American Journal of Medical Genetics Part A

Article	Citations
Nosology of genetic skeletal disorders: 2023 revision	110
Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus	82
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome	39
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations	36
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes	33
Clan genomics: From OMIM phenotypic traits to genes and biology	28
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants	27
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review	27
Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort	26
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
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics	24
Variable clinical severity in TANGO2 deficiency: Case series and literature review	24
Surveillance guidelines for children with trisomy 18	23
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database	22
The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning	22
Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information	20
Physical therapy treatment of hypermobile Ehlers–Danlos syndrome: A systematic review	20
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene	20
Clinical spectrum in multiple families with primary COQ10 deficiency	19
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy	19
Novel genetic testing model: A collaboration between genetic counselors and nephrology	18
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant	18
Delayed diagnosis and racial bias in children with genetic conditions	18
Quality of life in adults with achondroplasia in the United States	17
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome	17

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures	17
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy	16
Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature	16
Sertraline as a treatment option for temper outbursts in Prader–Willi syndrome	16
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology	16
Age at and indication for diagnosis of Turner syndrome in the pediatric population	16
Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures	16
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes	16
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms	16
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	16
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy	16
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy	15
Updated consensus guidelines on the management of Phelan–McDermid syndrome	15
Interdisciplinary care of children with trisomy 13 and 18	15
The spectrum of brain malformations and disruptions in twins	15
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature	15
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature	15
Specialty clinics for adults with Down syndrome: A clinic survey	15
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations	15
Functioning and well‐being in older children and adolescents with achondroplasia: A qualitative study	15
Phenotypic features in MECP2 duplication syndrome: Effects of age	15
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses	15
Improving survival in patients with trisomy 18	15
Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature	14
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature	14
Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review	14
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3	14
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder	14
Whole genome sequencing of 45 Japanese patients with intellectual disability	14
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features	14
SRD5A3‐CDG:3Dstructure modeling, clinical spectrum, andcomputer‐baseddysmorphic facial recognition	14
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case	14
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	14
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development	13
Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology	13
Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1	13
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis	13
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature	13
Perspectives on the future of dysmorphology	13
Magnitude of Mendelian versus complex inheritance of rare disorders	13
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	13
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report	13
Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth	12
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations	12
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study	12
Heterozygous variants in SPTBN1 cause intellectual disability and autism	12
Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome	12
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy	12
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes	12
Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use	12

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes	12
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes	12
22q11.2 duplications: Expanding the clinical presentation	12
EPHB4 mutation causes adult and adolescent‐onset primary lymphedema	12
A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18	12
Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms	11
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations	11
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series	11
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy	11
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges	11
Parental perceptions of genetic testing for children with autism spectrum disorders	11
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	11
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet	11
Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria	11
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines	11
Functional analysis of novel genetic variants of NKX2‐5 associated with nonsyndromic congenital heart disease	11
Insufficient development of vessels and alveoli in lungs of infants with trisomy 18—Features of pulmonary histopathological findings from lung biopsy	11
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study	11
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia	10
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study	10
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies	10
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	10
History of the methodology of disease gene identification	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
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23	10
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile	10
Physical fitness and activity level in Norwegian adults with achondroplasia	10
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery	10
Expansion of the genotypic and phenotypic spectrum of CTCF‐related disorder guides clinical management: 43 new subjects and a comprehensive literature review	10
Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy	10
Expansion of NEUROD2 phenotypes to include developmental delay without seizures	10
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study	10
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis	10
Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review	10
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans	10
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses	10
Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study	9
CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum	9
X‐Linked intellectual disability update 2022	9
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)	9
Neuropsychiatric features of Prader–Willi syndrome	9
Clinical spectrum of individuals with de novo EBF3 variants or deletions	9
Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants	9
Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review	9
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature	9
Congenital heart defects in molecularly confirmed KBG syndrome patients	9
Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome	9
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance	9
Clinical characterization of individuals with the distal 1q21.1 microdeletion	9
A multicenter study to evaluate pain characteristics in osteogenesis imperfecta	9
Dual molecular diagnoses in a neurometabolic specialty clinic	9
Novel hemizygous loss‐of‐function variant in NONO identified in a South African boy	9
Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome	9
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype	9
Tuberous sclerosis complex‐associated nonfunctional pancreatic neuroendocrine tumors: Management and surgical outcomes	9
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study	9
Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5	9
Parental mosaicism in de novo neurodevelopmental diseases	9
Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways	9
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported	9
Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1	9
The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice	9
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features	9
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213	9
Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature	9
Cardiac evaluation of patients with 22q11.2 duplication syndrome	8
Risk of sudden cardiac death in EXOSC5‐related disease	8
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study	8
Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross‐sectional survey in Japan	8
Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas	8
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome	8
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature	8
ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders	8
Expansion of the clinical phenotype of GALE deficiency	8
An automatic facial landmarking for children with rare diseases	8
Craniofacial phenotypes associated with Robinow syndrome	8
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics	8
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl	8
Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong	8
LMOD2‐related dilated cardiomyopathy presenting in late infancy	8

Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature	8
Can artificial intelligence save medical genetics?	8
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder	8
Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan	8
Expanding on the phenotypic spectrum ofWoodhouse‐Sakatisyndrome due to founder pathogenic variant inDCAF17: Report of 58 additional patients from Qatar and literature revi	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
Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review	8
A pilot clinical trial with losartan in Myhre syndrome	8
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review	8
Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants	8
Detection of mosaic variants using genome sequencing in a large pediatric cohort	8
Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey	8
Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population	8
Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway	8
Postoperative helmet therapy following fronto‐orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis	8
Surveillance guidelines for children with trisomy 13	8
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles	8
Stargardt misdiagnosis: How ocular genetics helps	8
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome	8
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods	8
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype	8
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease	8
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans	8
Health care transition for individuals with Down syndrome: A needs assessment	8
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey	8
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy	8
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development	8
Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum	8
The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study	8
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)	8
Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax	7
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM‐associated syndromes	7
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome	7
Congenital heart defects and copy number variants associated with neurodevelopmental impairment	7
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder	7
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019	7
Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations	7
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder	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
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility	7
Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young children	7
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy	7
The rate of secondary genomic findings in the Saudi population	7
MYH7 variants cause complex congenital heart disease	7
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability	7
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing	7
The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum	7
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes	7
BRPF1‐associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development	7
Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant	7
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome	7
Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders	7
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman	7
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach	7
Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome	7
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome	7
Hepatoblastoma in molecularly defined, congenital diseases	7
A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?	7
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency	7
Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families	7
Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deleti	7
Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms	7
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures	7
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum	7
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes	7
Personal utility of genomic sequencing for infants with congenital deafness	7
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network	7
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population	7
Patient‐reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta	7
Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals	7
Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome	7
Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)	7
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype	7
L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial	7
Sleep and behavior in children and adolescents with tuberous sclerosis complex	7
Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases	7
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients	7
Deformations associated with arthrogryposis	7
The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report	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 novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome	7
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature	6
Expanding the KIF4A‐associated phenotype	6
AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination	6
Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature	6
The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion?	6
The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?	6
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region	6
The experiences and support needs of siblings of people with mucopolysaccharidosis	6
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin	6
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India	6
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry	6
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment	6
A rare cause of syndromic short stature: 3M syndrome in three families	6
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum	6