Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

por Bayanbold, Khaliunaa, Younger, Georgianne, Darbro, Benjamin, Sidhu, Alpa
Publicado 2023

Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature

por Leary, Steven, Porterfield, Harry S., Kotlarek, Jaclyn R., Darbro, Benjamin W., Sidhu, Alpa
Publicado 2019

Interstitial duplication of 20q11.22q13.11: A case report and review of literature

por Goetzinger, Logan, Starks, Rachel D., Dillahunt, Kyle, Major, Heather, Nagy, Jaime M., Sidhu, Alpa
Publicado 2021

Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report

por Tung, Moon Ley, Chandra, Bharatendu, Dillahunt, Kyle, Gosse, Matthew D., Sato, T. Shawn, Sidhu, Alpa
Publicado 2022

Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia

por Finn, Julia, Suhl, Jonathan, Kancherla, Vijaya, Conway, Kristin M., Oleson, Jacob, Sidhu, Alpa, Nestoridi, Eirini, Fisher, Sarah C., Rasmussen, Sonja A., Yang, Wei, Romitti, Paul A.
Publicado 2022

Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects

por Suhl, Jonathan, Conway, Kristin M, Rhoads, Anthony, Langlois, Peter H, Feldkamp, Marcia L, Michalski, Adrian M, Oleson, Jacob J, Sidhu, Alpa, Kancherla, Vijaya, Obrycki, John, Mazumdar, Maitreyi, Romitti, Paul A
Publicado 2023

Prepregnancy exposure to dietary arsenic and congenital heart defects

por Suhl, Jonathan, Conway, Kristin M., Rhoads, Anthony, Langlois, Peter H., Feldkamp, Marcia L., Michalski, Adrian M., Oleson, Jacob, Sidhu, Alpa, Scholz, Thomas D., Kancherla, Vijaya, Obrycki, John, Mazumdar, Maitreyi, Romitti, Paul A.
Publicado 2022

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

por Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Škrjanec Pušenjak, Maruša, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.
Publicado 2021

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

por Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.
Publicado 2022

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

por Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N., Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S., Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K., Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M., Seitz, Barbara, Robin, Nathaniel H., Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F. Lucy, Gilmore, Kelly, Powell, Bradford C., Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T., Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L., Davis, Erica E., Burdine, Rebecca, Bhoj, Elizabeth
Publicado 2023