Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation

Authors: Corbo, Allyson, Tzeng, Janice P., Scott, Samantha, Cheves, Emily, Cope, Heidi, Peay, Holly

Source: In Research in Developmental Disabilities May 2024 148

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P536: Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy

Authors: Peay, Holly, Kucera, Katerina, Scott, Samantha, Cheves, Emily

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P514: Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check

Authors: Cope, Heidi, Wright, Rebecca, Forsythe, Ana, Moultrie, Rebecca, Andrews, Sara, Scott, Samantha, Wiggins, Sa'Nealdra, Crissman, Blythe, Cheves, Emily, Raspa, Melissa, Gehtland, Lisa, Law, Jennifer, Powell, Cynthia, Peay, Holly

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Authors: Potter, Sarah Nelson, Reynolds, Elizabeth, Okoniewski, Katherine C., Edwards, Anne, Gable, Julia, Hill, Christine, Bakalov, Vesselina, Zentz, Stephanie, Whiting, Carolyne, Cheves, Emily, Garbarini, Katie, Jalazo, Elizabeth, Howell, Carrie, Moore, Amanda, Wheeler, Anne

Source: Therapeutic Advances in Rare Disease; Jan-Dec2024, Vol. 5, p1-14, 14p

Pilot protocol for the Parent and Infant Inter(X)action Intervention (PIXI) feasibility study.

Authors: Wheeler, Anne C., Okoniewski, Katherine C., Scott, Samantha, Edwards, Anne, Cheves, Emily, Turner-Brown, Lauren

Source: PLoS ONE; 5/4/2023, Vol. 18 Issue 5, p1-17, 17p

Subject Terms: PARENT-infant relationships, INFANT development, FEASIBILITY studies, INFANTS, PSYCHOEDUCATION, PILOT projects, CAREGIVERS

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