Genetics in Medicine

Article	Citations
Predictors of low bone density and fracture risk in Loeys–Dietz syndrome	402
Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing	382
Editorial Board	317
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders	183
The clinical geneticist workforce: Community forums to address challenges and opportunities	173
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax	164
Microcosting genomics: Challenges and opportunities	119
Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic	106
Provision and availability of genomic medicine services in Level IV neonatal intensive care units	105
Editorial Board	98
Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data	87
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing	87
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies	81
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	78
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations	72
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	70
The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature	69
The training of future clinical geneticists: Evaluation and reflection on the ACMG Foundation for Genetic and Genomic Medicine Summer Genetics Scholars Program	66
eP143: Newborn screening for X-linked adrenoleukodystrophy: Identification of isodisomy of X in an affected female infant	65
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	65
eP053: Detection of rare and novel fusions in pediatric B-Lymphoblastic Leukemia (B-ALL) by capture-based transcriptome sequencing (RNA-Seq)	61
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	56
eP167: The impact of glycogen storage disease type III on children and adults: Results from an online survey	56
eP060: Characterizing the complex chromosomal rearrangements in a Philadelphia negative BCR/ABL1 positive case	55
eP225: Novel compound variants in IGHMBP2 associated with CMT	55

eP222: Gene variant and neuromuscular findings from a long-chain fatty acid oxidation disorder gene panel program	54
eP062: Clinically significant goiters as the initial presentation of PTEN hamartoma tumor syndrome	52
eP171: Family of three with truncating pathogenic variant in NFIA leading to central nervous system and urinary tract defects	51
eP068: Homozygous SMN1 single nucleotide variant in a patient with SMA type 0	51
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	49
eP145: Severe Pierre Robin sequence and hydrocephalus in infant with TUBB3 variant	49
eP191: Isodicentric(Y)(p11.2) mosaicism in newborn with 46,XX cells	49
eP245: INCEPTUS multinational, prospective, natural history, run-in study of males with X-linked myotubular myopathy	49
eP317: Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement	48
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	48
eP258: Pre-analytical considerations are important in the pharmacological assessment of enzyme therapeutics	46
eP227: Placental accelerated aging in antenatal depression	46
eP279: More renal genetics specialists are needed: Experience from a tertiary medical center	45
eP080: A rare case of mosaic trisomy 15 with chylothorax	44
eP434: Celebrating and commemorating the 2022 bicentennial of Mendel’s birth, the exhumation of Mendel's body for archeologic, anthropologic, and genomic research	43
eP138: An informatics star allele calling workflow for direct typing of CYP2D6 from fully phased variants using PacBio HiFi reads	43
eP312: Exon level array utility in follow up to identification of copy number variants on expanded carrier screening	43
eP324: Biallelic variants in DLL1 as a novel cause of severe spondylocostal dysostosis	42
eP361: Democratizing carrier screening: A 34-gene panel of routine and challenging targets resolved using a single workflow	39
eP093: De novo interstitial deletion of chromosome 7p22.1p21.2: A case report	38
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	38
eP323: Case-control study to identify key residues and domains within hereditary renal disease gene panel to aid in VUS reclassification	38
eP367: How a GUS can fly: Triaging genes of uncertain significance in a clinical laboratory setting	38
eP382: Providing more answers for patients with supplemental RNA analysis	37
eP416: Assessment of the clinical implication of additional cytogenetic abnormalities in acute lymphoblastic leukemia with t(4;11)(q21;q23)	37
eP466: The use of next generation prenatal screening in a low resource setting among Non-Hispanic Black and Hispanic patients	37
eP213: Phase 2 multiple ascending-dose study of SRP-5051 PPMO in patients with DMD amenable to exon 51 skipping: Part A results	37
eP428: Gender and sex discordance in genetic testing: Mayo Clinic Genomics Laboratory experience	37
eP395: Calculating recurrence risk in an individual with an intrachromosomal structural rearrangement	37
eP075: The evolution of a diagnostic odyssey	36
eP441: Evaluation of growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening	36
eP285: Hidden threats: Identifying genetic risks for cardiomyopathy complications in healthy pregnant women	35
eP480: Project ECHO for pediatric genetics in Mississippi: Expanding access to the clinical genetics workup for autism and intellectual disability	35
eP444: Cases of isodicentric and isochromosome-related false negatives on SNP-based cell free DNA aneuploidy screening	35
eP404: Evidence supporting the pathogenicity of the NADSYN1 c.1717G>A (p.Ala573Thr) variant in individuals referred for clinical testing	35
eP478: Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: A web-based panel discussion	35
eP453: Diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) in the postpartum period: A case report	35
eP134: Functional characterization of Variants of Uncertain Significance (VUSs) identified in patients with early-life epilepsy in Hong Kong	34
eP214: Prevalence of cardiac manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami	34
eP438: Ethical issues related to gene therapy with onasemnogene abeparvovec for spinal muscular atrophy type 1 in a developing country	34
eP205: Pharmacogenetic profiling via genome sequencing in children with medical complexity	34
eP320: AI-based method to estimate the probability of a variant being an artifact	34
eP390: Leveraging unique chromosomal microarray probes to resolve complex copy number variation at the highly homologous deafness-infertility syndrome locus at 15q15.3	34
eP388: Optical genome mapping capability expanded to enable detection of absence of heterozygosity	33
eP063: Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce	33
eP381: Diverse presentation of PARK2 gene variant patients: Array CGH study of nine cases with PARK2 disruption	33
eP007: Delayed onset hyperammonemic encephalopathy in an adult with GLUD1 deficiency	33
eP492: The ScreenPlus model for collective funding of pilot newborn screening	33
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	33
eP495: Introduction to Odyssey: Real-world rare disease data collection program for patients with long-chain fatty acid oxidation disorders in the US	32

eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative	32
eP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male	32
eP508: Integration of personalized medicine into primary care clinics: A path to make large scale population genomics studies successful	31
eP513: “Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing	31
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	31
OP026: Genetic counseling for personal health risk in individuals heterozygous for hypophosphatasia variants identified through expanded carrier screening	31
eP511: Improved insurance coverage of exome sequencing in an outpatient medical genetics clinic increases in diagnoses and positively impacts clinical management	31
OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method.	31
OP028: At the intersection of technology and genetics: A pilot study exploring virtual assistant use with non-invasive prenatal screening result disclosure	30
OP036: Application of RNA sequencing evidence improves equity in variant interpretation	30
OP025: Integration of genome sequencing in the inpatient setting: A mixed methods study exploring collaboration models between genetics and bedside teams	30
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	29
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	29
OP051: Genetic characteristics and prenatal phenotyping of RASopathy spectrum diagnosed by exome sequencing for nonimmune hydrops fetalis	29
OP060: Rare diseases, common barriers: Disparities in clinical genetics outcomes	28
eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy	28
eP268: DVL2 – A newly identified genetic cause of Robinow syndrome?	27
eP186: Novel SNRPE-related spliceosomopathy characterized by microcephaly and congenital atrichia	27
eP043: Membrane Metalloendopeptidase (MME) positively regulates Phosphoinositide 3-Kinase (PI3K) signaling in triple negative breast cancer	27
eP064: Consumer-initiated genetic testing identifies individuals predisposed to multiple hereditary cancer syndromes	27
eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry	26
eP032: Measurement of Nicotinamide Adenine Dinucleotide (NAD+) from dried blood spot cards	26
eP001: Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait	26
eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia offers targeted therapeutic options to counteract neurotransmitter deficiency	26
eP344: Making the grade: How carrier screening panels score against the American College of Medical Genetics and Genomics “Tier 3” recommendations	26
eP106: BRSK2-related neurodevelopmental disorder: Novel pathogenic variant and review of literature	26
eP276: Development of an overdue outreach program to improve adherence to phenylketonuria management	26
eP047: Germline cancer predisposition variants in a cohort of early-onset Merkel cell carcinoma patients	26
eP056: Myelodysplastic syndrome/myeloproliferative neoplasm with highly complex intrachromosomal rearrangements resulting from multiple 5q15q32 deletions, 5’PDGFRβ deletion, pericentric inversion and	26
eP133: Genome sequencing and chromosomal microarray as a tool for evaluating phenotypic variability in individuals with X and Y chromosome variations	25
eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort	25
Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set	25
eP420: Clinical utility of a 38-gene NGS panel in diagnosing patients with hemolytic anemia: A retrospective review of 435 cases	25
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	25
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	25
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department	24
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure	24
Health care utilization and behavior changes after workplace genetic testing at a large US health care system	24
Evaluating the resource implications of different service delivery models for offering additional genomic findings	24
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19	24
Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT)	24
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study	24
Treatment of ARS deficiencies with specific amino acids	23
Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening	23
Performance of prenatal cfDNA screening for sex chromosomes	23
Clinical and genomic characterization of 8p cytogenomic disorders	23
DLG4-related synaptopathy: a new rare brain disorder	23
Expanding evidence leads to new pharmacogenomics payer coverage	23
Editorial Board	22
Health-literate care organizations for precision health	22
“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs	22
Breast cancer after ovarian cancer in BRCA1 and BRCA2 pathogenic variant heterozygotes: Lower rates for 5 years post chemotherapy	22
Masthead	22
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	22
Correspondence on “Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consorti	21
Table of Contents	21
Response to Righetti et al	21
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III	21
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)	21
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)	21
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	21
Editorial board	21
Words matter: The language of difference in human genetics	20
Table of Contents	20
Diversity in cancer genomics research is a matter of equity and scientific discovery	20
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study	20
Editorial Board	20
A clinical scoring system for early onset (neonatal) Marfan syndrome	20
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel	20
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2	20
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	20
Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing	20
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomic	20
Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al	20
In This Issue	20
Table of Contents	20
Table of Contents	20
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)	20
The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy	20
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders	19

Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals	19
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome	19
Desperately seeking solutions	19
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	19
Severity modeling of propionic acidemia using clinical and laboratory biomarkers	19
Editorial Board	19
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy	19
An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes	19
Evaluating breast cancer predisposition genes in women of African ancestry	19
The relationship between performance on the medical genetics and genomics in-training and certifying examinations	19
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease	19
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	19
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants	19
The 2019 US medical genetics workforce: a focus on clinical genetics	18
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	18
Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives	18
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome	18
Table of Contents	18
Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels	18
Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves	18
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy	18
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2	18
The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome	18
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review	18
Scoping review and classification of deep learning in medical genetics	18
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project	18
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	18
From genes to public health: are we ready for DNA-based population screening?	18
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy	18
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder	18
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder	18
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling	18
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	18
Table of Contents	17
Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology	17
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative	17
Damaging variants in FOXI3 cause microtia and craniofacial microsomia	17
Gene selection for genomic newborn screening: Moving toward consensus?	17
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes	17
A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias	17
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review	17
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease	17
A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome)	17
“Extremely slow and capricious”: A qualitative exploration of genetic researcher priorities in selecting shared data resources	17
The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood	17
The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: Evidence from Finland	17
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder	17
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	16
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children	16
Practical considerations for reinterpretation of individual genetic variants	16
Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings	16
Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al	16
Editorial Board	16
Trainee perspectives of COVID-19 impact on medical genetics education	16
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders	16
Response to Beretich and Beretich	16
Optimization of polygenic risk scores in BRCA1/2 pathogenic variant heterozygotes in epithelial ovarian cancer	16
Contemplating syndromic autism	16
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort	16
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy	16
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome	16
The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study	16
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations	16
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities	16
Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer	15
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines	15
OP018: ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings	15
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns	15
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)	15
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)	15
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	15
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use	15
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases	15
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders	15
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	15
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)	15
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	15
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis	15
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)	15
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants	15
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	15
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening	15
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11	15
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses	15
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)	15
Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases	15
Improved provider preparedness through an 8-part genetics and genomic education program	15
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	15
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature	15
Impact of integrating genomic data into the electronic health record on genetics care delivery	15
Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure	15
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures	14
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies	14
Table of Contents	14
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders	14