American Journal of Medical Genetics Part A

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	229
Table of Contents, Volume 185A, Number 10, October 2021	45
Table of Contents, Volume 185A, Number 11, November 2021	37
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?	36
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341	33
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	30
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene	29
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	29
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5	27
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	26
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders	26
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias	23
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D	23
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	23
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	20
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	19
An exploratory study of plasma ceramides in comorbidities in Down syndrome	19
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	19
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	19
Co‐occurring anomalies in congenital oral clefts	18
Autosomal dominant inheritance with sex‐limited infertility	18
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome	17
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	16
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	16
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	16

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	16
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	16
ECHS1 deficiency and its biochemical and clinical phenotype	16
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	16
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	15
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome	15
In Memoriam: Vazken M. Der Kaloustian	15
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant	15
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	15
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	15
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	15
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	15
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	15
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A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	14
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	14
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	14
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	14
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	14
Cover Image, Volume 191A, Number 6, June 2023	14
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	13
The Willingness to Participate in Genetic Studies may be Genetic	13
Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review	13
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ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features	13
Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18	13
Publication schedule for 2022	13
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum	12
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	12
Exploring Pediatricians’ Implicit Bias Related to Newborns’ Intellectual Disability Risk: Merged Vignette and Implicit Association Test (IAT) Results	12
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	12
Delayed diagnosis and racial bias in children with genetic conditions	12
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome	12
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics	12
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia	11
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	11
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	11
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	11
High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome	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
Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism	11
Correction to “Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report”	11
Thick Corpus Callosum: An Unusual Finding of TUBGCP2‐Related Tubulinopathy	11
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations	11
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies	11
Musculoskeletal phenotypes in 3q29 deletion syndrome	11
Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome	11
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	11
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	11
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	10

In This Issue	10
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	10
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis	10
Table of Contents, Volume 194A, Number 7, July 2024	10
Exploring the Low Uptake of Gene Therapy in Hemophilia	10
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	10
Germline RTEL1 Variants in Telomere Biology Disorders	10
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Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spe	10
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4	10
In This Issue	10
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy	10
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	10
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	10
Genome‐Wide Cell‐Free DNA Screening Tests Go Beyond Scope of Traditional cfDNA Assays	10
In This Issue	10
Cover Image, Volume 188A, Number 9, September 2022	10
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	10
3q29 duplications: A cohort of 46 patients and a literature review	10
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	10
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	9
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	9
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	9
Katherine M. Hyland, PhD	9
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	9
A monoallelicSEC23AvariantE599Kassociated withcranio‐lenticulo‐suturaldysplasia	9
X‐linked genetic associations in sporadic thoracic aortic dissection	9
Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features	9
In This Issue	9
Adherence to adult clinical practice guidelines for Down syndrome	9
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	9
Ophthalmic manifestations of Czech dysplasia	9
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome	9
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	9
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	9
Adapting a quality of life scale for children and young people with Down syndrome in Chile	9
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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	9
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	9
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics	9
Multi‐locus pathogenic variation identified in a patient with craniosynostosis	9
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements	9
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	9
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature	9
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers	9
Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation	9
Rule Expansion Further Regulates Laboratory Developed Tests	8
In This Issue	8
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	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
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia	8
Near complete deletion of KMT2D in a college student	8
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency	8
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	8
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	8
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	8
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	8
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases	8
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	8
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Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	8
Neuropsychiatric features of Prader–Willi syndrome	8
Table of Contents, Volume 194A, Number 1, January 2024	8
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	8
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	8
Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective	8
Rare diseases of ectoderm: Translating discovery to therapy	8
Novel NALCN variant linked to temporal lobe epilepsy	8
Hepatoblastoma in molecularly defined, congenital diseases	8
Long‐Read Sequencing Could Increase Diagnosis Rates	8
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	8
Table of Contents, Volume 194A, Number 10, October 2024	8
Table of Contents, Volume 191A, Number 6, June 2023	8
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models	8
In Loving Memory of Mary Kaye Richter (1945–2022)	8
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	8
In Memoriam: Norio Niikawa, MD, PHD (1942–2022)	8
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	8
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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	8

Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis	8
A novel variant of ARPC4‐related neurodevelopmental disorder	8
Detecting pathogenic deep intronic variants in Gitelman syndrome	8
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	8
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	8
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome	7
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes	7
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes	7
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India	7
Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates	7
Inpatient Hospitalizations for COVID‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis	7
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	7
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19	7
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome	7
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	7
Digital vascular lesions detected by transillumination	7
PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome	7
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	7
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome	7
Table of Contents, Volume 194A, Number 9, September 2024	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome	7
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A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees	7
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction	7
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype	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
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network	7
Mislocalization is a Common Consequence of Coding Variation	7
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome	7
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	7
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	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
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network	7
Table of Contents, Volume 185A, Number 12, December 2021	7
Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning	7
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease	7
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review	7
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet	7
Retinal detachment in Loeys–Dietz syndrome	7
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	7
Research Letter: Recruiting a Diverse Cohort in Genetics Research—Reflecting on Demographic Representation in a Down Syndrome Survey	7
An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations	7
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County	7
Correction to “Vestibular and audiological findings in the Alport syndrome”	7
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition	7
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	7
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect	7
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	7
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In This Issue	7
Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder	7
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2‐Related Mitochondrial Disorder	7
Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2	7
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	7
A study of disparities in access to genetic care pre‐ and post‐pandemic	7
Table of Contents, Volume 188A, Number 1, January 2022	7
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	7
Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review	7
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay	7
Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum	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
Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient	6
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds	6
Prenatally detected encephalocele associated with a novel pathogenicTCTN3variant: A case report and literature review	6
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?	6
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome	6
Family perspectives on gaps in health care for people with Down syndrome	6
In This Issue	6
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views	6
Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures	6
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene	6
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing	6
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation	6
Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test	6
Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability	6
MAX‐Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant	6
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features	6
Non‐Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations	6
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion	6
Letter to the Editor regarding “New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An invest	6
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance	6
The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality	6
In This Issue	6
History and highlights of the teratological collection in theNarrenturm, Vienna (Austria)	6
David W. Smith Workshop: 44 Years and Going Strong	6
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency	6
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants	6
Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study	6
New clinical features in an adult patient with Skraban‐Deardorff syndrome	6
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness	6
Growth charts for Mexican children with Down syndrome	6