Search Results - "Clinical Genetics"

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases by Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe

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Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature by Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede

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The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis by Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers

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A comprehensive review of orofacial cleft patients at a university hospital genetic department in the UK by Rajshree Jayarajan, Pradeep Vasudevan

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Current Trends in Cleft Lip and Palate Publications During the Last 10 Years: A Bibliometric Analysis by Ebru Yurdakurban, Serkan Görgülü, Gökhan Serhat Duran, Rüveyda Doğrugören

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Chromosomal Aberrations in Turkish Infertile Couples with Reproductive Problems by Osman Demirhan, Nilgün Tanrıverdi, Dilara Süleymanova

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Case of Congenital Hemolytic Anemia with <i>ATP11C</i> and <i>ANK1</i> Variants by Wei Xu, Mengmeng Ma, Sai Zhao, Yufang Yuan, Zhaofang Tian

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Gestational, perinatal and family findings of patients with Patau syndrome by Rafael Fabiano M. Rosa, Melina Vaz Sarmento, Janaina Borges Polli, Daniela de Paoli Groff, Patrícia Petry, Vinícius Freitas de Mattos, Rosana Cardoso M. Rosa, Patrícia Trevisan, Paulo Ricardo G. Zen

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Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18 by Nadini Cristina Marins Martinez, Sheila Tamanini de Almeida, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen

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DYRK1A-related intellectual disability syndrome: a cohort of Portuguese patients by Raquel Gouveia-Silva, João Rodrigues-Alves, Juliette Dupont, Oana Moldovan, Patrícia Dias, Márcia Rodrigues, Ana Medeira, Ana B. Sousa

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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020

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Frequency of genetic diseases and health coverage of children requiring admission in a general pediatric clinic of northern Greece by Lialiaris Theodoros, Mantadakis Elpis, Kareli Dimitra, Mpountoukas Panagiotis, Tsalkidis Aggelos, Chatzimichail Athanassios

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Prenatal Diagnosis Nomograms: A Novel Tool to Predict Fetal Chromosomal Abnormalities in High-Risk Patients by Zhou Y, Song Z, Sun L, Wang Y, Lin X, Zhang D

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Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns? by Vears DF, Savulescu J, Christodoulou J, Wall M, Newson AJ

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Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists by Julia El Mecky, Lennart Johansson, Mirjam Plantinga, Angela Fenwick, Anneke Lucassen, Trijnie Dijkhuizen, Annemieke van der Hout, Kate Lyle, Irene van Langen

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Implementation and utilization of genetic testing in personalized medicine by Abul-Husn NS, Owusu Obeng A, Sanderson SC, Gottesman O, Scott SA

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Methods for evaluating HER2 status in breast cancer: comparison of IHC, FISH, and real-time PCR analysis of formalin-fixed paraffin-embedded tissue by Olsson H, Jansson A, Holmlund B, Gunnarsson C

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Genotator: A disease-agnostic tool for genetic annotation of disease by Jung Jae-Yoon, Tong Mark, Pivovarov Rimma, Wall Dennis P, Fusaro Vincent A, DeLuca Todd F, Tonellato Peter J

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Patient empowerment: The need to consider it as a measurable patient-reported outcome for chronic conditions by McAllister Marion, Dunn Graham, Payne Katherine, Davies Linda, Todd Chris

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Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) by N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans

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