Clinical Genetics

Article	Citations
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Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	34
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	34
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	30
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	30
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis	29
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	29
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	26
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants	26
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	25
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	23
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	21
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	21
Diagnostic yield of genetic testing in 324 infants with hypotonia	19
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	18
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	18
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia	18
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	18
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	17
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	16
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	16
Issue Information	16
A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with Marfan syndrome. Psychological consequences in M	16
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	16
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	16

Genetic counseling and testing for hereditary hemorrhagic telangiectasia	16
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	15
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity	15
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands	15
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	15
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	15
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis	14
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder	14
Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model	14
Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing	14
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry	14
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	14
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly	13
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile	13
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease	13
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Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China	13
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Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing	13
Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review	13
Novel biallelic variants expand the phenotype of NAA20‐related syndrome	12
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis	12
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase	12
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing	12
Bi‐allelic variants in MDH2: Expanding the clinical phenotype	12
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants	12
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population	12
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	12
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses	12
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases	11
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia	11
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Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study	11
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach	11
Issue Information	11
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review	11
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family	11
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability	11
Quantification of Lateralized Overgrowth and Genotype‐Driven Tissue Composition	11
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Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population	11
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination	11
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility	11
Identifying candidate genes underlying isolated congenital anosmia	11
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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
Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype	10

Discovering the ANK2‐related autism phenotype	10
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy	10
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome	10
A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features	10
De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia	10
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant	10
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy	10
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis	9
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes	9
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	9
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT: 31 Pediatric Patients and 16 Novel Variants	9
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Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome	9
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine	9
Progress on the study of Popeye domain‐containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis	9
Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment	9
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder	9
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1	9
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder	9
Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review	9
CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation	9
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10‐Related Neurodevelopmental Disorder	9
A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response	9
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy	9
Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants	8
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders	8
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness	8
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias	8
Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early‐Onset Neurodegenerative Disorder With Cerebral Atrophy	8
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome	8
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype	8
Issue Information	8
Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes	8
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome	8
RNF43 pathogenic Germline variant in a family with colorectal cancer	8
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Intrahepatic Cholestasis of Pregnancy: A Single‐Centre Whole‐Exome Sequencing Study in a Maltese Cohort	8
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)	8
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Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects	8
Clinical utility of liquid biopsy in breast cancer: A systematic review	8
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Limited Diagnostic Utility of PRDM10 Analysis in Birt–Hogg–Dubé Syndrome: Experience in 313 Consecutive Patients	8
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder	8
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Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing	7
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation	7
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3‐Related Neurodevelopmental Disorder	7
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	7
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China	7
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	7
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families	7
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?	7
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum	7
The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT	7
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome	7
Patient perspective in perceived comparative genetic mutation risk: An exploratory review	7
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	7
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum	7
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum	7
Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers	7
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Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	7
Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function	7
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest	7
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools	7
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system	7
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity	7
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New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	7
An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy	7
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	7
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability	7
Expanding the Phenotypic Spectrum of ERLIN1‐Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis	7
A bi‐allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies	6
The Thai reference exome (T‐REx) variant database	6
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Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia	6
Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings	6

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies	6
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS	6
Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF	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
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report	6
Simplified detection of genetic background admixture using artificial intelligence	6
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Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome	6
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome	6
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype	6
CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans	6
Utility of Optical Genome Mapping in Repeat Disorders	6
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes	6
Genotype–Phenotype Correlations in SYNGAP1‐Related Mental Retardation Type 5	6
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies	6
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene	6
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest	5
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities	5
Medical and psychosocial outcomes of state‐funded population genomic screening	5
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition	5
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism	5
Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather	5
First Report of a Novel Pathogenic Variant in the RREB1 Gene Associated With Obesity and Metabolic Syndrome	5
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?	5
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Evolutionary origin of pathogenic GJB2 alleles in China	5
Dysferlinopathies: Clinical and genetic variability	5
ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism	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
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology	5
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia	5
Identification of Shared Genetic Loci Associated With Inflammatory Bowel Disease, Ischemic Heart Disease, and Atrial Fibrillation and Flutter	5
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A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility	5
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus	5
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome	5
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human	5
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder	5
Identification of copy‐number variants in patients with overgrowth disorders	5
Mitochondrial tRNAHismutation (m.12158A > G) associated with MELAS syndrome	5
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants	5
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants	5
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease	5
Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction (PIPO) and brain developmental defects	5
Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency	5
Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family	4
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns	4
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism	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
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Genome‐Wide Association Study Reveals Genetic Architecture of Common Epilepsies	4
An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum	4
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement	4
DNA methylation signature classification of rare disorders using publicly available methylation data	4
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum	4
ROSAH syndrome mimicking chronic uveitis	4
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration	4
Molecular autopsy by proxy in preconception counseling	4
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Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families	4
Genetic backgrounds and diagnosis of familial hypercholesterolemia	4
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine	4
Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder	4
Genetic Underpinnings of Oligoasthenoteratozoospermia	4
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NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries	4
The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant	4
Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma	4
Elucidating the Genetic Underpinnings of Human Musculoskeletal System Aging Through Genomic Structural Equation Modeling	4
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage	4
The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa	4
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Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype	4
Therapeutic strategies for aberrant splicing in cancer and genetic disorders	4
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study	4
Revisiting TOP2B‐related phenotypes: Three new cases and literature review	4
Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations	4
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Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB	4
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia	4
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps	4
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study	4
Common and rare variants in patients with early onset drusen maculopathy	4
Morphological and genetic causes of fetal cardiomyopathies	4
Haplotype Phasing of Biallelic WNT10B Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malformation Syndrome	4
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis	3
Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility	3
From Function to Mechanism: Unveiling the Role of Small Nucleolar Ribonucleic Acids in Digestive Tumours	3