Clinical Genetics

Article	Citations
NKX2.1 run‐on mutation associated to familial brain–lung–thyroid syndrome	77
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The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy	28
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities	27
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene	26
Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia	24
Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia	24
Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome	24
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders	23
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Genetic profile of Brazilian patients with LAMA2‐related dystrophies	22
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Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques	22
Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome	22
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation	21
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Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient	19
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A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9	18
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Patient perspective in perceived comparative genetic mutation risk: An exploratory review	16

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function ASCC1 gene mutation in two Bulgarian Roma patients	15
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype	15
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Current and experimental therapeutics for Fabry disease	15
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines	14
A novel splice site variant in the POPDC3 causes autosomal recessive limb‐girdle muscular dystrophy type 26	14
The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant	14
Regulation of N6‐methyladenosine modification in erythropoiesis and thalassemia	13
Diagnostic yield of genetic testing in 324 infants with hypotonia	13
Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1	13
A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family	13
Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia	13
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A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease	13
Usmani‐Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant	13
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene	13
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Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants	13
Non‐dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients	12
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system	12
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain)	12
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Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China	12
Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey	12
Heritability of cancers in Japanese population: Estimation from recent cohort data	11
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses	11
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	11
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1	11
A progressive KY myopathy could be caused by a missense pathogenic variant	10
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia	10
Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene	10
Biallelic variants in PAX3 cause Klein syndrome	10
GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?	10
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?	10
From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age	10
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype	10
Mapping leprosy‐associated coding variants of interleukin genes by targeted sequencing	10
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant	10
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions	9
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3	9
Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: A longitudinal study	9
Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes	9
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families	9
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews	9
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype	9
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome	9
CATSHL syndrome, a new family and phenotypic expansion	9
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review	9
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients	9
A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly	9

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center	9
Forty‐seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs	9
Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis	8
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome	8
The genetic underpinnings of anthracycline‐induced cardiomyopathy predisposition	8
Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome	8
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Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?	8
Keratoconus in a patient with B3GALT6‐related disorder	8
Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system	8
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX	8
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum	8
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination	8
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century	8
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy	8
A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth	8
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency	8
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities	8
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil	8
Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder	8
BRCC3‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing	7
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review	7
Prenatal exome sequencing: A useful tool for the fetal neurologist	7
A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome	7
Correction to “SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”	7
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest	7
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome	7
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder	7
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations	7
A Novel De Novo Missense Variant in Netrin‐1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly	7
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	7
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome	7
Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome	7
A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non‐Syndromic Hearing Loss	7
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Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A‐Related Phenotypes	7
The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community	7
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features	7
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum	7
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1	7
Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome	7
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3	7
Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing	7
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines	7
De novo pathogenic DHX30 variants in two cases	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
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families	6
Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF	6
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR	6
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals	6
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype	6
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain	6
A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly	6
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study	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
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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	6
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits	6
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis	6
Functional analysis of the CTNS gene exonic variants predicted to affect splicing	6
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion	6
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis	6
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype	6
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome	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
Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants	6
The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome	6
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LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes	5
Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures	5
Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome	5
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay	5
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report	5
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%	5
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database	5
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome	5
SERPINA11 related novel serpinopathy – A perinatal lethal disorder	5
Divergent variant patterns among 19 patients withRubinstein‐Taybisyndrome uncovered by comprehensive genetic analysis including whole genome sequencing	5

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A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25	5
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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype	5
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Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature	5
The Thai reference exome (T‐REx) variant database	5
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants	5
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model	5
Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services	5
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third	5
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia	5
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity	5
ANKRD11 variants: KBG syndrome and beyond	5
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Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication	5
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Novel CNNM4 variant and clinical features of Jalili syndrome	5
Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation	5
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Outcomes of a universal germline screening program in a community urology practice	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
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity	5
Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay	5
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum	5
Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome	5
Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort	5
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology	5
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A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1	4
Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology	4
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management	4
“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
De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome	4
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients	4
The diagnosis of the first‐documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome	4
The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review	4
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Genetic Analysis of Heterotaxy in a Consanguineous Cohort	4
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy	4
GCH1 mutations in hereditary spastic paraplegia	4
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events	4
Exome sequencing of familial adenomatous polyposis‐like individuals identifies both known and novel causative genes	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
Loss‐of‐Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development	4
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Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder	4
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Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype	4
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa	4
Genetic screening in patients with ovarian dysfunction	4
The genetics of incontinence: A scoping review	4
Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis	4
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis	4
Development of disease‐specific growth charts for Korean children with Beckwith–Wiedemann syndrome	4
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark	4
Utility of Optical Genome Mapping in Repeat Disorders	4
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder	4
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants	4
Unusual Co‐Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies	4
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan	4
A homozygous loss‐of‐function mutation in FBXO43 causes human non‐obstructive azoospermia	4