Clinical Genetics

Article	Citations
	47
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	34
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	34
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	34
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	30
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	29
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	27
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	27
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Rus	24
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	22
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	22
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	21
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	20
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	20
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	19
A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with M arfan syndrom	18
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MO	18
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy	18
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	18
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	18
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	17
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry	17
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis	17
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	16
Kinesin family member 12 ‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase	16

Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	16
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita	15
BRCA1‐associated protein 1 : Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	15
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	15
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder	15
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	15
Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila	15
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	15
Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing	15
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach	14
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability	14
Quantification of Lateralized Overgrowth and Genotype‐Driven Tissue Composition	14
Issue Information	14
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease	14
	13
RePOWER : An International, Prospective, Non‐Interventional Registry of Patients With Primary Mitochondrial Myopathy	13
Novel biallelic variants expand the phenotype of NAA20‐related syndrome	13
Issue Information	13
Issue Information	13
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis	12
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility	12
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	12
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly	12
Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review	12
Mutations in LRP5 and BMP4	12
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing	12
	11
Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment	11
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China	11
	11
De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia	11
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT : 31 Pediatric Patients and 16 Novel Variants	11
	11
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile	11
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population	11
FGF9 variant in 46, XY DSD patient suggests a role for dimerization in sex determination	11
Issue Information	11
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing	11
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants	11
A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response	10
A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic	10
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia	10
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases	10
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10 ‐Related Neurodevelopmental Disorder	10
Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype	10
Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population	10
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy	10
Discovering the ANK2 ‐related autism phenotype	10
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D ‐related neurodevelopmental di	10
Mitochondrial DNA Depletion Syndrome 1 ( MTDPS1 )—A Novel Cause of Premature Ovarian Insufficiency	10

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil	10
Copy number variations in SPAST and ATL1 are rare among Brazilians	10
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family	10
A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, gen	10
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review	10
CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation	9
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome	9
LONP1 Variants Are Associated With Clinically Diverse Phenotypes	9
Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review	9
Identifying candidate genes underlying isolated congenital anosmia	9
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorde	9
Issue Information	9
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenes	9
Progress on the study of Popeye domain‐containing 3 ( POPDC3 ) in malignancies and striated muscle function and homeostasis	9
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic	9
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome	9
Founder Variants of the Turkish	9
	9
Limited Diagnostic Utility of PRDM10 Analysis in Birt–Hogg–Dubé Syndrome: Experience in 313 Consec	9
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis	9
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit ( GSS )	9
Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early‐Onset Neurodegenerative Disorder With Cerebral Atrophy	9
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes	9
	9
Homozygous LZTR1 Variant Lacking the Second BTB	9
	8
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome	8
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum	8
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short statu	8
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype	8
Issue Information	8
	8
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects	8
Clinical Feasibility of Long‐Read WGS for DNA Methylation Signature Analysis	8
Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified S	8
Intrahepatic Cholestasis of Pregnancy: A Single‐Centre Whole‐Exome Sequencing Study in a Maltese Cohort	8
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias	8
Genotype–Phenotype Correlations in Chinese Pediatric Patients With Single Large‐Scale Mitochondrial DNA Deletion Disorders	8
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability	8
Issue Information	8
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders	8
Issue Information	8
Genotype–Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study	8
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	8
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1	8
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing	7
Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac	7
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	7
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	7
Unraveling the Role of WDR91 : Case Report of a Previously Unrecognized Clinical Entity	7
BRCA2 c.156_157insAlu Founder Variant in Northern Portugal: An Insight Into Hereditary Breast and Ovarian Cancer Genetic Risk and Management	7
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum	7
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome	7
The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT	7
Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes	7
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools	7
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations	7
Putative founder effect of Arg338* AP4M1 ( SPG50	7
Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes—A Cohort Study on Clinical Utility	7
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	7
Expanding the Phenotypic Spectrum of ERLIN1 ‐Related SPG62 : Report of Two Siblings With Behaviora	7
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions	7
Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young C	7
	7
An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy	7
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	7
Patient perspective in perceived comparative genetic mutation risk: An exploratory review	7
MINPP1‐Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation	7
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness	7
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I	6
	6
A Novel Biallelic STN1 Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadeni	6
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	6
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding	6
Utility of Optical Genome Mapping in Repeat Disorders	6
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report	6
Highly Variable Expressivity of a CNV Deletion Involving TBX4	6
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism	6
Clinical and molecular spectrum of a large Egyptian cohort with ALS2 ‐related disorders of infanti	6
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia	6

Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF	6
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3 ‐Related Neurodevelopmental Diso	6
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expa	6
A bi‐allelic missense change c. 638A  > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without c	6
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human	6
Medical and psychosocial outcomes of state‐funded population genomic screening	6
Simplified detection of genetic background admixture using artificial intelligence	6
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other	6
	6
CCDC65 , encoding a component of the axonemal Nexin‐Dynein regulato	6
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome	6
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals	6
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	6
Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers	6
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest	6
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3<	6
Identification of copy‐number variants in patients with overgrowth disorders	6
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application	6
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants	6
	6
	6
Identification of Shared Genetic Loci Associated With Inflammatory Bowel Disease, Ischemic Heart Disease, and Atrial Fibrillation and Flutter	5
Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings	5
Dysferlinopathies: Clinical and genetic variability	5
Rare Cause 5q SMA : Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN	5
Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation	5
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease	5
	5
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome	5
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies	5
Estimation of familial recurrence risk of malignancy: Application of liability threshold model in genetic counseling	5
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest	5
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism	5
Evolutionary origin of pathogenic GJB2 alleles in China	5
Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations	5
Expansion of the phenotypic and molecular spectrum of CWF19L1 ‐related disorder	5
Revisiting TOP2B‐related phenotypes: Three new cases and literature review	5
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and faci	5
Functional Validation and Phenotypic Spectrum of Splice‐Site Variants in CHD7 ,	5
Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome	5
Genotype–Phenotype Correlations in SYNGAP1 ‐Related Mental Retardation Type 5	5
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder	5
Issue Information	5
Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature	5
The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT ca	5
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine	5
Sequence variants in DLX5 , HOXD13 and 445 kb‐microduplication surrounding BTRC	5
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome	5
ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism	5
First Report of a Novel Pathogenic Variant in the RREB1 Gene Associated With Obesity and Metabolic Syndrome	4
Issue Information	4
Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hea	4
Issue Information	4
	4
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4 ‐Related Dysplasia	4
Psychosocial Impacts of Huntington's Disease on Individuals, Relatives and Family Systems: A Thematic Synthesis	4
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study	4
NEUROMYODredger : Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries	4
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia	4
Common and rare variants in patients with early onset drusen maculopathy	4
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study	4
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgro	4
Elucidating the Genetic Underpinnings of Human Musculoskeletal System Aging Through Genomic Structural Equation Modeling	4
Issue Information	4
An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the s	4
Corrigendum	4
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics	4
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study	4
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage	4
Issue Information	4
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps	4
Haplotype Phasing of Biallelic WNT10B Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malfo	4
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility	4
Therapeutic strategies for aberrant splicing in cancer and genetic disorders	4
ROSAH syndrome mimicking chronic uveitis	4
	4
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants	4
Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction ( PIPO ) and brain devel	4
Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency	4
Issue Information	4
Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias	4
Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome	4
	4
Morphological and genetic causes of fetal cardiomyopathies	4
Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar	4
Issue Information	4
	4
Adult‐Onset Nephrotic Syndrome due to a Homozygous TNS2 Truncating Variant: Broadening the Mutational Spectrum	4
Genetic backgrounds and diagnosis of familial hypercholesterolemia	4
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns	4
CAMTA1 Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia	4
Genome‐Wide Association Study Reveals Genetic Architecture of Common Epilepsies	4
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype	4
Motivations to learn genomic information are not exceptional: Lessons from behavioral science	4
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?	4