Clinical Genetics

Article	Citations
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The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy	34
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene	33
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	30
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders	28
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques	26
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review	26
Genetic profile of Brazilian patients with LAMA2‐related dystrophies	26
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Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome	24
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation	22
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	21
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A Novel De Novo Missense Variant in Netrin‐1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly	19
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest	19
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations	19
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BRCC3‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing	17
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9	17
The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community	17
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	17
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Patient perspective in perceived comparative genetic mutation risk: An exploratory review	15
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Current and experimental therapeutics for Fabry disease	14
Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function ASCC1 gene mutation in two Bulgarian Roma patients	14
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	14
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Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency	13
Usmani‐Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant	13
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype	13
The genetic underpinnings of anthracycline‐induced cardiomyopathy predisposition	13
Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform	13
Regulation of N6‐methyladenosine modification in erythropoiesis and thalassemia	13
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX	13
The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant	13
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia	13
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder	13
Non‐dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients	12
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	12
Diagnostic yield of genetic testing in 324 infants with hypotonia	12
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Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene	12
A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease	12
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	12
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Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey	11
Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome	11
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain)	11
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system	11
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1	11
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China	11
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	10
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	10
GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?	10
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines	10
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	10
A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non‐Syndromic Hearing Loss	10
Biallelic variants in PAX3 cause Klein syndrome	10
Heritability of cancers in Japanese population: Estimation from recent cohort data	10
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	10
From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age	10
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews	9
CATSHL syndrome, a new family and phenotypic expansion	9
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	9
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes	9
A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly	9
Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene	9
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families	9
Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes	9

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome	9
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome	9
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?	9
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review	9
Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: A longitudinal study	9
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3	9
Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome	9
Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome	8
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort	8
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination	8
Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system	8
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	8
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	8
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	8
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy	8
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome	8
Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing	8
Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder	8
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Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis	8
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century	8
Prenatal exome sequencing: A useful tool for the fetal neurologist	7
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines	7
A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome	7
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum	7
A novel splice site variant in the POPDC3 causes autosomal recessive limb‐girdle muscular dystrophy type 26	7
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion	7
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Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia	7
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities	7
Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome	7
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients	7
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum	7
Unique Genetic Profiles in Hypertrophic Cardiomyopathy Patients From São Miguel Island (Azores, Portugal)	7
From Function to Mechanism: Unveiling the Role of Small Nucleolar Ribonucleic Acids in Digestive Tumours	7
A progressive KY myopathy could be caused by a missense pathogenic variant	7
A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family	7
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	7
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities	7
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	7
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant	7
Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients	7
Split Hand‐Foot Malformations—Unveiling Unique Molecular Diagnosis From a Brazilian Cohort	7
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Loss‐of‐Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development	7
The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome	6
Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)	6
The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families	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 infantile‐onset of clinical continuum IAHSP/JPLS	6
Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants	6
SERPINA11 related novel serpinopathy – A perinatal lethal disorder	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
Functional analysis of the CTNS gene exonic variants predicted to affect splicing	6
A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly	6
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype	6
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals	6
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity	6
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Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	6
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication	6
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants	6
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain	6
Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation	6
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families	6
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database	6
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR	6
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits	6
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis	6
Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures	6
De novo pathogenic DHX30 variants in two cases	6
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Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans	5
LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes	5
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia	5
Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort	5
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%	5
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome	5
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report	5

Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome	5
Large‐Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third‐Generation Sequencing	5
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Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology	5
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	5
Novel CNNM4 variant and clinical features of Jalili syndrome	5
Outcomes of a universal germline screening program in a community urology practice	5
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum	5
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology	5
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model	5
Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay	5
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third	5
Genetic screening in patients with ovarian dysfunction	5
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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype	5
Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings	5
A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease	5
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay	5
Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome	5
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	5
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes	5
CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features	5
Divergent variant patterns among 19 patients withRubinstein‐Taybisyndrome uncovered by comprehensive genetic analysis including whole genome sequencing	5
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	5
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“I have to start learning how to live with becoming sick”: A scoping review of the lived experiences of people with Huntington's disease	4
Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder	4
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A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1	4
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Genetic Analysis of Heterotaxy in a Consanguineous Cohort	4
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa	4
Exome sequencing of familial adenomatous polyposis‐like individuals identifies both known and novel causative genes	4
The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review	4
Genetic counseling and testing for hereditary hemorrhagic telangiectasia	4
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene	4
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank	4
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations	4
Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis	4
The diagnosis of the first‐documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome	4
A homozygous loss‐of‐function mutation in FBXO43 causes human non‐obstructive azoospermia	4
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events	4
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype	4
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder	4
Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand	4
Spermatozoa in mice lacking the nucleoporin NUP210L show defects in head shape and motility but not in nuclear compaction or histone replacement	4
Expanding the phenotype of SETD5‐related disorder and presenting a novel association with bone fragility	4
Development of disease‐specific growth charts for Korean children with Beckwith–Wiedemann syndrome	4
De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome	4
The genetics of incontinence: A scoping review	4
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	4
Utility of Optical Genome Mapping in Repeat Disorders	4
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan	4
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies	4
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark	4
A new SMOC2 mutation within selective tooth agenesis, malformed teeth and dentin dysplasia	4
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	4