Genetics in Medicine

Article	Citations
Masthead	297
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	234
Editorial Board	199
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	164
Desperately seeking solutions	142
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	134
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	126
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	115
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	92
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	88
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	85
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	82
Editorial Board	81
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	75
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	75
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	70
Table of Contents	68
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	68
Table of Contents	65
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	64
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	62
Editorial Board	61
Scoping review and classification of deep learning in medical genetics	60
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	56
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	55

Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	55
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	55
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	55
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	54
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	54
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	52
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	51
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	49
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	48
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	45
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	45
The clinical geneticist workforce: Community forums to address challenges and opportunities	45
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	45
Masthead	43
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	43
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome	43
eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype	42
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	42
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	42
eP018: Late-onset congenital erythropoietic porphyria associated with myeloid malignancy	41
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	40
eP114: De novo prenatal diagnosis of X-linked Acromegaly Gigantism (X-LAG)	40
eP512: Identifying clinical and psychological factors associated with genomics-related outcomes in a centralized sequencing protocol	39
eP005: Complex glycerol kinase deficiency and X-linked intellectual disability	39
eP462: Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis	38
OP048: The impact of route of delivery on surgical morbidity in fetuses affected by achondroplasia: A multicenter retrospective study	37
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
eP509: Implementation and impact of dedicated inpatient genetic counselors in a children’s hospital	36
De novo variants are a common cause of genetic hearing loss	35
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	35
eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes	34
eP229: A case report of a complex chromosome 8 rearrangement with partial monosomy of 8p and partial trisomy of 8q	34
Editorial Board	34
eP354: A systematic approach for applying disease-specific phenotype in clinical variant interpretation	34
The splicing effect of variants at branchpoint elements in cancer genes	32
eP244: Rapid exome sequencing influences acute and long-term management of critically unwell children and their families	32
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing	31
eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome	31
Challenges for precision public health communication in the era of genomic medicine	30
“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	30
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder	30
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia	30
Genetics providers’ perspectives on the use of digital tools in clinical practice	30
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections	30
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	29
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis	29
Exploring Autistic adults’ perspectives on genetic testing for autism	29
Characterization of central manifestations in patients with Niemann-Pick disease type C	29
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	29

Documentation of results and medication prescribing after combinatorial psychiatric pharmacogenetic testing: A case for discrete results	28
Rethinking agency for genetic testing intention among Latinos: Determining predictors of intention for carrier screening and cancer predisposition testing	28
Response to Kiel and Kozaric	27
Masthead	27
Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al	27
Masthead	26
Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2	26
Response to Shen et al.	26
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder	26
Editorial Board	26
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations	25
eP249: Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients	25
eP342: Clinical testing of SHOX gene for SHOX deficiency disorders	25
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria	25
eP091: Improving cytogenetic testing utilization in a tertiary care NICU through quality improvement	25
OP012: Perceptions of breast and ovarian cancer risk and genetic testing among Non-Hispanic Black women	25
eP153: WASF2 variants contribute to heart failure phenotypes	25
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes	25
eP446: High rates of ‘atypical’ panorama noninvasive prenatal screening results among consanguineous Arab American women	25
eP198: EIF3F compound heterozygous genotype-phenotype association	25
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests	25
eP006: Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion	25
Response to Stern	25
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome	24
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders	24
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	24
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort	24
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants	24
Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study	24
eP082: Associated recessive retinitis pigmentosa caused by paternal uniparental disomy	24
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	24
The Parent PrU: A measure to assess personal utility of pediatric genomic results	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
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited	23
Correspondence on “Mainstreaming of clinical genetic testing: a conceptual framework” by Mackley et al	22
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants	22
Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias	22
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs	22
Non-neoplastic causes of death in neurofibromatosis 1: A cohort study with long-term follow-up	22
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders	22
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	22
COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis	22
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank	21
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum	21
eP384: Clinical, epidemiological and genetic characteristics of children diagnosed with Multisystem Inflammatory Syndrome (MIS-C) in Kuwait	21
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review	21
Risk of cancer in heterozygous relatives of patients with Fanconi anemia	21
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020	21
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes	20
Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives	20
eP128: A novel CSNK1E variant in a patient with autism spectrum disorder	20
Editorial Board	20
Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing	20
Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells	20
eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study	20
eP405: Clinical application of 24-hour ultra-rapid genome sequencing in a critically ill neonate	20
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients	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	20
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort	20
Validation of the International Breast Cancer Intervention Study (IBIS) model in the High Risk Ontario Breast Screening Program: A retrospective cohort study	20
eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies	19
eP040: Breast cancer patients categorized as high-risk of recurrence and/or basal-type molecular subtype by Agendia should universally undergo germline genetic testing	19
eP052: Coding defects in chromosomal segregation and protein targeting are central to TGCT predisposition	19
eP426: Utilization of the ACMG ACT sheets and algorithms on the ACMG website	19
eP391: Optical genome mapping for constitutional postnatal SV, CNV, and repeat array sizing: A multi-site clinical study	19
Correspondence on “The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare” by Vockley et al	19
OP019: A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families	19
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy	19
OP046: Stigma manifestations impact patient and clinical outcomes in cardiogenetic care: “Sometimes it’s depressing. Sometimes I feel like giving up.”	19
eP164: A case report of neurological manifestations and failure to thrive in neurobehavioural disease caused by a variant in RFX7	19
OP059: Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity	18
Pancreatic cancer risk to siblings of probands in bilineal cancer settings	18
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	18
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer	18
Focused Revision: Policy statement on folic acid and neural tube defects	18
Masthead	18
High-affinity FcγRIIIa genetic variants and potent NK cell-mediated antibody-dependent cellular cytotoxicity (ADCC) responses contributing to severe COVID-19	18
eP078: Phenotypes and genotypes in a cohort of children with single ventricle congenital heart disease	18
Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma	18

eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle	18
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta	18
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial	17
Table of Contents	17
Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia	17
The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning	17
The 2019 medical genetics workforce: A focus on laboratory geneticists	17
Table of Contents	17
Correspondence on “Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations” by Pantaleo et al	17
Masthead	17
Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening	17
Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations	17
Fraud in genetic testing: Swindling the system	17
Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure	17
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders	17
Impact of integrated translational research on clinical exome sequencing	16
eP383: Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes	16
eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity	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
eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation	16
eP473: Patient attitudes and preferences about expanded noninvasive prenatal screening	16
Editorial Board	16
eP272: Familial pathogenic variant causing osteogenesis imperfecta identified in the Puerto Rican population	16
eP248: Impact of DNA methylation signature exploration for variants of uncertain significance within epigenetic syndromes	16
eP041: How long will they wait? Applying updated NCCN criteria to previously unqualified patients reveals missed opportunities for personalized cancer management	16
eP376: NGS detection of NUDT15 6-bp insertion and UGT1A1 (TA) repeat polymorphism on a preventative genomics assay	16
Masthead	16
eP333: Tracking the emergence of SARS-CoV-2 variants of concern in vaccinated and unvaccinated patients	15
eP154: Predictive genomic medicine for thoracic aortic aneurysm and dissection	15
Response to Timothé Ménard	15
OP002: Secondary data analysis: Opportunities to advance genetic disease understanding and newborn screening research	15
eP429: Factors associated with the time to complete clinical exome sequencing in a pediatric patient population	15
Editorial Board	15
eP034: Novel use of global untargeted metabolomics in a patient with glycogen storage disease Ib receiving off label empagliflozin treatment	15
eP265: Higher rates of non-skeletal complications in achondroplasia compared to the general population: A UK matched cohort study using CPRD-GOLD database	15
OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders	15
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms	15
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile	14
Standardizing variation: Scaling up clinical genomics in Australia	14
A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders	14
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants	14
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications	14
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity	14
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II	14
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation	14
The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review	14
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4	14
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	14
Mainstreaming of clinical genetic testing: A conceptual framework	14
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases	14
Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic	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
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study	14
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders	14
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior	14
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance	13
Genetic Determinants of Sudden Unexpected Death in Pediatrics	13
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort	13
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer	13
eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort	13
OP011: Physician recommendations after germline sequencing in pediatric cancer patients: Texas KidsCanSeq study	13
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	13
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias	13
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome	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
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study	13
Reconciling diversity in health and genomic data collection with the regulation of AI in clinical genomics	13
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	13
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder	13
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	13
“All doctors should be trained in that”: The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disabili	13
eP341: The full (mutation) picture: One-third of patients with Fragile X syndrome present with neurodevelopmental disorders without dysmorphism or family history	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
eP020: Expanding the clinical spectrum of asparagine synthetase deficiency	12
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	12
Table of Contents	12
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population	12
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder	12
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory	12
eP125: Variants in obesity-related genes in a population with early-onset obesity	12
Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry	12
Table of Contents	12
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse	12
Genome sequencing as a first-line diagnostic test for hospitalized infants	12
Residual risk for additional recessive diseases in consanguineous couples	12
eP418: Enabling reclassification of missense variants in PKD1/2 – the power of a commercial laboratory database	12
eP201: A phase 2 clinical trial evaluating the safety and efficacy of delandistrogene moxeparvovec for treating patients with Duchenne muscular dystrophy	12
Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia	12
The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research	12
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover	12
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort	12
RARE-X: A Patient-Driven Approach for Collecting Symptom and Patient-Reported Outcome Data in Rare Diseases	12