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The Application of Clinical Genetics

The Application of Clinical Genetics, 2012
Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
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Pitfalls in clinical genetics

Singapore Medical Journal, 2023
With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ...
Hui-Lin Chin, Denise Li Meng Goh
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A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
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Blueprint for building a patient-centered hereditary cancer program based on stakeholder perspectives [PDF]

Gynecologic Oncology Reports
Objectives: As the need for clinical cancer genetics services continues to rise, health systems must strategize on how best to deliver this specialized care.
Tamar Nicole Soussana, Michelle Primiano, Muhammad Danyal Ahsan, Carolyn Baron, Lauren Mitchell, Ravi N. Sharaf, Melissa K. Frey   +6 more
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Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

The Application of Clinical Genetics, 2012
Gregory Costain1,2, Anne S Bassett1–41Clinical Genetics Research Program, Centre for Addiction and Mental Health, 2Institute of Medical Science, University of Toronto, 3Division of Cardiology, Department of Medicine and Department of Psychiatry,
Costain G, Bassett AS
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Wilms tumor (nephroblastoma) – clinical and genetic aspects

Nowotwory, 2022
Nephroblastoma (Wilms tumor – WT) is the most common kidney tumor among the pediatric population, fifth among malignant neoplasms and third among solid tumors. The most common type of WT is sporadic and unilateral.
Małgorzata Janeczko-Czarnecka, Ryszard Ślęzak, Wojciech Pietras, Katarzyna Kilis Pstrusinska   +3 more
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Clinical Genetics: A Review

Journal of the Royal College of Physicians of London, 1988
Burn, John
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Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

iScience, 2021
Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
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Human variation in population-wide gene expression data predicts gene perturbation phenotype

iScience, 2022
Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, Laura L. Sun, Benedikt Reiz, Ioanna Gemünd, Adem Saglam, Souad Rahmouni, Michel Georges, Peer Arts, Alexander Hoischen, Leo A.B. Joosten, Frank L. van de Veerdonk, Mihai G. Netea, Kristian Händler, Sach Mukherjee, Thomas Ulas, Joachim L. Schultze, Anna C. Aschenbrenner   +18 more
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Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms

iScience, 2022
Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J. Arsenault, Patrick Mathieu   +9 more
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