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Is Part Of Human mutation. Volume 41:Issue 4(2020)

1. A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number‐dependent manner. Issue 4 (31st January 2020)

Authors:
Bertuzzi, Maria; Tang, Dave; Calligaris, Raffaella; Vlachouli, Christina; Finaurini, Sara; Sanges, Remo; Goldwurm, Stefano; Catalan, Mauro; Antonutti, Lucia; Manganotti, Paolo; Pizzolato, Gilberto; Pezzoli, Gianni; Persichetti, Francesca; Carninci, Piero; Gustincich, Stefano
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
807
Record Type:
Journal Article
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2. A novel gain‐of‐function mutation in SCN5A responsible for multifocal ectopic Purkinje‐related premature contractions. Issue 4 (25th January 2020)

Authors:
Doisne, Nicolas; Waldmann, Victor; Redheuil, Alban; Waintraub, Xavier; Fressart, Véronique; Ader, Flavie; Fossé, Lucie; Hidden‐Lucet, Françoise; Gandjbakhch, Estelle; Neyroud, Nathalie
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
850
Record Type:
Journal Article
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3. Analysis of CLCNKB mutations at dimer‐interface, calcium‐binding site, and pore reveals a variety of functional alterations in ClC‐Kb channel leading to Bartter syndrome. Issue 4 (24th December 2019)

Authors:
Bignon, Yohan; Sakhi, Imene; Bitam, Sara; Bakouh, Naziha; Keck, Mathilde; Frachon, Nadia; Paulais, Marc; Planelles, Gabrielle; Teulon, Jacques; Andrini, Olga
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
774
Record Type:
Journal Article
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4. Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings. Issue 4 (19th December 2019)

Authors:
Dufner Almeida, Luiz G.; Nanhoe, Santoesha; Zonta, Andrea; Hosseinzadeh, Mitra; Kom‐Gortat, Regina; Elfferich, Peter; Schaaf, Gerben; Kenter, Annegien; Kümmel, Daniel; Migone, Nicola; Povey, Sue; Ekong, Rosemary; Nellist, Mark
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
759
Record Type:
Journal Article
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5. Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing. Issue 4 (16th January 2020)

Authors:
Seiden, Allison H.; Richter, Felix; Patel, Nihir; Rodriguez, Oscar L.; Deikus, Gintaras; Shah, Hardik; Smith, Melissa; Roberts, Amy; King, Eileen C.; Sebra, Robert P.; Sharp, Andrew J.; Gelb, Bruce D.
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
800
Record Type:
Journal Article
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7. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Issue 4 (14th January 2020)

Authors:
Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; ...
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
837
Record Type:
Journal Article
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9. Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida. Issue 4 (16th January 2020)

Authors:
Cao, Xuanye; Tian, Tian; Steele, John W.; Cabrera, Robert M.; Aguiar‐Pulido, Vanessa; Wadhwa, Shruti; Bhavani, Nikitha; Bi, Patrick; Gargurevich, Nick H.; Hoffman, Ethan N.; Cai, Chun‐Quan; Marini, Nicholas J.; Yang, Wei; Shaw, Gary M.; Ross, Margaret E.; Finnell, Richard H.; Lei, Yunping
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
786
Record Type:
Journal Article
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10. Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A. Issue 4 (16th January 2020)

Authors:
Abelleyro, Miguel Martín; Radic, Claudia Pamela; Marchione, Vanina Daniela; Waisman, Karen; Tetzlaff, Tomas; Neme, Daniela; Rossetti, Liliana Carmen; De Brasi, Carlos Daniel
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
825
Record Type:
Journal Article
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