Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
Kraszewski, Jennifer N, Kay, Denise M, Stevens, Colleen F, Koval, Carrie, Haser, Bianca, Ortiz, Veronica, Albertorio, Anthony, Cohen, Lilian L, Jain, Ritu, Andrew, Sarah P, Young, Sally Dunaway, LaMarca, Nicole M, De Vivo, Darryl C, Caggana, Michele, Chung, Wendy K
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient
Conway, Jade, Henry, Tanya J., Cohen, Lilian L., Ricardo, Jose W., Lipner, Shari R.
Published in JAAD Case Reports (01.01.2024)
Published in JAAD Case Reports (01.01.2024)
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Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study
Tavakoli, Norma P., Gruber, Dorota, Armstrong, Niki, Chung, Wendy K., Maloney, Breanne, Park, Sunju, Wynn, Julia, Koval‐Burt, Carrie, Verdade, Lorraine, Tegay, David H., Cohen, Lilian L., Shapiro, Natasha, Kennedy, Annie, Noritz, Garey, Ciafaloni, Emma, Weinberger, Barry, Ellington, Marty, Schleien, Charles, Spinazzola, Regina, Sood, Sunil, Brower, Amy, Lloyd‐Puryear, Michele, Caggana, Michele, Laureta, Emma Cecilia M., Rochelson, Burton L, Hogan, Katherine A.
Published in Annals of clinical and translational neurology (01.08.2023)
Published in Annals of clinical and translational neurology (01.08.2023)
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Translating Advances in Cardiogenetics Into Effective Clinical Practice
Silverstein, Louise Bordeaux, Stolerman, Marina, Hidayatallah, Nadia, McDonald, Thomas, Walsh, Christine A., Paljevic, Esma, Cohen, Lilian L., Marion, Robert W., Wasserman, David, Dolan, Siobhan M.
Published in Qualitative health research (01.10.2014)
Published in Qualitative health research (01.10.2014)
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Psychological stress associated with cardiogenetic conditions
Hidayatallah, Nadia, Silverstein, Louise B, Stolerman, Marina, McDonald, Thomas, Walsh, Christine A, Paljevic, Esma, Cohen, Lilian L, Marion, Robert W, Wasserman, David, Hreyo, Sarah, Dolan, Siobhan M
Published in Personalized medicine (01.09.2014)
Published in Personalized medicine (01.09.2014)
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M, Suchy, Sharon F, Begtrup, Amber, Langley, Katherine G, Hernan, Rebecca, Amendola, Laura M, Boyd, Brenna M, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L, Coffey, Alison J, Devaney, Joseph M, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L, Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean, Hruska, Kathleen S, Hu, Zhanzhi, Jeanne, Médéric, Jin, Guanjun, Johnson, D Aaron, Kavus, Haluk, Leibel, Rudolph L, Lobritto, Steven J, McGee, Stephen, Milner, Joshua D, McWalter, Kirsty, Monaghan, Kristin G, Orange, Jordan S, Pimentel Soler, Nicole, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shah, Ankur, Shapiro, Natasha, Sicko, Robert J, Silver, Eric S, Strom, Samuel, Torene, Rebecca I, Williams, Olatundun, Ustach, Vincent D, Wynn, Julia, Taft, Ryan J, Kruszka, Paul, Caggana, Michele, Chung, Wendy K
Published in JAMA : the journal of the American Medical Association (24.10.2024)
Published in JAMA : the journal of the American Medical Association (24.10.2024)
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