American Journal of Human Genetics 2008 - Abstracts
| American Journal of Human Genetics 2008 | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Accommodating linkage disequilibrium in genetic-association analyses via ridge regression. | Biological sciences | Nicholas J. Schork, Nathalie Malo, Ondrej Libiger | |||
| Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. | Biological sciences | Katrin Hoffmann, Sigmar Stricker, Stefan Mundlos, Claus-Eric Ott, Dominik Seelow, Anne Michalk, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus, Giovanni Botta, Valeria G. Naretto, Catrin Janetzki, Nausheen Yaqoob, Dagmar Wieczorek, Britta Fiebig, Brunhilde Wirth, Markus Hoopmann, Marisa Walther, Friederike Korber, Markus Blankenburg, Raoul Heller | |||
| A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. | Biological sciences | Edwin H. Cook Jr., Aravinda Chakravarti, Tanya M. Teslovich, Shin Lin, David J. Cutler, Dan E. Arking, Camille W. Brune, Kristen West, Morna Ikeda, Alexis Rea, Moltu Guy | |||
| A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. | Biological sciences | Cornelia M. van Duijn, Marta Gwinn, Muin J. Khoury, Ben A. Oostra, A. Cecile J.W. Janssens, Linda A. Bradley | |||
| ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme [Q.sub.10] deficiency. | Biological sciences | David R. Lynch, Salvatore DiMauro, Michio Hirano, Jean-Louis Mandel, Luis Carlos Lopez, Frederic Plewniak, Christelle Thibault, Olivier Poch, Christine Tranchant, Clotilde Lagier-Tourenne, Meriem Tazir, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Michel Koenig, Cleverson Busso, Samira Makri, Lamia Ali-Pacha, Traki Benhassine, Mathieu Anheim, Laurent Bianchetti, Mario H. Barros | |||
| Admixture mapping of white cell count: Genetic locus responsible for lower white blood cell count in the health ABC and Jackson Heart Studies. | Biological sciences | Joseph M. Zmuda, Tamara B. Harris, Elad Ziv, Joe C. Files, Brock A. Beamer, Kushang V. Patel, David Reich, Melissa Garcia, Arti Tandon, Scott Huntsman, Rongling Li, Michael A. Nalls, James G. Wilson, Nick J. Patterson, Donglei Hu, Ermeg L. Akylbekova, Cheryl L. Hardy, Sarah G. Buxbaum, Herman A. Taylor | |||
| An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. | Biological sciences | John B. Vincent, Hanns Lochmuller, Wolfgang N. Loscher, Abdul Noor, Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Birgit Lohberger, Natalie Farra, Erwin Petek, Thomas Schwarzbraun, Lisa Ofner, Klaus Wagner, Stefan Quasthoff | |||
| A powerful and flexible multilocus association test for quantitative traits. | Biological sciences | Debashis Ghosh, Michael P. Epstein, Xihong Lin, Lydia Coulter Kwee, Dawei Liu | |||
| Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. | Biological sciences | Renate Lullmann-Rauch, Judith Blanz, Paul Saftig, John C. Mulley, Eva Andermann, Gordon K. Smyth, Alicia Oshlack, Melanie Bahlo, Jim Stankovich, Samuel F. Berkovic, Leanne M. Dibbens, Jeremy D. Silver, Marina Katerelos, Danya F. Vears, Renate M. Kalnins, John P. Dowling, Frederick Andermann, Enrico Faldini, Rudi D'Hooge, Lata Vadlamudi, Richard A. Macdonell, Bree L. Hodgson, Marta A. Bayly, Judy Savige, David A. Power | |||
| A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. | Biological sciences | Nicholas G. Martin, Grant W. Montgomery, David L. Duffy, Zhen Zhen Zhao, Nicholas K. Hayward, Richard A. Sturm, Fabio P.N. Leite, Mitchell S. Stark | |||
| Association of the asporin D14 allele with lumbar-disc degeneration in Asians. | Biological sciences | Jaro Karppinen, Yoshiharu Kawaguchi, Shiro Ikegawa, Kazuhiro Chiba, Yuichiro Hirose, You-Qiang Song, Kenneth M.C. Cheung, Daniel W.H. Ho, Sandy C.S. Poon, Mauro Alini, Sibylle Grad, Anita F.Y. Yee, John C.Y. Leong, Keith D.K. Luk, Kathryn S.E. Cheah, Pak Sham, Danny Chan | |||
| A statistical method for predicting classical HLA alleles from SNP data.(single-nucleotide polymorphism) | Biological sciences | Stephen Leslie, Peter Donnelly, Gil McVean | |||
| A unified association analysis approach for family and unrelated samples correcting for stratification. | Biological sciences | Richard S. Cooper, Robert C. Elston, Shengchao Li | |||
| Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. | Biological sciences | Jean-Pierre Fryns, David Vetrie, Koen Devriendt, Heike Fiegler, Nigel P. Carter, Yves Moreau, Gert Matthijs, Thomas Liehr, Irina Balikova, Kevin Martens, Cindy Melotte, Mustapha Amyere, Steven Van Vooren, Miikka Vikkula, Ingele Casteels, Joris Robert Vermeesch | |||
| Basal laminar drusen caused by compound heterozygous variants in the CFH gene. | Biological sciences | Frans P.M. Cremers, Carel B. Hoyng, Sander B. Nabuurs, Camiel J.F. Boon, B. Jeroen Klevering, Marijke N. Zonneveld-Vrieling, Ellen Blokland, Anneke I. Den Hollander | |||
| Biallelic mutation of BEST1 causes a distinct retinopathy in humans. | Biological sciences | Anthony G. Robson, Graham E. Holder, Andrew R. Webster, Bart P. Leroy, Forbes D.C. Manson, Rosemary Burgess, Ian D. Millar, Jill E. Urquhart, Ian M. Fearon, Elfrida De Baere, Peter D. Brown, Genevieve A. Wright, Philippe Kestelyn, Graeme C.M. Black | |||
| C6ORF66 is an assembly factor of mitochondrial complex I. | Biological sciences | Orly Elpeleg, Avraham Shaag, Ann Saada, Simon Edvardson, Matan Rapoport, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski | |||
| CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. | Biological sciences | Anne Lombes, Arnold Munnich, Nathalie Boddaert, Julie Mollet, Agnes Delahodde, Valerie Serre, Dominique Chretien, Dimitri Schlemmer, Isabelle Desguerre, Helene Ogier de Baulny, Agnes Rotig | |||
| Canine behavioral genetics: pointing out the phenotypes and herding up the genes. | Biological sciences | Elaine A. Ostrander, Tyrone C. Spady | |||
| Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project. | Biological sciences | David J. Harris, Gail A.P. Bruns, James F. Gusella, Cynthia C. Morton, Natalia T. Leach, Bruce R. Korf, Bradley J. Quade, Richard L. Maas, Shashikant Kulkarni, Hyung-Goo Kim, Yanli Fan, Azra H. Ligon, Shotaro Kishikawa, Anne W. Higgins, Diana J. Donovan, Eric Lally, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Robert Eisenman, Chantal G. Farra, Heather L. Ferguson, Steven R. Herrick, Chantal Kelly, Emma Lemyre, Janine Lewis, Steven D.P. Moore, Roxanna E. Peters, Fabiola Quintero-Rivera, Irfan Saadi, Jay Shendure, Robin E. Williamson | |||
| Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. | Biological sciences | Jacqueline T. Tan, Friederike Kremer, Susanna Freddi, Katrina M. Bell, Naomi L. Baker, Shireen R. Lamande, John F. Bateman | |||
| Disruption of neurexin 1 associated with autism spectrum disorder. | Biological sciences | David L. Pauls, Ami Klin, David J. Harris, James F. Gusella, Cynthia C. Morton, Marcy E. MacDonald, Fred Volkmar, Bradley J. Quade, Mark J. Daly, Hyung-Goo Kim, Lauren A. Weiss, Shotaro Kishikawa, Anne W. Higgins, Ihn-Sik Seong, Diana J. Donovan, Yiping Shen, Eric Lally, Juliane Najm, Kerstin Kutsche, Maria Descartes, Lynn Holt, Stephen Braddock, Robin Troxell, Lee Kaplan, Katherine Tsatsanis, Ilse Noens | |||
| Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells. | Biological sciences | Elodie Robert-Richard, Francois Moreau-Gaudry, Magalie Lalanne, Isabelle Lamrissi-Garcia, Muriel Cario-Andre, Veronique Guyonnet-Duperat, Laurence Taine, Cecile Ged, Hubert de Verneuil | |||
| Epigenomic profiling reveals DNA-methylation changes associated with major psychosis. | Biological sciences | Abbas Assadzadeh, Axel Schumacher, Sun-Chong Wang, Arturas Petronis, Jonathan Mill, Thomas Tang, Zachary Kaminsky, Tarang Khare, Simin Yazdanpanah, Luigi Bouchard, Peixin Jia, James Flanagan | |||
| Estimating ethnic admixture from pedigree data. | Biological sciences | Kenneth Lange, Janet S. Sinsheimer, Christopher L. Plaisier, Adriana Huertas-Vazquez, Carlos Aguilar-Salinas, Teresa Tusie-Luna, Paivi Pajukanta | |||
| Estimating Local Ancestry in adMixed Populations. | Biological sciences | Gad Kimmel, Eran Halperin, Sriram Sankararaman, Srinath Sridhar | |||
| Evaluation of genetic variation contributing to differences in gene expression between populations. | Biological sciences | Nancy J. Cox, Wei Zhang, M. Eileen Dolan, Tyson A. Clark, John E. Blume, Emily O. Kistner, Anthony C. Schweitzer, Shiwei Duan, Wasim K. Bleibel, Stephanie Huang, Tina X. Chen | |||
| FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. | Biological sciences | Byoung-Moo Seo, Jung-Wook Kim, Sook-Kyung Lee, Zang Hee Lee, Joo-Cheol Park, Kyung-Eun Lee, Myoung-Hwa Lee, Jong-Tae Park, Jan C.-C. Hu, James P. Simmer | |||
| Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesian. | Biological sciences | Peter Nurnberg, Manfred Kayser, Oscar Lao, Kathrin Saar, Silke Brauer, Xingyu Wang, Ronald J. Trent, Mark Stoneking | |||
| Genome-wide association study identifies genes for biomarkers of cardiovascular disease: Serum urate and dyslipidemia. | Biological sciences | Feng Zhang, Martin Farrall, John Webster, G. Mark Lathrop, Chris Wallace, Nilesh J. Samani, Stephen J. Newhouse, Richard J. Dobson, Morris Brown, John M. Connell, Anna Dominiczak, Mark J. Caulfield, Patricia B. Munroe, Paul Burton, Peter Braund, Martin Tobin, Mario Falchi, Kourosh Ahmadi, Ana Carolina B. Marcano, Cother Hajat, Panagiotis Deloukas, Tim Spector | |||
| Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. | Biological sciences | Francesca Capon, Ashley Reece, Kate V. Everett, Barry A. Chioza, Christina Georgoula, Keith A. Parker, Cathy Cord-Udy, Paul McKeigue, Sally Mitton, Agostino Pierro, Prem Puri, Hannah M. Mitchison, Eddie M.K. Chung, R. Mark Gardiner | |||
| Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. | Biological sciences | Thomas Ruzicka, Hans Christian Hennies, Markus M. Nothen, Axel M. Hillmer, Antonia Flaquer, Sandra Hanneken, Sibylle Eigelshoven, Anne-Katrin Kortum, Felix F. Brockschmidt, Astrid Golla, Christine Metzen, Holger Thiele, Susanne Kolberg, Roman Reinartz, Regina C. Betz, Roland Kruse | |||
| Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. | Biological sciences | Jacques J.M. van Dongen, Ilhan Tezcan, Mary Ellen Conley, Nico G. Hartwig, Menno C. van Zelm, Corinne Geertsema, Nicole Nieuwenhuis, Dick de Ridder, Claudine Schiff, Ewa Bernatowska, Elisabeth A.M. Sanders, Jiri Litzman, Irina Kondratenko, Mirjam van der Burg | |||
| Human RFT1 deficiency leads to a disorder of N-linked glycosylation. | Biological sciences | Markus Aebi, Bryan Winchester, Micha A. Haeuptle, Francois M. Pujol, Christine Neupert, Alexander J. Kastaniotis, Thierry Hennet | |||
| Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. | Biological sciences | Dietrich A. Stephan, Szabolcs Szelinger, David W. Craig, Abraham Itty, Corrie Panganiban, Michael C. Kruer, Aswin Sekar, David Reiman, Vinodh Narayanan, John F. Kerrigan | |||
| Identification of susceptibility genes for cancer in a genome-wide scan: results from the colon neoplasia sibling study. | Biological sciences | Robert C. Elston, Susan Lewis, Joseph Willis, Petra Platzer, Denise Daley, Melissa MacMillen, Sanford D. Markowitz, Georgia L. Wiesner | |||
| Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture. | Biological sciences | Leena Peltonen, Leif Groop, Brian Meyer, Nabil Sabri Enattah, Michael Alifrangis, Sirajedin Natah, David Comas, Hatem El-Shanti, Tine G.K. Jensen, Mette Nielsen, Rikke Lewinski, Mikko Kuokkanen, Heli Rasinpera, Jeong Kee Seo, Insaf F. Khalil, Abdrazak Natah, Ahmed Ali, S. Qasim Mehdi, Else Marie Vestergaard, Faiqa Imtiaz, Mohamed S. Rashed, Jesper Troelsen | |||
| Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. | Biological sciences | David H. Ledbetter, Michael Wigler, Stanley F. Nelson, Jonathan Sebat, Daniel H. Geschwind, Christa L. Martin, Maricela Alarcon, Brett S. Abrahams, Jennifer L. Stone, Jacqueline A. Duvall, Julia V. Perederiy, Jamee M. Bomar, Rita M. Cantor | |||
| Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. | Biological sciences | David H. Ledbetter, Erin L. Baldwin, Lorraine F. May, April N. Justice, Christa L. Martin | |||
| Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas. | Biological sciences | Francisco M. Salzano, David Glenn Smith, Nelson J.R. Fagundes, Ricardo Kanitz, Roberta Eckert, Ana C.S. Valls, Mauricio R. Bogo, Wilson A. Silva Jr., Marco A. Zago, Andrea K. Ribeiro-dos-Santos, Sidney E.B. Santos, Maria Luiza Petzl-Erler, Sandro L. Bonatto | |||
| Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. | Biological sciences | Ami Klin, Richard P. Lifton, Thomas M. Morgan, Daniel H. Geshwind, Brett S. Abrahams, Betul Bakkaloglu, Brian J. O'Roak, Angeliki Louvi, Abha R. Gupta, Jesse F. Abelson, Katarzyna Chawarska, A. Gulhan Ercan-Sencicek, Althea A. Stillman, Gamze Tanriover, Jackie A. Duvall, Elissa M. Robbins, Thomas Biederer, Murat Gunel, Matthew W. State | |||
| Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly related individuals. | Biological sciences | Melanie Bahlo, Cornelis A. Albers, Jim Stankovich, Russell Thomson, Hilbert J. Kappen | |||
| Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. | Biological sciences | Christina Zeitz, Barbara Kloeckener-Gruissem, Wolfgang Berger, Peter Nurnberg, Kristof Vandekerckhove, Gudrun Numberg, John Neidhardt, Isaak Schipper | |||
| Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. | Biological sciences | Chris P. Ponting, Anthony G. Robson, Graham E. Holder, Preeti Bakrania, Maria Efthymiou, Johannes C. Klein, Alison Salt, Bunyan. David J., Alex Wyatt, Angela Martin, Steven Williams, Victoria Lindley, Joanne Gilmore, Marie Restori, Magella M. Neveu, Richard O. Collin, David O. Robinson, Peter Farndon, Heidi Johansen-Berg, Dianne Gerrelli, Nicola K. Ragge | |||
| Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. | Biological sciences | J. Fielding Hejtmancik, Xiaodong Jiao, Anren Li, Yuri V. Sergeev, Xiaoyan Ding, Anil K. Sharma, Chi-Chao Chan, Igor Medina, Albert O. Edwards | |||
| Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment of DFNB35. | Biological sciences | Suzanne M. Leal, Han G. Brunner, Gert Vriend, Saima Riazuddin, Thomas B. Friedman, Frans P.M. Cremers, Wasim Ahmad, Zubair M. Ahmed, Yun Li, Sheikh Riazuddin, Bernd Wollnik, Rob W.J. Collin, Ersan Kalay, Muhammad Tariq, Theo Peters, Bert van der Zwaag, Hanka Venselaar, Jaap Oostrik, Kwanghyuk Lee, Refik Caylan, Henk A. Spierenburg, Erol Eyupoglu, Angelien Heister, Elif Bahat, Muhammad Ansar, Selcuk Arslan, Cor W.R.J. Cremers, Ahmet Karaguzel, Hannie Kremer | |||
| Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution. | Biological sciences | K.H. Andy Choo, Owen J. Marshall, Anderly C. Chueh, Lee H. Wong | |||
| Neuropathy target esterase gene mutations cause motor neuron disease. | Biological sciences | Mark Leppert, Shirley Rainier, Nori Matsunami, Hilary Coon, Melanie Bui, Erin Mark, Donald Thomas, Debra Tokarz, Lei Ming, Colin Delaney, Rudy J. Richardson, James W. Albers, Jeff Stevens, John K. Fink | |||
| Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. | Biological sciences | Gunter Hans-Filho, Hiroshi Shimizu, Andrew P. South, John A. McGrath, Masashi Akiyama, Ken Arita, Thai Harumi Sakuma, Joey Lai-Cheong, Suzanne Clements, Macanori Odashiro, Danilo Nakao Odashiro, Gunter Hans-Neto, Nelise Ritter Hans, Maxine V. Holder, Balbir S. Bhogal, Sian T. Hartshorne | |||
| On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. | Biological sciences | Massimo Trucco, Kathryn Roeder, Ying Lu, Bernie Devlin, Stefan Schreiber, Diana Luca, Steven Ringquist, Lambertus Klei, Anne B. Lee, Christian Gieger, H. -Erich Wichmann, Michael Krawczak, Alexis Styche | |||
| Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. | Biological sciences | Andrzej Poplawski, Nancy L. Pedersen, David B. Allison, Dorret I. Boomsma, Michael Crowley, Jan P. Dumanski, Carl E.G. Bruder, Arkadiusz Piotrowski, Antoinet A.C.J. Gijsbers, Robin Andersson, Stephen Erickson, Teresita Diaz de Stahl, Uwe Menzel, Johanna Sandgren, Chiquito Crasto, Hemant Tiwari, Jan Komorowski, Karin Wirdedeldt | |||
| Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. | Biological sciences | Peter Lichtner, Eric P. Hoffman, Claus Lenski, Heide Hellebrand, Alfons Meindl, Juliane Ramser, Mary Ellen Ahearn, Kemal O. Yariz, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Lisa Baumbach-Reardon | |||
| Renal aplasia in humans is associated with RET mutations. | Biological sciences | Michael A. Skinner, Shawn D. Safford, Justin G. Reeves, Margaret E. Jackson, Alex J. Freemerman | |||
| Robust score statistics for QTL linkage analysis.(quantitative trait locus ) | Biological sciences | Daniel E. Weeks, Samsiddhi Bhattacharjee, Chia-Ling Kuo, Nandita Mukhopadhyay, Guy N. Brock, Eleanor Feingold | |||
| Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A ->G mutation in blood. | Biological sciences | Patrick F. Chinnery, David C. Samuels, Harsha Karur Rajasimha | |||
| Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. | Biological sciences | Teepu Siddique, Michael A. Patton, Yi Yang, Nigel G. Laing, Maria K. Tsaousidou, Karim Ouahchi, Tom T. Warner, Michael A. Simpson, Philip A. Wilkinson, Ricardo E. Madrid, Heema Patel, Faycal Hentati, Philippa J. Lamont, Andrew H. Crosby | |||
| SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. | Biological sciences | Revital Shemer, Arie Drugan, Ruth Gershoni-Baruch, Mordechai Choder, Eli Sprecher, Margarita Indelman, Hannah Mandel, Zvi U. Borochowitz, Marina Okopnik, Carlos Knopf, Dov Tiosano | |||
| Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. | Biological sciences | Ivan P. Gorlov, Christopher I. Amos, Margaret R. Spitz, Shamil R. Sunyaev, Olga Y. Gorlova | |||
| Simple and efficient analysis of disease association with missing genotype data. | Biological sciences | Y. Hu, B.E. Huang, D.Y. Lin | |||
| Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. | Biological sciences | Kenneth H. Fischbeck, Ronald G. Haller, Tanja Taivassalo, Melanie A. Knight, Fanny Mochel, Wing-Hang Tong, Hernandez, Dena;, Karen Ayyad, Peter M. Andersen, Andrew Singleton, Tracey A. Raouault | |||
| Structural variation in chromosomes in autism spectrum disorder. | Biological sciences | John B. Vincent, Peter Szatmari, Lonnie Zwaigenbaum, Stephen W. Scherer, Ann Thompson, David Chitayat, Stefan Schreiber, Yan Ren, Wendy Roberts, Lars Feuk, Christian R. Marshall, Bridget Fernandez, Rainald Moessner, Jennifer Skaug, Dalila Pinto, Abdul Noor, Anath C. Lionel, Mary Shago, Bhooma Thiruvahindrapduram, Andreas Fiebig, Jan Friedman, Cees E.J. Ketelaars, Yvonne J. Vos, Can Ficicioglu, Susan Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare A. Gibbons, Ahmad Teebi, Rosanna Weksberg, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes | |||
| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. | Biological sciences | Guy Froyen, Hilde Van Esch, Jean-Pierre Fryns, Michael Field, Charles E. Schwartz, Hans-Hilger Ropers, Peter Marynen, Michael R. Stratton, P. Andrew Futreal, Gillian Turner, Irma Jarvela, F. Lucy Raymond, Damien Sanlaville, Hans van Bokhoven, Patrick S. Tarpey, Michael Partington, Jozef Gecz, Frederic Laumonnier, Mark Corbett, Joke Vandewalle, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Jamel Chelly, Enzo Ranieri, Fatima Abidi, Annabel Whibley, Rodney Scott, Maarit Peippo, Marjatta Sipponen, David Mowat, Anna Hackett | |||
| The fine-scale and complex architecture of human copy-number variation. | Biological sciences | Charles Lee, Laurakay Bruhn, Jeong-Sun Seo, George H. Perry, Amir Ben-Dor, Anya Tsalenko, Nick Sampas, Laia Rodriguez-Revenga, Charles W. Tran, Alicia Scheffer, Israel Steinfeld, Peter Tsang, N. Alice Yamada, Han Soo Park, Jong-II Kim, Zohar Yakhini, Stephen Laderman | |||
| The involvement of DNA-damage and -repair defects in neurological dysfunction. | Biological sciences | Avanti Kulkarni, David M. Wilson III. | |||
| Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. | Biological sciences | Albert Hofman, Cornelia M. van Duijn, Andre G. Uitterlinden, Johannes R. Vingerling, Caroline C.W. Klaver, Dominiek D.G. Despriet, Ben A. Oostra, Fan Liu, Yurii S. Aulchenko, Manfred Kayser, Simon Heath, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van Ijcken, Johan T. den Dunnen, Diana Zelenika, Paulus T.V.M. de Jong | |||
| TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. | Biological sciences | Peter M. Lansdorp, Gabriela M. Baerlocher, Sharon A. Savage, Neelam Giri, Nick Orr, Blanche P. Alter | |||
| Unraveling autism. | Biological sciences | Dietrich A. Stephan | |||
| Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes. | Biological sciences | Robert C. Elston, Qing Lu | |||
| Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of [alpha]-synuclein. | Biological sciences | William K. Scott, Eden R. Martin, Stephan Zuchner, Gaofeng Wang, Jeffrey M. Vance, Yi-Ju Li, Joelle M. van der Walt, Gregory Mayhew | |||
| Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. | Biological sciences | Robert J. Desnick, Stuart A. Scott, Lisa Edelmann, Ruth Kornreich | |||
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