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Items: 2

1.
Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard I. Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson, Lance H. Rodan, Mary-Alice Abbott, Anne Comi, Julie S. Cohen, Bader Alhaddad, Thomas Meitinger, Dominic Lenz, Andreas Ziegler, Urania Kotzaeridou, Theresa Brunet, Anna Chassevent, Constance Smith-Hicks, Joseph Ekstein, Tzvi Weiden, Andreas Hahn, Nazira Zharkinbekova, Peter Turnpenny, Arianna Tucci, Melissa Yelton, Rita Horvath, Serdal Gungor, Semra Hiz, Yavuz Oktay, Hanns Lochmuller, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Vincenzo Nigro, Annalaura Torella, Michele Pinelli, Simona Amenta, Ralf A. Husain, Benita Grossmann, Marion Rapp, Claudia Steen, Iris Marquardt, Mona Grimmel, Ute Grasshoff, G. Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Francesca Clementina Radio, Cecilia Mancini, Dianela Judith Claps Sepulveda, Kirsty McWalter, Amber Begtrup, Amy Crunk, Maria J. Guillen Sacoto, Richard Person, Rhonda E. Schnur, Maria Margherita Mancardi, Florian Kreuder, Pasquale Striano, Federico Zara, Wendy K. Chung, Warren A. Marks, Clare L. van Eyk, Dani L. Webber, Mark A. Corbett, Kelly Harper, Jesia G. Berry, Alastair H. MacLennan, Jozef Gecz, Marco Tartaglia, Vincenzo Salpietro, John Christodoulou, Jan Kaslin, Sergio Padilla-Lopez, Kaya Bilguvar, Alexander Munchau, Zubair M. Ahmed, Robert B. Hufnagel, Michael C. Fahey, Reza Maroofian, Henry Houlden, Heinrich Sticht, Shrikant M. Mane, Aboulfazl Rad, Barbara Vona, Sheng Chih Jin, Tobias B. Haack, Christine Makowski, Yoel Hirsch, Saima Riazuddin, Michael C. Kruer
Am J Hum Genet. 2021 Oct 7; 108(10): 2006–2016. Published online 2021 Oct 8. doi: 10.1016/j.ajhg.2021.08.003
PMCID:
PMC8546233
2.
Michael Tzeng, Christèle du Souich, Helen Wing-Hong Cheung, Cornelius F. Boerkoel
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2014 Jul; 164A(7): 1808–1814. Published online 2014 Apr 3. doi: 10.1002/ajmg.a.36533
PMCID:
PMC5671763

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