Clinical Genetics

Article	Citations
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE	73
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center	65
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review	40
A review on age‐related cancer risks in PTEN hamartoma tumor syndrome	39
Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive review	37
Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes	32
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome	31
New insight into the role of substance P/neurokinin‐1 receptor system in breast cancer progression and its crosstalk with microRNAs	29
Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects	29
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology	28
A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family	28
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature	28
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility	26
Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella	26
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late	25
HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome	25
Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort	25
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease	25
The Thai reference exome (T‐REx) variant database	24
Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice	23
Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa	23
Prenatal exome sequencing in fetuses with congenital heart defects	23
Premature aging disorders: A clinical and genetic compendium	23
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss	22
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay	22

ANKRD11 variants: KBG syndrome and beyond	21
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders	21
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing	21
Out‐of‐pocket and private pay in clinical genetic testing: A scoping review	21
A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement	21
Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest	20
Tooth agenesis: What do we know and is there a connection to cancer?	20
Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency	20
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients	20
PGT‐A preimplantation genetic testing for aneuploidies and embryo selection in routine ART cycles: Time to step back?	19
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome	19
Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability	18
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis	18
The evolution of the nosology of osteogenesis imperfecta	18
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency	18
Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset	18
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing	17
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications	17
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure	17
Primrose syndrome: Characterization of the phenotype in 42 patients	17
Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan	17
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!	17
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing	17
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome	17
Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia	16
Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia	16
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene	16
Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross‐sectional survey of health professionals	15
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy	15
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1	15
Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort	14
Epigenetic variations due to nutritional status in early‐life and its later impact on aging and disease	14
Dynamic interplay of microRNA in diseases and therapeutic	14
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China	14
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results	14
Prenatal exome sequencing: A useful tool for the fetal neurologist	14
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies	13
Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review	13
Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy	13
Kidney failure in Bardet–Biedl syndrome	13
Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China	13
Inflammatory factors, genetic variants, and predisposition for preterm birth	13
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia	13
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes	13
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study	13
An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene	13
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2	13
A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis	13
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities	12
Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta‐analysis	12

Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies	12
High prevalence of Bardet‐Biedl syndrome in La RéunionIsland is due to a founder variant in ARL6/BBS3	12
Ethical questions concerning newborn genetic screening	12
Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction	12
Fragile X premutation and associated health conditions: A review	12
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials	12
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings	12
Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74	12
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity	12
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities	12
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum	11
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly	11
Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand	11
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?	11
Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations	11
Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia	11
An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes	11
The role of long non‐coding RNAs in drug resistance of cancer	11
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights	11
Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study	11
A rare disease and education: Neurofibromatosis type 1 decreases educational attainment	11
Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond	11
Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3	11
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features	11
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses	11
ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype	10
A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans	10
Biallelic mutations in KATNAL2 cause male infertility due to oligo‐astheno‐teratozoospermia	10
Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling	10
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy	10
Clinical utility of liquid biopsy in breast cancer: A systematic review	10
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder	10
Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date	10
Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features	10
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity	10
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations	10
A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novoPKD1 mutation	10
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human	10
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects	10
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy	10
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome	10
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients	9
Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review	9
Genetic overview of postaxial polydactyly: Updated classification	9
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes	9
Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures	9
Age of onset and behavioral manifestations in Huntington's disease: An Enroll‐HD cohort analysis	9
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay	9
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement	9
Genetics of feline hypertrophic cardiomyopathy	9
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects	9
Clinical and genetic characterization of CACNA1A‐related disease	9
A strategy using SNP linkage analysis for monogenic diseases PGD combined with HLA typing	9
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants	9
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes	9
Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies	9
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy	9
Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children	9
A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate	9
Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family	9
Next‐generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population	8
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review	8
A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25	8
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants	8
Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella	8
MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort	8
COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development	8
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	8
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy	8
A homozygous loss‐of‐function mutation in FBXO43 causes human non‐obstructive azoospermia	8
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants inIMMTgene	8
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study	8
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum	8
Triploid pregnancy–Clinical implications	8
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder	8
Clinical and radiological characterization of novel FIG4‐related combined system disease with neuropathy	8
Risk of genetic and epigenetic alteration in children conceived following ART: Is it time to return to nature whenever possible?	8
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative	8
Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step‐up	8
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium	7

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population	7
Psychosis in NUS1 de novo mutation: New phenotypical presentation	7
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial	7
The importance of precision medicine in modern molecular oncology	7
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest	7
El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype	7
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study	7
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder	7
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing	7
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the R	7
Heterozygous NOTCH1 deletion associated with variable congenital heart defects	7
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy	7
Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1	7
Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans	7
Genetic disorders with central nervous system white matter abnormalities: An update	7
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy	7
Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome	7
A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration	7
Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family	7
A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability	7
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum	7
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients	7
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins	6
Identifying biomarkers for prenatal diagnosis of neural tube defects based on “omics”	6
Dysferlinopathies: Clinical and genetic variability	6
A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis	6
Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice	6
The genetic underpinnings of anthracycline‐induced cardiomyopathy predisposition	6
Progress on the role of extrachromosomal DNA in tumor pathogenesis and evolution	6
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	6
Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women	6
Disorders of histone methylation: Molecular basis and clinical syndromes	6
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria	6
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3	6
Systemic inflammatory syndrome in children with FARSA deficiency	6
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis	6
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome	6
Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications	6
Selective forces acting on spinocerebellar ataxia type 3/Machado–Joseph disease recurrency: A systematic review and meta‐analysis	6
Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure	6
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay	6
Parkes‐Weber syndrome related to RASA1 mosaic mutation	6
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants	6
Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals	6
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands	6
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third	6
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system	6
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population	6
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities ‐ Renal Asian Genetics Network (DRAGoN)	6
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings	6
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations	6
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease	5
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder	5
Divergent variant patterns among 19 patients withRubinstein‐Taybisyndrome uncovered by comprehensive genetic analysis including whole genome sequencing	5
GCH1 mutations in hereditary spastic paraplegia	5
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia	5
Current and experimental therapeutics for Fabry disease	5
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome	5
A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth	5
Siblings with a novel MED12 variant and Odho syndrome with immune defects	5
Expanding the phenotype of DNAJC30‐associated Leigh syndrome	5
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia	5
Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset	5
Bi‐allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport	5
Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study	5
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency	5
“I have to start learning how to live with becoming sick”: A scoping review of the lived experiences of people with Huntington's disease	5
Genetic counseling and testing for hereditary hemorrhagic telangiectasia	5
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques	5
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype	5
The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa	5
A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome	5
Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result	5
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia	5
A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract	5
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome	5
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype	5
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis	5
A novel splice site variant in the POPDC3 causes autosomal recessive limb‐girdle muscular dystrophy type 26	5
Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3	5
Combined in vitro and in silico analyses of FGFR1 variants: genotype‐phenotype study in idiopathic hypogonadotropic hypogonadism	5
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort	5
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder	5
COG1‐congenital disorders of glycosylation: Milder presentation and review	5
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy	5