Clinical Genetics

Article	Citations
	58
Correction to “ SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymp	45
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	37
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Rus	34
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	32
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	31
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance	30
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	29
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	27
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia	24
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	24
Novel Variants in PTPN11 , NF1	24
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	23
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy	22
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	22
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MO	21
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	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 cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with M arfan syndrom	20
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita	19
Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila	19
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry	19
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis	18
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	18

Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing	18
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for	17
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	17
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	17
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	16
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder	16
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	16
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	16
Expanding Spectrum of FIG4 ‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report a	16
Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility	15
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China	15
Kinesin family member 12 ‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase	15
Novel biallelic variants expand the phenotype of NAA20‐related syndrome	15
BRCA1‐associated protein 1 : Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	15
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Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach	14
Issue Information	14
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Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease	14
Quantification of Lateralized Overgrowth and Genotype‐Driven Tissue Composition	14
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability	14
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants	14
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population	13
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile	13
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing	13
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis	13
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly	13
RePOWER : An International, Prospective, Non‐Interventional Registry of Patients With Primary Mitochondrial Myopathy	13
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing	12
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	12
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly	12
ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype	12
Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review	12
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility	12
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Issue Information	11
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases	11
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes	11
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration	11
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy	11
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Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment	11
A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic	11
Using Exome Sequencing to Identify the Causes of Neurodevelopmental Disorders: Experience of a North African Genetic Center	11
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review	11
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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype	11
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family	11
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil	11
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D ‐related neurodevelopmental di	11

Mitochondrial DNA Depletion Syndrome 1 ( MTDPS1 )—A Novel Cause of Premature Ovarian Insufficiency	11
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Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit ( GSS )	10
A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response	10
FGF9 variant in 46, XY DSD patient suggests a role for dimerization in sex determination	10
Discovering the ANK2 ‐related autism phenotype	10
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic	10
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome	10
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10 ‐Related Neurodevelopmental Disorder	10
De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia	10
Comprehensive Assessment of the KDM2B ‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome	10
Copy number variations in SPAST and ATL1 are rare among Brazilians	10
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CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation	10
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia	10
Identifying candidate genes underlying isolated congenital anosmia	10
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT : 31 Pediatric Patients and 16 Novel Variants	10
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1	9
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenes	9
Issue Information	9
Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early‐Onset Neurodegenerative	9
Craniofacial Dysmorphology Associated With Phelan– McDermid Syndrome Using Three‐Dimensional Morphometrics	9
Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population	9
Homozygous LZTR1 Variant Lacking the Second BTB	9
Issue Information	9
Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review	9
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis	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
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias	9
Genotype–Phenotype Correlations in Chinese Pediatric Patients With Single Large‐Scale Mitochondrial DNA Deletion Disorders	9
LONP1 Variants Are Associated With Clinically Diverse Phenotypes	9
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes	9
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	8
Genotype–Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study	8
Founder Variants of the Turkish	8
Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young C	8
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects	8
Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes	8
Issue Information	8
Intrahepatic Cholestasis of Pregnancy: A Single‐Centre Whole‐Exome Sequencing Study in a Maltese Cohort	8
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome	8
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions	8
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability	8
Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified S	8
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Progress on the study of Popeye domain‐containing 3 ( POPDC3 ) in malignancies and striated muscle function and homeostasis	8
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing	8
Issue Information	8
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome	8
Clinical Feasibility of Long‐Read WGS for DNA Methylation Signature Analysis	7
Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay	7
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders	7
Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac	7
A Novel Biallelic STN1 Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadeni	7
Patient perspective in perceived comparative genetic mutation risk: An exploratory review	7
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	7
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations	7
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita	7
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome	7
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools	7
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II : The First Western Patient With LYSET	7
MINPP1 ‐Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Ph	7
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	7
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	7
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	7
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum	7
Expanding the Phenotypic Spectrum of ERLIN1 ‐Related SPG62 : Report of Two Siblings With Behaviora	7
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness	7
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	7
How Has the Rise of Direct‐To‐Consumer Genetic Testing Impacted Genetic Counselling Practice? A Scoping Review	7
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum	7
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest	7
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Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning	6
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome	6
Unraveling the Role of WDR91 : Case Report of a Previously Unrecognized Clinical Entity	6
Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes—A Cohort Study on Clinical Utility	6

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormaliti	6
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia	6
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Collagen Deposition in Tuberous Sclerosis Complex Is Driven Through KDM6A‐Mediated Activation of ERK/SNAI1 Signaling	6
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	6
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation	6
A bi‐allelic missense change c. 638A  > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without c	6
Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene:	6
Clinical and Molecular Portraits of Pediatric RASopathies : A Study of 118 Genotype‐Confirmed Cases	6
Putative founder effect of Arg338* AP4M1 ( SPG50	6
Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF	6
Clinical and molecular spectrum of a large Egyptian cohort with ALS2 ‐related disorders of infanti	6
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding	6
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I	6
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3 ‐Related Neurodevelopmental Diso	6
Clinical Analysis of SYNGAP1 Variant‐Related Neurodevelopmental Disorders in Chinese Children	6
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals	6
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3<	6
BRCA2 c.156_157insAlu Founder Variant in Northern Portugal: An Insight Into Hereditary Breast and Ovarian Cancer Genet	6
An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy	6
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RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants	6
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CCDC65 , encoding a component of the axonemal Nexin‐Dynein regulato	6
Utility of Optical Genome Mapping in Repeat Disorders	6
Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers	6
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other	5
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome	5
ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism	5
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome	5
Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation	5
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?	5
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease	5
Genotype–Phenotype Correlations in SYNGAP1 ‐Related Mental Retardation Type 5	5
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Functional Validation and Phenotypic Spectrum of Splice‐Site Variants in CHD7 ,	5
Sequence variants in DLX5 , HOXD13 and 445 kb‐microduplication surrounding BTRC	5
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report	5
Identification of Shared Genetic Loci Associated With Inflammatory Bowel Disease, Ischemic Heart Disease, and Atrial Fibrillation and Flutter	5
Identification of copy‐number variants in patients with overgrowth disorders	5
Dysferlinopathies: Clinical and genetic variability	5
ROSAH syndrome mimicking chronic uveitis	5
Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency	5
Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations	5
Motivations to learn genomic information are not exceptional: Lessons from behavioral science	5
DNA methylation signature classification of rare disorders using publicly available methylation data	5
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies	5
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism	5
Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G	5
Rare Cause 5q SMA : Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN	5
Simplified detection of genetic background admixture using artificial intelligence	5
Medical and psychosocial outcomes of state‐funded population genomic screening	5
Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings	5
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application	5
Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction ( PIPO ) and brain devel	5
The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT ca	5
Elucidating the Genetic Underpinnings of Human Musculoskeletal System Aging Through Genomic Structural Equation Modeling	5
Expansion of the phenotypic and molecular spectrum of CWF19L1 ‐related disorder	5
Highly Variable Expressivity of a CNV Deletion Involving TBX4	5
Revisiting TOP2B‐related phenotypes: Three new cases and literature review	5
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism	5
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and faci	5
Risk of genetic and epigenetic alteration in children conceived following ART : Is it time to return to nature whenever possible?	4
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant	4
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant	4
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyo	4
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Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma	4
Adult‐Onset Nephrotic Syndrome due to a Homozygous TNS2 Truncating Variant: Broadening the Mutational Spectrum	4
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage	4
Generation and Auditory Phenotypic Characterization of Prps1 p. Ala87Thr Mouse Knock‐In Model for Human DFNX1	4
Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hea	4
Intratumor heterogeneity in colorectal cancer: Distribution of tumor suppressor gene variants with regard to patient lymph node status	4
GAA‐ FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia	4
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures	4
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps	4
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish	4
Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Nov	4
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia	4
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Genome‐Wide Association Study Reveals Genetic Architecture of Common Epilepsies	4
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia	4
Nomograms for prognostic risk assessment in glioblastoma multiforme: Applications and limitations	4
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study	4
A Unique Case of MBD5 and CCM2	4
RIPOR2 : A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models	4
Issue Information	4
A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85‐Associated Steroid‐Resistant Nephrotic Syndrome	4
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression	4
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic	4
Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias	4
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4 ‐Related Dysplasia	4
Genetic Underpinnings of Oligoasthenoteratozoospermia	4