Genetic Counselors’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings

por Leppert, Kristen, Bisordi, Katharine, Nieto, Jessica, Maloney, Kristin, Guan, Yue, Dixon, Shannan, Egense, Alena
Publicado 2018

Retinal dystrophies: A look beyond the eyes

por Tang, Vincent Duong, Egense, Alena, Yiu, Glenn, Meyers, Elijah, Moshiri, Ala, Shankar, Suma P.
Publicado 2022

Prader-Willi and Angelman Syndromes: Mechanisms and Management

por Ma, Van K, Mao, Rong, Toth, Jessica N, Fulmer, Makenzie L, Egense, Alena S, Shankar, Suma P
Publicado 2023

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

por Punatar, Ruchi, Egense, Alena, Mao, Rong, Procter, Melinda, Bosworth, Michelle, Quigley, Denise I., Angkustsiri, Kathleen, Shankar, Suma P.
Publicado 2022

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

por Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, Albadi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A.
Publicado 2022