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Is Part Of Human mutation. Volume 39:Issue 12(2018)

1. A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Issue 12 (24th September 2018)

Authors:
Nardella, Grazia; Visci, Grazia; Guarnieri, Vito; Castellana, Stefano; Biagini, Tommaso; Bisceglia, Luigi; Palumbo, Orazio; Trivisano, Marina; Vaira, Carmela; Scerrati, Massimo; Debrasi, Davide; D'Angelo, Vincenzo; Carella, Massimo; Merla, Giuseppe; Mazza, Tommaso; Castori, Marco; D'Agruma, Leona...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1885
Record Type:
Journal Article
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2. Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome. Issue 12 (24th September 2018)

Authors:
Llorens‐Agost, Marta; Luessing, Janna; van Beneden, Amandine; Eykelenboom, John; O'Reilly, Dawn; Bicknell, Louise S; Reynolds, John J; van Koegelenberg, Marianne; Hurles, Matthew E; Brady, Angela F; Jackson, Andrew P; Stewart, Grant S; Lowndes, Noel F
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1847
Record Type:
Journal Article
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4. Association analysis of exome variants and refraction, axial length, and corneal curvature in a European–American population. Issue 12 (11th September 2018)

Authors:
Vergara, Candelaria; Bomotti, Samantha M.; Valencia, Cristian; Klein, Barbara E.K.; Lee, Kristine E.; Klein, Ronald; Klein, Alison P.; Duggal, Priya
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1973
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Issue 12 (24th September 2018)

Authors:
Burke, Leslie J.; Sevcik, Jan; Gambino, Gaetana; Tudini, Emma; Mucaki, Eliseos J.; Shirley, Ben C.; Whiley, Phillip; Parsons, Michael T.; De Leeneer, Kim; Gutiérrez‐Enríquez, Sara; Santamariña, Marta; Caputo, Sandrine M.; Santana dos Santos, Elizabeth; Soukupova, Jana; Janatova, Marketa; Zemankov...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2025
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases. Issue 12 (19th October 2018)

Authors:
Nicora, Giovanna; Limongelli, Ivan; Gambelli, Patrick; Memmi, Mirella; Malovini, Alberto; Mazzanti, Andrea; Napolitano, Carlo; Priori, Silvia; Bellazzi, Riccardo
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1835
Record Type:
Journal Article
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9. Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. Issue 12 (10th October 2018)

Authors:
Magri, Stefania; Fracasso, Valentina; Plumari, Massimo; Alfei, Enrico; Ghezzi, Daniele; Gellera, Cinzia; Rusmini, Paola; Poletti, Angelo; Di Bella, Daniela; Elia, Antonio E.; Pantaleoni, Chiara; Taroni, Franco
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2060
Record Type:
Journal Article
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10. Cover Image, Volume 39, Issue 12. Issue 12 (17th November 2018)

Authors:
Proietti Onori, Martina; Koopal, Balwina; Everman, David B.; Worthington, Jessica D.; Jones, Julie R.; Ploeg, Melissa A.; Mientjes, Edwin; van Bon, Bregje W.; Kleefstra, Tjitske; Schulman, Howard; Kushner, Steven A.; Küry, Sébastien; Elgersma, Ype; van Woerden, Geeske M.
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
i
Record Type:
Journal Article
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