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Is Part Of Human mutation. Volume 36:Issue 12(2015:Dec.)

1. A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia. Issue 12 (14th September 2015)

Authors:
Zanni, Ginevra; Kalscheuer, Vera M.; Friedrich, Andreas; Barresi, Sabina; Alfieri, Paolo; Di Capua, Matteo; Haas, Stefan A.; Piccini, Giorgia; Karl, Thomas; Klauck, Sabine M.; Bellacchio, Emanuele; Emma, Francesco; Cappa, Marco; Bertini, Enrico; Breitenbach‐Koller, Lore
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1155
Record Type:
Journal Article
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3. Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1. Issue 12 (10th September 2015)

Authors:
Guy, Michael P.; Shaw, Marie; Weiner, Catherine L.; Hobson, Lynne; Stark, Zornitza; Rose, Katherine; Kalscheuer, Vera M.; Gecz, Jozef; Phizicky, Eric M.
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1176
Record Type:
Journal Article
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4. Functional Analysis of BARD1 Missense Variants in Homology‐Directed Repair of DNA Double Strand Breaks. Issue 12 (22nd September 2015)

Authors:
Lee, Cindy; Banerjee, Tapahsama; Gillespie, Jessica; Ceravolo, Amanda; Parvinsmith, Matthew R.; Starita, Lea M.; Fields, Stanley; Toland, Amanda E.; Parvin, Jeffrey D.
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1205
Record Type:
Journal Article
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5. GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Issue 12 (23rd September 2015)

Authors:
Jensen, Braden S.; Willer, Tobias; Saade, Dimah N.; Cox, Mary O.; Mozaffar, Tahseen; Scavina, Mena; Stefans, Vikki A.; Winder, Thomas L.; Campbell, Kevin P.; Moore, Steven A.; Mathews, Katherine D.
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1159
Record Type:
Journal Article
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6. Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1. Issue 12 (1st October 2015)

Authors:
Coppieters, Frauke; Todeschini, Anne Laure; Fujimaki, Takuro; Baert, Annelot; De Bruyne, Marieke; Van Cauwenbergh, Caroline; Verdin, Hannah; Bauwens, Miriam; Ongenaert, Maté; Kondo, Mineo; Meire, Françoise; Murakami, Akira; Veitia, Reiner A.; Leroy, Bart P.; De Baere, Elfride
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1188
Record Type:
Journal Article
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10. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Issue 12 (12th October 2015)

Authors:
Machado, Rajiv D.; Southgate, Laura; Eichstaedt, Christina A.; Aldred, Micheala A.; Austin, Eric D.; Best, D. Hunter; Chung, Wendy K.; Benjamin, Nicola; Elliott, C. Gregory; Eyries, Mélanie; Fischer, Christine; Gräf, Stefan; Hinderhofer, Katrin; Humbert, Marc; Keiles, Steven B.; Loyd, James E.; M...
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1113
Record Type:
Journal Article
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