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Human Mutation
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2012
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Volume 33
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2011
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Transcriptional hallmarks of noonan syndrome and noonan‐like syndrome with loose anagen hair
Ferrero, Giovanni Battista; Picco, Gabriele; Baldassarre, Giuseppina; Flex, Elisabetta; Isella, Claudio; Cantarella, Daniela; Corà, Davide; Chiesa, Nicoletta; Crescenzio, Nicoletta; Timeus, Fabio; Merla, Giuseppe; Mazzanti, Laura; Zampino, Giuseppe; Rossi, Cesare; Silengo, Margherita; Tartaglia, Marco; Medico, Enzo
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance
Sincan, Murat; Simeonov, Dimitre R; Adams, David; Markello, Thomas C.; Pierson, Tyler M.; Toro, Camilo; Gahl, William A.; Boerkoel, Cornelius F.
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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KMD: A country‐specific genetic variation resource for Korea
Smith,, Timothy David
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss
Gutiérrez Cortés, Nicolás; Pertuiset, Claire; Dumon, Elodie; Börlin, Marine; Hebert‐Chatelain, Etienne; Pierron, Denis; Feldmann, Delphine; Jonard, Laurence; Marlin, Sandrine; Letellier, Thierry; Rocher, Christophe
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
Lamb, Allen N.; Rosenfeld, Jill A.; Neill, Nicholas J.; Talkowski, Michael E.; Blumenthal, Ian; Girirajan, Santhosh; Keelean‐Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay‐Loder, Loren; Terespolsky, Deborah; Bader, Patricia I.; Rosenbaum, Kenneth; Vallee, Stephanie E.; Moeschler, John B.; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C.; Moran, Rocio; Shealy, Amy; Madan‐Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andrée; Heron‐Longe, Bénédicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M.; Opheim, Kent E.; Descartes, Maria; Eichler, Evan E.; Morton, Cynthia C.; Gusella, James F.; Schultz, Roger A.; Ballif, Blake C.; Shaffer, Lisa G.
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study
Ryu, Jihye; Lee, Chaeyoung
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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Assessing the Enrichment Performance in Targeted Resequencing Experiments
Frommolt, Peter; Abdallah, Ali T.; Altmüller, Janine; Motameny, Susanne; Thiele, Holger; Becker, Christian; Stemshorn, Kathryn; Fischer, Matthias; Freilinger, Tobias; Nürnberg, Peter
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
Dias, Cristina; Sincan, Murat; Cherukuri, Praveen F.; Rupps, Rosemarie; Huang, Yan; Briemberg, Hannah; Selby, Kathryn; Mullikin, James C.; Markello, Thomas C.; Adams, David R.; Gahl, William A.; Boerkoel, Cornelius F.
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012 -
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Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis
Robinson, James I.; Carr, Ian M.; Cooper, Dawn L.; Rashid, Lubna H.; Martin, Stephen G.; Emery, Paul; Isaacs, John D.; Barton, Anne; Barton, Anne; Wilson, Anthony G.; Barrett, Jennifer H; Morgan, Ann W.
Follow Human Mutation , Volume 33 (4)
Wiley – Apr 1, 2012
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