American Journal of Medical Genetics Part A

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	200
Table of Contents, Volume 185A, Number 10, October 2021	104
	44
Table of Contents, Volume 185A, Number 11, November 2021	35
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?	34
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	31
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341	29
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	27
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	27
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	27
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	26
In Memoriam: Vazken M. Der Kaloustian	26
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	26
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	22
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant	22
Co‐occurring anomalies in congenital oral clefts	22
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	22
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	22
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	21
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report	20
ECHS1 deficiency and its biochemical and clinical phenotype	20
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders	19
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	18
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias	18
An exploratory study of plasma ceramides in comorbidities in Down syndrome	17

Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	17
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations	17
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D	17
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	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	16
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	16
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	16
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	16
Autosomal dominant inheritance with sex‐limited infertility	16
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy	16
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes	15
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	15
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	15
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome	15
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome	15
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	15
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	15
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	15
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	14
Publication schedule for 2022	14
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	14
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy	14
Germline RTEL1 Variants in Telomere Biology Disorders	14
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	14
Cover Image, Volume 191A, Number 6, June 2023	14
The Willingness to Participate in Genetic Studies may be Genetic	13
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	13
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	13
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Correction to “Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report”	13
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis	13
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	13
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome	13
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations	13
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies	12
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	12
3q29 duplications: A cohort of 46 patients and a literature review	12
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia	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
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	12
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	12
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4	12
Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder	12
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum	12
Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18	12
Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities	12
Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review	12
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	11
Table of Contents, Volume 194A, Number 7, July 2024	11
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	11

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics	11
High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome	11
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	11
In This Issue	11
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	11
Exploring the Low Uptake of Gene Therapy in Hemophilia	11
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy	11
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	11
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome	11
Musculoskeletal phenotypes in 3q29 deletion syndrome	11
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	11
Delayed diagnosis and racial bias in children with genetic conditions	11
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	10
In This Issue	10
Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features	10
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	10
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers	10
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome	10
Genome‐Wide Cell‐Free DNA Screening Tests Go Beyond Scope of Traditional cfDNA Assays	10
Thick Corpus Callosum: An Unusual Finding of TUBGCP2‐Related Tubulinopathy	10
Cover Image, Volume 188A, Number 9, September 2022	10
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature	10
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	10
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spe	10
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	10
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	10
In This Issue	10
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X‐linked genetic associations in sporadic thoracic aortic dissection	10
Viewing VictorMcKusick's legacy through the lens of his bibliography	9
In This Issue	9
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	9
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	9
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	9
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models	9
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	9
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis	9
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia	9
Novel NALCN variant linked to temporal lobe epilepsy	9
Katherine M. Hyland, PhD	9
Rare diseases of ectoderm: Translating discovery to therapy	9
Adherence to adult clinical practice guidelines for Down syndrome	9
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	9
Ophthalmic manifestations of Czech dysplasia	9
A monoallelicSEC23AvariantE599Kassociated withcranio‐lenticulo‐suturaldysplasia	9
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	9
Near complete deletion of KMT2D in a college student	9
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	9
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	9
A novel variant of ARPC4‐related neurodevelopmental disorder	9
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant	9
A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly	9
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	9
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings	9
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements	9
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	9
Adapting a quality of life scale for children and young people with Down syndrome in Chile	9
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	8
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect	8
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	8
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	8
Hepatoblastoma in molecularly defined, congenital diseases	8
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	8
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Table of Contents, Volume 191A, Number 6, June 2023	8
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	8
Detecting pathogenic deep intronic variants in Gitelman syndrome	8
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency	8
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	8
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	8
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	8
In Loving Memory of Mary Kaye Richter (1945–2022)	8
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	8
Inpatient Hospitalizations for COVID‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis	8
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes	8
In Memoriam: Norio Niikawa, MD, PHD (1942–2022)	8
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Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation	8
Mislocalization is a Common Consequence of Coding Variation	8
Neuropsychiatric features of Prader–Willi syndrome	8

In This Issue	8
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Multi‐locus pathogenic variation identified in a patient with craniosynostosis	8
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	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
Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder	8
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics	8
Long‐Read Sequencing Could Increase Diagnosis Rates	8
Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates	8
Table of Contents, Volume 194A, Number 10, October 2024	8
The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort	8
Rule Expansion Further Regulates Laboratory Developed Tests	8
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	8
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	8
Table of Contents, Volume 194A, Number 1, January 2024	8
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	8
Delivering a new diagnosis of Down syndrome: Parent experience	8
Table of Contents, Volume 185A, Number 8, August 2021	8
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	8
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	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
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
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees	8
Table of Contents, Volume 185A, Number 12, December 2021	7
Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy	7
Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome	7
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review	7
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	7
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases	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
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes	7
In This Issue	7
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome	7
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	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
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion	7
In Memoriam: “Holstein cows in Holstein.” Victor A. McKusick: 40 years of remembrance from Europe	7
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	7
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet	7
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Family perspectives on gaps in health care for people with Down syndrome	7
Digital vascular lesions detected by transillumination	7
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19	7
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease	7
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	7
Table of Contents, Volume 188A, Number 1, January 2022	7
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County	7
Table of Contents, Volume 194A, Number 9, September 2024	7
The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned	7
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype	7
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome	7
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India	7
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	7
Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning	7
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Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene	7
Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network	7
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction	7
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Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review	7
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases	7
A study of disparities in access to genetic care pre‐ and post‐pandemic	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network	7
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	7
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	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
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Table of Contents, Volume 194A, Number 4, April 2024	6
Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature	6
Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence	6
Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series	6
Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome	6
Growth charts for Mexican children with Down syndrome	6
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene	6
Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test	6
De Novo Variants in LRRC8C Linked to Rare Disorder	6
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds	6
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes	6
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance	6
Prenatally detected encephalocele associated with a novel pathogenicTCTN3variant: A case report and literature review	6
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation	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
CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia	6
David W. Smith Workshop: 44 Years and Going Strong	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
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?	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
Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum	6
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly	6