A New Edition of Genetics in Medicine Is Now Available

April 5, 2021

Genetics in Medicine (vol. 22, no. 3, 2020) is available online by subscription only.

Articles include:

  • “Diagnostic Utility of Transcriptome Sequencing for Rare Mendelian Diseases” by Hane Lee, Alden Y. Huang and Stanley F. Nelson
  • “Low-Pass Genome Sequencing Versus Chromosomal Microarray Analysis: Implementation in Prenatal Diagnosis” by Huilin Wang, Zirui Dong and Kwong Wai Choy
  • “The Genomic and Clinical Landscape of Fetal Akinesia” by Matthias Pergande, Susanne Motameny & Sebahattin Cirak
  • “Widening of the Genetic and Clinical Spectrum of Lamb–Shaffer Syndrome, a Neurodevelopmental Disorder due to SOX5 Haploinsufficiency” by Ash Zawerton, Cyril Mignot and Christel Depienne
  • “De Novo and Inherited Variants in ZNF292 Underlie a Neurodevelopmental Disorder with Features of Autism Spectrum Disorder” by Ghayda M. Mirzaa, Jessica X. Chong and Michael J. Bamshad
  • “POLR1B and Neural Crest Cell Anomalies in Treacher Collins Syndrome Type 4” by Elodie Sanchez, Béryl Laplace-Builhé and David Geneviève
  • “The Implementation of Newborn Screening for Spinal Muscular Atrophy: The Australian Experience” by Didu S. T. Kariyawasam, Jacqueline S. Russell and Michelle A. Farrar
  • “Health-Care Providers’ Perspectives on Uncertainty Generated by Variant forms of Newborn Screening Targets” by Paul J. Azzopardi, Ross E. G. Upshur and Robin Z. Hayeems
  • “Genetic Testing for Parkinson Disease: Current Practice, Knowledge, and Attitudes Among US and Canadian Movement Disorders Specialists” by Roy N. Alcalay, Caitlin Kehoe and Martha Nance
  • “Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta” by Chaya N. Murali, David Cuthbertson and Sandesh C. S. Nagamani
  • “Evaluating the Patient-Reported Outcomes Measurement Information System Scales in Acute Intermittent Porphyria” by Hetanshi Naik, Jessica R. Overbey and Robert J. Desnick
  • “Recurrent Heterozygous PAX6 Missense Variants Cause Severe Bilateral Microphthalmia via Predictable Effects on DNA–Protein Interaction” by Kathleen A. Williamson, H. Nikki Hall and David R. FitzPatrick
  • “Defining Clinical Subgroups and Genotype–Phenotype Correlations in NBAS-Associated Disease Across 110 Patients” by Christian Staufner, Bianca Peters and Dominic Lenz
  • “Functional Characterization of 84 PALB2 Variants of Uncertain Significance” by Timothy Wiltshire, Mandy Ducy and Fergus J. Couch
  • “Is there a Duty to Reinterpret Genetic Data? The Ethical Dimensions” by Paul S. Appelbaum, Erik Parens and Wylie Burke