Genetics in Medicine

Article	Citations
Table of Contents	406
Desperately seeking solutions	250
Editorial Board	247
Table of Contents	216
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	165
Editorial Board	151
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	130
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	121
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	115
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	105
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	84
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	81
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	75
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	74
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	74
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	73
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	67
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	67
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	65
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	65
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	64
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	60
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	60
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	60
The clinical geneticist workforce: Community forums to address challenges and opportunities	59

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	53
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	53
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	51
Editorial Board	50
Scoping review and classification of deep learning in medical genetics	50
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	50
Masthead	49
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	48
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	48
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	46
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	46
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	45
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	45
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)	44
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	42
eP229: A case report of a complex chromosome 8 rearrangement with partial monosomy of 8p and partial trisomy of 8q	42
eP114: De novo prenatal diagnosis of X-linked Acromegaly Gigantism (X-LAG)	42
eP512: Identifying clinical and psychological factors associated with genomics-related outcomes in a centralized sequencing protocol	41
eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome	41
eP509: Implementation and impact of dedicated inpatient genetic counselors in a children’s hospital	41
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing	41
Editorial Board	40
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis	40
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	40
“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	39
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	38
De novo variants are a common cause of genetic hearing loss	37
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size	36
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder	35
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	34
eP018: Late-onset congenital erythropoietic porphyria associated with myeloid malignancy	34
eP462: Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis	34
OP048: The impact of route of delivery on surgical morbidity in fetuses affected by achondroplasia: A multicenter retrospective study	34
eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype	34
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections	34
eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes	34
eP088: Diagnosing a patient with progressive myoclonic epilepsy-12 with variants of uncertain significance on exome sequencing	34
eP244: Rapid exome sequencing influences acute and long-term management of critically unwell children and their families	33
eP270: Incorporating genetic services into adult kidney disease care	33
eP005: Complex glycerol kinase deficiency and X-linked intellectual disability	33
The splicing effect of variants at branchpoint elements in cancer genes	32
eP354: A systematic approach for applying disease-specific phenotype in clinical variant interpretation	32
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	32
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome	31
Masthead	31
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	31
Genetics providers’ perspectives on the use of digital tools in clinical practice	31
Characterization of central manifestations in patients with Niemann-Pick disease type C	30
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia	30
Exploring Autistic adults’ perspectives on genetic testing for autism	30

Challenges for precision public health communication in the era of genomic medicine	30
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	30
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
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	29
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests	29
COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis	29
Reproductive outcomes in individuals with chromosomal reciprocal translocations	29
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders	28
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort	28
Response to Shen et al.	28
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review	28
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum	27
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders	27
Masthead	27
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1	27
eP446: High rates of ‘atypical’ panorama noninvasive prenatal screening results among consanguineous Arab American women	26
Editorial Board	26
Response to Stern	26
eP091: Improving cytogenetic testing utilization in a tertiary care NICU through quality improvement	25
eP198: EIF3F compound heterozygous genotype-phenotype association	25
eP006: Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion	25
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes	25
eP342: Clinical testing of SHOX gene for SHOX deficiency disorders	25
eP249: Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients	25
eP082: Associated recessive retinitis pigmentosa caused by paternal uniparental disomy	25
eP153: WASF2 variants contribute to heart failure phenotypes	25
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria	25
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited	24
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	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
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations	24
OP012: Perceptions of breast and ovarian cancer risk and genetic testing among Non-Hispanic Black women	24
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors	24
Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al	23
Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study	23
Documentation of results and medication prescribing after combinatorial psychiatric pharmacogenetic testing: A case for discrete results	23
Risk of cancer in heterozygous relatives of patients with Fanconi anemia	23
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders	23
Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias	23
Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2	23
Rethinking agency for genetic testing intention among Latinos: Determining predictors of intention for carrier screening and cancer predisposition testing	23
The Parent PrU: A measure to assess personal utility of pediatric genomic results	23
Response to Kiel and Kozaric	23
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics	23
Laboratory business models and practices: implications for availability and access to germline genetic testing	23
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder	23
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants	22
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020	22
eP128: A novel CSNK1E variant in a patient with autism spectrum disorder	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
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants	22
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome	22
eP405: Clinical application of 24-hour ultra-rapid genome sequencing in a critically ill neonate	22
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions	22
eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle	22
eP052: Coding defects in chromosomal segregation and protein targeting are central to TGCT predisposition	22
OP019: A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families	21
eP391: Optical genome mapping for constitutional postnatal SV, CNV, and repeat array sizing: A multi-site clinical study	21
eP426: Utilization of the ACMG ACT sheets and algorithms on the ACMG website	21
eP078: Phenotypes and genotypes in a cohort of children with single ventricle congenital heart disease	21
eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study	21
OP046: Stigma manifestations impact patient and clinical outcomes in cardiogenetic care: “Sometimes it’s depressing. Sometimes I feel like giving up.”	21
eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies	21
eP164: A case report of neurological manifestations and failure to thrive in neurobehavioural disease caused by a variant in RFX7	21
OP059: Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity	21
Editorial Board	20
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank	20
Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma	20
Validation of the International Breast Cancer Intervention Study (IBIS) model in the High Risk Ontario Breast Screening Program: A retrospective cohort study	20
Masthead	20
eP384: Clinical, epidemiological and genetic characteristics of children diagnosed with Multisystem Inflammatory Syndrome (MIS-C) in Kuwait	19
Correspondence on “The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare” by Vockley et al	19
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta	19
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy	19
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies	19
Focused Revision: Policy statement on folic acid and neural tube defects	19
Pancreatic cancer risk to siblings of probands in bilineal cancer settings	19
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	19
High-affinity FcγRIIIa genetic variants and potent NK cell-mediated antibody-dependent cellular cytotoxicity (ADCC) responses contributing to severe COVID-19	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
Privacy practices using genetic data from cell-free DNA aneuploidy screening	19
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes	19
Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks	19
Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing	19
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients	18
Editorial Board	18
Masthead	18
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families	18
The 2019 medical genetics workforce: A focus on laboratory geneticists	18
Table of Contents	18
eP333: Tracking the emergence of SARS-CoV-2 variants of concern in vaccinated and unvaccinated patients	18
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
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort	18
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant	18
Table of Contents	18
Editorial Board	18
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	18
eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity	17
eP034: Novel use of global untargeted metabolomics in a patient with glycogen storage disease Ib receiving off label empagliflozin treatment	17
OP002: Secondary data analysis: Opportunities to advance genetic disease understanding and newborn screening research	17
eP473: Patient attitudes and preferences about expanded noninvasive prenatal screening	17
eP248: Impact of DNA methylation signature exploration for variants of uncertain significance within epigenetic syndromes	17
eP383: Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes	17
eP265: Higher rates of non-skeletal complications in achondroplasia compared to the general population: A UK matched cohort study using CPRD-GOLD database	17
eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation	17
eP154: Predictive genomic medicine for thoracic aortic aneurysm and dissection	16
eP272: Familial pathogenic variant causing osteogenesis imperfecta identified in the Puerto Rican population	16
Fraud in genetic testing: Swindling the system	16
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy	16
OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders	16
eP376: NGS detection of NUDT15 6-bp insertion and UGT1A1 (TA) repeat polymorphism on a preventative genomics assay	16
eP038: A new biochemical assay to measure plasmalogens with CLIR disease differentiation	16
Masthead	16
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity	16
eP041: How long will they wait? Applying updated NCCN criteria to previously unqualified patients reveals missed opportunities for personalized cancer management	16
eP429: Factors associated with the time to complete clinical exome sequencing in a pediatric patient population	16
eP055: The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group	16
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms	16
The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review	15
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome	15
Mainstreaming of clinical genetic testing: A conceptual framework	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
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases	15
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study	15
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4	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
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II	15
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation	15
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior	15
Impact of integrated translational research on clinical exome sequencing	15
Response to Timothé Ménard	15
The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning	15
A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders	14
Standardizing variation: Scaling up clinical genomics in Australia	14
OP016: Mini-COMET: Safety and efficacy of ≥97 weeks’ avalglucosidase alfa in infantile-onset Pompe disease participants previously treated with alglucosidase alfa	14
“Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing	14
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	14
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance	14
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias	14
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	14
Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia	14
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish	14
Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic	14
Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening	14
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders	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
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile	14
eP520: Screening results in 186 any-health-status adults in primary care clinics receiving clinical NGS for 431 health risk and recessive genes	13
eP020: Expanding the clinical spectrum of asparagine synthetase deficiency	13
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder	13
OP047: Timely diagnosis of mucopolysaccharidosis: Results from an innovative physician education program with a national outreach	13
Editorial Board	13
eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort	13
eP203: Genotype/phenotype correlations in Joubert syndrome	13
Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry	13
eP418: Enabling reclassification of missense variants in PKD1/2 – the power of a commercial laboratory database	13
eP108: PPP1CB-related Noonan syndrome with loose anagen hair presenting with focal cortical dysplasia and epilepsy	13
OP011: Physician recommendations after germline sequencing in pediatric cancer patients: Texas KidsCanSeq study	13
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	13
eP332: The importance of parental sequencing depth in the setting of rapid genome sequencing	13
eP201: A phase 2 clinical trial evaluating the safety and efficacy of delandistrogene moxeparvovec for treating patients with Duchenne muscular dystrophy	13
How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey	13
eP341: The full (mutation) picture: One-third of patients with Fragile X syndrome present with neurodevelopmental disorders without dysmorphism or family history	13
Genetic Determinants of Sudden Unexpected Death in Pediatrics	13
Table of Contents	13
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study	12
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse	12
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome	12
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort	12
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2	12
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort	12
Genome sequencing as a first-line diagnostic test for hospitalized infants	12