American Journal of Medical Genetics Part A

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	251
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Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	41
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341	36
Co‐occurring anomalies in congenital oral clefts	35
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	31
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma	29
Caregiver Interviews Regarding Health in Down Syndrome	28
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	27
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	24
ECHS1 deficiency and its biochemical and clinical phenotype	21
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	21
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	20
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	20
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	20
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	19
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	19
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	18
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	18
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	18
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	18
In Memoriam: Vazken M. Der Kaloustian	18
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	17
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	17
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	17

Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	17
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	17
Autosomal dominant inheritance with sex‐limited infertility	17
An exploratory study of plasma ceramides in comorbidities in Down syndrome	17
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome	16
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	16
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	15
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5	15
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome	15
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	15
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D	15
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	15
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	15
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene	15
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	15
Cover Image, Volume 191A, Number 6, June 2023	14
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant	14
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The Willingness to Participate in Genetic Studies may be Genetic	14
Publication schedule for 2022	14
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4	13
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy	13
In This Issue	13
Table of Contents, Volume 194A, Number 7, July 2024	13
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations	13
High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome	13
3q29 duplications: A cohort of 46 patients and a literature review	12
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	12
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	12
Thick Corpus Callosum: An Unusual Finding of TUBGCP2‐Related Tubulinopathy	12
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis	12
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	12
Exploring the Low Uptake of Gene Therapy in Hemophilia	12
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	12
The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid‐Enrolled Adults With Down Syndrome, 2011–2019	12
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	12
Musculoskeletal phenotypes in 3q29 deletion syndrome	12
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	12
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	12
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	12
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO	12
Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism	12
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	11
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome	11
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	11
Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome	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
Correction to “Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report”	11
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	11
Germline RTEL1 Variants in Telomere Biology Disorders	11

Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review	11
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	11
ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features	11
Exploring Pediatricians’ Implicit Bias Related to Newborns’ Intellectual Disability Risk: Merged Vignette and Implicit Association Test (IAT) Results	11
Non‐ RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome	11
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia	10
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	10
Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities	10
In This Issue	10
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	10
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers	10
Multi‐locus pathogenic variation identified in a patient with craniosynostosis	10
In This Issue	10
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics	10
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	10
Cover Image, Volume 188A, Number 9, September 2022	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
X‐linked genetic associations in sporadic thoracic aortic dissection	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
Delayed diagnosis and racial bias in children with genetic conditions	10
Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18	10
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Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	10
Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features	10
Katherine M. Hyland, PhD	10
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	10
Ophthalmic manifestations of Czech dysplasia	9
Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective	9
In This Issue	9
Detecting pathogenic deep intronic variants in Gitelman syndrome	9
Adherence to adult clinical practice guidelines for Down syndrome	9
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	9
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	9
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
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	9
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	9
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	9
In This Issue	9
Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation	9
Novel NALCN variant linked to temporal lobe epilepsy	9
Rare diseases of ectoderm: Translating discovery to therapy	9
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency	9
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	9
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics	9
Adapting a quality of life scale for children and young people with Down syndrome in Chile	9
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	9
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	9
A novel variant of ARPC4‐related neurodevelopmental disorder	9
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements	9
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
Long‐Read Sequencing Could Increase Diagnosis Rates	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
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	8
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	8
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Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	8
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	8
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	8
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	8
Table of Contents, Volume 191A, Number 6, June 2023	8
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Table of Contents, Volume 194A, Number 1, January 2024	8
Neuropsychiatric features of Prader–Willi syndrome	8
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	8
Hepatoblastoma in molecularly defined, congenital diseases	8
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia	8
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	8
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models	8
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	8
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	8
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	8
In Loving Memory of Mary Kaye Richter (1945–2022)	8
In This Issue	8
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature	8
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spe	8
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	8
Near complete deletion of KMT2D in a college student	8
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	8
In Memoriam: Norio Niikawa, MD, PHD (1942–2022)	8

Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases	8
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19	8
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability	7
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County	7
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	7
Correction to “Vestibular and audiological findings in the Alport syndrome”	7
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome	7
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	7
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	7
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	7
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	7
Research Letter: Recruiting a Diverse Cohort in Genetics Research—Reflecting on Demographic Representation in a Down Syndrome Survey	7
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	7
A 22q13.1 duplication in mosaicism including SOX10	7
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features	7
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A unique cardiovascular presentation of Marfan syndrome	7
Rule Expansion Further Regulates Laboratory Developed Tests	7
PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome	7
Obstetrical and neonatal outcomes of cardio‐facio‐cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation	7
An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy	7
Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review	7
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene	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
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect	7
An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations	7
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	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
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
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10	7
Mislocalization is a Common Consequence of Coding Variation	7
Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome	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 Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2	7
In This Issue	7
A study of disparities in access to genetic care pre‐ and post‐pandemic	7
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant	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
A pilot study of home‐based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome	7
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes	7
First reported cases with Xia‐Gibbs syndrome from India harboring novel variants in AHDC1	7
Table of Contents, Volume 194A, Number 10, October 2024	7
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	7
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	7
Inpatient Hospitalizations for COVID‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis	7
First case of desmosterolosis diagnosed by prenatal whole exome sequencing	7
Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates	7
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder	7
Table of Contents, Volume 188A, Number 1, January 2022	7
Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands	7
Table of Contents, Volume 185A, Number 12, December 2021	7
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition	7
Table of Contents, Volume 194A, Number 9, September 2024	7
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia	7
Maternal UPD(20) Leading to Mulchandani‐Bhoj‐Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion	7
CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia	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
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency	6
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance	6
Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine	6
Quantitative measures of motor development in Angelman syndrome	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
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome	6
History and highlights of the teratological collection in theNarrenturm, Vienna (Austria)	6
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome	6
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?	6
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related	6
Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures	6
Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study	6
Growth charts for Mexican children with Down syndrome	6
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds	6
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene	6
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family	6
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants	6
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	6
In This Issue	6
Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test	6
David W. Smith Workshop: 44 Years and Going Strong	6
In This Issue	6
Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient	6
MAX‐Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant	6
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation	6
Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications	6
Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum	6
New clinical features in an adult patient with Skraban‐Deardorff syndrome	6
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features	6
In This Issue	6
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling	6