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https://www.readbyqxmd.com/read/28076437/mutations-in-splicing-factor-genes-are-a-major-cause-of-autosomal-dominant-retinitis-pigmentosa-in-belgian-families
#1
Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P Leroy, Elfride De Baere
PURPOSE: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition. METHODS: Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-resolution copy number screening (customized microarray-based comparative genomic hybridization)...
2017: PloS One
https://www.readbyqxmd.com/read/28055022/laboratory-diagnosis-of-creatine-deficiency-syndromes-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#2
J Daniel Sharer, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M C Wamelink, Sarah Young
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
January 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28055021/laboratory-and-clinical-genomic-data-sharing-is-crucial-to-improving-genetic-health-care-a-position-statement-of-the-american-college-of-medical-genetics-and-genomics
#3
Acmg Board Of Directors
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers, to help them provide quality medical genetic services. Adherence to these recommendations does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
January 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28007021/implementation-of-next-generation-sequencing-into-pediatric-hematology-oncology-practice-moving-beyond-actionable-alterations
#4
Jennifer A Oberg, Julia L Glade Bender, Maria Luisa Sulis, Danielle Pendrick, Anthony N Sireci, Susan J Hsiao, Andrew T Turk, Filemon S Dela Cruz, Hanina Hibshoosh, Helen Remotti, Rebecca J Zylber, Jiuhong Pang, Daniel Diolaiti, Carrie Koval, Stuart J Andrews, James H Garvin, Darrell J Yamashiro, Wendy K Chung, Stephen G Emerson, Peter L Nagy, Mahesh M Mansukhani, Andrew L Kung
BACKGROUND: Molecular characterization has the potential to advance the management of pediatric cancer and high-risk hematologic disease. The clinical integration of genome sequencing into standard clinical practice has been limited and the potential utility of genome sequencing to identify clinically impactful information beyond targetable alterations has been underestimated. METHODS: The Precision in Pediatric Sequencing (PIPseq) Program at Columbia University Medical Center instituted prospective clinical next generation sequencing (NGS) for pediatric cancer and hematologic disorders at risk for treatment failure...
December 23, 2016: Genome Medicine
https://www.readbyqxmd.com/read/28005958/novel-candidate-genes-and-a-wide-spectrum-of-structural-and-point-mutations-responsible-for-inherited-retinal-dystrophies-revealed-by-exome-sequencing
#5
Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte
BACKGROUND: NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD). METHODS: A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. Initial prioritization analysis included around 300 IRD-associated genes. In non-diagnosed families a search for pathogenic mutations in novel genes was undertaken...
2016: PloS One
https://www.readbyqxmd.com/read/27980226/novel-phenotypes-of-nf1-patients-from-unrelated-chinese-families-with-tibial-pseudarthrosis-and-anemia
#6
Santasree Banerjee, Dongzhu Lei, Shengran Liang, Li Yang, Saijun Liu, Zhu Wei, Jian Ping Tang
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated families, showing extreme phenotypic variation with rare phenotype. In family 1, the proband is a 16 months old girl with multiple café-au-lait spots throughout her whole body...
December 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27908638/using-the-acmge-milestones-as-a-handover-tool-from-medical-school-to-surgery-residency
#7
Lauren M Wancata, Helen Morgan, Gurjit Sandhu, Sally Santen, David T Hughes
OBJECTIVE: To map current medical school assessments for graduating students to the Accreditation Council for Graduate Medical Education (ACGME) milestones in general surgery, and to pass forward individual performance metrics on level 1 milestones to receiving residency programs. DESIGN: The study included 20 senior medical students who were accepted into surgery internship positions. Data from medical school performance assessments from the third-year surgery clerkship, fourth-year surgery rotations, fourth-year surgery boot camp, Clinical Competency Assessment Examination, and United States Medical Licensing Examination (USMLE) Step 1 and 2 examinations were used to map each student's competency assessments to the General Surgery Milestones based on a scoring system created and validated by independent assessors...
November 28, 2016: Journal of Surgical Education
https://www.readbyqxmd.com/read/27888232/parents-perspectives-on-whole-genome-sequencing-for-their-children-qualified-enthusiasm
#8
J A Anderson, M S Meyn, C Shuman, R Zlotnik Shaul, L E Mantella, M J Szego, S Bowdin, N Monfared, R Z Hayeems
OBJECTIVE: To better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and facilitate its evidence-based clinical implementation, we studied parents' experiences with WGS and their preferences for the return of adult-onset secondary variants (SVs)-medically actionable genomic variants unrelated to their child's current medical condition that predict adult-onset disease. METHODS: We conducted qualitative interviews with parents whose children were undergoing WGS as part of the SickKids Genome Clinic, a research project that studies the impact of clinical WGS on patients, families, and the healthcare system...
November 25, 2016: Journal of Medical Ethics
https://www.readbyqxmd.com/read/27854360/recommendations-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-2016-update-acmg-sf-v2-0-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics
#9
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf, Kent D McKelvey, Kelly E Ormond, C Sue Richards, Christopher N Vlangos, Michael Watson, Christa L Martin, David T Miller
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
November 17, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27671536/a-first-line-diagnostic-assay-for-limb-girdle-muscular-dystrophy-and-other-myopathies
#10
Dorota Monies, Hindi N Alhindi, Mohamed A Almuhaizea, Mohamed Abouelhoda, Anas M Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M Wakil, Nada A Altassan, Brian F Meyer, Saeed Bohlega
BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes...
September 27, 2016: Human Genomics
https://www.readbyqxmd.com/read/27648269/functional-characterization-of-a-gfap-variant-of-uncertain-significance-in-an-alexander-disease-case-within-the-setting-of-an-individualized-medicine-clinic
#11
Nicole J Boczek, Ashley N Sigafoos, Michael T Zimmermann, Rachel L Maus, Margot A Cousin, Patrick R Blackburn, Raul Urrutia, Karl J Clark, Marc C Patterson, Myra J Wick, Eric W Klee
A de novo GFAP variant, p.R376W, was identified in a child presenting with hypotonia, developmental delay, and abnormal brain MRI. Following the 2015 ACMG variant classification guidelines and the functional studies showing protein aggregate formation in vitro, p.R376W should be classified as a pathogenic variant, causative for Alexander disease.
September 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27538377/integration-of-60-000-exomes-and-acmg-guidelines-question-the-role-of-catecholaminergic-polymorphic-ventricular-tachycardia-associated-variants
#12
C Paludan-Müller, G Ahlberg, J Ghouse, C Herfelt, J H Svendsen, S Haunsø, J K Kanters, M S Olesen
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a highly lethal cardiac arrhythmia disease occurring during exercise or psychological stress. CPVT has an estimated prevalence of 1:10,000 and has mainly been associated with variants in calcium-regulating genes. Identification of potential false-positive pathogenic variants was conducted by searching the Exome Aggregation Consortium (ExAC) database (n = 60,706) for variants reported to be associated with CPVT. The pathogenicity of the interrogated variants was assessed using guidelines from the American College of Medical Genetics and Genomics (ACMG) and in silico prediction tools...
January 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27537055/identification-of-variants-in-genes-associated-with-single-gene-inflammatory-bowel-disease-by-whole-exome-sequencing
#13
James J Ashton, Gaia Andreoletti, Tracy Coelho, Rachel Haggarty, Akshay Batra, Nadeem A Afzal, R Mark Beattie, Sarah Ennis
BACKGROUND: Most cases of inflammatory bowel disease (IBD) are caused by complex host-environment interaction. There are a number of conditions associated with a single-gene mutation, most cases are very early onset (aged < 6 yr), present with a unique form of disease and often have atypical features. METHODS: Whole-exome data for 147 pediatric patients with IBD were interrogated for a panel of 51 genes associated with monogenic IBD. Observed variation was categorized according to the American College of Medical Genetics (ACMG) guidelines to identify rare, novel, and known variants that might contribute to IBD...
October 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/27467455/2016-acmg-annual-meeting-presidential-address-the-practice-of-medical-genetics-myths-and-realities
#14
Gerald L Feldman
No abstract text is available yet for this article.
September 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27467454/noninvasive-prenatal-screening-for-fetal-aneuploidy-2016-update-a-position-statement-of-the-american-college-of-medical-genetics-and-genomics
#15
Anthony R Gregg, Brian G Skotko, Judith L Benkendorf, Kristin G Monaghan, Komal Bajaj, Robert G Best, Susan Klugman, Michael S Watson
This statement is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
October 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27467453/efhc1-variants-in-juvenile-myoclonic-epilepsy-reanalysis-according-to-nhgri-and-acmg-guidelines-for-assigning-disease-causality
#16
Julia N Bailey, Christopher Patterson, Laurence de Nijs, Reyna M Durón, Viet-Huong Nguyen, Miyabi Tanaka, Marco T Medina, Aurelio Jara-Prado, Iris E Martínez-Juárez, Adriana Ochoa, Yolli Molina, Toshimitsu Suzuki, María E Alonso, Jenny E Wight, Yu-Chen Lin, Laura Guilhoto, Elza Marcia Targas Yacubian, Jesús Machado-Salas, Andrea Daga, Kazuhiro Yamakawa, Thierry M Grisar, Bernard Lakaye, Antonio V Delgado-Escueta
PURPOSE: EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions of juvenile myoclonic epilepsy (JME). We reanalyzed 54 EFHC1 variants associated with epilepsy from 17 cohorts based on National Human Genome Research Institute (NHGRI) and American College of Medical Genetics and Genomics (ACMG) guidelines for interpretation of sequence variants. METHODS: We calculated Bayesian LOD scores for variants in coinheritance, unconditional exact tests and odds ratios (OR) in case-control associations, allele frequencies in genome databases, and predictions for conservation/pathogenicity...
July 28, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27392081/performance-of-acmg-amp-variant-interpretation-guidelines-among-nine-laboratories-in-the-clinical-sequencing-exploratory-research-consortium
#17
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin, Greg M Cooper, Michael O Dorschner, Matthew C Dulik, Arezou A Ghazani, Rajarshi Ghosh, Robert C Green, Ragan Hart, Carrie Horton, Jennifer J Johnston, Matthew S Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M Pak, Ronak Y Patel, Sumit Punj, Carolyn Sue Richards, Joseph Salama, Natasha T Strande, Yaping Yang, Sharon E Plon, Leslie G Biesecker, Heidi L Rehm
No abstract text is available yet for this article.
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27311196/-ethical-issues-in-genome-era
#18
REVIEW
Shinji Kosugi
Handling of personal genome information is one of the most important current ethical issues in the era of next generation sequencer which is technically progressing at a furious speed, making it 100,000 times faster in only in five years. The author picked up topics of(1) research and clinical guidelines of handling of human genome information, (2) incidental and secondary findings of next generation sequencer in clinical exome and genome sequencing, and (3) so-called direct-to-consumer genetic testing services...
June 2016: Nihon Rinsho. Japanese Journal of Clinical Medicine
https://www.readbyqxmd.com/read/27240497/waardenburg-syndrome-type-ii-in-a-chinese-patient-caused-by-a-novel-nonsense-mutation-in-the-sox10-gene
#19
Jing Ma, Tie-Song Zhang, Ken Lin, Hao Sun, Hong-Chao Jiang, Yan-Li Yang, Fan Low, Ying-Qin Gao, Biao Ruan
OBJECTIVE: Waardenburg syndrome is a congenital genetic disorder. It is the most common type of syndromic hearing impairment with highly genetic heterogeneity and proved to be related by 6 genes as follows: PAX3, MITF, SNAI2, EDN3, EDNRB and SOX10. This article aims to identify the genetic causes of a Chinese WS child patient. METHODS: A Chinese WS child was collected for clinical data collection by questionnaire survey. DNA samples of proband and his parents were extracted from peripheral blood samples...
June 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27236918/consideration-of-cosegregation-in-the-pathogenicity-classification-of-genomic-variants
#20
Gail P Jarvik, Brian L Browning
The American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) recently published important new guidelines aiming to improve and standardize the pathogenicity classification of genomic variants. The Clinical Sequencing Exploratory Research (CSER) consortium evaluated the use of these guidelines across nine laboratories. One identified obstacle to consistent usage of the ACMG-AMP guidelines is the lack of a definition of cosegregation as criteria for pathogenicity classification...
June 2, 2016: American Journal of Human Genetics
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