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Is Part Of Human mutation. Volume 40:Issue 10(2019)

1. A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency. Issue 10 (3rd July 2019)

Authors:
Ferdinandusse, Sacha; te Brinke, Heleen; Ruiter, Jos P.N.; Haasjes, Janet; Oostheim, Wendy; van Lenthe, Henk; IJlst, Lodewijk; Ebberink, Merel S.; Wanders, Ronald J.A.; Vaz, Frédéric M.; Waterham, Hans R.
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1899
Record Type:
Journal Article
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2. A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major. Issue 10 (24th June 2019)

Authors:
Fanis, Pavlos; Kousiappa, Ioanna; Phylactides, Marios; Kyrri, Andreani; Hadjigavriel, Michael; Christou, Soteroula; Sitarou, Maria; Kleanthous, Marina
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1768
Record Type:
Journal Article
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4. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry. Issue 10 (3rd July 2019)

Authors:
Friebel, Tara M.; Andrulis, Irene L.; Balmaña, Judith; Blanco, Amie M.; Couch, Fergus J.; Daly, Mary B.; Domchek, Susan M.; Easton, Douglas F.; Foulkes, William D.; Ganz, Patricia A.; Garber, Judy; Glendon, Gord; Greene, Mark H.; Hulick, Peter J.; Isaacs, Claudine; Jankowitz, Rachel C.; Karlan, B...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1781
Record Type:
Journal Article
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6. Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease. Issue 10 (18th June 2019)

Authors:
Khan, Mubeen; Cornelis, Stéphanie S.; Khan, Muhammad Imran; Elmelik, Duaa; Manders, Eline; Bakker, Sem; Derks, Ronny; Neveling, Kornelia; van de Vorst, Maartje; Gilissen, Christian; Meunier, Isabelle; Defoort, Sabine; Puech, Bernard; Devos, Aurore; Schulz, Heidi L.; Stöhr, Heidi; Grassmann, Felix...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1749
Record Type:
Journal Article
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7. Disease‐associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex. Issue 10 (3rd July 2019)

Authors:
Hemming, Isabel A.; Clément, Olivier; Gladwyn‐Ng, Ivan E.; Cullen, Hayley D.; Ng, Han Leng; See, Heng B.; Ngo, Linh; Ulgiati, Daniela; Pfleger, Kevin D.G.; Agostino, Mark; Heng, Julian I‐T.
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1841
Record Type:
Journal Article
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8. First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts. Issue 10 (24th June 2019)

Authors:
Lin, Jin‐Huan; Tang, Xin‐Ying; Boulling, Arnaud; Zou, Wen‐Bin; Masson, Emmanuelle; Fichou, Yann; Raud, Loann; Le Tertre, Marlène; Deng, Shun‐Jiang; Berlivet, Isabelle; Ka, Chandran; Mort, Matthew; Hayden, Matthew; Leman, Raphaël; Houdayer, Claude; Le Gac, Gerald; Cooper, David N.; Li, Zhao‐Shen; ...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1856
Record Type:
Journal Article
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9. Front Cover, Volume 40, Issue 10. Issue 10 (27th September 2019)

Authors:
Cox, Timothy C.; Lidral, Andrew C.; McCoy, Jason C.; Liu, Huan; Cox, Liza L.; Zhu, Ying; Anderson, Ryan D.; Moreno Uribe, Lina M.; Anand, Deepti; Deng, Mei; Richter, Chika T.; Nidey, Nichole L.; Standley, Jennifer M.; Blue, Elizabeth E.; Chong, Jessica X.; Smith, Joshua D.; Kirk, Edwin P.; Vensel...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
i
Record Type:
Journal Article
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