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Journal Human mutation Issue Volume 38:Issue 12(2017)

2. Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification. Issue 12 (22nd September 2017)

Authors:
Hillmer, Morten; Summerer, Anna; Mautner, Victor‐Felix; Högel, Josef; Cooper, David N.; Kehrer‐Sawatzki, Hildegard
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1711
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype. Issue 12 (23rd September 2017)

Authors:
Chen, Li; Jensik, Philip J.; Alaimo, Joseph T.; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A.; Bernstein, Jonathan A.; Smith, Ann C. M.; Mullegama, Sureni V.; Saffen, David W.; Elsea, Sarah H.
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1774
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Higher‐than‐expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history. Issue 12 (21st September 2017)

Authors:
de Andrade, Kelvin César; Mirabello, Lisa; Stewart, Douglas R.; Karlins, Eric; Koster, Roelof; Wang, Mingyi; Gapstur, Susan M.; Gaudet, Mia M.; Freedman, Neal D.; Landi, Maria Teresa; Lemonnier, Nathanaël; Hainaut, Pierre; Savage, Sharon A.; Achatz, Maria Isabel
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1723
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. Issue 12 (26th September 2017)

Authors:
Barone, Virginia; Del Re, Valeria; Gamberucci, Alessandra; Polverino, Valentina; Galli, Lucia; Rossi, Daniela; Costanzi, Elisa; Toniolo, Luana; Berti, Gianna; Malandrini, Alessandro; Ricci, Giulia; Siciliano, Gabriele; Vattemi, Gaetano; Tomelleri, Giuliano; Pierantozzi, Enrico; Spinozzi, Simone; ...
Journal:
Human mutation
Issue:
Volume 38:Issue 12(2017)
Page Start:
1761
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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