American Journal of Medical Genetics Part A

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	357
	46
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	42
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	38
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	36
In Memoriam: Vazken M. Der Kaloustian	34
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	31
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	28
Autosomal dominant inheritance with sex‐limited infertility	28
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	25
An exploratory study of plasma ceramides in comorbidities in Down syndrome	25
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	23
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	22
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	22
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	22
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	22
KDM2B ‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and	21
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review	20
Caregiver Interviews Regarding Health in Down Syndrome	19
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies	19
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	19
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	19
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	18
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	18
Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome	18

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	17
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay a	17
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene	17
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	16
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially As	16
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5	16
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	16
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant	15
Cover Image, Volume 191A, Number 6, June 2023	15
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	15
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Table of Contents, Volume 194A, Number 7, July 2024	14
The Willingness to Participate in Genetic Studies may be Genetic	14
Exploring the Low Uptake of Gene Therapy in Hemophilia	14
In This Issue	14
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy	14
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations	14
High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome	13
Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome	13
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	13
High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐	13
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	13
Exploring Pediatricians’ Implicit Bias Related to Newborns’ Intellectual Disability Risk: Merged Vignette and Implicit Association Test ( IAT ) Resul	13
Impaired SERPINF1 Expression due to c.[‐ 37C &g	13
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	13
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	13
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	13
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	13
A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability	13
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome	13
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	13
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	12
Table of Contents, Volume 200A, Number 5, February 2026	12
3q29 duplications: A cohort of 46 patients and a literature review	12
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis	12
The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid‐Enrolled Adults With Down Syndrome, 2011–2019	12
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	12
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	12
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplant	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
Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mo	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	11
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	11
Thick Corpus Callosum: An Unusual Finding of TUBGCP2‐Related Tubulinopathy	11
Germline RTEL1 Variants in Telomere Biology Disorders	11
Novel MYL1 Intron Variant With Expanded Phenotype	11
Non‐ RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome	11
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO	11
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	11

Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	11
Musculoskeletal phenotypes in 3q29 deletion syndrome	11
Revisiting the W ‐Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and t	11
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	11
Multi‐locus pathogenic variation identified in a patient with craniosynostosis	10
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	10
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	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
	10
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers	10
Ophthalmic manifestations of Czech dysplasia	10
In This Issue	10
Katherine M. Hyland, PhD	10
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	10
Cover Image, Volume 188A, Number 9, September 2022	10
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome	10
Adapting a quality of life scale for children and young people with Down syndrome in Chile	10
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	10
In This Issue	10
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	10
X‐linked genetic associations in sporadic thoracic aortic dissection	9
Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective	9
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	9
Novel NALCN variant linked to temporal lobe epilepsy	9
A Population‐Based Assessment of Cancer Risk in Children With VACTERL	9
Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features	9
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements	9
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	9
A New Patient With SPOUT1 ‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Revie	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
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	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
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	9
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Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	9
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency	9
Adherence to adult clinical practice guidelines for Down syndrome	9
A novel variant of ARPC4‐related neurodevelopmental disorder	9
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	9
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	9
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	9
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	8
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	8
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	8
Identification of a Novel TBCK Variation in an A zari Consanguineous Family With Psychomotor Developme	8
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management	8
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Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	8
Maternal UPD (20) Leading to Mulchandani‐Bhoj‐Conlin Syndrome: A Rare Neonatal Case With Additional <	8
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	8
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	8
Table of Contents, Volume 194A, Number 10, October 2024	8
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	8
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases	8
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency	8
In Loving Memory of Mary Kaye Richter (1945–2022)	8
Differentiated In Vitro Efficacy of BYL719 , ARQ092 , and Rapamycin on Fibroblasts Isolated From a	8
Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population	8
Rare diseases of ectoderm: Translating discovery to therapy	8
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	8
An ITPR1 Variant in the IP3 ‐ ITPR1 Binding Poc	8
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	8
Mislocalization is a Common Consequence of Coding Variation	8
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	8
Table of Contents, Volume 194A, Number 1, January 2024	8
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	8
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics	8
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	8
Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability	8
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	8
Table of Contents, Volume 191A, Number 6, June 2023	8
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19	8
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	8
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	8
Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates	8
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay	7
Syndrome of the Month: Van den Ende‐Gupta Syndrome	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
A Novel KCNQ2 Gain‐of‐Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy	7
Rule Expansion Further Regulates Laboratory Developed Tests	7

The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability	7
Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia	7
ATP6V0A2 ‐Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant	7
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype	7
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B	7
VariantMatcher : Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery	7
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome	7
In This Issue	7
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	7
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction	7
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes	7
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2	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 Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion	7
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	7
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	7
Nanopore Sequencing Solves an Elusive Case of Sotos 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
Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome	7
FKTN Compound Heterozygosity Associated With Walker–Warburg Spectrum Features and Severe Cochlear Hypoplasia With Pres	7
Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features	7
GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism,	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India	7
Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐ CoA Dehydrogenase Deficiency ( LCHADD ) E	7
Table of Contents, Volume 194A, Number 9, September 2024	7
Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome	7
A study of disparities in access to genetic care pre‐ and post‐pandemic	7
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature	7
Correction to “Vestibular and audiological findings in the Alport syndrome ”	7
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	7
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effe	7
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes	7
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male	7
MYH11 ‐Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations	7
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	7
Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability	7
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant	7
Early Neonatal Administration of Vosoritide in Achondroplasia: A Report of Two Cases	7
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study	7
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study	7
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network	7
Inpatient Hospitalizations for COVID ‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis	7
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet	7
Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands	7
Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling	7
Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome	6
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome	6
Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome	6
In This Issue	6
First case of desmosterolosis diagnosed by prenatal whole exome sequencing	6
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease	6
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features	6
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Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?	6
Malignant Phyllodes Tumor of the Breast in a Young Adult With Neurofibromatosis Type 1	6
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice	6
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion	6
Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence	6
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views	6
CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia	6
Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures	6
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling	6
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes	6
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency	6
Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy	6
David W. Smith Workshop: 44 Years and Going Strong	6
Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil	6
Obstetrical and neonatal outcomes of cardio‐facio‐cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation	6
PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome	6
Non‐Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations	6
Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome	6
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review	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
Exploring the Clinical Spectrum of HUWE1 ‐Related Neurodevelopmental Disorder: Five New Patients a	6
Dentofacial Findings and Management of two Pediatric Patients With Bainbridge‐Ropers Syndrome: A Case Report	6
Table of Contents, Volume 194A, Number 4, April 2024	6
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related	6
MAX‐Related Disorder: Expanding the Phenotype of the Recurrent p. Arg60Gln Variant	6
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder	6
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2	6
SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly	6
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome	6
In This Issue	6
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder	6
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort	6
De Novo Variants in LRRC8C Linked to Rare Disorder	6
A pilot study of home‐based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia	6
Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome	6
Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study	6
Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications	6
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness	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
In This Issue	6