Specific PHGKB|Reproductive and Child Health PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Apr 18, 2024

Spotlight

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024 (Posted Apr 15, 2024 2PM)

From the abstract: " Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience."

Toward clinical exomes in diagnostics and management of male infertility
C Lillepea et al, AJHG, April 15, 2024 (Posted Apr 15, 2024 2PM)

From the abstract: "Infertility, affecting ~10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%). "

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
S Bahtia et al, EJHG, April 11, 2024 (Posted Apr 12, 2024 9AM)

From the abstract: " Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data on its utility in developing countries. We assessed its diagnostic rate and clinical impact on management of pediatric patients with a suspected genetic disorder requiring critical care. The study was conducted at a single tertiary hospital in Northern India. We analyzed 70 children with an illness requiring intensive care and obtained a precise molecular diagnosis in 32 of 70 probands (45.3%) using diverse sequencing techniques such as clinical exome, whole exome, and whole genome. A significant change in clinical outcome was observed in 13 of 32 (40.6%) diagnosed probands with a change in medication in 11 subjects and redirection to palliative care in two subjects."

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024 4 (Posted Apr 09, 2024 8AM)

From the abstract: " Is early diagnosis through newborn screening associated with improved outcomes in infants with spinal muscular atrophy compared to those diagnosed after onset of symptoms? In this nonrandomized controlled trial within the SMARTCARE registry, patients identified by newborn screening showed better motor development with disease-modifying treatments than those who were diagnosed after onset of symptoms. These results offer supporting evidence for the benefit of newborn screening for spinal muscular atrophy. "

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Newborn Screening: Current Practice and Our Journey over the Last 60 Years.

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Emily Sloper et al. Arch Dis Child 2024

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Blood Spotlight Review on Gene Therapy for Sickle Cell Disease.

Edward J Benz et al. Blood 2024

Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.

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Comprehensive Care in Sickle Cell Disease.

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Katerina Gregorova et al. J Clin Endocrinol Metab 2024

Knowledge gaps and confidence in counseling about aneuploidy screening and testing: A survey of prenatal care clinicians.

M M Thorsen et al. Prenat Diagn 2024

Polygenic risk scores mediating functioning outcomes through cognitive and clinical features in youth at family risk and controls.

Alex G Segura et al. Eur Neuropsychopharmacol 2024 8128-37

Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis.

Amy Wang et al. PLoS One 2024 19(2) e0296942

The detection efficacy of noninvasive prenatal genetic testing (NIPT) for sex chromosome abnormalities and copy number variation and its differentiation in pregnant women of different ages.

Yimei Li et al. Heliyon 2024 10(2) e24155

The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.

Xue Zhang et al. Hum Genomics 2024 18(1) 9

The value of genomic testing in severe childhood speech disorders.

Yan Meng et al. Eur J Hum Genet 2024

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.

Ashraf Yahia et al. Hum Genet 2024

Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context.

Sarah L Malecki et al. Genet Med 2024 101088

Deep Survival Analysis for Interpretable Time-Varying Prediction of Preeclampsia Risk.

Braden W Eberhard et al. medRxiv 2024

The Clinical Use of Artificial Intelligence and Machine Learning in Pediatrics.

Joseph R Hageman et al. Pediatr Ann 2024 53(2) e37-e38

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Fiona Lynch et al. Int J Neonatal Screen 2024 10(1)

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Changhong Wang et al. Mol Genet Genomic Med 2024 12(1) e2352

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Joie O Olayiwola et al. Mol Genet Genomic Med 2024 e2349

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Karyn J Roberts et al. Child Obes 2024

Gene Therapy Versus Common Care for Eligible Individuals With Sickle Cell Disease in the United States : A Cost-Effectiveness Analysis.

Anirban Basu et al. Ann Intern Med 2024

Genetic risk for attention-deficit/hyperactivity disorder predicts cognitive decline and development of Alzheimer's disease pathophysiology in cognitively unimpaired older adults.

Douglas T Leffa et al. Mol Psychiatry 2022 28(3) 1248-1255

Genomic Medicine Guidance: A Point-of-Care App for Heritable Thoracic Aortic Diseases.

Rohan Patil et al. medRxiv 2024

Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

Nathan W P Cantley et al. Int J Neonatal Screen 2024 10(1)

International Atherosclerosis Society Roadmap for Familial Hypercholesterolaemia.

Gerald F Watts et al. Glob Heart 2024 19(1) 12

Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.

Zohreh Talebizadeh et al. Int J Neonatal Screen 2024 10(1)

Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study.

Fan Zhou et al. BMC Pregnancy Childbirth 2024 24(1) 86

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.

Laurent Servais et al. J Neuromuscul Dis 2024

The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit.

Ayman Elfky et al. Cureus 2024 15(12) e50941

The psychological impact of genetic testing in childhood cancer: A systematic review.

Sophie Van Hoyweghen et al. Psychooncology 2024 33(1) e6279

The Psychological Impact on Parents of Children who Receive an Inconclusive Diagnosis for Cystic Fibrosis following Newborn Screening: A Systematic Mini-Review.

Ioanna Loukou et al. Children (Basel) 2024 11(1)

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

E Westenius et al. Ultrasound Obstet Gynecol 2024

Cloud-Integrated Smart Nanomembrane Wearables for Remote Wireless Continuous Health Monitoring of Postpartum Women.

Jared Matthews et al. Adv Sci (Weinh) 2024 e2307609

External evaluation of the Dynamic Criticality Index: A machine learning model to predict future need for ICU care in hospitalized pediatric patients.

Anita K Patel et al. PLoS One 2024 19(1) e0288233

Recommendations for initial diabetic retinopathy screening of diabetic patients using large language model-based artificial intelligence in real-life case scenarios.

Nikhil Gopalakrishnan et al. Int J Retina Vitreous 2024 10(1) 11

Role of artificial intelligence in early detection of congenital heart diseases in neonates.

Haris Ejaz et al. Front Digit Health 2024 51345814

Gene crosstalk between COVID-19 and preeclampsia revealed by blood transcriptome analysis.

Chu Yijing, et al. Frontiers in immunology 2024 0 0. 1243450

Application of Artificial Intelligence in Infant Movement Classification: A Reliability and Validity Study in Infants Who Were Full-Term and Preterm.

Shiang-Chin Lin et al. Phys Ther 2024

Image analysis-based machine learning for the diagnosis of retinopathy of prematurity: A meta-analysis and systematic review.

Yihang Chu et al. Ophthalmol Retina 2024

Predictors of micronutrient deficiency among children aged 6-23 months in Ethiopia: a machine learning approach.

Leykun Getaneh Gebeye et al. Front Nutr 2024 101277048

Assessing management practices for variants of uncertain significance among genetic counselors in pediatrics.

Chloe Cheung et al. J Genet Couns 2024

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9

Challenges experienced by genetic counselors while they provided counseling about mosaic embryos.

Olivia M Moran et al. F S Rep 2024 4(4) 353-360

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.

Alexandra Santana Almansa et al. Ann Clin Transl Neurol 2024

Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.

Carly Eichten et al. J Genet Couns 2024

Evaluation of newborn hearing screening results of infants with phenylketonuria.

Fatih Yüksel et al. Int J Pediatr Otorhinolaryngol 2024 177111840

Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.

Eva Van Steijvoort et al. J Assist Reprod Genet 2024

Genetic contributions to risk of adverse pregnancy outcomes.

Zachary H Hughes et al. Curr Cardiovasc Risk Rep 2024 17(11) 185-193

Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.

Jamie C Fox et al. J AAPOS 2024

Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.

Robert Klitzman et al. J Autism Dev Disord 2023

Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population.

Lauren Isley et al. F S Rep 2024 4(4) 384-389

Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.

Alayne P Meyer et al. J Neuromuscul Dis 2023 11(1) 129-142

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada.

Dean A Regier et al. Genet Med 2024 101069

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.

Blake Vuocolo et al. Res Sq 2024

ScreenPlus: A comprehensive, multi-disorder newborn screening program.

Nicole R Kelly et al. Mol Genet Metab Rep 2024 38101037

Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.

Harriet T Rothschild et al. Prenat Diagn 2023

A comprehensive view of pregnancy in patients with sickle cell disease in high-income countries: the need for robust data and further decline in morbidity and mortality.

Laure Joseph et al. Lancet Haematol 2023 11(1) e75-e84

Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa.

Seth Twum et al. Afr J Lab Med 2023 12(1) 2225

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition.

Anne Munck et al. Int J Neonatal Screen 2023 9(4)

Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.

Sarah Mazzola et al. Am J Otolaryngol 2023 45(2) 104196

Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.

Rafael de Marchi et al. Genes (Basel) 2023 14(12)

Perception of genomic newborn screening among peripartum mothers.

Bernarda Prosenc et al. Eur J Hum Genet 2023

Perceptions and Attitudes Toward Genetic Counselors and Genetic Testing Among Certified Professional Midwives in Vermont: A Modified Grounded Theory Study.

Jazmine L Gabriel et al. Qual Health Res 2023 10497323231222395

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges.

Ana Miguel Capela et al. Endocr Metab Immune Disord Drug Targets 2023

Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR.

Sona Laššáková et al. Sci Rep 2023 13(1) 22948

The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.

Alex A Francoeur et al. Am J Perinatol 2023

Autism Spectrum Disorder Detection by Hybrid Convolutional Recurrent Neural Networks from Structural and Resting State Functional MRI Images.

Emel Koc et al. Autism Res Treat 2023 20234136087

Predicting preterm birth using explainable machine learning in a prospective cohort of nulliparous and multiparous pregnant women.

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Prediction of 2-Year Cognitive Outcomes in Very Preterm Infants Using Machine Learning Methods.

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COVID 19 pandemic and lockdown: A double whammy for patients with thalassemia.

Kakkar Shruti, et al. Acta bio-medica : Atenei Parmensis 2021 0 0. (3) e2021212

In Silico Identification of miRNA-lncRNA Interactions in Male Reproductive Disorder Associated with COVID-19 Infection.

Sabetian Soudabeh, et al. Cells 2021 0 0. (6)

Respiratory Telerehabilitation of Boys and Young Men with Duchenne Muscular Dystrophy in the COVID-19 Pandemic.

Sobierajska-Rek Agnieszka, et al. International journal of environmental research and public health 2021 0 0. (12)

Comorbidities are risk factors for hospitalization and serious COVID-19 illness in children and adults with sickle cell disease.

Mucalo Lana, et al. Blood advances 2021 0 0. (13) 2717-2724

SARS-CoV-2 lineage B.1.1.7 is associated with greater disease severity among hospitalised women but not men

O Stirrup et al, MEDRXIV, June 28, 2021

Expression of SARS-CoV-2 entry genes ACE2 and TMPRSS2 at single cell resolution in the peripartum decidua.

Li Qi, et al. American journal of translational research 2021 0 0. (5) 4389-4400

Inefficient Placental Virus Replication and Absence of Neonatal Cell-Specific Immunity Upon Sars-CoV-2 Infection During Pregnancy.

Tallarek Ann-Christin, et al. Frontiers in immunology 2021 0 0. 698578

Association of Sickle Cell Trait with Risk and Mortality of COVID-19: Results from the United Kingdom Biobank.

Resurreccion W Kyle, et al. The American journal of tropical medicine and hygiene 2021 0 0.

Evaluating the efficacy and safety of human anti-SARS-CoV-2 convalescent plasma in severely ill adults with COVID-19: A structured summary of a study protocol for a randomized controlled trial.

Eckhardt Christina M, et al. Trials 2020 0 0. (1) 499

Individuals with Down syndrome hospitalized with COVID-19 have more severe disease.

Malle Louise, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 0 0. (3) 576-580

Preliminary Findings of mRNA Covid-19 Vaccine Safety in Pregnant Persons.

Shimabukuro Tom T et al. The New England journal of medicine 2021 4 (24) 2273-2282

Using BCG vaccine to enhance non-specific protection of health care workers during the COVID-19 pandemic: A structured summary of a study protocol for a randomised controlled trial in Denmark.

Madsen Anne Marie Rosendahl, et al. Trials 2020 0 0. (1) 799

[Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2].

Faundes Victor, et al. Andes pediatrica : revista Chilena de pediatria 2021 0 0. (2) 309-315

A Patient-Focused Survey to Assess the Effects of the COVID-19 Pandemic and Social Guidelines on People with Muscular Dystrophy.

Eichinger Katy, et al. Muscle & nerve 2021 0 0.

Changes in motor function in Duchenne muscular dystrophy patients after travel restrictions due to COVID-19.

Nishizawa Hitomi, et al. Muscle & nerve 2021 0 0.

Risk Factors Associated With COVID-19 Outcomes Among People With Intellectual and Developmental Disabilities Receiving Residential Services.

Landes Scott D, et al. JAMA network open 2021 0 0. (6) e2112862

The statistical risk of diagnosing coincidental acquired hemophilia A following anti-SARS-CoV-2 vaccination.

Cittone Micol G, et al. Journal of thrombosis and haemostasis : JTH 2021 0 0.

Beneficial Effects of Remote Medical Care for Patients with Hereditary Hemorrhagic Telangiectasia during the COVID-19 Pandemic.

Gaetani Eleonora, et al. Journal of clinical medicine 2021 0 0. (11)

Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families.

Di Giorgio Elisa, et al. International journal of environmental research and public health 2021 0 0. (11)

SARS-CoV-2-Morphology, Transmission and Diagnosis during Pandemic, Review with Element of Meta-Analysis.

Grudlewska-Buda Katarzyna, et al. Journal of clinical medicine 2021 0 0. (9)

COVID-19 in advanced Duchenne/Becker muscular dystrophy patients.

Levine Hagit, et al. Neuromuscular disorders : NMD 2021 0 0.

SARS-CoV-2 Infects Syncytiotrophoblast and Activates Inflammatory Responses in the Placenta.

Argueta Lissenya B, et al. bioRxiv : the preprint server for biology 2021 0 0.

Applying Genomic Epidemiology to Characterize a COVID-19 Outbreak in a Developmentally Disabled Adult Group Home Setting, Arizona.

Yaglom Hayley D et al. Frontiers in public health 2021 6 668214

How the clinical research community responded to the COVID-19 pandemic: an analysis of the COVID-19 clinical studies in ClinicalTrials.gov.

He Zhe, et al. JAMIA open 2021 0 0. (2) ooab032

Probing nano-QSAR to assess the interactions between carbon nanoparticles and a SARS-CoV-2 RNA fragment.

Zhang Fan, et al. Ecotoxicology and environmental safety 2021 0 0. 112357

Coagulation Abnormalities Due to COVID-19 in a Child with Thalassemia: Correspondence.

Mungmunpuntipantip Rujittika, et al. Indian journal of pediatrics 2021 0 0.

Sound prescriptions to mitigate the effects of COVID-19 in the population with Down syndrome.

Verd Sergio, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 0 0.

Effective high-throughput isolation of fully human antibodies targeting infectious pathogens.

Gieselmann Lutz, et al. Nature protocols 2021 0 0.

Population stratification enables modeling effects of reopening policies on mortality and hospitalization rates.

Huang Tongtong, et al. Journal of biomedical informatics 2021 0 0. 103818

Incidence Rate of COVID-19 Infection in Hemoglobinopathies: A Systematic Review and Meta-analysis.

Haghpanah Sezaneh, et al. Hemoglobin 2021 0 0. 1-9

Parsonage-turner syndrome associated with SARS-CoV2 (COVID-19) infection.

Mitry Maria A, et al. Clinical imaging 2020 0 0. 8-10

Toddler With New Onset Diabetes and Atypical Hemolytic-Uremic Syndrome in the Setting of COVID-19.

Alizadeh Faraz, et al. Pediatrics 2020 0 0. (2)

Performance of the TaqMan™ COVID-19 Pooling Kit for detection of SARS-CoV-2 in Asymptomatic and Symptomatic populations at an Institution of Higher Education

Ganz, Troy et al. medRxiv May 21 2021

COVID-19 Lung Lesion Segmentation Using a Sparsely Supervised Mask R-CNN on Chest X-rays Automatically Computed from Volumetric CTs

Ramesh, Vignav et al. arXiv May 19 2021

Implementation Research for the Evaluation of the Child Health Education and Surveillance Tool Application

Westgard, Christopher M et al. Research Square May 11 2021

Higher case fatality rate among obstetric patients with COVID-19 in the second year of pandemic in Brazil: do new genetic variants play a role?

M Libertad et al, MEDRXIV, May 8, 2021

Teletherapy for children with developmental disorders during the COVID-19 pandemic in the Philippines: a mixed-methods evaluation from the perspectives of parents and therapists

KF Eguia et al, MEDRXIV, May 9, 2021

A Cross-National Survey of People Living with Hemophilia: Impact on Daily Living and Patient Education in Central Europe.

Banchev Atanas, et al. Patient preference and adherence 2021 0 0. 871-883

Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome.

Mosbah Helena, et al. Orphanet journal of rare diseases 2021 0 0. (1) 202

Accelerating Epidemiological Investigation Analysis by Using NLP and Knowledge Reasoning: A Case Study on COVID-19.

Wang Jian, et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2021 0 0. 1258-1267

SARS-CoV-2 Infection in Hereditary Hemorrhagic Telangiectasia Patients Suggests Less Clinical Impact Than in the General Population.

Marcos Sol, et al. Journal of clinical medicine 2021 0 0. (9)

SARS-CoV-2 infection in patients with β-thalassemia: Experience from Lebanon.

Bou-Fakhredin Rayan, et al. American journal of hematology 2021 0 0.

Generation of a Sleeping Beauty transposon-based cellular system for rapid and sensitive identification of SARS-CoV-2 host dependency and restriction factors

Widera, Marek et al. bioRxiv April 27 2021

Increased VWF and Decreased ADAMTS-13 in COVID-19: Creating a Milieu for (Micro)Thrombosis.

Favaloro Emmanuel J, et al. Seminars in thrombosis and hemostasis 2021 0 0.

COV-ID: A LAMP sequencing approach for high-throughput co-detection of SARS-CoV-2 and influenza virus in human saliva

RW Thomson et al, MEDRXIV, April 23, 2021

Double stranded RNA drives anti-viral innate immune responses, sickness behavior and cognitive dysfunction dependent on dsRNA length, IFNAR1 expression and age.

McGarry Niamh, et al. Brain, behavior, and immunity 2021 0 0. 413-428

Telemedicine for adult congenital heart disease patients during the first wave of COVID-19 era: a single center experience.

Grandinetti Maria, et al. Journal of cardiovascular medicine (Hagerstown, Md.) 2021 0 0.

Life-threatening DRESS syndrome with kidney damage following severe COVID-19 in a patient with Down syndrome.

Mata Lorena, et al. BMJ case reports 2021 0 0. (4)

Trace Analysis of Emerging Virus: an Ultrasensitive ECL-Scan Imaging System for Viral Infectious Disease

Wu, Yunxia et al. Research Square April 01 2021

A rapid, cost efficient and simple method to identify current SARS-CoV-2 variants of concern by Sanger sequencing part of the spike protein gene

Jorgensen, Tue Sparholt et al. medRxiv March 29 2021

Autism Spectrum Disorder, Family Health History, and Genetics
CDC, March 2021

Viral Haplotypes in COVID-19 Patients Associated with Prolonged Viral Shedding

Wu, Yingping et al. SSRN March 25 2021

COVID-19: ORF8 Synthesizes Nitric Oxide to Break the Blood-Brain/Testi Barrier and Damage the Reproductive System

Wenzhong, Liu et al. ChemRxiv March 24 2021

v-safe COVID-19 Vaccine Pregnancy Registry
CDC, March 2021

Development of multi-epitope peptide-based vaccines against SARS-CoV-2.

Lim Hui Xuan, et al. Biomedical journal 2021 0 0. (1) 18-30

Coagulopathy of hospitalised COVID-19: A Pragmatic Randomised Controlled Trial of Therapeutic Anticoagulation versus Standard Care as a Rapid Response to the COVID-19 Pandemic (RAPID COVID COAG - RAPID Trial): A structured summary of a study protocol for a randomised controlled trial.

Sholzberg Michelle, et al. Trials 2021 0 0. (1) 202

3D U-Net For Segmentation of Covid-19-Associated Pulmonary Infiltrates Using Transfer Learning: State-Of-The-Art Results on Affordable Hardware

Bressem, Keno K et al. Research Square March 11 2021

3D U-Net for segmentation of COVID-19 associated pulmonary infiltrates using transfer learning: State-of-the-art results on affordable hardware

Bressem, Keno K. et al. arXiv January 25 2021

Having Down syndrome increases your risk of severe illness from COVID-19.
CDC, January 7, 2021

[Epidemiological and clinical profile of children with Coronavirus disease (COVID-19) at the Center for the Treatment of Epidemics and Infection Prevention (CTEIP) of the University Hospital of Donka in Conakry].

Camara Emmanuel, et al. The Pan African medical journal 2021 0 0. 363

Early use of corticosteroids in non-critical patients with COVID-19 pneumonia (PREDCOVID): a structured summary of a study protocol for a randomised controlled trial.

Salinas Mauricio, et al. Trials 2021 0 0. (1) 92

Remote assessment in adults with Autism or ADHD: A service user satisfaction survey.

Adamou Marios, et al. PloS one 2021 0 0. (3) e0249237

Direct measurement of B lymphocyte gene expression biomarkers in peripheral blood enables early prediction of seroconversion after vaccination

Huang, Dan et al. bioRxiv December 30 2020

Recent Advances in Computer Audition for Diagnosing COVID-19: An Overview

Qian, Kun et al. arXiv December 08 2020

Network of “drug-target-SARS-CoV-2 Related Genes” Through Integrated Analysis of Pharmacology and Geo Database

Hou, Jin Ping et al. Research Square December 04 2020

Glasgow Early Treatment Arm Favirpiravir (GETAFIX) for adults with early stage COVID-19: A structured summary of a study protocol for a randomised controlled trial.

Hanna Catherine R, et al. Trials 2020 0 0. (1) 935

Clinical, regional, and genetic characteristics of Covid-19 patients from UK Biobank.

Kolin David A, et al. PloS one 2020 0 0. (11) e0241264

Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury.

Li Zheng, et al. Briefings in bioinformatics 2020 0 0. (2) 1291-1296

Clinical and molecular characterization of COVID-19 hospitalized patients

Benetti, Elisa et al. medRxiv November 02 2020

A Machine Learning Study of 534,023 Medicare Beneficiaries with COVID-19: Implications for Personalized Risk Prediction

Dun, Chen et al. medRxiv October 30 2020

Single-cell expression profiles of ACE2 and TMPRSS2 reveals potential vertical transmission and fetus infection of SARS-CoV-2.

Lü Mengdie, et al. Aging 2020 0 0. (20) 19880-19897

Immunity and coagulation and fibrinolytic processes may reduce the risk of severe illness in pregnant women with coronavirus disease 2019.

Zhong Yajuan, et al. American journal of obstetrics and gynecology 2020 0 0. (4) 393.e1-393.e25

The clinical effect of Nano micelles containing curcumin as a therapeutic supplement in patients with COVID-19 and the immune responses balance changes following treatment: A structured summary of a study protocol for a randomised controlled trial.

Hassaniazad Mehdi, et al. Trials 2020 0 0. (1) 876

Clinical Spectrum of Sickle Cell Disease and COVID-19: Laboratory and Clinical Factors Associated with Morbidity and Mortality

Minniti, Caterina P et al. SSRN October 15 2020

A k-mer based approach for virus classification identifies coronavirus infections and viral associations in human and plant microbiomes

Garcia, Benjamin et al. Research Square October 13 2020

A rapid and cost-effective multiplex ARMS-PCR method for the simultaneous genotyping of the circulating SARS-CoV-2 phylogenetic clades

Islam, Md Tanvir et al. medRxiv October 13 2020

Hybrid-COVID: A novel hybrid 2D/3D CNN based on cross-domain adaptation approach for COVID-19 screening from chest X-ray images

Bayoudh, Khaled et al. Research Square October 09 2020

Placental maternal vascular malperfusion affecting late fetuses development and multi-organ infection caused by SARS-CoV-2

Behling, J A K et al. Research Square October 09 2020

The metabolic and immunological characteristics of pregnant women with COVID-19 and their neonates.

Zhou Jingjiao, et al. European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology 2020 0 0. (3) 565-574

Renin Angiotensin System, COVID-19 and Male Fertility: Any Risk for Conceiving?

Pascolo Lorella, et al. Microorganisms 2020 0 0. (10)

SARS-CoV-2 cell entry gene ACE2 expression in immune cells that infiltrate the placenta in infection-associated preterm birth

Lye, Phetcharawan et al. medRxiv September 29 2020

Evaluation of the potency of FDA-approved drugs on wild type and mutant SARS-CoV-2 helicase (Nsp13).

Ugurel Osman Mutluhan, et al. International journal of biological macromolecules 2020 0 0. 1687-1696

Personalized predictive models for symptomatic COVID-19 patients using basic preconditions: Hospitalizations, mortality, and the need for an ICU or ventilator.

Wollenstein-Betech Salomón, et al. International journal of medical informatics 2020 0 0. 104258

Data on COVID-19 during Pregnancy
CDC, August 2020

The effect of prostacyclin (Iloprost) infusion at a dose of 1 ng/kg/min for 72 hours compared to placebo in mechanically ventilated patients with COVID-19: A structured summary of a study protocol for a randomized controlled trial.

Johansson Pär Ingemar, et al. Trials 2020 0 0. (1) 746

The novel roles of choline transporter-like 1 and 2 in ethanolamine transport

Taylor, Adrian et al. bioRxiv August 28 2020

Changes in Cause-of-Death Attribution During the Covid-19 Pandemic: Association with Hospital Quality Metrics and Implications for Future Research

Fairman, Kathleen A et al. medRxiv July 28 2020

Molecular mechanisms of Cardiac Injury associated with myocardial SARS-CoV-2 infection

Liu, Xian Fang et al. bioRxiv July 27 2020

Automated Fast-Flow Synthesis of Antisense Phosphorodiamidate Morpholino Oligomers

Li, Chengxi et al. ChemRxiv July 22 2020

SARS-CoV-2 and Dengue Virus Coinfection in An Adult with Heterozygous Beta Thalassemia: A Case Report from Bangladesh with Literature Review

Hossain, Md Rezaul et al. SSRN July 15 2020

Outpatient treatment of COVID-19 with steroids in the phase of mild pneumonia without the need for admission as an opportunity to modify the course of the disease: A structured summary of a randomised controlled trial.

Saiz-Rodríguez Miriam, et al. Trials 2020 0 0. (1) 632

Genomic modeling as an approach to identify surrogates for use in experimental validation of SARS-CoV-2 and HuNoVs inactivation by UV-C treatment

Pendyala, Brahmaiah et al. bioRxiv June 16 2020

Proactive Prophylaxis With Azithromycin and HydroxyChloroquine in Hospitalised Patients With COVID-19 (ProPAC-COVID): A structured summary of a study protocol for a randomised controlled trial.

Sivapalan Pradeesh, et al. Trials 2020 0 0. (1) 513

The SARS-CoV-2 Ivermectin Navarra-ISGlobal Trial (SAINT) to Evaluate the Potential of Ivermectin to Reduce COVID-19 Transmission in low risk, non-severe COVID-19 patients in the first 48 hours after symptoms onset: A structured summary of a study protocol for a randomized control pilot trial.

Chaccour Carlos, et al. Trials 2020 0 0. (1) 498

Norwegian Coronavirus Disease 2019 (NO COVID-19) Pragmatic Open label Study to assess early use of hydroxychloroquine sulphate in moderately severe hospitalised patients with coronavirus disease 2019: A structured summary of a study protocol for a randomised controlled trial.

Lyngbakken Magnus Nakrem, et al. Trials 2020 0 0. (1) 485

Controlled, double-blind, randomized trial to assess the efficacy and safety of hydroxychloroquine chemoprophylaxis in SARS CoV2 infection in healthcare personnel in the hospital setting: A structured summary of a study protocol for a randomised controlled trial.

Cuadrado-Lavín Antonio, et al. Trials 2020 0 0. (1) 472

AIDCOV: An Interpretable Artificial Intelligence Model for Detection of COVID-19 from Chest Radiography Images

Zokaeinikoo, Maryam et al. medRxiv May 25 2020

Exploratory Study of the Effectiveness of Granulocyte and Monocyte Adsorptive Apheresis Before Initiation of Steroids in Patients with Active Ulcerative Colitis During the COVID-19 Outbreak (EXPECT Study): A Multicenter Prospective Clinical Trial

Kakimoto, Kazuki et al. SSRN May 24 2020

Activation of the SARS-CoV-2 Receptor Ace2 by Cytokines Through Pan JAK-STAT Enhancers

Hennighausen, Lothar et al. SSRN May 22 2020

Development and Validation of Two In-house, Low-Cost SARS-CoV-2 Detection Assays

Alhamlan, Fatimah S et al. medRxiv May 21 2020

REMBRANDT: A high-throughput barcoded sequencing approach for COVID-19 screening

Palmieri, Dario et al. bioRxiv May 17 2020

SARS-CoV-2 transcriptome analysis and molecular cataloguing of immunodominant epitopes for multi-epitope based vaccine design

Kushwaha, Sandeep Kumar et al. bioRxiv May 15 2020

Diagnosis of Coronavirus Disease 2019 (COVID-19) with Structured Latent Multi-View Representation Learning

Kang, Hengyuan et al. arXiv May 06 2020

COVID-DA: Deep Domain Adaptation from Typical Pneumonia to COVID-19

Zhang, Yifan et al. arXiv April 29 2020

'All In': a pragmatic framework for COVID-19 testing and action on a global scale.

Pettit Syril D, et al. EMBO molecular medicine 2020 0 0. (6) e12634

A 16-Year-Old Boy With Cough and Fever in the Era of COVID-19.

Anderson Kelsey R, et al. Pediatrics 2020 0 0. (1)

A 67-Year-Old Woman with Sudden Hearing Loss Associated with SARS-CoV-2 Infection.

Lamounier Pauliana, et al. The American journal of case reports 2020 0 0. e927519

A comprehensive review of the impact of COVID-19 on human reproductive biology, assisted reproduction care and pregnancy: a Canadian perspective.

Madjunkov Mitko, et al. Journal of ovarian research 2020 0 0. (1) 140

A connectivity map-based drug repurposing study and integrative analysis of transcriptomic profiling of SARS-CoV-2 infection.

Mousavi Seyedeh Zahra, et al. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2020 0 0. 104610

An adaptive randomised placebo controlled phase II trial of antivirals for COVID-19 infection (VIRCO): A structured summary of a study protocol for a randomised controlled trial.

McMahon James H, et al. Trials 2020 0 0. (1) 847

Clinical analysis of pregnant women with 2019 novel coronavirus pneumonia.

Chen Siyu, et al. Journal of medical virology 2020 0 0. (9) 1556-1561

Clinical molecular genetics evaluation in women with reproductive failures.

Bilal Mahmood Y, et al. American journal of reproductive immunology (New York, N.Y. : 1989) 2020 0 0. e13313

Could sudden sensorineural hearing loss be the sole manifestation of COVID-19? An investigation into SARS-COV-2 in the etiology of sudden sensorineural hearing loss.

Kilic Osman, et al. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2020 0 0. 208-211

COVID-19 infection in first trimester of pregnancy marked by a liver cytolysis in a woman previously treated by hydroxychloroquine for repeated implantation failure: a case report.

Lamazou F, et al. BMC infectious diseases 2020 0 0. (1) 845

Delay in IVF treatment up to 180 days does not affect pregnancy outcomes in women with diminished ovarian reserve.

Romanski Phillip A, et al. Human reproduction (Oxford, England) 2020 0 0. (7) 1630-1636

Efficacy of a novel SARS-CoV-2 detection kit without RNA extraction and purification.

Fukumoto Tatsuya, et al. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2020 0 0. 16-17

Host-pathogen interaction in COVID-19: Pathogenesis, potential therapeutics and vaccination strategies.

Varghese Praveen Mathews, et al. Immunobiology 2020 0 0. (6) 152008

Is highly expressed ACE 2 in pregnant women "a curse" in times of COVID-19 pandemic?

Dhaundiyal Ankit, et al. Life sciences 2020 0 0. 118676

Is Vertical Transmission of SARS-CoV-2 Infection Possible in Preterm Triplet Pregnancy? A Case Series.

Alwardi Talal Hamood, et al. The Pediatric infectious disease journal 2020 0 0. (12) e456-e458

Maternal and perinatal outcomes of pregnant women with SARS-CoV-2 infection.

, et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 0 0. (2) 232-241

Maternal health care management during the outbreak of coronavirus disease 2019.

Chen Yu, et al. Journal of medical virology 2020 0 0. (7) 731-739

Post lockdown COVID-19 seroprevalence and circulation at the time of delivery, France.

Mattern Jérémie, et al. PloS one 2020 0 0. (10) e0240782

Pregnancy and COVID-19: pharmacologic considerations.

D'Souza R, et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 0 0. (2) 195-203

Prognosis of patients with sickle cell disease and COVID-19: a French experience.

Arlet Jean-Benoît, et al. The Lancet. Haematology 2020 0 0. (9) e632-e634

SARS-CoV-2 in the semen: Where does it come from?

Massarotti Claudia, et al. Andrology 2020 0 0. (1) 39-41

SARS-CoV-2 infection of the placenta.

Hosier Hillary, et al. The Journal of clinical investigation 2020 0 0. (9) 4947-4953

Segmenting areas of potential contamination for adaptive robotic disinfection in built environments.

Hu Da, et al. Building and environment 2020 0 0. 107226

Sickle cell trait and the potential risk of severe coronavirus disease 2019-A mini-review.

Kehinde Tawakalitu Abosede, et al. European journal of haematology 2020 0 0. (5) 519-523

Starting a regional collaborative research group for COVID-19 in pregnancy: the Southern Michigan experience.

Bahado-Singh Ray, et al. Journal of perinatal medicine 2020 0 0. (9) 883-891

The 4 D's of Pellagra and Progress.

Williams Adrian C, et al. International journal of tryptophan research : IJTR 2020 0 0. 1178646920910159

The Efficacy of Famotidine in improvement of outcomes in Hospitalized COVID-19 Patients: A structured summary of a study protocol for a randomised controlled trial.

Samimagham Hamid Reza, et al. Trials 2020 0 0. (1) 848

The SARS-CoV-2 receptor ACE2 expression of maternal-fetal interface and fetal organs by single-cell transcriptome study.

Li Mengmeng, et al. PloS one 2020 0 0. (4) e0230295

Universal screening for SARS-CoV-2 before labor admission during Covid-19 pandemic in Madrid.

Herraiz Ignacio, et al. Journal of perinatal medicine 2020 0 0. (9) 981-984

Vaginal delivery report of a healthy neonate born to a convalescent mother with COVID--19.

Xiong Xiali, et al. Journal of medical virology 2020 0 0. (9) 1657-1659

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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