Clinical Genetics

Article	Citations
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Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	37
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	33
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	30
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	30
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	26
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	26
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	26
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	26
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy	25
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	25
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism	24
Diagnostic yield of genetic testing in 324 infants with hypotonia	23
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	23
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing	22
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	22
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	20
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	19
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	19
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	18
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	18
“I have to start learning how to live with becoming sick”: A scoping review of the lived experiences of people with Huntington's disease	18
Issue Information	18
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	18
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder	17

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands	17
Genetic counseling and testing for hereditary hemorrhagic telangiectasia	16
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	16
Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model	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	15
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry	15
Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing	15
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum	15
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	15
The importance of precision medicine in modern molecular oncology	14
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity	14
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability	14
Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study	14
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Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease	13
Novel biallelic variants expand the phenotype of NAA20‐related syndrome	13
Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals	13
Triploid pregnancy–Clinical implications	13
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants	13
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis	13
Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review	13
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing	13
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility	13
Issue Information	12
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses	12
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly	12
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China	12
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach	12
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population	12
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing	12
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	12
Quantification of Lateralized Overgrowth and Genotype‐Driven Tissue Composition	12
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10‐Related Neurodevelopmental Disorder	11
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile	11
Bi‐allelic variants in MDH2: Expanding the clinical phenotype	11
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome	11
Heterozygous NOTCH1 deletion associated with variable congenital heart defects	11
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Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant	11
Identifying candidate genes underlying isolated congenital anosmia	11
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A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase	11
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Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes	10
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FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination	10
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family	10
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy	10
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil	10
Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype	10

Copy number variations in SPAST and ATL1 are rare among Brazilians	10
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases	10
De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia	10
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Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder	10
Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review	10
A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia	10
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype	9
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review	9
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias	9
Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population	9
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A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response	9
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder	9
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy	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
Discovering the ANK2‐related autism phenotype	9
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)	9
Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment	9
Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis	9
A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features	9
Progress on the study of Popeye domain‐containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis	8
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder	8
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability	8
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects	8
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings	8
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder	8
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	8
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders	8
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome	8
Limited Diagnostic Utility of PRDM10 Analysis in Birt–Hogg–Dubé Syndrome: Experience in 313 Consecutive Patients	8
Intrahepatic Cholestasis of Pregnancy: A Single‐Centre Whole‐Exome Sequencing Study in a Maltese Cohort	8
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness	8
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Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine	8
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1	8
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy	8
Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants	7
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome	7
Issue Information	7
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	7
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals	7
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome	7
Exome sequencing of familial adenomatous polyposis‐like individuals identifies both known and novel causative genes	7
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools	7
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest	7
Current and experimental therapeutics for Fabry disease	7
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	7
The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT	7
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing	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
Issue Information	7
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	7
Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS	7
Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF	7
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum	7
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum	7
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system	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
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China	7
RNF43 pathogenic Germline variant in a family with colorectal cancer	7
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum	7
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Clinical utility of liquid biopsy in breast cancer: A systematic review	7
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	7
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Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype	7
Patient perspective in perceived comparative genetic mutation risk: An exploratory review	7
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families	7
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	7
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation	7
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome	7
Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes	7
ANKRD11 variants: KBG syndrome and beyond	6
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome	6
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CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans	6
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome	6

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus	6
Estimation of familial recurrence risk of malignancy: Application of liability threshold model in genetic counseling	6
The Thai reference exome (T‐REx) variant database	6
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene	6
A bi‐allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies	6
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder	6
Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection	6
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Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes	6
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies	6
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia	6
Utility of Optical Genome Mapping in Repeat Disorders	6
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome	6
Identification of copy‐number variants in patients with overgrowth disorders	6
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report	6
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology	6
Genotype–Phenotype Correlations in SYNGAP1‐Related Mental Retardation Type 5	5
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human	5
Simplified detection of genetic background admixture using artificial intelligence	5
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features	5
An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum	5
Medical and psychosocial outcomes of state‐funded population genomic screening	5
Motivations to learn genomic information are not exceptional: Lessons from behavioral science	5
Nonsense‐mediated mRNA decay efficiency influences bleeding severity in ITGA2B c.2659C > T (p.Q887X) knock‐in mice	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
Evolutionary origin of pathogenic GJB2 alleles in China	5
Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings	5
Molecular autopsy by proxy in preconception counseling	5
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest	5
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies	5
Dysferlinopathies: Clinical and genetic variability	5
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism	5
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism	5
Revisiting TOP2B‐related phenotypes: Three new cases and literature review	5
Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family	5
Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families	5
ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism	5
Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia	5
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects	5
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application	5
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DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition	5
Issue Information	5
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?	5
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study	5
Morphological and genetic causes of fetal cardiomyopathies	5
Mitochondrial tRNAHismutation (m.12158A > G) associated with MELAS syndrome	5
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype	5
The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant	4
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease	4
Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations	4
Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency	4
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study	4
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns	4
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Common and rare variants in patients with early onset drusen maculopathy	4
DNA methylation signature classification of rare disorders using publicly available methylation data	4
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder	4
Genetic backgrounds and diagnosis of familial hypercholesterolemia	4
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Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction (PIPO) and brain developmental defects	4
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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	4
ROSAH syndrome mimicking chronic uveitis	4
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine	4
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants	4
The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa	4
Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation	4
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum	4
Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder	4
Molecular genetics of inherited retinal degenerations in Icelandic patients	4
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage	4