American Journal of Medical Genetics Part A

Article	Citations
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India	143
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder	87
The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion?	39
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease	36
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations	33
Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 18	28
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses	27
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome	27
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1	26
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In This Issue	25
Acute myeloid leukemia associated with CHARGE syndrome	24
Global health measures from a National Down Syndrome Registry	23
Table of Contents, Volume 194A, Number 6, June 2024	22
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C	22
Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest	20
Biallelic CACNA1A variants: Review of literature and report of a child with drug‐resistant epilepsy and developmental delay	20
Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis	19
Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature	19
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience	18
Publication schedule for 2022	18
Cover Image, Volume 188A, Number 7, July 2022	17
In This Issue	16
Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk	16
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice	16

Five siblings expand the spectrum of GPC6‐related skeletal dysplasia	16
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene	16
A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism	16
Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype	16
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants	16
Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis	15
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family	15
Wide Variability in Clinician Practices for Interpreting Genetic Test Results	15
Table of Contents, Volume 185A, Number 11, November 2021	15
Possible marfanoid habitus of Cesare Alessandro Scaglia di Verrua evidenced in portraits of Sir Anthony van Dyck?	15
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Cover Image, Volume 188A, Number 1, January 2022	14
Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation	14
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals	14
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias	14
Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania	14
Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam	14
Victor McKusick and his short course	14
Table of Contents, Volume 191A, Number 4, April 2023	13
California Continues to Support Stem Cell Research	13
X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy	13
Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111	13
A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease	13
Expansion of the ophthalmic phenotype of SPINT2‐related syndromic congenital sodium diarrhea	13
Neolithic Community Revealed Using Ancient DNA Data	13
Publication schedule for 2021	13
Glutamine Linked to Cell Senescence and Aging	12
The importance of patient‐specific resources for families dealing with prenatal rare diseases	12
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder	12
Cover Image, Volume 185A, Number 6, June 2021	12
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence	12
Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals	12
Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia	12
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report	12
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4	12
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome	11
Table of Contents, Volume 185A, Number 7, July 2021	11
Publication schedule for 2022	11
ACMG Issues Guidance on Protecting Genomic Data	11
Amniotic band syndrome and limb body wall complex in Europe 1980–2019	11
Further delineation of SET‐related intellectual disability syndrome	11
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children	11
A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities	11
Cover Image, Volume 185A, Number 12, December 2021	11
Publication schedule for 2021	11
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Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum	10
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review	10
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16	10
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum	10

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213	10
Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis	10
TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature	10
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	10
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother	10
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	10
Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature	10
In This Issue	10
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants	10
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	10
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder	9
Publication schedule for 2023	9
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder	9
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient	9
A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature	9
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome	9
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	9
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications	9
Cover Image, Volume 191A, Number 8, August 2023	9
Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands	9
All Grown up and No Place to go	9
Publication schedule for 2022	9
A lasting imprint	9
Live‐born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center	9
Reflections on a career in dysmorphology, teratology, and clinical genetics	9
Efficacy of virtual and asynchronous teaching of computer‐assisted diagnosis of genetic diseases seen in clinics	9
American College of Medical Genetics Issues Guidance on Polygenic Risk Scores	9
Predicting factors of neurodevelopmental performance in children with phenylketonuria	9
New Genetic Variants Underlying East Asian Facial Morphology	9
Publication schedule for 2023	9
Annular pancreas in two sisters: The story goes on	9
Pathogenic variant in the X‐linked ARR3 gene associated with variable early‐onset myopia	9
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Publication schedule for 2022	9
Autosomal dominant inheritance with sex‐limited infertility	9
In This Issue	8
A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2	8
Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017	8
In This Issue	8
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report	8
An exploratory study of plasma ceramides in comorbidities in Down syndrome	8
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy	8
Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1G328E variant	8
A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences	8
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review	8
Surveillance guidelines for children with trisomy 18	8
Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype	8
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome	8
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only	8
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature	8
Perspectives on the future of dysmorphology	8
Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis	8
Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature	8
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood	8
Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss	8
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D	8
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Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1	8
Medical genetics training in the COVID‐19 era: A resident's perspective	8
Next‐generation sequencing and the evolution of data sharing	8
Table of Contents, Volume 185A, Number 10, October 2021	8
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl	8
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22q11.2 duplications: Expanding the clinical presentation	8
Associated anomalies in Pierre Robin sequence	8
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations	8
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature	7
Living history biography: An afterthought	7
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome	7
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant	7
Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated	7
Patterns of co‐occurring birth defects in children with anotia and microtia	7
ECHS1 deficiency and its biochemical and clinical phenotype	7
Craniosynostosis is a feature of Costello syndrome	7
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	7
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	7
Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine	7
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population	7
Single‐center real‐life experience with testosterone treatment in adult men with Prader–Willi syndrome	7
In This Issue	7

Table of Contents, Volume 188A, Number 9, September 2022	7
Publication schedule for 2023	7
Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome	7
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	7
Sleep disturbance is a common feature of Kabuki syndrome	7
John M. Opitz Award Honorees	7
Growth reference charts for children with hypochondroplasia	7
Co‐occurring anomalies in congenital oral clefts	7
Detection of mosaic variants using genome sequencing in a large pediatric cohort	7
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage	7
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype	7
Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature	7
Further Evidence for a Possible Role for ZHFX4 in Human Ocular Development and Disease	7
Cover Image, Volume 185A, Number 3, March 2021	7
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome	7
Novel FGF9 variant contributes to multiple synostoses syndrome 3	7
Publication schedule for 2022	7
Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome	7
Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities	7
Demographics and medical comorbidities among hospitalized patients with Prader–Willi Syndrome: A National Inpatient Sample analysis	7
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	7
Survival outcomes of very low birth weight infants with trisomy 18	7
Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis	7
Bronchial angiofibroma in tuberous sclerosis complex: A case report and literature review	7
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development	7
Case report of mild TCIRG1‐associated autosomal recessive osteopetrosis in Vietnam	7
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome	7
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	7
New Autism Genes Identified in Largest Study to Date	7
Gene Editing has Potential as Treatment for Progeria	7
Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1	7
Parental age effects and Rett syndrome	7
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course	6
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalu	6
A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants	6
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15	6
Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome	6
X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant	6
MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability	6
First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha‐mannosidosis	6
De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay	6
The experiences and support needs of siblings of people with mucopolysaccharidosis	6
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia	6
Expansion of the clinical phenotype of GALE deficiency	6
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features	6
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment	6
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study	6
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region	6
The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty	6
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations	6
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature	6
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	6
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy	6
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental	6
The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents	6
A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly	6
PIEZO1‐gene gain‐of‐function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings	6
Generation and mutational analysis of a transgenic murine model of the human MAF mutation	6
Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48	6
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	6
Long‐term follow‐up of a patient with neonatal form of Gaucher disease	6
An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation	6
Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features	6
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21‐year‐old female with an intronic mutation in the elastin gene	6
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	6
Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency	6
Central 22q11.2 deletion (LCR22 B‐D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploi	6
Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings	6
Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants	6
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures	6
Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia	6
LYRM7‐associated mitochondrial complex III deficiency with non‐cavitating leukoencephalopathy and stroke‐like episodes	6
Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7	6
A PUS7 gene pathogenic variant causing self‐injurious behavior, sleep disturbances, and developmental delay: A case report	6
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex	6
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant	6
Table of Contents, Volume 197A, Number 1, January 2025	6
Novel mosaic TRAF7 likely pathogenic variant in an African American family	6
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene	6
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey	6
Toward precision medicine in vascular connective tissue disorders	6
LUMBAR syndrome–OEIS complex overlap: A case series and review	6
SCAF4‐related syndromic intellectual disability	6
From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients	6
TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy	6
Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants	6
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders	6
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria	6
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease	6
Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager	6
Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review	6
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish Euro	6
Assessing Postnatal Mortality in Smith–Lemli–Opitz Syndrome	5
Neurodevelopment in Young Children With Sex Chromosome Trisomies Diagnosed Before Birth: A Cluster Analysis Study	5
Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients	5