American Journal of Medical Genetics Part A

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	219
Table of Contents, Volume 185A, Number 10, October 2021	45
Table of Contents, Volume 185A, Number 11, November 2021	35
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?	35
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	31
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	28
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene	28
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	27
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	26
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders	24
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	23
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias	23
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	22
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D	22
An exploratory study of plasma ceramides in comorbidities in Down syndrome	21
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	20
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	19
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
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	19
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	18
Autosomal dominant inheritance with sex‐limited infertility	18
Co‐occurring anomalies in congenital oral clefts	17
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	17

Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome	17
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant	16
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	16
ECHS1 deficiency and its biochemical and clinical phenotype	16
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	16
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome	16
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	15
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	15
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	15
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	15
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	15
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	15
In Memoriam: Vazken M. Der Kaloustian	15
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	15
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	15
Cover Image, Volume 191A, Number 6, June 2023	14
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	14
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	14
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	14
The Willingness to Participate in Genetic Studies may be Genetic	13
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	13
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum	13
Publication schedule for 2022	13
Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18	13
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies	13
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder	13
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Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review	13
ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features	13
Exploring Pediatricians’ Implicit Bias Related to Newborns’ Intellectual Disability Risk: Merged Vignette and Implicit Association Test (IAT) Results	12
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	12
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome	12
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	12
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome	12
Musculoskeletal phenotypes in 3q29 deletion syndrome	11
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy	11
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	11
In This Issue	11
Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome	11
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4	11
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy	11
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	11
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations	11
High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome	11
Delayed diagnosis and racial bias in children with genetic conditions	11
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	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
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	11
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	11
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	10

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	10
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	10
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	10
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	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
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	10
Table of Contents, Volume 194A, Number 7, July 2024	10
3q29 duplications: A cohort of 46 patients and a literature review	10
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements	10
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia	10
In This Issue	10
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics	10
Correction to “Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report”	10
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	10
Exploring the Low Uptake of Gene Therapy in Hemophilia	10
Thick Corpus Callosum: An Unusual Finding of TUBGCP2‐Related Tubulinopathy	10
Germline RTEL1 Variants in Telomere Biology Disorders	10
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis	10
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Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	10
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia	10
Near complete deletion of KMT2D in a college student	9
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spe	9
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature	9
In This Issue	9
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	9
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	9
Novel NALCN variant linked to temporal lobe epilepsy	9
A novel variant of ARPC4‐related neurodevelopmental disorder	9
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	9
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings	9
Adapting a quality of life scale for children and young people with Down syndrome in Chile	9
Rare diseases of ectoderm: Translating discovery to therapy	9
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Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation	9
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	9
Detecting pathogenic deep intronic variants in Gitelman syndrome	9
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	9
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	9
Neuropsychiatric features of Prader–Willi syndrome	9
A monoallelicSEC23AvariantE599Kassociated withcranio‐lenticulo‐suturaldysplasia	9
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	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
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis	9
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	9
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Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features	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
Adherence to adult clinical practice guidelines for Down syndrome	8
In Memoriam: Norio Niikawa, MD, PHD (1942–2022)	8
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	8
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	8
Hepatoblastoma in molecularly defined, congenital diseases	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
The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort	8
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes	8
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	8
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics	8
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	8
Table of Contents, Volume 191A, Number 6, June 2023	8
Katherine M. Hyland, PhD	8
In Loving Memory of Mary Kaye Richter (1945–2022)	8
X‐linked genetic associations in sporadic thoracic aortic dissection	8
Table of Contents, Volume 194A, Number 1, January 2024	8
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	8
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency	8
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models	8
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	8
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome	8
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	8
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect	8
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	8
Ophthalmic manifestations of Czech dysplasia	8
Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning	8
In This Issue	8
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers	8
Long‐Read Sequencing Could Increase Diagnosis Rates	8
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	8

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Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	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
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	8
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	8
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	8
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	8
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	8
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	8
Brain cell signaling abnormalities are detected in blood in a murine model of Fragile X syndrome and corrected by Sigma‐1 receptor agonist Blarcamesine	8
Multi‐locus pathogenic variation identified in a patient with craniosynostosis	8
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network	8
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	7
Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder	7
Table of Contents, Volume 188A, Number 1, January 2022	7
Non‐Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations	7
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes	7
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	7
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases	7
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review	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
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Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet	7
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome	7
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome	7
Inpatient Hospitalizations for COVID‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis	7
Rule Expansion Further Regulates Laboratory Developed Tests	7
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	7
In This Issue	7
Table of Contents, Volume 185A, Number 12, December 2021	7
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion	7
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome	7
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	7
Table of Contents, Volume 194A, Number 9, September 2024	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
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome	7
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay	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
Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review	7
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	7
Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities	7
Mislocalization is a Common Consequence of Coding Variation	7
Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates	7
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19	7
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Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype	7
Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome	7
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network	7
Prevalence rates for ectodermal dysplasia syndromes	7
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	7
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India	7
Correction to “Vestibular and audiological findings in the Alport syndrome”	7
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	7
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	7
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2	7
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition	7
Research Letter: Recruiting a Diverse Cohort in Genetics Research—Reflecting on Demographic Representation in a Down Syndrome Survey	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
Table of Contents, Volume 194A, Number 10, October 2024	7
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study	6
David W. Smith Workshop: 44 Years and Going Strong	6
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene	6
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?	6
First case of desmosterolosis diagnosed by prenatal whole exome sequencing	6
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness	6
Quantitative measures of motor development in Angelman syndrome	6
Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures	6
Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient	6
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features	6
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants	6
In This Issue	6
Prenatally detected encephalocele associated with a novel pathogenicTCTN3variant: A case report and literature review	6
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
The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality	6
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10	6
Growth charts for Mexican children with Down syndrome	6
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing	6
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds	6
New clinical features in an adult patient with Skraban‐Deardorff syndrome	6
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome	6
Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test	6
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Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation	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
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance	6
PUS3‐related disorder: Report of a novel patient and delineation of the phenotypic spectrum	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
Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study	6
In This Issue	6
History and highlights of the teratological collection in theNarrenturm, Vienna (Austria)	6
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views	6