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Deborah Bartholdi on Muck Rack

Deborah Bartholdi

As seen in: Journal of Medical Genetics (JMG), The American Journal of Human Genetics
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Articles

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism

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By Debora Tibbe, Marie Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony El Sabbagh, Aida M. Bertoli-Avella, Elizabeth Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Andreas R. Janecke, Nikolay N. Zernov, Maria Arismendi, Alexander A.L. Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche, Moneef Shoukier, Christoph Bagowski, Salem Alawbathani, Elisabeth Steichen-Gersdorf, Anatoly Tiulpakov
| The American Journal of Human Genetics Verified
Keywords DNA replication hypomorphic variants microcephaly checkpoint sister chromatid cohesion WDHD1 DNA replication stress genomic integrity Meier-Gorlin syndrome replication fork Introduction Duplication of genomic material is essential for cellular proliferation and is initiated at origins of replication during the late G1 phase of the cell cycle, followed by efficient DNA synthesis in the subsequent S phase.
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

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By Guilherme Lopes Yamamoto, Tiago Silva, Letícia Rocha, Deborah Bartholdi
| Journal of Medical Genetics (JMG)
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

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By Guilherme Lopes Yamamoto, Tiago Silva, Letícia Rocha, Deborah Bartholdi
| Journal of Medical Genetics (JMG)
Ricardo Di Lazzaro Filho1,2, Guilherme Lopes Yamamoto2,3, Tiago J Silva4, Leticia A Rocha1, Bianca D W Linnenkamp3, http://orcid.org/0000-0003-0335-8799Matheus Augusto Araújo Castro3, Deborah Bartholdi5, http://orcid.org/0000-0001-5174-5764André Schaller5, Tosso Leeb6, Samantha Kelmann3, Claudia Y Utagawa7, Carlos E Steiner8, Leandra Steinmetz3, Rachel Sayuri Honjo3, Chong Ae Kim3, Lisa Wang9, Raphaël Abourjaili-Bilodeau10, http://orcid.org/0000-0001-9713-7107Philippe Campeau11,...
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