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Author/Creator Huether, R.

1. Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes. (16th October 2016)

Authors:
Pesaran, T.; Karam, R.; Huether, R.; Li, S.; Farber-Katz, S.; Chamberlin, A.; Chong, H.; LaDuca, H.; Elliott, A.
Other Names:
Kahán Zsuzsanna Academic Editor.
Journal:
International journal of breast cancer
Issue:
Volume 2016(2016)
Page Start:
Record Type:
Journal Article
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2. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Issue 5 (10th October 2016)

Authors:
Cohen, J.S.; Srivastava, S.; Farwell Hagman, K.D.; Shinde, D.N.; Huether, R.; Darcy, D.; Wallerstein, R.; Houge, G.; Berland, S.; Monaghan, K.G.; Poretti, A.; Wilson, A.L.; Chung, W.K.; Fatemi, A.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 5(2017)
Page Start:
697
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Issue 4 (7th January 2018)

Authors:
Powis, Z.; Farwell Hagman, K.D.; Mroske, C.; McWalter, K.; Cohen, J.S.; Colombo, R.; Serretti, A.; Fatemi, A.; David, K.L.; Reynolds, J.; Immken, L.; Nagakura, H.; Cunniff, C.M.; Payne, K.; Barbaro‐Dieber, T.; Gripp, K.W.; Baker, L.; Stamper, T.; Aleck, K.A.; Jordan, E.S.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 4(2018)
Page Start:
752
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Issue 5 (25th January 2018)

Authors:
Powis, Z.; Petrik, I.; Cohen, J.S.; Escolar, D.; Burton, J.; van Ravenswaaij‐Arts, C.M.A.; Sival, D.A.; Stegmann, A.P.A.; Kleefstra, T.; Pfundt, R.; Chikarmane, R.; Begtrup, A.; Huether, R.; Tang, S.; Shinde, D.N.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1030
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗