Clinical Genetics

Article	Citations
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center	73
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review	47
Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive review	45
A review on age‐related cancer risks in PTEN hamartoma tumor syndrome	45
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease	37
Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice	35
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility	30
The Thai reference exome (T‐REx) variant database	28
Out‐of‐pocket and private pay in clinical genetic testing: A scoping review	27
ANKRD11 variants: KBG syndrome and beyond	26
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients	25
A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement	24
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure	24
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders	24
Tooth agenesis: What do we know and is there a connection to cancer?	23
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing	23
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome	22
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!	22
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing	22
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome	20
The evolution of the nosology of osteogenesis imperfecta	20
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China	19
Kidney failure in Bardet–Biedl syndrome	19
Prenatal exome sequencing: A useful tool for the fetal neurologist	19
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy	19

Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross‐sectional survey of health professionals	19
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human	19
Clinical and genetic characterization of CACNA1A‐related disease	18
Dynamic interplay of microRNA in diseases and therapeutic	18
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results	18
Inflammatory factors, genetic variants, and predisposition for preterm birth	17
Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan	17
Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia	17
Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta‐analysis	17
Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China	17
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	17
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity	16
Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella	16
Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction	15
Triploid pregnancy–Clinical implications	15
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies	15
Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review	15
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy	15
An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene	15
Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort	15
Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia	14
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study	14
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes	14
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses	13
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum	13
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials	13
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement	13
Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74	13
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2	13
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities	13
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings	13
Fragile X premutation and associated health conditions: A review	13
Genetic overview of postaxial polydactyly: Updated classification	13
A rare disease and education: Neurofibromatosis type 1 decreases educational attainment	13
Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date	13
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients	12
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?	12
Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family	12
Clinical utility of liquid biopsy in breast cancer: A systematic review	12
Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand	12
Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features	12
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities	12
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects	12
The genetic underpinnings of anthracycline‐induced cardiomyopathy predisposition	12
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome	11
Biallelic mutations in KATNAL2 cause male infertility due to oligo‐astheno‐teratozoospermia	11
Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond	11
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder	11
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative	11
Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans	11

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy	10
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes	10
A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novoPKD1 mutation	10
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects	10
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population	10
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations	10
Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children	10
Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures	10
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants inIMMTgene	10
A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability	10
Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations	10
A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25	10
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia	9
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study	9
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium	9
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	9
Heterozygous NOTCH1 deletion associated with variable congenital heart defects	9
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes	9
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay	9
Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure	9
Disorders of histone methylation: Molecular basis and clinical syndromes	9
The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa	9
A homozygous loss‐of‐function mutation in FBXO43 causes human non‐obstructive azoospermia	9
Dysferlinopathies: Clinical and genetic variability	9
Risk of genetic and epigenetic alteration in children conceived following ART: Is it time to return to nature whenever possible?	9
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study	9
Psychiatric genetic counseling for people with copy number variants associated with psychiatric conditions	9
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia	8
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1	8
Bi‐allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport	8
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome	8
The importance of precision medicine in modern molecular oncology	8
PSMC1 variant causes a novel neurological syndrome	8
A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth	8
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing	8
Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome	8
Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals	8
Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1	8
Systemic inflammatory syndrome in children with FARSA deficiency	8
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder	8
Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system	8
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene	8
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis	8
Expanding the phenotype of DNAJC30‐associated Leigh syndrome	8
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum	8
Identifying biomarkers for prenatal diagnosis of neural tube defects based on “omics”	8
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease	8
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third	8
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques	8
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy	7
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities ‐ Renal Asian Genetics Network (DRAGoN)	7
Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women	7
PIK3CA somatic mutations as potential biomarker for immunotherapy in elder or TP53 mutated gastric cancer patients	7
Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition	7
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants	7
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis	7
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century	7
Current and experimental therapeutics for Fabry disease	7
Progress on the role of extrachromosomal DNA in tumor pathogenesis and evolution	7
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay	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
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest	7
Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study	7
El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype	7
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome	7
Selective forces acting on spinocerebellar ataxia type 3/Machado–Joseph disease recurrency: A systematic review and meta‐analysis	7
Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease	7
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort	7
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder	7
Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran	7
Bi‐allelic variants in MDH2: Expanding the clinical phenotype	7
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6	7
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database	7
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype	7
“I have to start learning how to live with becoming sick”: A scoping review of the lived experiences of people with Huntington's disease	6
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia	6
Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive	6
A X‐linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria‐like phenotypes	6
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy	6

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia	6
Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection	6
Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency	6
Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in theAPOEgene	6
Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients	6
GCH1 mutations in hereditary spastic paraplegia	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
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome	6
A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options	6
A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome	6
Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis	6
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing	6
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene	6
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3	6
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings	6
Genetic counseling and testing for hereditary hemorrhagic telangiectasia	6
Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome	6
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations	6
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins	6
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants	6
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder	6
Congenital ataxia due to novel variant in ATP8A2	6
Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset	6
Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications	6
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands	6
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects	5
Genetic backgrounds and diagnosis of familial hypercholesterolemia	5
COG1‐congenital disorders of glycosylation: Milder presentation and review	5
Diamond‐Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1	5
Novel biallelic variants expand the phenotype of NAA20‐related syndrome	5
A new SMOC2 mutation within selective tooth agenesis, malformed teeth and dentin dysplasia	5
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making	5
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis	5
The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations	5
A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family	5
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing	5
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females	5
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation	5
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype	5
Molecular genetics of inherited retinal degenerations in Icelandic patients	5
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum	5
Molecular autopsy by proxy in preconception counseling	5
Pathogenic variant‐based preconception carrier screening in the Israeli Jewish population	5
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature	5
Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome	5
Expanding the phenotype of SETD5‐related disorder and presenting a novel association with bone fragility	5
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein	5
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype	5
Nomograms for prognostic risk assessment in glioblastoma multiforme: Applications and limitations	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
RNF43 pathogenic Germline variant in a family with colorectal cancer	5
Pathogenic variants of ATG4D in infertile men with non‐obstructive azoospermia identified using whole‐exome sequencing	5
Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2‐related schwannomatosis	5
A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases	5
Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review	5
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study	5
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition	5
Health‐related quality of life in adults with osteogenesis imperfecta	5
Divergent variant patterns among 19 patients withRubinstein‐Taybisyndrome uncovered by comprehensive genetic analysis including whole genome sequencing	5
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene	5
New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage	5
Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness	5
QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum	5
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum	5
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face	5
Support to caregivers who have received genetic information about neurodevelopmental and psychiatric vulnerability in their young children: A narrative review	5
CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans	4
Novel CNNM4 variant and clinical features of Jalili syndrome	4
CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features	4
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients	4
Diagnostic yield of genetic testing in 324 infants with hypotonia	4
Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review	4
Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study	4
IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain	4
Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand	4
Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis	4
Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation	4
Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: A longitudinal study	4
Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene	4
Congenital cervical spine malformation due to bi‐allelic RIPPLY2 variants in spondylocostal dysostosis type 6	4
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis	4
HINT1 neuropathy: Expanding the genotype and phenotype spectrum	4
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2	4
Null variants in DYSF result in earlier symptom onset	4
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia	4
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype	4
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum	4
A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly	4
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1	4
Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome	4
Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability	4
Psychosocial interventions and needs among individuals and families with Li‐Fraumeni syndrome: A scoping review	4
A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay	4
Six case reports of NTHL1‐associated tumor syndrome further support it as a multi‐tumor predisposition syndrome	4