Results 201 to 210 of about 207,257 (328)

Exome sequencing: value is in the eye of the beholder [PDF]

Genetics in Medicine, 2020
Scott D. Grosse, Sonja A. Rasmussen
openaire   +3 more sources

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. [PDF]

Orphanet J Rare Dis
Makhamreh MM, Shivashankar K, Rice SM, Wodoslawsky S, Grant C, McLaren R, Berger SI, Al-Kouatly HB.   +7 more
europepmc   +1 more source

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability [PDF]

, 2012
Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers   +16 more
openalex   +1 more source

Genetics of Response to ECT, TMS, Ketamine and Esketamine

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Treatment‐resistant mood disorders are often managed with intensive interventions that include electroconvulsive therapy (ECT), transcranial magnetic stimulation (TMS), ketamine, and esketamine, but the role of genetics in clinical response to those interventions is yet to be clearly determined.
Clio E. Franklin, Murat Altinay, Kala Bailey, Mahendra T. Bhati, Brent R. Carr, Susan K. Conroy, Khurshid Khurshid, William M. McDonald, Brian J. Mickey, James W. Murrough, Sean M. Nestor, Thomas Nickl‐Jockschat, Irving M. Reti, Gerard Sanacora, Nicholas T. Trapp, Biju Viswanath, Jesse H. Wright, Peter P. Zandi, James B. Potash   +18 more
wiley   +1 more source

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways

, 2011
Jian Wu, Yuchen Jiao, Marco Dal Molin, Anirban Maitra, Roeland F. de Wilde, Laura D. Wood, James R. Eshleman, Michael Goggins, Christopher L. Wolfgang, Marcia I. Canto, Richard D. Schulick, Barish H. Edil, Michael A. Choti, Volkan Adsay, David S. Klimstra, G. Johan A. Offerhaus, Alison P. Klein, Levy Kopelovich, Hannah Carter, Rachel Karchin, Peter J. Allen, C. Max Schmidt, Yoshiki Naito, Luis A. Díaz, Kenneth W. Kinzler, Nickolas Papadopoulos, Ralph H. Hruban, Bert Vogelstein   +27 more
openalex   +1 more source

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA [PDF]

, 2012
Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash P. Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick   +32 more
openalex   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Clinical Exome Sequencing in Pediatric Patients. [PDF]

Cureus
Görükmez O, Görükmez Ö, Topak A, Arsoy HA.   +3 more
europepmc   +1 more source

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

, 2011
Zhenlin Zhang, Weibo Xia, Jian He, Zeng Zhang, Yaohua Ke, Hua Yue, Chun Wang, Hao Zhang, Jie‐Mei Gu, Weiwei Hu, Wen‐Zhen Fu, Yun-qiu Hu, Miao Li, Yujuan Liu   +13 more
openalex   +1 more source