American Journal of Medical Genetics Part A

Article	Citations
Nosology of genetic skeletal disorders: 2023 revision	75
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus	69
Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis	50
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome	35
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome	34
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19	33
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes	33
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis	32
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations	32
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature	28
Clan genomics: From OMIM phenotypic traits to genes and biology	27
Natural history of achondroplasia: A retrospective review of longitudinal clinical data	26
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants	25
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders	25
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing	24
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants	23
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)	22
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome	22
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review	22
The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning	21
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy	21
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome	20
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics	20
Variable clinical severity in TANGO2 deficiency: Case series and literature review	20
Headaches in hypermobility syndromes: A pain in the neck?	20

Use of complementary therapies for chronic pain management in patients with reported Ehlers‐Danlos syndrome or hypermobility spectrum disorders	20
Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort	20
Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study	19
Surveillance guidelines for children with trisomy 18	19
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene	18
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database	18
Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information	18
Rubinstein–Taybi syndrome in diverse populations	17
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome	17
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients	17
Novel genetic testing model: A collaboration between genetic counselors and nephrology	17
Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia	17
Clinical characteristics of individuals with Down syndrome deceased with CoVID‐19 in Italy—A case series	17
Physical therapy treatment of hypermobile Ehlers–Danlos syndrome: A systematic review	17
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures	16
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations	16
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome	16
Clinical spectrum in multiple families with primary COQ10 deficiency	16
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses	15
Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature	15
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy	15
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes	15
Immediate and 6‐week after effects of a rehabilitation program for Ehlers–Danlos syndrome hypermobile type patients: A retrospective study	15
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy	15
The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?	15
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome	14
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations	14
Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands	14
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature	14
The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndrome	14
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology	14
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature	14
Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures	14
Sertraline as a treatment option for temper outbursts in Prader–Willi syndrome	14
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum	14
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations	14
Specialty clinics for adults with Down syndrome: A clinic survey	13
The spectrum of brain malformations and disruptions in twins	13
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant	13
Genotype–phenotype correlation at codon 1740 of SETD2	13
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency	13
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature	13
Interdisciplinary care of children with trisomy 13 and 18	13
Functioning and well‐being in older children and adolescents with achondroplasia: A qualitative study	13
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency	13
Phenotypic features in MECP2 duplication syndrome: Effects of age	13
Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1	13
Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9	13
Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours	13
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy	13

Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review	13
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy	13
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3	13
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features	13
Age at and indication for diagnosis of Turner syndrome in the pediatric population	12
Obstructive sleep apnea in adults with Down syndrome	12
Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth	12
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B	12
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome	12
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1	12
SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition	12
Delayed diagnosis and racial bias in children with genetic conditions	12
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder	12
Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology	12
Magnitude of Mendelian versus complex inheritance of rare disorders	12
Whole genome sequencing of 45 Japanese patients with intellectual disability	12
Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review	12
A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18	12
Improving survival in patients with trisomy 18	12
Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature	11
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development	11
Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use	11
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	11
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome	11
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations	11
ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder	11
Clinical aspects of a large group of adults with Angelman syndrome	11
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study	11
Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms	11
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes	11
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet	11
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy	11
Shortfall of exome analysis for diagnosis of Shwachman‐Diamond syndrome: Mismapping due to the pseudogene SBDSP1	11
Quality of life in adults with achondroplasia in the United States	11
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients	11
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature	11
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines	11
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy	11
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report	11
Insufficient development of vessels and alveoli in lungs of infants with trisomy 18—Features of pulmonary histopathological findings from lung biopsy	10
22q11.2 duplications: Expanding the clinical presentation	10
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	10
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes	10
Impact of Costello syndrome on growth patterns	10
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses	10
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations	10
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile	10
An Indian child with Coats plus syndrome due to mutations in STN1	10
Functional analysis of novel genetic variants of NKX2‐5 associated with nonsyndromic congenital heart disease	10
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery	10
Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome	10
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges	10
EPHB4 mutation causes adult and adolescent‐onset primary lymphedema	10
Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient	10
Heterozygous variants in SPTBN1 cause intellectual disability and autism	10
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1‐congenital disorder of glycosylation) and response to l‐fucose therapy: Insights from two n	10
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis	10
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series	10
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study	10
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes	10
Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria	10
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?	10
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia	10
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder	10
Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain	10
Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome	10
Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report	9
Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1	9
Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants	9
Perspectives on the future of dysmorphology	9
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study	9
Confirming TBC1D32‐related ciliopathy in humans	9
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study	9
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study	9
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies	9
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis	9
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant	9
Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes	9
Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele	9
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance	9

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile	9
Parenting stress in families of children with Prader–Willi syndrome	9
Dual molecular diagnoses in a neurometabolic specialty clinic	9
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndrome	9
50 years of Robinow syndrome	9
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy	9
Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature	9
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23	9
Chromoanasynthesis as a cause of Jacobsen syndrome	9
Neuropsychiatric features of Prader–Willi syndrome	8
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome	8
Novel hemizygous loss‐of‐function variant in NONO identified in a South African boy	8
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case	8
An additional case of Néstor‐Guillermo progeria syndrome diagnosed in early childhood	8
Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review	8
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome	8
Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum	8
Neurological phenotype of Potocki–Lupski syndrome	8
Expansion of the clinical phenotype of GALE deficiency	8
Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy	8
Neonatal complications of Down syndrome and factors necessitating intensive care	8
Parental mosaicism in de novo neurodevelopmental diseases	8
Outcome of 45,X fetuses with cystic hygroma: A systematic review	8
Physical fitness and activity level in Norwegian adults with achondroplasia	8
Updated consensus guidelines on the management of Phelan–McDermid syndrome	8
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder	8
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	8
Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull	8
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families	8
PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review	8
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	8
Parenting a child with Marfan syndrome: Distress and everyday problems	8
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans	8
Ophthalmological abnormalities in Down syndrome among Brazilian patients	8
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype	8
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans	8
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis	8
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia	8
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways	8
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles	8
Parental perceptions of genetic testing for children with autism spectrum disorders	8
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome	8
Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review	8
Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population	8
Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review	8
Detection of mosaic variants using genome sequencing in a large pediatric cohort	8
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes	8
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213	8
Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome	8
Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome	8
Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program	8
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms	8
Variants in NAA15 cause pediatric hypertrophic cardiomyopathy	8
Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients	8
Clinical spectrum of individuals with de novo EBF3 variants or deletions	7
Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders	7
Extremity anomalies associated with Robinow syndrome	7
X‐Linked intellectual disability update 2022	7
Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis	7
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy	7
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype	7
Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome	7
MYH7 variants cause complex congenital heart disease	7
Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children	7
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported	7
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)	7
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi	7
The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum	7
CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum	7
Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals	7
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)	7
Craniofacial phenotypes associated with Robinow syndrome	7
Fifty years of recognizable patterns of human malformation: Insights and opportunities	7
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population	7
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 var	7
Sleep and behavior in children and adolescents with tuberous sclerosis complex	7
Further delineation of HIDEA syndrome	7
Cardiac evaluation of patients with 22q11.2 duplication syndrome	7
Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family	7
Can artificial intelligence save medical genetics?	7
Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax	7
Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome	7
Health care transition for individuals with Down syndrome: A needs assessment	7
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl	7
Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome	7
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman	7
Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey	7
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey	7
Expansion of NEUROD2 phenotypes to include developmental delay without seizures	7
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant	7
Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies	7
Surveillance guidelines for children with trisomy 13	7
The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report	7
Diffuse infantile hepatic hemangiomas in a patient with Beckwith–Wiedemann syndrome: A new association?	7
Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan	7