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Select item 62575541.

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy

Hongyan Diao, Peng Zhu, Yong Dai, Wenbiao Chen

Medicine (Baltimore) 2018 Nov; 97(46): e13117. Published online 2018 Nov 16. doi: 10.1097/MD.0000000000013117

PMCID:: PMC6257554

Abstract Article PDF–202K

Select item 59880332.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Nadia Akawi, Jeremy McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas W. Fitzgerald, Nicola Foulds, Richard Francis, George Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O'Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, Ganesh J. Swaminathan, Peter Turnpenny, James Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia W. Lo, David R. FitzPatrick, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2018 Jun 5.

Published in final edited form as: Nat Genet. 2015 Nov; 47(11): 1363–1369. Published online 2015 Oct 5. doi: 10.1038/ng.3410

PMCID:: PMC5988033

Abstract Article PDF–1.7M

Select item 59922313.

Recent Findings in the Genetics of Blood Pressure: How to Apply in Practice or Is a Moonshot Required?

Sandosh Padmanabhan, Alisha Aman, Anna F. Dominiczak

Curr Hypertens Rep. 2018; 20(6): 54. Published online 2018 Jun 7. doi: 10.1007/s11906-018-0863-1

PMCID:: PMC5992231

Abstract Article PDF–591K

Select item 59923294.

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder

Joanna Martin, Raymond K. Walters, Ditte Demontis, Manuel Mattheisen, S. Hong Lee, Elise Robinson, Isabell Brikell, Laura Ghirardi, Henrik Larsson, Paul Lichtenstein, Nicholas Eriksson, 23andMe Research Team, Psychiatric Genomics Consortium: ADHD Subgroup, iPSYCH–Broad ADHD Workgroup, Thomas Werge, Preben Bo Mortensen, Marianne Giørtz Pedersen, Ole Mors, Merete Nordentoft, David M. Hougaard, Jonas Bybjerg-Grauholm, Naomi R. Wray, Barbara Franke, Stephen V. Faraone, Michael C. O’Donovan, Anita Thapar, Anders D. Børglum, Benjamin M. Neale

Biol Psychiatry. 2018 Jun 15; 83(12): 1044–1053. doi: 10.1016/j.biopsych.2017.11.026

PMCID:: PMC5992329

Abstract Article PDF–1.1M

Select item 60018025.

The Leiden Family Lab study on Social Anxiety Disorder: A multiplex, multigenerational family study on neurocognitive endophenotypes

Janna Marie Bas‐Hoogendam, Anita Harrewijn, Renaud L.M. Tissier, Melle J.W. van der Molen, Henk van Steenbergen, Irene M. van Vliet, Catrien G. Reichart, Jeanine J. Houwing‐Duistermaat, P. Eline Slagboom, Nic J.A. van der Wee, P. Michiel Westenberg

Int J Methods Psychiatr Res. 2018 Jun; 27(2): e1616. Published online 2018 Apr 26. doi: 10.1002/mpr.1616

PMCID:: PMC6001802

Abstract Article PDF–904K

Select item 60488556.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

Orphanet J Rare Dis. 2018; 13: 86. Published online 2018 May 31. doi: 10.1186/s13023-018-0825-3

PMCID:: PMC6048855

Abstract Article PDF–2.1M

Select item 60579227.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Stefanie Brock, Katrien Stouffs, Emmanuel Scalais, Marc D’Hooghe, Kathelijn Keymolen, Renzo Guerrini, William B. Dobyns, Nataliya Di Donato, Anna C. Jansen

Eur J Hum Genet. 2018 Aug; 26(8): 1132–1142. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0146-y

PMCID:: PMC6057922

Abstract Article PDF–3.3M

Select item 60581138.

Carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis overlap in a Filipino with positive HLA-B75 serotype

Francis Capule, Pramote Tragulpiankit, Surakameth Mahasirimongkol, Nuanjun Wichukchinda, Jiraphun Jittikoon, Lara Theresa Alentajan-Aleta, Jay-V James Barit, Josephine Casanova-Gutierrez, Leonor Cabral-Lim, Jose Paciano Baltazar Reyes, Francisca Roa, Katrina Faith San Gabriel, Catherine Lynn Silao

BMJ Case Rep. 2018; 2018: bcr2018225028. Published online 2018 Jul 17. doi: 10.1136/bcr-2018-225028

PMCID:: PMC6058113

Abstract Article PDF–652K

Select item 60993759.

Association of copy number variation across the genome with neuropsychiatric traits in the general population

Anna L. Guyatt, Evie Stergiakouli, Joanna Martin, James Walters, Michael O'Donovan, Michael Owen, Anita Thapar, George Kirov, Santiago Rodriguez, Dheeraj Rai, Stan Zammit, Tom R. Gaunt

Am J Med Genet B Neuropsychiatr Genet. 2018 Jul; 177(5): 489–502. Published online 2018 Apr 24. doi: 10.1002/ajmg.b.32637

PMCID:: PMC6099375

Abstract Article PDF–802K

Select item 612567410.

Performance evaluation of pathogenicity-computation methods for missense variants

Jinchen Li, Tingting Zhao, Yi Zhang, Kun Zhang, Leisheng Shi, Yun Chen, Xingxing Wang, Zhongsheng Sun

Nucleic Acids Res. 2018 Sep 6; 46(15): 7793–7804. Published online 2018 Jul 28. doi: 10.1093/nar/gky678

PMCID:: PMC6125674

Abstract Article PDF–716K

Select item 612922111.

Genome-wide Analysis of Insomnia Disorder

Murray B. Stein, Michael J. McCarthy, Chia-Yen Chen, Sonia Jain, Joel Gelernter, Feng He, Steven G. Heeringa, Ronald C. Kessler, Matthew K. Nock, Stephan Ripke, Xiaoying Sun, Gary H. Wynn, Jordan W. Smoller, Robert J. Ursano

Mol Psychiatry. Author manuscript; available in PMC 2018 Dec 8.

Published in final edited form as: Mol Psychiatry. 2018 Nov; 23(11): 2238–2250. Published online 2018 Mar 8. doi: 10.1038/s41380-018-0033-5

PMCID:: PMC6129221

Abstract Article PDF–802K

Select item 616972812.

The contribution of common genetic risk variants for ADHD to a general factor of childhood psychopathology

Isabell Brikell, Henrik Larsson, Yi Lu, Erik Pettersson, Qi Chen, Ralf Kuja-Halkola, Robert Karlsson, Benjamin B Lahey, Paul Lichtenstein, Joanna Martin

Mol Psychiatry. 2020; 25(8): 1809–1821. Published online 2018 Jun 22. doi: 10.1038/s41380-018-0109-2

PMCID:: PMC6169728

Abstract Article PDF–643K

Select item 620952713.

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

Nancy J. Butcher, Erik Boot, Anthony E. Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S. Bassett

Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Am J Med Genet A. 2018 Oct; 176(10): 2146–2159. Published online 2018 May 19. doi: 10.1002/ajmg.a.38708

PMCID:: PMC6209527

Abstract Article PDF–269K

Select item 624441614.

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic

Nat Commun. 2018; 9: 4885. Published online 2018 Nov 20. doi: 10.1038/s41467-018-07193-y

PMCID:: PMC6244416

Abstract Article PDF–2.9M

Select item 624791115.

The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders

A Jeremy Willsey, Montana T. Morris, Sheng Wang, Helen R. Willsey, Nawei Sun, Nia Teerikorpi, Tierney B. Baum, Gerard Cagney, Kevin J. Bender, Tejal A. Desai, Deepak Srivastava, Graeme W. Davis, Jennifer Doudna, Edward Chang, Vikaas Sohal, Daniel H. Lowenstein, Hao Li, David Agard, Michael J. Keiser, Brian Shoichet, Mark von Zastrow, Lennart Mucke, Steven Finkbeiner, Li Gan, Nenad Sestan, Michael E. Ward, Ruth Huttenhain, Tomasz Nowakowski, Hugo J. Bellen, Loren M. Frank, Mustafa K. Khokha, Richard P. Lifton, Martin Kampmann, Trey Ideker, Matthew W. State, Nevan J. Krogan

Cell. Author manuscript; available in PMC 2019 Jul 26.

Published in final edited form as: Cell. 2018 Jul 26; 174(3): 505–520. doi: 10.1016/j.cell.2018.06.016

PMCID:: PMC6247911

Abstract Article PDF–1.2M

Select item 596860816.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang, Xia Zhang, Xiaomin Liu, Xuefan Gu, Yongguo Yu

BMC Med Genomics. 2018; 11: 49. Published online 2018 May 24. doi: 10.1186/s12920-018-0368-4

PMCID:: PMC5968608

Abstract Article PDF–1.0M

Select item 628827917.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D. Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pascal Joset, Hane Lee, Lisa. J. Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P. Bodine, Nathanial J. Tolman, Patricia M. Zerfas, Allison Zheng, Georgia Ramantani, Katta M. Girisha, Cecilia Rivas, Pujar V. Suresh, Abdel Elkahloun, Hessa S. Alsaif, Salma M. Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Undiagnosed Diseases Network members, Ashok B. Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H. Douglas Morris, Anita Rauch, Julian A. Martinez-Agosto, Stanley F. Nelson, Fowzan S. Alkuraya, William A. Gahl, May Christine V. Malicdan

Am J Hum Genet. 2018 Dec 6; 103(6): 948–967. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.11.001

PMCID:: PMC6288279

Abstract Article PDF–3.4M

Select item 631021518.

The Association between C-Reactive Protein and Postoperative Delirium Differs by Cathechol-O-Methyltransferase Genotype

Sarinnapha M. Vasunilashorn, Long H. Ngo, Richard N. Jones, Sharon K. Inouye, Kathryn T. Hall, Jacqueline Gallagher, Simon T. Dillon, Zhongcong Xie, Towia A. Libermann, Edward R. Marcantonio

Am J Geriatr Psychiatry. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Am J Geriatr Psychiatry. 2019 Jan; 27(1): 1–8. Published online 2018 Sep 14. doi: 10.1016/j.jagp.2018.09.007

PMCID:: PMC6310215

Abstract Article PDF–471K

Select item 632362519.

GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology

Jonas Bovijn, Leigh Jackson, Jenny Censin, Chia-Yen Chen, Triin Laisk, Samantha Laber, Teresa Ferreira, Sara L. Pulit, Craig A. Glastonbury, Jordan W. Smoller, Jamie W. Harrison, Katherine S. Ruth, Robin N. Beaumont, Samuel E. Jones, Jessica Tyrrell, Andrew R. Wood, Michael N. Weedon, Reedik Mägi, Benjamin Neale, Cecilia M. Lindgren, Anna Murray, Michael V. Holmes

Am J Hum Genet. 2019 Jan 3; 104(1): 157–163. Published online 2018 Dec 21. doi: 10.1016/j.ajhg.2018.11.004

PMCID:: PMC6323625

Abstract Article PDF–917K

Select item 632525420.

Individual Differences in Dopamine Are Associated with Reward Discounting in Clinical Groups But Not in Healthy Adults

Jaime J. Castrellon, Kendra L. Seaman, Jennifer L. Crawford, Jacob S. Young, Christopher T. Smith, Linh C. Dang, Ming Hsu, Ronald L. Cowan, David H. Zald, Gregory R. Samanez-Larkin

J Neurosci. 2019 Jan 9; 39(2): 321–332. doi: 10.1523/JNEUROSCI.1984-18.2018

PMCID:: PMC6325254

Abstract Article PDF–640K

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