http://www.ajhg.org Volume 83, Issue 1 http://www.ajhg.org/fulltext/S0002-9297(08)00369-8 Robin E. Williamson. Mutations in a number of genes involved in the patterning of the midline have been linked to holoprosencephaly (HPE), congenital heart defects (CHD), and asymmetric internal organ positioning. Gen.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00369-8 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00366-2 Kathryn B. Garber. After radiation and surgery, women with early-stage breast cancer are often given adjuvant therapy containing an anthracycline. Because these chemotherapeutic agents can have serious side effects—.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00366-2 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00322-4 Søren W. Gersting, Kristina F. Kemter, Michael Staudigl, Dunja D. Messing, Marta K. Danecka, Florian B. Lagler, Christian P. Sommerhoff, Adelbert A. Roscher, Ania C. Muntau. A significant share of patients with phenylalanine hydroxylase (PAH) deficiency benefits from pharmacological doses of tetrahydrobiopterin (BH4), the natural PAH cofactor. Phenylketonuria (PKU) is.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00322-4 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00321-2 Erich Roessler, Maia V. Ouspenskaia, Jayaprakash D. Karkera, Jorge I. Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W. Belmont, Jeffrey A. Towbin, Elizabeth Goldmuntz, Benjamin Feldman, Maximilian Muenke. Abnormalities of embryonic patterning are hypothesized to underlie many common congenital malformations in humans including congenital heart defects (CHDs), left-right disturbances (L-R) or latera.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00321-2 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00349-2 Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel. Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in P.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00349-2 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00350-9 Jing Zhang, Zhe Fang, Corinne Jud, Mariska J. Vansteensel, Krista Kaasik, Cheng Chi Lee, Urs Albrecht, Filippo Tamanini, Johanna H. Meijer, Ben A. Oostra, David L. Nelson. Fragile X syndrome results from the absence of the fragile X mental retardation 1 (FMR1) gene product (FMRP). FMR1 has two paralogs in vertebrates: fragile X related gene 1 and 2 (FXR1 and FXR2). .... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00350-9 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00358-3 Jian Wang, Sanjay Shete. For assessment of genetic association between single-nucleotide polymorphisms (SNPs) and disease status, the logistic-regression model or generalized linear model is typically employed. However, t.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00358-3 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00363-7 Matteo M. Guerrini, Cristina Sobacchi, Barbara Cassani, Mario Abinun, Sara S. Kilic, Alessandra Pangrazio, Daniele Moratto, Evelina Mazzolari, Jill Clayton-Smith, Paul Orchard, Fraser P. Coxon, Miep H. Helfrich, Julie C. Crockett, David Mellis, Ashok Vellodi, Ilhan Tezcan, Luigi D. Notarangelo, Michael J. Rogers, Paolo Vezzoni, Anna Villa, Annalisa Frattini. Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but r.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00363-7 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00367-4 Marco Baralle, Tibor Pastor, Erica Bussani, Franco Pagani. The intronic GAA repeat expansion in the frataxin (FXN) gene causes the hereditary neurodegenerative disorder Friedreich ataxia. Although it is generally believed that GAA repeats block transcript.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00367-4 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00346-7 Francesca Ariani, Giuseppe Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Marzia Pollazzon, Sabrina Buoni, Ottavia Spiga, Sara Ricciardi, Ilaria Meloni, Ilaria Longo, Francesca Mari, Vania Broccoli, Michele Zappella, Alessandra Renieri. Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncat.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00346-7 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00351-0 Vasily E. Ramensky, Ramil N. Nurtdinov, Alexei D. Neverov, Andrei A. Mironov, Mikhail S. Gelfand. Alternative splicing is a well-recognized mechanism of accelerated genome evolution. We have studied single-nucleotide polymorphisms and human-chimpanzee divergence in the exons of 6672 alternativ.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00351-0 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00354-6 Nanda N.J. Rommelse, Alejandro Arias-Vásquez, Marieke E. Altink, Cathelijne J.M. Buschgens, Ellen Fliers, Philip Asherson, Stephen V. Faraone, Jan K. Buitelaar, Joseph A. Sergeant, Jaap Oosterlaan, Barbara Franke. ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00354-6 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00347-9 Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoglu, Sibel Berker-Karauzum, Patrick Edery, Holly H. Hobart, Carolyn B. Mervis, Orsetta Zuffardi, Alexandre Reymond, Paige Kaplan, May Tassabehji, Ronald G. Gregg, Stephen W. Scherer, Lucy R. Osborne. Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because .... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00347-9 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00356-X Carl A. Anderson, Fredrik H. Pettersson, Jeffrey C. Barrett, Joanna J. Zhuang, Jiannis Ragoussis, Lon R. Cardon, Andrew P. Morris. Genotype imputation is potentially a zero-cost method for bridging gaps in coverage and power between genotyping platforms. Here, we quantify these gains in power and coverage by using 1,376 popul.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00356-X 2008-07-31T00:00:02Z http://www.ajhg.org/abstract/S0002-9297(08)00359-5 Montgomery Slatkin. A statistic is introduced that relates discoveries made in genome-wide association (GWA) studies to patterns of disease risks among relatives. The genotype-specific recurrence risk (GSR) is the ge.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/abstract/S0002-9297(08)00359-5 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00323-6 Monica Martignoni, Elena Riano, Elena I. Rugarli. To the Editor: Hereditary spastic paraplegia (HSP) is a hereditary condition characterized by selective retrograde degeneration of corticospinal motor axons and is therefore a model disease for st.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00323-6 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00364-9 Ashraf U. Mannan. To the Editor: I appreciate this opportunity to respond to the letter by Martignoni et al. In the letter, Martignoni et al. raised certain concerns over our previous finding, where we showed that .... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00364-9 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00348-0 Dietrich Stephan, David Agus, Michael Nierenberg, Elana Silver. To the Editor: A recent paper in The Journal aptly described the challenges inherent in using genomic profiles to predict risk for common diseases and to develop personalized risk-prevention advic.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00348-0 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00360-1 A. Cecile J.W. Janssens, Marta Gwinn, Linda A. Bradley, Ben A. Oostra, Cornelia M. van Duijn, Muin J. Khoury. To the Editor: Stephan et al. advocate for a responsible approach to the use of personal genomic profiles in disease prevention, early detection, and treatment. They stress that companies should u.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00360-1 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00353-4 Alkes L. Price, Michael E. Weale, Nick Patterson, Simon R. Myers, Anna C. Need, Kevin V. Shianna, Dongliang Ge, Jerome I. Rotter, Esther Torres, Kent D. Taylor, David B. Goldstein, David Reich. To the Editor: In the September 2007 issue of The Journal, Tang et al. analyzed data from 192 Puerto Ricans genotyped at 112,584 autosomal markers and identified three regions with a deficiency in.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00353-4 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00357-1 Hua Tang, Shweta Choudhry, Rui Mei, Martin Morgan, William Rodriguez-Cintron, Esteban Gonzalez Burchard, Neil J. Risch. To the Editor: In 2006, Tang and colleagues presented a novel statistical method for genetic admixture analysis based on high-density SNP arrays rather than conventional ancestry informative marke.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00357-1 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00352-2 Philip Hedrick. To the Editor: Kayser et al. estimated the ancestry of Polynesians by using 377 autosomal microsatellite loci and concluded that 0.79 of the ancestry was from East Asians (95% CI, 0.76–0.84) and 0.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00352-2 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00355-8 Manfred Kayser, Oscar Lao, Mark Stoneking. To the Editor: Hedrick proposed an interesting model to explain our previous observation that most of the Polynesian autosomal and mitochondrial gene pool is of East Asian origin whereas most of t.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00355-8 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00362-5 Simon Y.W. Ho, Phillip Endicott. To the editor: In a recent study of Native American mitochondrial genomes, Fagundes et al. claimed to have found molecular evidence that the colonization of the New World occurred well before the .... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00362-5 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00365-0 Nelson J.R. Fagundes, Ricardo Kanitz, Sandro L. Bonatto. To the editor: Ho and Endicott (H&E) propose an alternative interpretation for our findings, stating that Native American mtDNA demography is better associated to a more recent Clovis population e.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00365-0 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00361-3 Marcelo Fernandes Costa, Andre Gustavo Fernandes Oliveira, Claudia Feitosa-Santana, Mayana Zatz, Dora Fix Ventura. (American Journal of Human Genetics 80, 1064–1075; June 2007) We noticed recently that a few corrections need to be made in our manuscript. In the course of preparing the table, there was an err.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00361-3 2008-07-31T00:00:02Z http://www.ajhg.org/fulltext/S0002-9297(08)00368-6 The newly established Miami Institute for Human Genomics (MIHG) in the University of Miami Miller School of Medicine is seeking postdoctoral fellows interested in either molecular genetics, theore.... Thu, 31 Jul 2008 00:00:02 GMT http://www.ajhg.org/fulltext/S0002-9297(08)00368-6 2008-07-31T00:00:02Z