Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del; Del Campo, Miguel; Jones, Marilyn C.; Abdul‐Rahman, Omar; Alkuraya, Fowzan S.; Bassetti, Jennifer A.; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D.; Derar, Nada; Gripp, Karen W.; Hauser, Natalie; Innes, A. Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J.; Rahbeeni, Zuhair; Ben‐Shachar, Shay; Shieh, Joseph T.; Slavotinek, Anne; Sobering, Andrew K.; Abbott, Mary‐Alice; Allain, Dawn C.; Amlie‐Wolf, Louise; Au, Ping Yee Billie; Billie Au, Ping Yee; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A.; Cytrynbaum, Cheryl; Chung, Brian Hon‐Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores‐Daboub, Josue A.; Dubbs, Holly; Felix, Carolyn A.; Fong, Chin‐To; Fung, Jasmine Lee-Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K.; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui‐Yan; Jobling, Rebekah K.; Knight Johnson, Amy E.; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D. Ross; Mentch, Frank D.; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F.; Porazzi, Patrizia; Pichurin, Pavel N.; Powell‐Hamilton, Nina N.; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J.; Falk, Marni J.; Hakonarson, Hakon; Zackai, Elaine H.; Quintero‐Rivera, Fabiola

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Sarah Sheppard
Sheppard et al., 2021

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Elsevier, Molecular Genetics and Metabolism, (132), p. S183, 2021

DOI: 10.1016/s1096-7192(21)00373-5

Wiley, The American Journal of Medical Genetics - Part A, 6(185), p. 1649-1665, 2021

DOI: 10.1002/ajmg.a.62124

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@article{Sheppard2021,
  author = {Sheppard, Sarah E. and Campbell, Ian M. and Harr, Margaret H. and Gold, Nina and Li, Dong and Bjornsson, Hans T. and Cohen, Julie S. and Fahrner, Jill A. and Fatemi, Ali and Harris, Jacqueline R. and Nowak, Catherine and Stevens, Cathy A. and Grand, Katheryn and Au, Margaret and Graham, John M. and Sanchez‐Lara, Pedro A. and Campo, Miguel Del and Del Campo, Miguel and Jones, Marilyn C. and Abdul‐Rahman, Omar and Alkuraya, Fowzan S. and Bassetti, Jennifer A. and Bergstrom, Katherine and Bhoj, Elizabeth and Dugan, Sarah and Kaplan, Julie D. and Derar, Nada and Gripp, Karen W. and Hauser, Natalie and Innes, A. Micheil and Keena, Beth and Kodra, Neslida and Miller, Rebecca and Nelson, Beverly and Nowaczyk, Malgorzata J. and Rahbeeni, Zuhair and Ben‐Shachar, Shay and Shieh, Joseph T. and Slavotinek, Anne and Sobering, Andrew K. and Abbott, Mary‐Alice and Allain, Dawn C. and Amlie‐Wolf, Louise and Au, Ping Yee Billie and Billie Au, Ping Yee and Bedoukian, Emma and Beek, Geoffrey and Barry, James and Berg, Janet and Bernstein, Jonathan A. and Cytrynbaum, Cheryl and Chung, Brian Hon‐Yin and Donoghue, Sarah and Dorrani, Naghmeh and Eaton, Alison and Flores‐Daboub, Josue A. and Dubbs, Holly and Felix, Carolyn A. and Fong, Chin‐To and Fung, Jasmine Lee-Fong and Gangaram, Balram and Goldstein, Amy and Greenberg, Rotem and Ha, Thoa K. and Hersh, Joseph and Izumi, Kosuke and Kallish, Staci and Kravets, Elijah and Kwok, Pui‐Yan and Jobling, Rebekah K. and Knight Johnson, Amy E. and Kushner, Jessica and Lee, Bo Hoon and Levin, Brooke and Lindstrom, Kristin and Manickam, Kandamurugu and Mardach, Rebecca and McCormick, Elizabeth and McLeod, D. Ross and Mentch, Frank D. and Minks, Kelly and Muraresku, Colleen and Nelson, Stanley F. and Porazzi, Patrizia and Pichurin, Pavel N. and Powell‐Hamilton, Nina N. and Powis, Zoe and Ritter, Alyssa and Rogers, Caleb and Rohena, Luis and Ronspies, Carey and Schroeder, Audrey and Stark, Zornitza and Starr, Lois and Stoler, Joan and Suwannarat, Pim and Velinov, Milen and Weksberg, Rosanna and Wilnai, Yael and Zadeh, Neda and Zand, Dina J. and Falk, Marni J. and Hakonarson, Hakon and Zackai, Elaine H. and Quintero‐Rivera, Fabiola},
  doi = {10.1016/s1096-7192(21)00373-5},
  journal = {The American Journal of Medical Genetics - Part A},
  month = {mar},
  pages = {1649-1665},
  title = {Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome},
  url = {https://oadoi.org/10.1016/s1096-7192(21)00373-5},
  volume = {185},
  year = {2021}
}

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