American Journal of Medical Genetics Part A

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	332
	44
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	41
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	35
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	32
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	32
In Memoriam: Vazken M. Der Kaloustian	28
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	27
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	26
Autosomal dominant inheritance with sex‐limited infertility	24
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	23
An exploratory study of plasma ceramides in comorbidities in Down syndrome	23
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	22
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially As	21
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	21
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	21
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay a	21
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	20
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	20
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	19
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	19
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	19
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	19
KDM2B ‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and	18
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	18

Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	17
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review	17
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	16
Caregiver Interviews Regarding Health in Down Syndrome	16
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	16
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5	15
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene	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
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	14
	14
Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome	14
The Willingness to Participate in Genetic Studies may be Genetic	14
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies	14
ECHS1 deficiency and its biochemical and clinical phenotype	14
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy	13
In This Issue	13
High Rates of Dysphagia and Silent Aspiration in Infants With Prader‐Willi Syndrome	13
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations	13
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma	13
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita	13
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review	13
Table of Contents, Volume 194A, Number 7, July 2024	13
Exploring the Low Uptake of Gene Therapy in Hemophilia	13
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome	13
Impaired SERPINF1 Expression due to c.[‐ 37C &g	12
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome	12
Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis	12
Exploring Pediatricians’ Implicit Bias Related to Newborns’ Intellectual Disability Risk: Merged Vignette and Implicit Association Test ( IAT ) Resul	12
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L	12
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia	12
Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome	12
A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability	12
High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐	12
Table of Contents, Volume 200A, Number 5, February 2026	11
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature	11
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype	11
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia	11
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex	11
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus	11
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplant	11
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families	11
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry	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
Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review	11
Musculoskeletal phenotypes in 3q29 deletion syndrome	11
The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid‐Enrolled Adults With Down Syndrome, 2011–2019	11
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA 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
3q29 duplications: A cohort of 46 patients and a literature review	11

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
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
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy	11
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients	10
	10
Novel MYL1 Intron Variant With Expanded Phenotype	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
Revisiting the W ‐Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and t	10
Correction to “Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case	10
Germline RTEL1 Variants in Telomere Biology Disorders	10
Cover Image, Volume 188A, Number 9, September 2022	10
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO	10
Potential Therapy Corrects Calcium Signaling in Timothy Syndrome	10
In This Issue	10
Thick Corpus Callosum: An Unusual Finding of TUBGCP2‐Related Tubulinopathy	10
Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4	10
Non‐ RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome	10
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations	10
Katherine M. Hyland, PhD	10
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency	9
Ophthalmic manifestations of Czech dysplasia	9
In This Issue	9
A Population‐Based Assessment of Cancer Risk in Children With VACTERL	9
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual	9
Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis	9
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program	9
Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective	9
Novel NALCN variant linked to temporal lobe epilepsy	9
Detecting pathogenic deep intronic variants in Gitelman syndrome	9
In This Issue	9
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women	9
A novel variant of ARPC4‐related neurodevelopmental disorder	9
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease	9
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings	9
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review	9
Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion	9
Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation	9
Adapting a quality of life scale for children and young people with Down syndrome in Chile	9
Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session	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
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders	9
	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
Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability	8
A New Patient With SPOUT1 ‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Revie	8
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene	8
Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome	8
Identification of a Novel TBCK Variation in an A zari Consanguineous Family With Psychomotor Developme	8
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Dis	8
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome	8
Table of Contents, Volume 191A, Number 6, June 2023	8
In Memoriam: Norio Niikawa, MD, PHD (1942–2022)	8
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management	8
Differentiated In Vitro Efficacy of BYL719 , ARQ092 , and Rapamycin on Fibroblasts Isolated From a	8
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency	8
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells	8
Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population	8
Early development and adaptive functioning in children with Bardet‐Biedl syndrome	8
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome	8
A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature	8
	8
In Loving Memory of Mary Kaye Richter (1945–2022)	8
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics	8
X‐linked genetic associations in sporadic thoracic aortic dissection	8
Adherence to adult clinical practice guidelines for Down syndrome	8
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation	8
Rare diseases of ectoderm: Translating discovery to therapy	8
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review	8
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia	8
Table of Contents, Volume 194A, Number 1, January 2024	8
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
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
Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder	7
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)	7
TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families	7
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition	7
A Novel KCNQ2 Gain‐of‐Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy	7

Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort	7
John M Opitz: Physician, morphologist, scholar, editor (1935–2023)	7
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization	7
In This Issue	7
Classification of isolated versus multiple birth defects: An automated process for population‐based registries	7
Table of Contents, Volume 194A, Number 10, October 2024	7
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature	7
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder	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
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
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum	7
Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations	7
An ITPR1 Variant in the IP3 ‐ ITPR1 Binding Poc	7
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome	7
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes	7
Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia	7
Maternal UPD (20) Leading to Mulchandani‐Bhoj‐Conlin Syndrome: A Rare Neonatal Case With Additional <	7
Table of Contents, Volume 194A, Number 9, September 2024	7
Mislocalization is a Common Consequence of Coding Variation	7
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B	7
A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion	7
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder	7
Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effe	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
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study	7
Refining the phenotypic spectrum of CCDC88A‐related PEHO‐like syndrome	7
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19	7
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022	7
Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling	7
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder	7
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet	7
Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing	7
A study of disparities in access to genetic care pre‐ and post‐pandemic	7
Early Neonatal Administration of Vosoritide in Achondroplasia: A Report of Two Cases	7
Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates	7
Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome	7
Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases	7
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
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review	6
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study	6
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10	6
Correction to “Vestibular and audiological findings in the Alport syndrome ”	6
Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion	6
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome	6
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia	6
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2	6
Retinal detachment in Loeys–Dietz syndrome	6
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes	6
In This Issue	6
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder	6
In This Issue	6
Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy	6
ATP6V0A2 ‐Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant	6
A unique cardiovascular presentation of Marfan syndrome	6
Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia	6
The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability	6
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing	6
GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism,	6
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2	6
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network	6
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome	6
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2	6
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease	6
Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome	6
An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations	6
VariantMatcher : Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery	6
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice	6
David W. Smith Workshop: 44 Years and Going Strong	6
First case of desmosterolosis diagnosed by prenatal whole exome sequencing	6
Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features	6
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls	6
Prevalence rates for ectodermal dysplasia syndromes	6
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India	6
Complex Genetic Architecture in RASopathies : Constitutional PTPN11	6
Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome	6
Exploring the Clinical Spectrum of HUWE1 ‐Related Neurodevelopmental Disorder: Five New Patients a	6
Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction	6
Research Letter: Recruiting a Diverse Cohort in Genetics Research—Reflecting on Demographic Representation in a Down Syndrome Survey	6
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay	6
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene	6
Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands	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
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
Malignant Phyllodes Tumor of the Breast in a Young Adult With Neurofibromatosis Type 1	6
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features	6
Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test	6
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome	6
Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability	6
PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome	6
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant	6
A 22q13.1 duplication in mosaicism including SOX10	6
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype	6