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Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
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Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

HORANI, Amjad ; DRULEY, Todd E ; TURNER, Emily H ; NICKERSON, Deborah A ; SHENDURE, Jay ; BAYLY, Philip V ; LEIGH, Margaret W ; KNOWLES, Michael R ; BRODY, Steven L ; DUTCHER, Susan K ; FERKOL, Thomas W ; ZARIWALA, Maimoona A ; PATEL, Anand C ; LEVINSON, Benjamin T ; VAN ARENDONK, Laura G ; THORNTON, Katherine C ; GIACALONE, Joe C ; ALBEE, Alison J ; WILSON, Kate S

American journal of human genetics, 2012-10, Vol.91 (4), p.685-693 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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2
A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
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A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

Corbett, Mark A. ; Schwake, Michael ; Bahlo, Melanie ; Dibbens, Leanne M. ; Lin, Meng ; Gandolfo, Luke C. ; Vears, Danya F. ; O'Sullivan, John D. ; Robertson, Thomas ; Bayly, Marta A. ; Gardner, Alison E. ; Vlaar, Annemarie M. ; Korenke, G. Christoph ; Bloem, Bastiaan R. ; de Coo, Irenaeus F. ; Verhagen, Judith M.A. ; Lehesjoki, Anna-Elina ; Gecz, Jozef ; Berkovic, Samuel F.

American journal of human genetics, 2011-05, Vol.88 (5), p.657-663 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
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Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Berkovic, Samuel F. ; Dibbens, Leanne M. ; Oshlack, Alicia ; Silver, Jeremy D. ; Katerelos, Marina ; Vears, Danya F. ; Lüllmann-Rauch, Renate ; Blanz, Judith ; Zhang, Ke Wei ; Stankovich, Jim ; Kalnins, Renate M. ; Dowling, John P. ; Andermann, Eva ; Andermann, Frederick ; Faldini, Enrico ; D'Hooge, Rudi ; Vadlamudi, Lata ; Macdonell, Richard A. ; Hodgson, Bree L. ; Bayly, Marta A. ; Savige, Judy ; Mulley, John C. ; Smyth, Gordon K. ; Power, David A. ; Saftig, Paul ; Bahlo, Melanie

American journal of human genetics, 2008-03, Vol.82 (3), p.673-684 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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