American Journal of Medical Genetics Part A

Article	Citations
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	192
Cover Image, Volume 191A, Number 8, August 2023	99
Table of Contents, Volume 185A, Number 10, October 2021	42
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	40
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures	35
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders	33
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report	31
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	31
	27
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	27
Autosomal dominant inheritance with sex‐limited infertility	27
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	27
Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1G328E variant	27
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	26
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy	26
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	25
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias	22
Table of Contents, Volume 185A, Number 11, November 2021	22
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	22
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	22
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?	20
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	19
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	18
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant	18
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341	18

Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	17
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	17
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes	17
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	17
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	16
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	16
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	16
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations	16
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	16
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	16
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses	16
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	15
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	15
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	15
Co‐occurring anomalies in congenital oral clefts	15
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	15
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy	14
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome	14
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	14
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	14
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D	14
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome	14
An exploratory study of plasma ceramides in comorbidities in Down syndrome	14
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15	14
ECHS1 deficiency and its biochemical and clinical phenotype	14
In Memoriam: Vazken M. Der Kaloustian	14
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder	13
Cover Image, Volume 191A, Number 6, June 2023	13
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome	13
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	13
Delayed diagnosis and racial bias in children with genetic conditions	13
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4	13
Germline RTEL1 Variants in Telomere Biology Disorders	13
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	13
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	13
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	12
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia	12
Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review	12
Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18	12
	12
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis	12
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	12
Publication schedule for 2022	12
ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features	12
The Willingness to Participate in Genetic Studies may be Genetic	12
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	12
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	12
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	11
3q29 duplications: A cohort of 46 patients and a literature review	11
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations	11

Musculoskeletal phenotypes in 3q29 deletion syndrome	11
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	11
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum	11
Exploring the Low Uptake of Gene Therapy in Hemophilia	11
Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities	11
Correction to “Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report”	11
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	11
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies	11
In This Issue	11
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	11
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case	11
Table of Contents, Volume 194A, Number 7, July 2024	11
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case	11
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	11
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	10
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics	10
Ophthalmic manifestations of Czech dysplasia	10
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models	10
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant	10
A novel variant of ARPC4‐related neurodevelopmental disorder	10
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome	10
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy	10
In This Issue	10
Cover Image, Volume 188A, Number 9, September 2022	10
Genome‐Wide Cell‐Free DNA Screening Tests Go Beyond Scope of Traditional cfDNA Assays	10
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	10
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	10
Near complete deletion of KMT2D in a college student	10
Multi‐locus pathogenic variation identified in a patient with craniosynostosis	10
In This Issue	10
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	10
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings	9
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis	9
Detecting pathogenic deep intronic variants in Gitelman syndrome	9
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	9
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	9
A monoallelicSEC23AvariantE599Kassociated withcranio‐lenticulo‐suturaldysplasia	9
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	9
Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features	9
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome	9
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	9
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	9
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	9
Delivering a new diagnosis of Down syndrome: Parent experience	9
	9
Adapting a quality of life scale for children and young people with Down syndrome in Chile	9
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	9
Viewing VictorMcKusick's legacy through the lens of his bibliography	9
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	9
Hepatoblastoma in molecularly defined, congenital diseases	9
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	9
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	9
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	8
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature	8
In This Issue	8
In Loving Memory of Mary Kaye Richter (1945–2022)	8
Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man	8
PRKAG2‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review	8
Corrigendum Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Am J Med Genet A. 2021;185A(6):1649–1665. Doi:10.1002/ajmg.a.621	8
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles	8
The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned	8
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	8
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	8
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	8
In This Issue	8
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	8
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements	8
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers	8
Table of Contents, Volume 191A, Number 6, June 2023	8
Table of Contents, Volume 185A, Number 8, August 2021	8
Long‐Read Sequencing Could Increase Diagnosis Rates	8
Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder	8
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	8
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	8
Rare diseases of ectoderm: Translating discovery to therapy	8
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia	8
In Memoriam: Norio Niikawa, MD, PHD (1942–2022)	8
Katherine M. Hyland, PhD	8
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	8
Adherence to adult clinical practice guidelines for Down syndrome	8

	8
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	8
Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI	8
In Memoriam: “Holstein cows in Holstein.” Victor A. McKusick: 40 years of remembrance from Europe	8
X‐linked genetic associations in sporadic thoracic aortic dissection	8
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	8
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Dis	8
	8
A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly	8
Table of Contents, Volume 194A, Number 1, January 2024	8
Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation	8
Novel NALCN variant linked to temporal lobe epilepsy	8
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	8
The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort	8
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition	8
Neuropsychiatric features of Prader–Willi syndrome	8
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spe	8
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
Conference Attendees Give Thumbs up to Virtual Meetings	7
Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion	7
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	7
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases	7
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	7
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet	7
Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning	7
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	7
Table of Contents, Volume 194A, Number 10, October 2024	7
	7
Table of Contents, Volume 188A, Number 1, January 2022	7
	7
Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2	7
Rule Expansion Further Regulates Laboratory Developed Tests	7
	7
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	7
A unique cardiovascular presentation of Marfan syndrome	7
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes	7
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	7
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees	7
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County	7
Death rates in the U.S. due to Leukodystrophies with pediatric forms	7
Mislocalization is a Common Consequence of Coding Variation	7
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect	7
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network	7
A 22q13.1 duplication in mosaicism including SOX10	7
Digital vascular lesions detected by transillumination	7
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction	7
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	7
In This Issue	7
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	7
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease	7
Inpatient Hospitalizations for COVID‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis	7
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	7
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome	7
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	7
Brain cell signaling abnormalities are detected in blood in a murine model of Fragile X syndrome and corrected by Sigma‐1 receptor agonist Blarcamesine	7
SATB2‐associated syndrome in adolescents and adults	7
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	7
Table of Contents, Volume 185A, Number 6, June 2021	7
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene	7
Table of Contents, Volume 185A, Number 12, December 2021	7
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	7
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation	6
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing	6
Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and diseas	6
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling	6
Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X‐linked retinoschisis from North India	6
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants	6
Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review	6
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia	6
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology	6
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features	6
Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome	6
Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test	6
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?	6
CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia	6
Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum	6
Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability	6
First reported cases with Xia‐Gibbs syndrome from India harboring novel variants in AHDC1	6
Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG”	6
An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations	6
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views	6
Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5	6
	6
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related	6
De Novo Variants in LRRC8C Linked to Rare Disorder	6
Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome	6
In This Issue	6
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	6
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay	6
Family perspectives on gaps in health care for people with Down syndrome	6
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes	6
A pilot study of home‐based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia	6