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	181
Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder	94
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease	42
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations	40
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses	33
Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 18	33
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome	31
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1	28
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In This Issue	26
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C	25
Acute myeloid leukemia associated with CHARGE syndrome	25
Table of Contents, Volume 194A, Number 6, June 2024	25
Global health measures from a National Down Syndrome Registry	25
Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest	25
Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature	22
Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses	22
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	21
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	20
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	18
Table of Contents, Volume 197A, Number 4, April 2025	17
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome	17
Publication schedule for 2022	17
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

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants	16
Five siblings expand the spectrum of GPC6‐related skeletal dysplasia	16
Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype	16
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
Cover Image, Volume 188A, Number 7, July 2022	16
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience	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
Possible marfanoid habitus of Cesare Alessandro Scaglia di Verrua evidenced in portraits of Sir Anthony van Dyck?	15
Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation	14
Victor McKusick and his short course	14
Cover Image, Volume 188A, Number 1, January 2022	14
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals	14
Table of Contents, Volume 185A, Number 11, November 2021	14
Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam	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	13
Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111	13
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium‐Dependent Multivitamin Transporter Deficiency	13
Glutamine Linked to Cell Senescence and Aging	13
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KLK11‐Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review	13
Neolithic Community Revealed Using Ancient DNA Data	13
A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome	13
Table of Contents, Volume 191A, Number 4, April 2023	13
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	13
Publication schedule for 2021	13
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome	12
Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia	12
ACMG Issues Guidance on Protecting Genomic Data	12
Amniotic band syndrome and limb body wall complex in Europe 1980–2019	12
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4	12
The importance of patient‐specific resources for families dealing with prenatal rare diseases	12
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children	12
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder	12
Cover Image, Volume 185A, Number 6, June 2021	12
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report	12
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 2022	11
Table of Contents, Volume 185A, Number 7, July 2021	11
Further delineation of SET‐related intellectual disability syndrome	11
Publication schedule for 2021	11
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	11
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TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature	10
Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature	10
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	10

Publication schedule for 2022	10
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	10
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
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	10
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry	10
New Genetic Variants Underlying East Asian Facial Morphology	10
In This Issue	10
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213	10
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants	10
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder	10
Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome	10
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother	10
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient	9
American College of Medical Genetics Issues Guidance on Polygenic Risk Scores	9
Autosomal dominant inheritance with sex‐limited infertility	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
Publication schedule for 2022	9
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A lasting imprint	9
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications	9
Publication schedule for 2023	9
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder	9
All Grown up and No Place to go	9
Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands	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
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	9
Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia	9
Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review	9
Cover Image, Volume 191A, Number 8, August 2023	9
Predicting factors of neurodevelopmental performance in children with phenylketonuria	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
Efficacy of virtual and asynchronous teaching of computer‐assisted diagnosis of genetic diseases seen in clinics	9
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome	9
Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature	8
A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences	8
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First implication of MIP in bilateral microphthalmia with persistent fetal vasculature	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
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome	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	8
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22q11.2 duplications: Expanding the clinical presentation	8
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl	8
Perspectives on the future of dysmorphology	8
In This Issue	8
A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2	8
Medical genetics training in the COVID‐19 era: A resident's perspective	8
Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis	8
The experiences and support needs of siblings of people with mucopolysaccharidosis	8
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review	8
Publication schedule for 2023	8
Publication schedule for 2022	8
Associated anomalies in Pierre Robin sequence	8
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy	8
Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1	8
Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype	8
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only	8
Next‐generation sequencing and the evolution of data sharing	8
Table of Contents, Volume 185A, Number 10, October 2021	8
Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1G328E variant	8
Single‐center real‐life experience with testosterone treatment in adult men with Prader–Willi syndrome	8
Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome	8
Survival outcomes of very low birth weight infants with trisomy 18	7
John M. Opitz Award Honorees	7
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	7
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	7
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome	7
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage	7
Parental age effects and Rett syndrome	7
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice	7
High number of candidate gene variants are identified as disease‐causing in a period of 4 years	7
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	7
LYRM7‐associated mitochondrial complex III deficiency with non‐cavitating leukoencephalopathy and stroke‐like episodes	7
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant	7
Novel mosaic TRAF7 likely pathogenic variant in an African American family	7

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development	7
Toward precision medicine in vascular connective tissue disorders	7
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok–Campeau Syndrome	7
Patterns of co‐occurring birth defects in children with anotia and microtia	7
Case report of mild TCIRG1‐associated autosomal recessive osteopetrosis in Vietnam	7
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	7
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome	7
Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1	7
Detection of mosaic variants using genome sequencing in a large pediatric cohort	7
Growth reference charts for children with hypochondroplasia	7
Co‐occurring anomalies in congenital oral clefts	7
BRPF1‐associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development	7
Novel FGF9 variant contributes to multiple synostoses syndrome 3	7
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	7
ECHS1 deficiency and its biochemical and clinical phenotype	7
A PUS7 gene pathogenic variant causing self‐injurious behavior, sleep disturbances, and developmental delay: A case report	7
CTNND1‐Related Disorder: New Insight on Prenatal Phenotype	7
Generation and mutational analysis of a transgenic murine model of the human MAF mutation	7
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series	7
Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated	7
Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature	7
Sleep disturbance is a common feature of Kabuki syndrome	7
New Autism Genes Identified in Largest Study to Date	7
Table of Contents, Volume 188A, Number 9, September 2022	7
Craniosynostosis is a feature of Costello syndrome	7
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	7
Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss	7
Bronchial angiofibroma in tuberous sclerosis complex: A case report and literature review	7
Demographics and medical comorbidities among hospitalized patients with Prader–Willi Syndrome: A National Inpatient Sample analysis	7
Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome	7
Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine	7
Long‐term follow‐up of a patient with neonatal form of Gaucher disease	7
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	7
Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease	7
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects	6
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin	6
Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager	6
Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation	6
Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings	6
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish Euro	6
Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency	6
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study	6
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	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
Expansion of the clinical phenotype of GALE deficiency	6
A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1	6
X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant	6
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda	6
Further characterization of ARSK‐related mucopolysaccharidosis type 10	6
MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability	6
Similarity of aortic events between siblings with heritable thoracic aortic diseases: Clinical analysis focusing on identical twins and same‐sex siblings	6
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	6
Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement	6
Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report	6
Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7	6
First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature	6
Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants	6
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations	6
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region	6
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex	6
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment	6
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome	6
LUMBAR syndrome–OEIS complex overlap: A case series and review	6
Table of Contents, Volume 197A, Number 1, January 2025	6
PIEZO1‐gene gain‐of‐function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings	6
From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients	6
Gene Therapy Delivery Vector Crosses the Blood‐Brain Barrier	6
A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants	6
Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy	6
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly	6
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia	6
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a	6
Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48	6
A genome‐wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study	6
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy	6
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature	6
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease	6
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease	6
The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty	6
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders	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
An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation	6
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria	6
Expanding the KIF4A‐associated phenotype	6
TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy	6
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype	6
Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants	6
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	6
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene	6
Table of Contents, Volume 194A, Number 8, August 2024	6
Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003–2022	6
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey	6
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skel	6
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures	6
First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha‐mannosidosis	5