Krier, Joel B., LaMay, Rebecca C., Levy, Harvey L., McGuire, Amy L., Parad, Richard B., Park, Peter J., Pereira, Stacey, Rehm, Heidi L., Schwartz, Talia S., Waisbren, Susan E., Yu, Timothy W., Green, Robert C., Beggs, Alan H.
Publicado 2018

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

por Volpatti, Jonathan R., Ghahramani-Seno, Mehdi M., Mansat, Mélanie, Sabha, Nesrin, Sarikaya, Ege, Goodman, Sarah J., Chater-Diehl, Eric, Celik, Alper, Pannia, Emanuela, Froment, Carine, Combes-Soia, Lucie, Maani, Nika, Yuki, Kyoko E., Chicanne, Gaëtan, Uusküla-Reimand, Liis, Monis, Simon, Alvi, Sana Akhtar, Genetti, Casie A., Payrastre, Bernard, Beggs, Alan H., Bonnemann, Carsten G., Muntoni, Francesco, Wilson, Michael D., Weksberg, Rosanna, Viaud, Julien, Dowling, James J.
Publicado 2022