Genetics in Medicine

Article	Citations
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	431
Masthead	281
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	228
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	188
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	158
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	138
Editorial Board	129
Scoping review and classification of deep learning in medical genetics	120
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	111
The clinical geneticist workforce: Community forums to address challenges and opportunities	88
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	86
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	84
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	81
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	77
Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals	73
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency	70
Editorial Board	69
eP234: SERPINA1 sequencing facilitates detection of undiagnosed Alpha-1 antitrypsin deficiency	68
Desperately seeking solutions	67
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	67
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?	66
eP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia	64
eP256: Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature	64
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	59
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	57

eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies	57
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration	55
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome	54
eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype	54
Editorial Board	54
OP037: Assessing the impact of expanded ACMG secondary findings recommendations on population genomic screening in the Geisinger MyCode Community Health Initiative	53
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors	52
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	51
Table of Contents	51
eP498: Detection of congenital cytomegalovirus infection on high-risk newborn population	51
Table of Contents	49
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)	48
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	48
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	48
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	44
Characterization of central manifestations in patients with Niemann-Pick disease type C	44
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	44
Masthead	44
eP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype	43
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections	42
eP018: Late-onset congenital erythropoietic porphyria associated with myeloid malignancy	41
eP114: De novo prenatal diagnosis of X-linked Acromegaly Gigantism (X-LAG)	40
eP005: Complex glycerol kinase deficiency and X-linked intellectual disability	39
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	39
eP512: Identifying clinical and psychological factors associated with genomics-related outcomes in a centralized sequencing protocol	39
OP048: The impact of route of delivery on surgical morbidity in fetuses affected by achondroplasia: A multicenter retrospective study	38
eP088: Diagnosing a patient with progressive myoclonic epilepsy-12 with variants of uncertain significance on exome sequencing	38
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	38
eP462: Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis	38
eP270: Incorporating genetic services into adult kidney disease care	38
eP509: Implementation and impact of dedicated inpatient genetic counselors in a children’s hospital	37
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	36
eP229: A case report of a complex chromosome 8 rearrangement with partial monosomy of 8p and partial trisomy of 8q	35
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis	35
Editorial Board	35
De novo variants are a common cause of genetic hearing loss	35
eP354: A systematic approach for applying disease-specific phenotype in clinical variant interpretation	34
eP244: Rapid exome sequencing influences acute and long-term management of critically unwell children and their families	34
eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes	34
The splicing effect of variants at branchpoint elements in cancer genes	34
eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome	33
Challenges for precision public health communication in the era of genomic medicine	32
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing	32
Exploring Autistic adults’ perspectives on genetic testing for autism	31
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome	31
Genetics providers’ perspectives on the use of digital tools in clinical practice	31
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder	31
“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	30
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	30
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	30

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia	30
Rethinking agency for genetic testing intention among Latinos: Determining predictors of intention for carrier screening and cancer predisposition testing	29
Documentation of results and medication prescribing after combinatorial psychiatric pharmacogenetic testing: A case for discrete results	29
Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al	29
Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias	29
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants	28
Response to Kiel and Kozaric	28
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders	28
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs	28
Editorial Board	28
Response to Shen et al.	27
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants	27
Masthead	27
eP153: WASF2 variants contribute to heart failure phenotypes	26
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests	26
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review	26
eP249: Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients	25
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria	25
eP082: Associated recessive retinitis pigmentosa caused by paternal uniparental disomy	25
eP198: EIF3F compound heterozygous genotype-phenotype association	25
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes	25
Response to Stern	25
eP006: Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion	25
eP342: Clinical testing of SHOX gene for SHOX deficiency disorders	25
eP091: Improving cytogenetic testing utilization in a tertiary care NICU through quality improvement	25
eP446: High rates of ‘atypical’ panorama noninvasive prenatal screening results among consanguineous Arab American women	25
Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2	24
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations	24
Correspondence on “Mainstreaming of clinical genetic testing: a conceptual framework” by Mackley et al	24
OP012: Perceptions of breast and ovarian cancer risk and genetic testing among Non-Hispanic Black women	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
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study	24
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome	24
The Parent PrU: A measure to assess personal utility of pediatric genomic results	24
Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study	24
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020	24
Risk of cancer in heterozygous relatives of patients with Fanconi anemia	23
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics	23
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders	23
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum	23
COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis	23
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort	23
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited	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	22
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	22
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial	22
Masthead	22
eP384: Clinical, epidemiological and genetic characteristics of children diagnosed with Multisystem Inflammatory Syndrome (MIS-C) in Kuwait	22
Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells	22
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder	22
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	22
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank	22
eP128: A novel CSNK1E variant in a patient with autism spectrum disorder	21
eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study	21
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes	21
Editorial Board	21
eP405: Clinical application of 24-hour ultra-rapid genome sequencing in a critically ill neonate	21
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort	21
eP040: Breast cancer patients categorized as high-risk of recurrence and/or basal-type molecular subtype by Agendia should universally undergo germline genetic testing	20
OP046: Stigma manifestations impact patient and clinical outcomes in cardiogenetic care: “Sometimes it’s depressing. Sometimes I feel like giving up.”	20
eP164: A case report of neurological manifestations and failure to thrive in neurobehavioural disease caused by a variant in RFX7	20
eP426: Utilization of the ACMG ACT sheets and algorithms on the ACMG website	20
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
OP019: A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families	20
eP052: Coding defects in chromosomal segregation and protein targeting are central to TGCT predisposition	20
eP391: Optical genome mapping for constitutional postnatal SV, CNV, and repeat array sizing: A multi-site clinical study	20
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families	20
eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies	20
The 2019 medical genetics workforce: A focus on laboratory geneticists	19
OP059: Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity	19
Pancreatic cancer risk to siblings of probands in bilineal cancer settings	19
Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives	19
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy	19
Focused Revision: Policy statement on folic acid and neural tube defects	19
Masthead	19
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies	19
eP078: Phenotypes and genotypes in a cohort of children with single ventricle congenital heart disease	19
Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma	19
eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle	19

Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing	19
Table of Contents	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
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity	18
Correspondence on “Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations” by Pantaleo et al	18
High-affinity FcγRIIIa genetic variants and potent NK cell-mediated antibody-dependent cellular cytotoxicity (ADCC) responses contributing to severe COVID-19	18
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients	18
Fraud in genetic testing: Swindling the system	18
Table of Contents	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
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta	18
Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks	18
Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure	17
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation	17
Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia	17
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders	17
Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic	17
eP041: How long will they wait? Applying updated NCCN criteria to previously unqualified patients reveals missed opportunities for personalized cancer management	16
eP473: Patient attitudes and preferences about expanded noninvasive prenatal screening	16
Impact of integrated translational research on clinical exome sequencing	16
Editorial Board	16
The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review	16
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders	16
eP421: Development of an in-house whole transcriptome test for evaluation of splicing VUS variants: Experience and challenges in variant interpretation	16
eP376: NGS detection of NUDT15 6-bp insertion and UGT1A1 (TA) repeat polymorphism on a preventative genomics assay	16
Masthead	16
eP383: Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes	16
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	16
Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening	16
eP248: Impact of DNA methylation signature exploration for variants of uncertain significance within epigenetic syndromes	16
Standardizing variation: Scaling up clinical genomics in Australia	16
eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity	16
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias	16
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	16
eP055: The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group	15
eP272: Familial pathogenic variant causing osteogenesis imperfecta identified in the Puerto Rican population	15
A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders	15
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants	15
Genetic Determinants of Sudden Unexpected Death in Pediatrics	15
eP038: A new biochemical assay to measure plasmalogens with CLIR disease differentiation	15
OP002: Secondary data analysis: Opportunities to advance genetic disease understanding and newborn screening research	15
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile	15
eP333: Tracking the emergence of SARS-CoV-2 variants of concern in vaccinated and unvaccinated patients	15
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications	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
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome	15
eP429: Factors associated with the time to complete clinical exome sequencing in a pediatric patient population	15
Editorial Board	14
Mainstreaming of clinical genetic testing: A conceptual framework	14
The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning	14
Masthead	14
Response to Timothé Ménard	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
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II	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
OP016: Mini-COMET: Safety and efficacy of ≥97 weeks’ avalglucosidase alfa in infantile-onset Pompe disease participants previously treated with alglucosidase alfa	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	14
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms	14
OP040: Clinical validation of tagmentation-based genome sequencing for germline disorders	14
eP154: Predictive genomic medicine for thoracic aortic aneurysm and dissection	14
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4	14
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases	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
“Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing	14
eP034: Novel use of global untargeted metabolomics in a patient with glycogen storage disease Ib receiving off label empagliflozin treatment	14
How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey	13
Reconciling diversity in health and genomic data collection with the regulation of AI in clinical genomics	13
eP332: The importance of parental sequencing depth in the setting of rapid genome sequencing	13
eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort	13
Residual risk for additional recessive diseases in consanguineous couples	13
eP341: The full (mutation) picture: One-third of patients with Fragile X syndrome present with neurodevelopmental disorders without dysmorphism or family history	13
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer	13
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder	13
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome	13
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder	13
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study	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
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort	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
In This Issue	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
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse	13
Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer	12
Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia	12
Genome sequencing as a first-line diagnostic test for hospitalized infants	12
Masthead	12
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2	12
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population	12
Editorial Board	12
Breast cancer after ovarian cancer in BRCA1 and BRCA2 pathogenic variant heterozygotes: Lower rates for 5 years post chemotherapy	12
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory	12
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort	12