Genetics in Medicine

Article	Citations
Editorial Board	416
Table of Contents	266
Desperately seeking solutions	252
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	219
Masthead	173
Editorial Board	157
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	130
Table of Contents	124
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	117
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	107
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	87
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	82
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	81
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	78
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	76
Editorial Board	73
Scoping review and classification of deep learning in medical genetics	67
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	66
The clinical geneticist workforce: Community forums to address challenges and opportunities	65
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	65
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	63
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	62
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	61
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	61
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	56

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	54
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	53
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	53
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	52
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	52
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	51
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	51
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	49
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	49
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	48
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	47
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	46
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	46
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	45
eP229: A case report of a complex chromosome 8 rearrangement with partial monosomy of 8p and partial trisomy of 8q	43
eP512: Identifying clinical and psychological factors associated with genomics-related outcomes in a centralized sequencing protocol	43
eP114: De novo prenatal diagnosis of X-linked Acromegaly Gigantism (X-LAG)	43
eP509: Implementation and impact of dedicated inpatient genetic counselors in a children’s hospital	43
eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome	43
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing	43
Challenges for precision public health communication in the era of genomic medicine	42
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome	41
“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	41
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	40
OP048: The impact of route of delivery on surgical morbidity in fetuses affected by achondroplasia: A multicenter retrospective study	39
eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes	38
eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype	38
eP462: Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis	38
eP018: Late-onset congenital erythropoietic porphyria associated with myeloid malignancy	38
eP270: Incorporating genetic services into adult kidney disease care	37
eP088: Diagnosing a patient with progressive myoclonic epilepsy-12 with variants of uncertain significance on exome sequencing	37
eP244: Rapid exome sequencing influences acute and long-term management of critically unwell children and their families	36
eP005: Complex glycerol kinase deficiency and X-linked intellectual disability	35
De novo variants are a common cause of genetic hearing loss	34
eP354: A systematic approach for applying disease-specific phenotype in clinical variant interpretation	34
Characterization of central manifestations in patients with Niemann-Pick disease type C	34
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder	34
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	34
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis	33
Masthead	33
Editorial Board	33
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	33
The splicing effect of variants at branchpoint elements in cancer genes	33
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia	32
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	32
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	32
Genetics providers’ perspectives on the use of digital tools in clinical practice	31
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections	31
Exploring Autistic adults’ perspectives on genetic testing for autism	31
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	31

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	30
Response to Shen et al.	29
Documentation of results and medication prescribing after combinatorial psychiatric pharmacogenetic testing: A case for discrete results	29
COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis	29
Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: A practice resource of the American College of Medical Genetics and Genomics (ACMG)” by	29
The Parent PrU: A measure to assess personal utility of pediatric genomic results	29
Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al	28
Masthead	28
Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias	28
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum	28
Rethinking agency for genetic testing intention among Latinos: Determining predictors of intention for carrier screening and cancer predisposition testing	28
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders	27
Response to Kiel and Kozaric	27
eP446: High rates of ‘atypical’ panorama noninvasive prenatal screening results among consanguineous Arab American women	27
eP153: WASF2 variants contribute to heart failure phenotypes	26
eP006: Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion	26
OP012: Perceptions of breast and ovarian cancer risk and genetic testing among Non-Hispanic Black women	26
eP091: Improving cytogenetic testing utilization in a tertiary care NICU through quality improvement	25
eP342: Clinical testing of SHOX gene for SHOX deficiency disorders	25
eP082: Associated recessive retinitis pigmentosa caused by paternal uniparental disomy	25
eP249: Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients	25
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes	25
Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2	24
Response to Stern	24
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited	24
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations	24
eP198: EIF3F compound heterozygous genotype-phenotype association	24
Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study	24
Risk of cancer in heterozygous relatives of patients with Fanconi anemia	24
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants	24
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests	24
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria	24
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing	24
Editorial Board	24
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome	24
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort	24
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review	23
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020	23
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	23
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders	23
Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma	23
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants	23
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors	23
Editorial Board	23
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics	23
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1	23
eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study	22
eP405: Clinical application of 24-hour ultra-rapid genome sequencing in a critically ill neonate	22
eP040: Breast cancer patients categorized as high-risk of recurrence and/or basal-type molecular subtype by Agendia should universally undergo germline genetic testing	22
eP164: A case report of neurological manifestations and failure to thrive in neurobehavioural disease caused by a variant in RFX7	22
eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle	22
Masthead	22
eP391: Optical genome mapping for constitutional postnatal SV, CNV, and repeat array sizing: A multi-site clinical study	22
eP052: Coding defects in chromosomal segregation and protein targeting are central to TGCT predisposition	22
eP128: A novel CSNK1E variant in a patient with autism spectrum disorder	22
eP078: Phenotypes and genotypes in a cohort of children with single ventricle congenital heart disease	21
OP059: Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity	21
OP019: A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families	21
OP046: Stigma manifestations impact patient and clinical outcomes in cardiogenetic care: “Sometimes it’s depressing. Sometimes I feel like giving up.”	21
eP426: Utilization of the ACMG ACT sheets and algorithms on the ACMG website	21
eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies	21
Focused Revision: Policy statement on folic acid and neural tube defects	21
Validation of the International Breast Cancer Intervention Study (IBIS) model in the High Risk Ontario Breast Screening Program: A retrospective cohort study	20
Correspondence on “The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare” by Vockley et al	20
Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks	20
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy	20
Pancreatic cancer risk to siblings of probands in bilineal cancer settings	20
eP384: Clinical, epidemiological and genetic characteristics of children diagnosed with Multisystem Inflammatory Syndrome (MIS-C) in Kuwait	20
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study	20
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta	20
Correspondence on “No association between FMR1 premutation and either ADHD or anxiety in 53,707 women undergoing genetic testing for family planning purposes” by Klausner et al	19
High-affinity FcγRIIIa genetic variants and potent NK cell-mediated antibody-dependent cellular cytotoxicity (ADCC) responses contributing to severe COVID-19	19
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes	19
Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing	19
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies	19
The 2019 medical genetics workforce: A focus on laboratory geneticists	19
Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells	19
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank	19
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomat	19
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort	19

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients	19
Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives	19
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial	19
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families	19
Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations	18
Table of Contents	18
Masthead	18
Table of Contents	18
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms	18
Editorial Board	18
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity	18
eP333: Tracking the emergence of SARS-CoV-2 variants of concern in vaccinated and unvaccinated patients	18
Response to Timothé Ménard	18
Impact of integrated translational research on clinical exome sequencing	18
Editorial Board	18
Fraud in genetic testing: Swindling the system	18
Masthead	18
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy	18
OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders	17
OP002: Secondary data analysis: Opportunities to advance genetic disease understanding and newborn screening research	17
eP154: Predictive genomic medicine for thoracic aortic aneurysm and dissection	17
eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation	17
eP041: How long will they wait? Applying updated NCCN criteria to previously unqualified patients reveals missed opportunities for personalized cancer management	17
eP376: NGS detection of NUDT15 6-bp insertion and UGT1A1 (TA) repeat polymorphism on a preventative genomics assay	16
eP034: Novel use of global untargeted metabolomics in a patient with glycogen storage disease Ib receiving off label empagliflozin treatment	16
eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity	16
eP272: Familial pathogenic variant causing osteogenesis imperfecta identified in the Puerto Rican population	16
eP383: Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes	16
eP265: Higher rates of non-skeletal complications in achondroplasia compared to the general population: A UK matched cohort study using CPRD-GOLD database	16
eP055: The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group	16
eP038: A new biochemical assay to measure plasmalogens with CLIR disease differentiation	16
eP473: Patient attitudes and preferences about expanded noninvasive prenatal screening	16
eP248: Impact of DNA methylation signature exploration for variants of uncertain significance within epigenetic syndromes	16
eP429: Factors associated with the time to complete clinical exome sequencing in a pediatric patient population	16
Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic	15
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior	15
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	15
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders	15
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile	15
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications	15
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders	15
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance	15
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants	15
PIGG variant pathogenicity assessment reveals characteristic features within 19 families	15
“Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing	15
Genetic Determinants of Sudden Unexpected Death in Pediatrics	15
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4	15
A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders	15
Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure	15
Correspondence on “Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations” by Pantaleo et al	15
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome	15
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation	15
OP016: Mini-COMET: Safety and efficacy of ≥97 weeks’ avalglucosidase alfa in infantile-onset Pompe disease participants previously treated with alglucosidase alfa	15
Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening	15
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Varia	14
Table of Contents	14
OP011: Physician recommendations after germline sequencing in pediatric cancer patients: Texas KidsCanSeq study	14
Standardizing variation: Scaling up clinical genomics in Australia	14
Mainstreaming of clinical genetic testing: A conceptual framework	14
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II	14
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases	14
eP020: Expanding the clinical spectrum of asparagine synthetase deficiency	14
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	14
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish	14
Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia	14
The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review	14
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study	14
Editorial Board	14
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias	14
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation G	14
The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning	14
eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort	13
OP047: Timely diagnosis of mucopolysaccharidosis: Results from an innovative physician education program with a national outreach	13
eP332: The importance of parental sequencing depth in the setting of rapid genome sequencing	13
eP203: Genotype/phenotype correlations in Joubert syndrome	13
How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey	13
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2	13
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer	13
eP341: The full (mutation) picture: One-third of patients with Fragile X syndrome present with neurodevelopmental disorders without dysmorphism or family history	13
eP418: Enabling reclassification of missense variants in PKD1/2 – the power of a commercial laboratory database	13
eP201: A phase 2 clinical trial evaluating the safety and efficacy of delandistrogene moxeparvovec for treating patients with Duchenne muscular dystrophy	13
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder	13
eP520: Screening results in 186 any-health-status adults in primary care clinics receiving clinical NGS for 431 health risk and recessive genes	13
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	13
In This Issue	13
eP108: PPP1CB-related Noonan syndrome with loose anagen hair presenting with focal cortical dysplasia and epilepsy	13
Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry	13
Addendum: Preconception and prenatal testing of biologic fathers for carrier status; Carrier screening in individuals of Ashkenazi Jewish descent; Carrier screening for spinal muscular atrophy	13
Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer	12
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort	12
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome	12
eP125: Variants in obesity-related genes in a population with early-onset obesity	12
Editorial Board	12
eP268: DVL2 – A newly identified genetic cause of Robinow syndrome?	12
Genome sequencing as a first-line diagnostic test for hospitalized infants	12