PMC Links for Books (Select 4871972) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 69350502.

Phenotype Delineation of ZNF462 related syndrome

Paul Kruszka, Tommy Hu, Sungkook Hong, Rebecca Signer, Benjamin Cogné, Betrand Isidor, Sarah E. Mazzola, Jacques C. Giltay, Koen L.I. van Gassen, Eleina M. England, Lynn Pais, Charlotte W. Ockeloen, Pedro A. Sanchez-Lara, Esther Kinning, Darius J Adams, Kayla Treat, Wilfredo Torres-Martinez, Maria Francesca Bedeschi, Maria Iascone, Stephanie Blaney, Oliver Bell, Tiong Y. Tan, Marie-Ange Delrue, Julie Jurgens, Brenda J. Barry, Elizabeth C. Engle, Sarah K. Savage, Nicole Fleischer, Julian A. Martinez-Agosto, Kym Boycott, Elaine H. Zackai, Maximilian Muenke

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 28.

Published in final edited form as: Am J Med Genet A. 2019 Oct; 179(10): 2075–2082. Published online 2019 Jul 30. doi: 10.1002/ajmg.a.61306

PMCID:: PMC6935050

Abstract Article PDF–1.0M

Select item 61055553.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B. Everman, Koen L. van Gassen, Suleyman Gulsuner, Margaret H. Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald-McGinn, Can Thi Bich Ngoc, Amir Peleg, Elizabeth R. Roeder, R. Curtis Rogers, Lena Sagi-Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena A. Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker

Genet Med. Author manuscript; available in PMC 2018 Nov 22.

Published in final edited form as: Genet Med. 2018 Oct; 20(10): 1175–1185. Published online 2018 Feb 22. doi: 10.1038/gim.2017.249

PMCID:: PMC6105555

Abstract Article PDF–1.1M

Select item 55671534.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B Henderson, Natalie Beck, Neeti Ghali, D D D Study, Britt-Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C Jones, Sondhya Ghedia, Maximilian Muenke, Paul Kruszka

Eur J Hum Genet. 2017 Aug; 25(8): 946–951. Published online 2017 May 17. doi: 10.1038/ejhg.2017.86

PMCID:: PMC5567153

Abstract Article PDF–1.0M

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