American Journal of Medical Genetics Part A

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	314
	44
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	40
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	34
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	31
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	30
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	28
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	27
In Memoriam: Vazken M. Der Kaloustian	24
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	24
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	23
An exploratory study of plasma ceramides in comorbidities in Down syndrome	22
Autosomal dominant inheritance with sex‐limited infertility	22
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	22
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially As	21
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	21
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	21
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	20
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay a	19
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	19
ECHS1 deficiency and its biochemical and clinical phenotype	19
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	19
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	18
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	18
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	18

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	17
Phenotypic variability in RERE‐related disorders and the first report of an inherited variant	17
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	17
Caregiver Interviews Regarding Health in Down Syndrome	17
KDM2B ‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and	16
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies	16
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene	16
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	16
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5	16
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Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	15
Table of Contents, Volume 194A, Number 7, July 2024	14
The Willingness to Participate in Genetic Studies may be Genetic	14
In This Issue	14
Cover Image, Volume 191A, Number 6, June 2023	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
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	13
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	13
Germline RTEL1 Variants in Telomere Biology Disorders	13
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis	13
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	13
Impaired SERPINF1 Expression due to c.[‐ 37C &g	13
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	13
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	13
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	13
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplant	13
Exploring the Low Uptake of Gene Therapy in Hemophilia	13
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	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
Table of Contents, Volume 200A, Number 5, February 2026	13
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	12
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	12
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	12
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	12
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO	12
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	12
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia	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	12
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4	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
Musculoskeletal phenotypes in 3q29 deletion syndrome	11
Correction to “Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case	11
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	11
Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome	11
Novel MYL1 Intron Variant With Expanded Phenotype	11
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	11
High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome	11
Non‐ RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome	11

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐	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
Exploring Pediatricians’ Implicit Bias Related to Newborns’ Intellectual Disability Risk: Merged Vignette and Implicit Association Test ( IAT ) Resul	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
3q29 duplications: A cohort of 46 patients and a literature review	11
Katherine M. Hyland, PhD	10
Adapting a quality of life scale for children and young people with Down syndrome in Chile	10
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	10
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers	10
ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features	10
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Multi‐locus pathogenic variation identified in a patient with craniosynostosis	10
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	10
Thick Corpus Callosum: An Unusual Finding of TUBGCP2‐Related Tubulinopathy	10
The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid‐Enrolled Adults With Down Syndrome, 2011–2019	10
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	10
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome	10
Ophthalmic manifestations of Czech dysplasia	10
Cover Image, Volume 188A, Number 9, September 2022	10
In This Issue	10
Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review	10
In This Issue	10
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	9
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	9
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	9
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	9
Adherence to adult clinical practice guidelines for Down syndrome	9
A New Patient With SPOUT1 ‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Revie	9
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A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	9
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	9
Novel NALCN variant linked to temporal lobe epilepsy	9
Detecting pathogenic deep intronic variants in Gitelman 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
A novel variant of ARPC4‐related neurodevelopmental disorder	9
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	9
Identification of a Novel TBCK Variation in an A zari Consanguineous Family With Psychomotor Developme	9
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	9
Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation	9
In This Issue	9
Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective	9
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	9
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	9
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics	9
Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population	9
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements	9
Rare diseases of ectoderm: Translating discovery to therapy	9
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management	8
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	8
Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability	8
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	8
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature	8
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	8
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effe	8
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	8
In Memoriam: Norio Niikawa, MD, PHD (1942–2022)	8
X‐linked genetic associations in sporadic thoracic aortic dissection	8
A Population‐Based Assessment of Cancer Risk in Children With VACTERL	8
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	8
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	8
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia	8
Table of Contents, Volume 194A, Number 1, January 2024	8
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	8
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	8
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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
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency	8
Differentiated In Vitro Efficacy of BYL719 , ARQ092 , and Rapamycin on Fibroblasts Isolated From a	8
Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features	8
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	8
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency	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
In Loving Memory of Mary Kaye Richter (1945–2022)	8
Table of Contents, Volume 191A, Number 6, June 2023	8
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition	7
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B	7
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	7
A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion	7

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder	7
Mislocalization is a Common Consequence of Coding Variation	7
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2	7
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	7
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction	7
Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates	7
A study of disparities in access to genetic care pre‐ and post‐pandemic	7
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet	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
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes	7
Inpatient Hospitalizations for COVID ‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis	7
Maternal UPD (20) Leading to Mulchandani‐Bhoj‐Conlin Syndrome: A Rare Neonatal Case With Additional <	7
A Novel KCNQ2 Gain‐of‐Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy	7
Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling	7
Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay	7
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	7
An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations	7
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	7
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
Table of Contents, Volume 194A, Number 10, October 2024	7
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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
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male	7
Rule Expansion Further Regulates Laboratory Developed Tests	7
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	7
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes	7
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	7
An ITPR1 Variant in the IP3 ‐ ITPR1 Binding Poc	7
Early Neonatal Administration of Vosoritide in Achondroplasia: A Report of Two Cases	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
Correction to “Vestibular and audiological findings in the Alport syndrome ”	7
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	7
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome	7
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	7
Table of Contents, Volume 194A, Number 9, September 2024	7
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	7
Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands	7
Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐ CoA Dehydrogenase Deficiency ( LCHADD ) E	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
MAX‐Related Disorder: Expanding the Phenotype of the Recurrent p. Arg60Gln Variant	6
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants	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
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features	6
Exploring the Clinical Spectrum of HUWE1 ‐Related Neurodevelopmental Disorder: Five New Patients a	6
David W. Smith Workshop: 44 Years and Going Strong	6
A pilot study of home‐based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia	6
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	6
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Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia	6
A unique cardiovascular presentation of Marfan syndrome	6
Research Letter: Recruiting a Diverse Cohort in Genetics Research—Reflecting on Demographic Representation in a Down Syndrome Survey	6
Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome	6
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study	6
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene	6
Obstetrical and neonatal outcomes of cardio‐facio‐cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation	6
The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity o	6
Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability	6
Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome	6
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency	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
Retinal detachment in Loeys–Dietz syndrome	6
Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test	6
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India	6
In This Issue	6
Non‐Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations	6
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2	6
A 22q13.1 duplication in mosaicism including SOX10	6
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10	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
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network	6
Complex Genetic Architecture in RASopathies : Constitutional PTPN11	6
Prevalence rates for ectodermal dysplasia syndromes	6
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome	6
VariantMatcher : Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery	6
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling	6
De Novo Variants in LRRC8C Linked to Rare Disorder	6
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice	6
Quantitative measures of motor development in Angelman syndrome	6
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant	6
Views on the impact of the COVID‐19 pandemic on health in people with Down syndrome from diverse backgrounds	6
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort	6
Malignant Phyllodes Tumor of the Breast in a Young Adult With Neurofibromatosis Type 1	6
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	6
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion	6
The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability	6
GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism,	6
ATP6V0A2 ‐Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant	6
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes	6
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review	6
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing	6
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype	6