Clinical Genetics

Article	Citations
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Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	36
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	33
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	31
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	30
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	29
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	29
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	28
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	27
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	27
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	25
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	23
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	23
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	22
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	20
Diagnostic yield of genetic testing in 324 infants with hypotonia	20
Issue Information	19
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	19
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	18
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	18
Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model	18
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry	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	17
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	17

Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity	16
Genetic counseling and testing for hereditary hemorrhagic telangiectasia	16
“I have to start learning how to live with becoming sick”: A scoping review of the lived experiences of people with Huntington's disease	16
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	16
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	16
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum	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
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	16
Issue Information	15
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands	15
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability	15
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder	15
Issue Information	14
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly	14
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach	14
Quantification of Lateralized Overgrowth and Genotype‐Driven Tissue Composition	14
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease	14
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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	13
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China	13
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility	13
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses	13
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population	13
Novel biallelic variants expand the phenotype of NAA20‐related syndrome	13
Issue Information	13
Bi‐allelic variants in MDH2: Expanding the clinical phenotype	13
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile	13
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants	13
Triploid pregnancy–Clinical implications	12
The importance of precision medicine in modern molecular oncology	12
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase	12
Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals	12
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	12
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis	12
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing	12
A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response	11
Identifying candidate genes underlying isolated congenital anosmia	11
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Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population	11
Discovering the ANK2‐related autism phenotype	11
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia	11
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant	11
Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review	11
Issue Information	11
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Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment	11
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family	11
Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype	11
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing	11
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10‐Related Neurodevelopmental Disorder	11

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes	11
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases	11
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De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia	11
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome	11
Copy number variations in SPAST and ATL1 are rare among Brazilians	10
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder	10
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review	10
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy	10
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy	10
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination	10
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil	10
A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features	10
Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review	10
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis	9
Intrahepatic Cholestasis of Pregnancy: A Single‐Centre Whole‐Exome Sequencing Study in a Maltese Cohort	9
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine	9
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias	9
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype	9
CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation	9
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Limited Diagnostic Utility of PRDM10 Analysis in Birt–Hogg–Dubé Syndrome: Experience in 313 Consecutive Patients	9
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome	9
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome	9
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder	9
Progress on the study of Popeye domain‐containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis	9
Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review	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
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)	9
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder	9
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder	9
Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes	8
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	8
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	8
Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants	8
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings	8
RNF43 pathogenic Germline variant in a family with colorectal cancer	8
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1	8
Clinical utility of liquid biopsy in breast cancer: A systematic review	8
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools	8
The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT	8
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness	8
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability	8
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Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing	8
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Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	8
Issue Information	8
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?	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
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome	8
Issue Information	8
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects	8
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders	8
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system	7
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	7
Utility of Optical Genome Mapping in Repeat Disorders	7
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome	7
The Thai reference exome (T‐REx) variant database	7
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes	7
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype	7
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China	7
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum	7
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	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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A bi‐allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies	7
Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF	7
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene	7
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	7
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation	7
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families	7
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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	7
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome	7
Exome sequencing of familial adenomatous polyposis‐like individuals identifies both known and novel causative genes	7
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies	7

Patient perspective in perceived comparative genetic mutation risk: An exploratory review	7
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	7
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia	6
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Genotype–Phenotype Correlations in SYNGAP1‐Related Mental Retardation Type 5	6
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition	6
Simplified detection of genetic background admixture using artificial intelligence	6
Identification of copy‐number variants in patients with overgrowth disorders	6
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus	6
Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings	6
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome	6
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals	6
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies	6
Mitochondrial tRNAHismutation (m.12158A > G) associated with MELAS syndrome	6
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application	6
Issue Information	6
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities	6
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology	6
Identification of Shared Genetic Loci Associated With Inflammatory Bowel Disease, Ischemic Heart Disease, and Atrial Fibrillation and Flutter	6
CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans	6
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Dysferlinopathies: Clinical and genetic variability	6
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder	6
Estimation of familial recurrence risk of malignancy: Application of liability threshold model in genetic counseling	6
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome	6
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism	6
ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism	6
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report	6
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features	5
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease	5
Issue Information	5
Molecular autopsy by proxy in preconception counseling	5
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?	5
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study	5
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Evolutionary origin of pathogenic GJB2 alleles in China	5
Issue Information	5
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants	5
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine	5
Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation	5
An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum	5
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants	5
Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families	5
Elucidating the Genetic Underpinnings of Human Musculoskeletal System Aging Through Genomic Structural Equation Modeling	5
Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency	5
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia	5
Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection	5
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest	5
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human	5
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study	5
The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa	5
Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations	5
Revisiting TOP2B‐related phenotypes: Three new cases and literature review	5
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism	5
Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction (PIPO) and brain developmental defects	5
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype	5
Medical and psychosocial outcomes of state‐funded population genomic screening	5