Clinical Genetics

Article	Citations
	53
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	48
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance	42
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy	36
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	35
Correction to “ SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymp	34
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	28
Novel Variants in PTPN11 , NF1	26
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia	26
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	26
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MO	25
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	23
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	23
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	23
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	22
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	21
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	21
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Rus	20
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	19
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	19
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	18
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	18
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry	18
BRCA1‐associated protein 1 : Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	17
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder	17

Kinesin family member 12 ‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase	17
A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with M arfan syndrom	17
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	17
Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila	16
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	16
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita	16
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	15
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	15
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	15
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis	15
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for	15
Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing	14
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Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing	14
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability	14
ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype	13
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis	13
Mutations in LRP5 and BMP4	13
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease	13
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants	13
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing	13
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Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach	13
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population	13
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Novel biallelic variants expand the phenotype of NAA20‐related syndrome	12
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	12
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility	12
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly	12
RePOWER : An International, Prospective, Non‐Interventional Registry of Patients With Primary Mitochondrial Myopathy	12
Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review	12
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China	12
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile	12
Quantification of Lateralized Overgrowth and Genotype‐Driven Tissue Composition	12
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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype	11
Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment	11
Mitochondrial DNA Depletion Syndrome 1 ( MTDPS1 )—A Novel Cause of Premature Ovarian Insufficiency	11
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Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases	11
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family	11
A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic	11
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Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D ‐related neurodevelopmental di	11
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes	11
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT : 31 Pediatric Patients and 16 Novel Variants	11
FGF9 variant in 46, XY DSD patient suggests a role for dimerization in sex determination	10
Identifying candidate genes underlying isolated congenital anosmia	10

Copy number variations in SPAST and ATL1 are rare among Brazilians	10
De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia	10
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy	10
Using Exome Sequencing to Identify the Causes of Neurodevelopmental Disorders: Experience of a North African Genetic Center	10
Comprehensive Assessment of the KDM2B ‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome	10
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration	10
Discovering the ANK2 ‐related autism phenotype	10
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil	10
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome	10
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review	10
A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response	10
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia	10
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10 ‐Related Neurodevelopmental Disorder	10
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Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	9
Craniofacial Dysmorphology Associated With Phelan– McDermid Syndrome Using Three‐Dimensional Morphometrics	9
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenes	9
CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation	9
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit ( GSS )	9
LONP1 Variants Are Associated With Clinically Diverse Phenotypes	9
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Genotype–Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study	9
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis	9
Progress on the study of Popeye domain‐containing 3 ( POPDC3 ) in malignancies and striated muscle function and homeostasis	9
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorde	9
Limited Diagnostic Utility of PRDM10 Analysis in Birt–Hogg–Dubé Syndrome: Experience in 313 Consec	9
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Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population	9
Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review	9
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic	9
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias	9
Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early‐Onset Neurodegenerative	9
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum	8
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects	8
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing	8
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Genotype–Phenotype Correlations in Chinese Pediatric Patients With Single Large‐Scale Mitochondrial DNA Deletion Disorders	8
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome	8
Intrahepatic Cholestasis of Pregnancy: A Single‐Centre Whole‐Exome Sequencing Study in a Maltese Cohort	8
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders	8
Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified S	8
Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay	8
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Homozygous LZTR1 Variant Lacking the Second BTB	8
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Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability	8
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome	8
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Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes	8
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1	8
Founder Variants of the Turkish	8
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes	8
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools	8
Expanding the Phenotypic Spectrum of ERLIN1 ‐Related SPG62 : Report of Two Siblings With Behaviora	7
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II : The First Western Patient With LYSET	7
Clinical Feasibility of Long‐Read WGS for DNA Methylation Signature Analysis	7
An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy	7
Patient perspective in perceived comparative genetic mutation risk: An exploratory review	7
A Novel Biallelic STN1 Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadeni	7
Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac	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
Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes—A Cohort Study on Clinical Utility	7
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest	7
How Has the Rise of Direct‐To‐Consumer Genetic Testing Impacted Genetic Counselling Practice? A Scoping Review	7
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome	7
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness	7
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Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	7
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	7
MINPP1 ‐Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Ph	7
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Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations	6
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum	6
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	6
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	6
Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning	6
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation	6
Clinical and molecular spectrum of a large Egyptian cohort with ALS2 ‐related disorders of infanti	6

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome	6
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I	6
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Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3 ‐Related Neurodevelopmental Diso	6
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	6
CCDC65 , encoding a component of the axonemal Nexin‐Dynein regulato	6
Utility of Optical Genome Mapping in Repeat Disorders	6
Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF	6
Collagen Deposition in Tuberous Sclerosis Complex Is Driven Through KDM6A‐Mediated Activation of ERK/SNAI1 Signaling	6
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia	6
A bi‐allelic missense change c. 638A  > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without c	6
Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers	6
Unraveling the Role of WDR91 : Case Report of a Previously Unrecognized Clinical Entity	6
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	6
Putative founder effect of Arg338* AP4M1 ( SPG50	6
BRCA2 c.156_157insAlu Founder Variant in Northern Portugal: An Insight Into Hereditary Breast and Ovarian Cancer Genet	6
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Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3<	6
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding	6
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals	6
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype	5
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Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study	5
ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism	5
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other	5
Functional Validation and Phenotypic Spectrum of Splice‐Site Variants in CHD7 ,	5
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and faci	5
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome	5
Clinical Analysis of SYNGAP1 Variant‐Related Neurodevelopmental Disorders in Chinese Children	5
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants	5
Identification of Shared Genetic Loci Associated With Inflammatory Bowel Disease, Ischemic Heart Disease, and Atrial Fibrillation and Flutter	5
Highly Variable Expressivity of a CNV Deletion Involving TBX4	5
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants	5
ROSAH syndrome mimicking chronic uveitis	5
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism	5
Medical and psychosocial outcomes of state‐funded population genomic screening	5
Dysferlinopathies: Clinical and genetic variability	5
Identification of copy‐number variants in patients with overgrowth disorders	5
Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G	5
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application	5
Estimation of familial recurrence risk of malignancy: Application of liability threshold model in genetic counseling	5
Simplified detection of genetic background admixture using artificial intelligence	5
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Genotype–Phenotype Correlations in SYNGAP1 ‐Related Mental Retardation Type 5	5
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DNA methylation signature classification of rare disorders using publicly available methylation data	5
Revisiting TOP2B‐related phenotypes: Three new cases and literature review	5
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies	5
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism	5
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report	5
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome	5
Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings	5
Rare Cause 5q SMA : Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN	5
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder	5
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human	5
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine	5
Haplotype Phasing of Biallelic WNT10B Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malfo	4
Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias	4
Expansion of the phenotypic and molecular spectrum of CWF19L1 ‐related disorder	4
Adult‐Onset Nephrotic Syndrome due to a Homozygous TNS2 Truncating Variant: Broadening the Mutational Spectrum	4
Evolutionary origin of pathogenic GJB2 alleles in China	4
Sequence variants in DLX5 , HOXD13 and 445 kb‐microduplication surrounding BTRC	4
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4 ‐Related Dysplasia	4
RIPOR2 : A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models	4
Intratumor heterogeneity in colorectal cancer: Distribution of tumor suppressor gene variants with regard to patient lymph node status	4
Genetic Underpinnings of Oligoasthenoteratozoospermia	4
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant	4
Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar	4
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgro	4
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns	4
Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations	4
Genome‐Wide Association Study Reveals Genetic Architecture of Common Epilepsies	4
The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT ca	4
Genetic backgrounds and diagnosis of familial hypercholesterolemia	4
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Common and rare variants in patients with early onset drusen maculopathy	4
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic	4
Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma	4
A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85‐Associated Steroid‐Resistant Nephrotic Syndrome	4
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NEUROMYODredger : Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries	4
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps	4
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Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia	4
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics	4
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?	4
Motivations to learn genomic information are not exceptional: Lessons from behavioral science	4
Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation	4
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage	4
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia	4
Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hea	4
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish	4
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