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Volume 100(2);  2017 Feb 2

Commentary

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Rachel B. Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard, Euan A. Ashley, Jonathan A. Bernstein, William A. Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T. McCray, Vandana Shashi, Cynthia J. Tifft, Undiagnosed Diseases Network, Anastasia L. Wise
Am J Hum Genet. 2017 Feb 2; 100(2): 185–192. Published online 2017 Feb 2. doi: 10.1016/j.ajhg.2017.01.006
PMCID:
PMC5294757
Abstract Article PDF–383K

Articles

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data
Zongxiao He, Di Zhang, Alan E. Renton, Biao Li, Linhai Zhao, Gao T. Wang, Alison M. Goate, Richard Mayeux, Suzanne M. Leal
Am J Hum Genet. 2017 Feb 2; 100(2): 193–204. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.001
Correction in:
Am J Hum Genet. 2017 Feb 2; 100(2): 371.
PMCID:
PMC5294711
Abstract Article PDF–340K
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits
Alanna C. Morrison, Zhuoyi Huang, Bing Yu, Ginger Metcalf, Xiaoming Liu, Christie Ballantyne, Josef Coresh, Fuli Yu, Donna Muzny, Elena Feofanova, Navin Rustagi, Richard Gibbs, Eric Boerwinkle
Am J Hum Genet. 2017 Feb 2; 100(2): 205–215. Published online 2017 Jan 12. doi: 10.1016/j.ajhg.2016.12.009
PMCID:
PMC5294677
Abstract Article PDF–1.0M
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y. Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G. Christoph Korenke, Brian H.Y. Chung, Christopher C.Y. Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M. Strom, Thomas Meitinger, Yasemin Alanay, Gulen E. Utine, Peter K.C. Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B. Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A. Wevers
Am J Hum Genet. 2017 Feb 2; 100(2): 216–227. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.010
Correction in:
Am J Hum Genet. 2020 Aug 6; 107(2): 374.
PMCID:
PMC5294668
Abstract Article PDF–2.6M
The Genetic Architecture of Gene Expression in Peripheral Blood
Luke R. Lloyd-Jones, Alexander Holloway, Allan McRae, Jian Yang, Kerrin Small, Jing Zhao, Biao Zeng, Andrew Bakshi, Andres Metspalu, Manolis Dermitzakis, Greg Gibson, Tim Spector, Grant Montgomery, Tonu Esko, Peter M. Visscher, Joseph E. Powell
Am J Hum Genet. 2017 Feb 2; 100(2): 228–237. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.008
Correction in:
Am J Hum Genet. 2017 Feb 2; 100(2): 371.
PMCID:
PMC5294670
Abstract Article PDF–839K
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice
Gaelle R. Carrat, Ming Hu, Marie-Sophie Nguyen-Tu, Pauline Chabosseau, Kyle J. Gaulton, Martijn van de Bunt, Afshan Siddiq, Mario Falchi, Matthias Thurner, Mickaël Canouil, Francois Pattou, Isabelle Leclerc, Timothy J. Pullen, Matthew C. Cane, Priyanka Prabhala, William Greenwald, Anke Schulte, Piero Marchetti, Mark Ibberson, Patrick E. MacDonald, Jocelyn E. Manning Fox, Anna L. Gloyn, Philippe Froguel, Michele Solimena, Mark I. McCarthy, Guy A. Rutter
Am J Hum Genet. 2017 Feb 2; 100(2): 238–256. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.011
PMCID:
PMC5294761
Abstract Article PDF–2.9M
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L. Huttlin, Joao A. Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff
Am J Hum Genet. 2017 Feb 2; 100(2): 257–266. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.002
PMCID:
PMC5294665
Abstract Article PDF–1.0M
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Quan Li, Kai Wang
Am J Hum Genet. 2017 Feb 2; 100(2): 267–280. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.004
PMCID:
PMC5294755
Abstract Article PDF–1.4M
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Machteld M. Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H. Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Marielle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M. Cale, Ronald J.A. Wanders, Steven T. Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim Strom, Hartmut Engels, Hywel J. Williams, Phil Beales, Ronald Roepman, Patricia Dias, Han G. Brunner, Jan-Maarten Cobben, Christine Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza-Londono, E. Graham Davies, Sérgio B. de Sousa, Davor Lessel, Heleen H. Arts, Taco W. Kuijpers
Am J Hum Genet. 2017 Feb 2; 100(2): 281–296. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.013
PMCID:
PMC5294674
Abstract Article PDF–3.1M
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J. Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen, Alexander Hoischen, Gudrun Nürnberg, Peter Nürnberg, Michael Walter, Frank Rigo, C. Frank Bennett, Min Jeong Kye, Anne C. Hart, Matthias Hammerschmidt, Peter Kloppenburg, Brunhilde Wirth
Am J Hum Genet. 2017 Feb 2; 100(2): 297–315. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.005
PMCID:
PMC5294679
Abstract Article PDF–3.1M

Reports

Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach
Zhiyu Wan, Yevgeniy Vorobeychik, Weiyi Xia, Ellen Wright Clayton, Murat Kantarcioglu, Bradley Malin
Am J Hum Genet. 2017 Feb 2; 100(2): 316–322. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.002
PMCID:
PMC5294764
Abstract Article PDF–1.0M
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
Maxence S. Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E.C. Mellgren, Sabine Leh, Albane Bizet, Daniela A. Braun, Heon Y. Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M. Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J. Oakeley, Pierre Saint Mézard, Andreas W. Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah
Am J Hum Genet. 2017 Feb 2; 100(2): 323–333. Published online 2017 Jan 12. doi: 10.1016/j.ajhg.2016.12.011
Correction in:
Am J Hum Genet. 2017 Feb 2; 100(2): 372.
PMCID:
PMC5294754
Abstract Article PDF–3.3M
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Gavin Arno, Keren J. Carss, Sarah Hull, Ceniz Zihni, Anthony G. Robson, Alessia Fiorentino, UK Inherited Retinal Disease Consortium, Alison J. Hardcastle, Graham E. Holder, Michael E. Cheetham, Vincent Plagnol, NIHR Bioresource - Rare Diseases Consortium, Anthony T. Moore, F. Lucy Raymond, Karl Matter, Maria S. Balda, Andrew R. Webster
Am J Hum Genet. 2017 Feb 2; 100(2): 334–342. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2016.12.014
PMCID:
PMC5294887
Abstract Article PDF–1.6M
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi
Am J Hum Genet. 2017 Feb 2; 100(2): 343–351. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2016.12.013
PMCID:
PMC5294886
Abstract Article PDF–1.8M
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N. Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, Stephan J. Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice L. Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M. Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Am J Hum Genet. 2017 Feb 2; 100(2): 352–363. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.003
Correction in:
Am J Hum Genet. 2017 Apr 6; 100(4): 689.
PMCID:
PMC5294671
Abstract Article PDF–1.8M
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
John Y.W. Lee, Chao-Kai Hsu, Magdalene Michael, Arti Nanda, Lu Liu, James R. McMillan, Celine Pourreyron, Takuya Takeichi, Jakub Tolar, Evan Reid, Thomas Hayday, Sergiu C. Blumen, Saif Abu-Mouch, Rachel Straussberg, Lina Basel-Vanagaite, Yael Barhum, Yasmin Zouabi, Hejab Al-Ajmi, Hsin-Yu Huang, Ting-Chien Lin, Masashi Akiyama, Julia Y.Y. Lee, W.H. Irwin McLean, Michael A. Simpson, Maddy Parsons, John A. McGrath
Am J Hum Genet. 2017 Feb 2; 100(2): 364–370. Published online 2017 Feb 2. doi: 10.1016/j.ajhg.2017.01.014
PMCID:
PMC5294675
Abstract Article PDF–1.2M

Corrections

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data
Zongxiao He, Di Zhang, Alan E. Renton, Biao Li, Linhai Zhao, Gao T. Wang, Alison M. Goate, Richard Mayeux, Suzanne M. Leal
Am J Hum Genet. 2017 Feb 2; 100(2): 371. Published online 2017 Feb 2. doi: 10.1016/j.ajhg.2017.01.029
Corrects:
Am J Hum Genet. 2017 Feb 2; 100(2): 193–204.
PMCID:
PMC5294747
Correction PDF–53K
The Genetic Architecture of Gene Expression in Peripheral Blood
Luke R. Lloyd-Jones, Alexander Holloway, Allan McRae, Jian Yang, Kerrin Small, Jing Zhao, Biao Zeng, Andrew Bakshi, Andres Metspalu, Manolis Dermitzakis, Greg Gibson, Tim Spector, Grant Montgomery, Tonu Esko, Peter M. Visscher, Joseph E. Powell
Am J Hum Genet. 2017 Feb 2; 100(2): 371. Published online 2017 Feb 2. doi: 10.1016/j.ajhg.2017.01.026
Corrects:
Am J Hum Genet. 2017 Feb 2; 100(2): 228–237.
PMCID:
PMC5802995
Correction PDF–53K
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
Maxence S. Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E.C. Mellgren, Sabine Leh, Albane Bizet, Daniela A. Braun, Heon Y. Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M. Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J. Oakeley, Pierre Saint Mézard, Andreas W. Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah
Am J Hum Genet. 2017 Feb 2; 100(2): 372. Published online 2017 Feb 2. doi: 10.1016/j.ajhg.2017.01.025
Corrects:
Am J Hum Genet. 2017 Feb 2; 100(2): 323–333.
PMCID:
PMC5802996
Correction PDF–52K
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics
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