Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J. Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M.H. Abdel-Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, Duska J. Sidjanin

Am J Hum Genet. 2013 Dec 5; 93(6): 1001–1014. doi: 10.1016/j.ajhg.2013.10.011

PMCID:: PMC3852926

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Genetic and Epigenetic Regulation of Human lincRNA Gene Expression

Konstantin Popadin, Maria Gutierrez-Arcelus, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis

Am J Hum Genet. 2013 Dec 5; 93(6): 1015–1026. doi: 10.1016/j.ajhg.2013.10.022

PMCID:: PMC3852921

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Integrating GWASs and Human Protein Interaction Networks Identifies a Gene Subnetwork Underlying Alcohol Dependence

Shizhong Han, Bao-Zhu Yang, Henry R. Kranzler, Xiaoming Liu, Hongyu Zhao, Lindsay A. Farrer, Eric Boerwinkle, James B. Potash, Joel Gelernter

Am J Hum Genet. 2013 Dec 5; 93(6): 1027–1034. doi: 10.1016/j.ajhg.2013.10.021

PMCID:: PMC3853414

Article PubReader PDF–283K Cite

Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

Elisabeth A. Rosenthal, Jane Ranchalis, David R. Crosslin, Amber Burt, John D. Brunzell, Arno G. Motulsky, Deborah A. Nickerson, NHLBI GO Exome Sequencing Project, Ellen M. Wijsman, Gail P. Jarvik

Am J Hum Genet. 2013 Dec 5; 93(6): 1035–1045. doi: 10.1016/j.ajhg.2013.10.019

PMCID:: PMC3852929

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Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

Kerstin B. Meyer, Martin O’Reilly, Kyriaki Michailidou, Saskia Carlebur, Stacey L. Edwards, Juliet D. French, Radhika Prathalingham, Joe Dennis, Manjeet K. Bolla, Qin Wang, Ines de Santiago, John L. Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Laura J. Van ’t Veer, Frans B. Hogervorst, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Peter A. Fasching, Michael P. Lux, Arif B. Ekici, Matthias W. Beckmann, Julian Peto, Isabel dos Santos Silva, Olivia Fletcher, Nichola Johnson, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Federick Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Pascal Guénel, Thérèse Truong, Pierre Laurent-Puig, Florence Menegaux, Stig E. Bojesen, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Roger L. Milne, M. Pilar Zamora, Jose I. Arias, Javier Benitez, Susan Neuhausen, Hoda Anton-Culver, Argyrios Ziogas, Christina C. Dur, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Rita K. Schmutzler, Christoph Engel, Nina Ditsch, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, The GENICA Network, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Yasushi Yatabe, Thilo Dörk, Sonja Helbig, Natalia V. Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Georgia Chenevix-Trench, kConFab Investigators, Australian Ovarian Cancer Study Group, Anna H. Wu, Chiu-chen Tseng, David Van Den Berg, Daniel O. Stram, Diether Lambrechts, Bernard Thienpont, Marie-Rose Christiaens, Ann Smeets, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Kristen Purrington, Graham G. Giles, Gianluca Severi, Laura Baglietto, Catriona McLean, Christopher A. Haiman, Brian E. Henderson, Fredrick Schumacher, Loic Le Marchand, Jacques Simard, Mark S. Goldberg, France Labrèche, Martine Dumont, Soo-Hwang Teo, Cheng-Har Yip, Sze-Yee Phuah, Vessela Kristensen, Grethe Grenaker Alnæs, Anne-Lise Børresen-Dale, Wei Zheng, Sandra Deming-Halverson, Martha Shrubsole, Jirong Long, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Sandrine Tchatchou, Peter Devilee, Robert A.E.M. Tollenaar, Caroline M. Seynaeve, Montserrat García-Closas, Jonine Figueroa, Stephen J. Chanock, Jolanta Lissowska, Kamila Czene, Hartef Darabi, Kimael Eriksson, Maartje J. Hooning, John W.M. Martens, Ans M.W. van den Ouweland, Carolien H.M. van Deurzen, Per Hall, Jingmei Li, Jianjun Liu, Keith Humphreys, Xiao-Ou Shu, Wei Lu, Yu-Tang Gao, Hui Cai, Angela Cox, Malcolm W.R. Reed, William Blot, Lisa B. Signorello, Qiuyin Cai, Paul D.P. Pharoah, Maya Ghoussaini, Patricia Harrington, Jonathan Tyrer, Daehee Kang, Ji-Yeob Choi, Sue K. Park, Dong-Young Noh, Mikael Hartman, Miao Hui, Wei-Yen Lim, Shaik A. Buhari, Ute Hamann, Asta Försti, Thomas Rüdiger, Hans-Ulrich Ulmer, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Suleeporn Sangrajrang, Valerie Gaborieau, Paul Brennan, James McKay, Celine Vachon, Susan Slager, Florentia Fostira, Robert Pilarski, Chen-Yang Shen, Chia-Ni Hsiung, Pei-Ei Wu, Ming-Feng Hou, Anthony Swerdlow, Alan Ashworth, Nick Orr, Minouk J. Schoemaker, Bruce A.J. Ponder, Alison M. Dunning, Douglas F. Easton

Am J Hum Genet. 2013 Dec 5; 93(6): 1046–1060. doi: 10.1016/j.ajhg.2013.10.026

PMCID:: PMC3852923

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Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice

Adel Shalata, Maria C. Ramirez, Robert J. Desnick, Nolan Priedigkeit, Christoph Buettner, Claudia Lindtner, Mohammed Mahroum, Muhammad Abdul-Ghani, Feng Dong, Nazik Arar, Olga Camacho-Vanegas, Rui Zhang, Sandra C. Camacho, Ying Chen, Mwafaq Ibdah, Ralph DeFronzo, Virginia Gillespie, Kevin Kelley, Brian D. Dynlacht, Sehyun Kim, Marc J. Glucksman, Zvi U. Borochowitz, John A. Martignetti

Am J Hum Genet. 2013 Dec 5; 93(6): 1061–1071. doi: 10.1016/j.ajhg.2013.10.025

PMCID:: PMC3852924

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Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

Kirk E. Lohmueller, Thomas Sparsø, Qibin Li, Ehm Andersson, Thorfinn Korneliussen, Anders Albrechtsen, Karina Banasik, Niels Grarup, Ingileif Hallgrimsdottir, Kristoffer Kiil, Tuomas O. Kilpeläinen, Nikolaj T. Krarup, Tune H. Pers, Gaston Sanchez, Youna Hu, Michael DeGiorgio, Torben Jørgensen, Annelli Sandbæk, Torsten Lauritzen, Søren Brunak, Karsten Kristiansen, Yingrui Li, Torben Hansen, Jun Wang, Rasmus Nielsen, Oluf Pedersen

Am J Hum Genet. 2013 Dec 5; 93(6): 1072–1086. doi: 10.1016/j.ajhg.2013.11.005

Correction in:: Am J Hum Genet. 2014 Mar 6; 94(3): 479.

PMCID:: PMC3852935

Article PubReader PDF–476K Cite

Mapping eQTLs in the Norfolk Island Genetic Isolate Identifies Candidate Genes for CVD Risk Traits

Miles C. Benton, Rod A. Lea, Donia Macartney-Coxson, Melanie A. Carless, Harald H. Göring, Claire Bellis, Michelle Hanna, David Eccles, Geoffrey K. Chambers, Joanne E. Curran, Jacquie L. Harper, John Blangero, Lyn R. Griffiths

Am J Hum Genet. 2013 Dec 5; 93(6): 1087–1099. doi: 10.1016/j.ajhg.2013.11.004

PMCID:: PMC3853002

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Reports

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Sandra Mercier, Sébastien Küry, Gasnat Shaboodien, Darren T. Houniet, Nonhlanhla P. Khumalo, Chantal Bou-Hanna, Nathalie Bodak, Valérie Cormier-Daire, Albert David, Laurence Faivre, Dominique Figarella-Branger, Romain K. Gherardi, Elise Glen, Antoine Hamel, Christian Laboisse, Cédric Le Caignec, Pierre Lindenbaum, Armelle Magot, Arnold Munnich, Jean-Marie Mussini, Komala Pillay, Thahira Rahman, Richard Redon, Emmanuelle Salort-Campana, Mauro Santibanez-Koref, Christel Thauvin, Sébastien Barbarot, Bernard Keavney, Stéphane Bézieau, Bongani M. Mayosi

Am J Hum Genet. 2013 Dec 5; 93(6): 1100–1107. doi: 10.1016/j.ajhg.2013.10.013

PMCID:: PMC3853004

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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Vandana A. Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J. Todd, Lindsay C. Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F. Clarke, Basil T. Darras, Michelle A. Farrar, Amal Hashem, Nicholas D. Manton, Francesco Muntoni, Kathryn N. North, Sarah A. Sandaradura, Ichizo Nishino, Yukiko K. Hayashi, Caroline A. Sewry, Elizabeth M. Thompson, Kyle S. Yau, Catherine A. Brownstein, Timothy W. Yu, Richard J.N. Allcock, Mark R. Davis, Carina Wallgren-Pettersson, Naomichi Matsumoto, Fowzan S. Alkuraya, Nigel G. Laing, Alan H. Beggs

Am J Hum Genet. 2013 Dec 5; 93(6): 1108–1117. doi: 10.1016/j.ajhg.2013.10.020

PMCID:: PMC3852928

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Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda Jakobsen, Roseli Maria Zechi-Ceide, Myriam Oufadem, Christine Bole-Feysot, Solenn Pruvost, Cécile Masson, Frédéric Tores, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, Philippe Pellerin, Maria Leine Guion-Almeida, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, Arnold Munnich, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel

Am J Hum Genet. 2013 Dec 5; 93(6): 1118–1125. doi: 10.1016/j.ajhg.2013.10.023

PMCID:: PMC3853412

Article PubReader PDF–983K Cite

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

Shipra Bhatia, Hemant Bengani, Margaret Fish, Alison Brown, Maria Teresa Divizia, Riccardo de Marco, Guiseppe Damante, Robert Grainger, Veronica van Heyningen, Dirk A. Kleinjan

Am J Hum Genet. 2013 Dec 5; 93(6): 1126–1134. doi: 10.1016/j.ajhg.2013.10.028

PMCID:: PMC3852925

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SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

David A. Parry, Clare V. Logan, Alexander P.A. Stegmann, Zakia A. Abdelhamed, Alistair Calder, Shabana Khan, David T. Bonthron, Virginia Clowes, Eamonn Sheridan, Neeti Ghali, Albert E. Chudley, Angus Dobbie, Constance T.R.M. Stumpel, Colin A. Johnson

Am J Hum Genet. 2013 Dec 5; 93(6): 1135–1142. doi: 10.1016/j.ajhg.2013.10.027

PMCID:: PMC3853132

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Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

James A. Poulter, Musallam Al-Araimi, Ivan Conte, Maria M. van Genderen, Eamonn Sheridan, Ian M. Carr, David A. Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I. Sergouniotis, Andrew R. Webster, Anthony T. Moore, Bishwanath Pal, Moin D. Mohamed, Anandula Venkataramana, Vedam Ramprasad, Rohit Shetty, Murugan Saktivel, Govindasamy Kumaramanickavel, Alex Tan, David A. Mackey, Alex W. Hewitt, Sandro Banfi, Manir Ali, Chris F. Inglehearn, Carmel Toomes

Am J Hum Genet. 2013 Dec 5; 93(6): 1143–1150. doi: 10.1016/j.ajhg.2013.11.002

PMCID:: PMC3853409

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Letters to the Editor

Estimation of SNP Heritability from Dense Genotype Data

S. Hong Lee, Jian Yang, Guo-Bo Chen, Stephan Ripke, Eli A. Stahl, Christina M. Hultman, Pamela Sklar, Peter M. Visscher, Patrick F. Sullivan, Michael E. Goddard, Naomi R. Wray

Am J Hum Genet. 2013 Dec 5; 93(6): 1151–1155. doi: 10.1016/j.ajhg.2013.10.015

PMCID:: PMC3852919

Article PubReader PDF–107K Cite

Response to Lee et al.: SNP-Based Heritability Analysis with Dense Data

Doug Speed, Gibran Hemani, Michael R. Johnson, David J. Balding

Am J Hum Genet. 2013 Dec 5; 93(6): 1155–1157. doi: 10.1016/j.ajhg.2013.10.016

PMCID:: PMC3852920

Article PubReader PDF–67K Cite

Correction

Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements

Elin Grundberg, Eshwar Meduri, Johanna K. Sandling, Åsa K. Hedman, Sarah Keildson, Alfonso Buil, Stephan Busche, Wei Yuan, James Nisbet, Magdalena Sekowska, Alicja Wilk, Amy Barrett, Kerrin S. Small, Bing Ge, Maxime Caron, So-Youn Shin, the Multiple Tissue Human Expression Resource Consortium, Mark Lathrop, Emmanouil T. Dermitzakis, Mark I. McCarthy, Timothy D. Spector, Jordana T. Bell, Panos Deloukas

Am J Hum Genet. 2013 Dec 5; 93(6): 1158. doi: 10.1016/j.ajhg.2013.11.003

Corrects:: Am J Hum Genet. 2013 Nov 7; 93(5): 876–890.

PMCID:: PMC3853005

Correction PubReader PDF–36K Cite

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics