New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2
Schnur, Rhonda E., Dvořáček, Lukáš, Kalsner, Louisa, Shapiro, Faye L., Grebeňová, Dana, Yanni, Diana, Wasserman, Barry N., Agrawal, Pankaj, Parker, Margaret, Yu, Timothy, Douglas, Jessica, Young, Vanessa, D'Gama, Alissa, Hills, Sonia, Wojcik, Monika, Brownstein, Catherine, Genetti, Casie, Schmith‐Abe, Klaus, Dyer, Lisa M., Antonarakis, Stylianos E., Kuželová, Kateřina
Published in Clinical genetics (01.10.2024)
Published in Clinical genetics (01.10.2024)
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SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Malbos, Marlène, Vera, Gabriella, Sheth, Harsh, Schnur, Rhonda E, Juven, Aurélien, Brehin, Anne-Claire, Sheth, Jayesh, Gandhi, Ajit, Shapiro, Faye L, Bruel, Ange-Line, Marguet, Florent, Begtrup, Amber, Monaghan, Kristin G, Safraou, Hana, Brasseur-Daudruy, Marie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel, Benke, Paul J, Philippe, Christophe
Published in Clinical genetics (21.08.2024)
Published in Clinical genetics (21.08.2024)
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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Bai, Renkui, Cui, Hong, Devaney, Joseph M., Allis, Katrina M., Balog, Amanda M., Liu, Xinyue, Schnur, Rhonda E., Shapiro, Faye L., Brautbar, Ariel, Estrada-Veras, Juvianee I., Hochstetler, Laurel, McConkie-Rosell, Allyn, McDonald, Marie T., Solomon, Benjamin D., Hofherr, Sean, Richard, Gabriele, Suchy, Sharon F.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study
D'Gama, Alissa M, Hills, Sonia, Douglas, Jessica, Young, Vanessa, Genetti, Casie A, Wojcik, Monica H, Feldman, Henry A, Yu, Timothy W, G Parker, Margaret, Agrawal, Pankaj B, Agrawal, Pankaj, Allcroft, Tyler, Bhandari, Vineet, Cantu, Luis, D’Gama, Alissa M, Douglas, Jessica, Feldman, Henry A, Genetti, Casie A, Hills, Sonia, Honrubia, Dynio, Kritzer, Amy, Parker, Margaret, Rhein, Lawrence, Rothstein, Robert, Salinas, Odalys, Santana, Andres, Serna, Anyssa, Shapiro, Faye, Shenoy, Anjana Bhami, Simoncini, Lindsey, Sinha, Bharati, Verran, Aubrie Soucy, Sousa, Anéya, Wojcik, Monica H, Young, Vanessa, Yu, Timothy, Li, Qifei, Brownstein, Catherine, Schmitz-Abe, Klaus, Tamase Newsam, Marione
Published in BMJ open (06.02.2024)
Published in BMJ open (06.02.2024)
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“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs
D’Gama, Alissa M., Wojcik, Monica H., Hills, Sonia, Douglas, Jessica, Agrawal, Pankaj, Allcroft, Tyler, Bhandari, Vineet, Brownstein, Catherine, Cantu, Luis, D’Gama, Alissa M., Douglas, Jessica, Feldman, Henry A., Genetti, Casie A., Hills, Sonia, Honrubia, Dynio, Kritzer, Amy, Li, Qifei, Parker, Margaret, Rhein, Lawrence, Rothstein, Robert, Salinas, Odalys, Santana, Andres, Schmitz-Abe, Klaus, Serna, Anyssa, Shapiro, Faye, Shenoy, Anjana Bhami, Simoncini, Lindsey, Sinha, Bharati, Verran, Aubrie Soucy, Sousa, Anéya, Tamase Newsam, Marione, Wojcik, Monica H., Young, Vanessa, Yu, Timothy, Yu, Timothy W., Agrawal, Pankaj B., Parker, Margaret G.
Published in Genetics in medicine (01.09.2024)
Published in Genetics in medicine (01.09.2024)
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700: Jewish genetic diseases: larger screening panel increases the aggregate carrier rate in the Ashkenazi Jewish population
Schneider, Adele, Barbouth, Deborah, Shapiro, Faye, Wasserman, Debra, Grinzaid, Karen, Rosen, Shoshana, Fernhoff, Paul, Cohen, Arnold, Hoffman, Jodi
Published in American journal of obstetrics and gynecology (2012)
Published in American journal of obstetrics and gynecology (2012)
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Journal Article
Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors
Berliner, J L, Shapiro, F N, Nolin, S L, Houck, Jr, G E, Ding, X H, Dobkin, C, Brooks, S S, Brown, W T
Published in Journal of genetic counseling (01.09.1994)
Published in Journal of genetic counseling (01.09.1994)
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