Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Ganapathi, Mythily, Matsuoka, Leticia S, March, Michael, Li, Dong, Brokamp, Elly, Benito-Sanz, Sara, White, Susan M, Lachlan, Katherine, Ahimaz, Priyanka, Sewda, Anshuman, Bastarache, Lisa, Thomas-Wilson, Amanda, Stoler, Joan M, Bramswig, Nuria C, Baptista, Julia, Stals, Karen, Demurger, Florence, Cogne, Benjamin, Isidor, Bertrand, Bedeschi, Maria Francesca, Peron, Angela, Amiel, Jeanne, Zackai, Elaine, Schacht, John P, Iglesias, Alejandro D, Morton, Jenny, Schmetz, Ariane, Seidel, Verónica, Lucia, Stephanie, Baskin, Stephanie M, Thiffault, Isabelle, Cogan, Joy D, Gordon, Christopher T, Chung, Wendy K, Bowdin, Sarah, Bhoj, Elizabeth
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases
Vuocolo, Blake, German, Ryan, Bacino, Carlos, Murali, Chaya, Lalani, Seema, Baskin, Stephanie, Roeder, Elizabeth, Schmid, Carrie, McLean, Scott, Littlejohn, Rebecca, Juarez, Olivia, Stuebben, Melissa, Vossaert, Liesbeth, Owen, Nichole, Eng, Christine, Liu, Pengfei, Liu, Zhandong, Mao, Dongxue, Kim, Seon Young, Pasupuleti, Sasidhar, Yamamoto, Shinya, Bellen, Hugo, Wangler, Michael
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Improving access to exome sequencing in a medically underserved population through the Texome Project
Vuocolo, Blake, German, Ryan J., Lalani, Seema R., Murali, Chaya N., Bacino, Carlos A., Baskin, Stephanie, Littlejohn, Rebecca, Odom, John D., McLean, Scott, Schmid, Carrie, Nutter, Morgan, Stuebben, Melissa, Magness, Emily, Juarez, Olivia, El Achi, Dina, Mitchell, Bailey, Glinton, Kevin E., Robak, Laurie, Nagamani, Sandesh C.S., Saba, Lisa, Ritenour, Adasia, Zhang, Lilei, Streff, Haley, Chan, Katie, Kemere, K. Jordan, Carter, Kent, Mao, Dongxue, Kim, Seon Young, Pasupuleti, Sasidhar, Liu, Zhandong, Yamamoto, Shinya, Owen, Nichole, Vossaert, Liesbeth, Liu, Pengfei, Bellen, Hugo, Wangler, Michael F.
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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