Journal of Medical Genetics

Article	Citations
Next generation of free? Points to consider when navigating sponsored genetic testing	85
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	66
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	62
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	58
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus	57
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population	56
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis	49
Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings	46
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants	41
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	39
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia	37
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	35
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation	33
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans	33
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE st	32
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	32
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction	32
Histones: coming of age in Mendelian genetic disorders	31
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation	29
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	28
PSMD3 gene mutations cause pathological myopia	27
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome	27
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort	24
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	24
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	23

First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked	23
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study	23
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	22
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study	21
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	21
Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort	21
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	20
Targeting autophagy in Duchenne muscular dystrophy: mechanistic insights and emerging therapeutic strategies	19
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGe	19
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype	19
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	19
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition	19
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	18
Identification of MACF1 as a causative gene of generalised epilepsy	18
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	17
Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	17
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients	17
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington’s disease	17
Advances in research on the mechanism of tsRNA action in tumours	17
Authors’ response to the commentary by Kivela et al on Hany et al (2024)	16
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre	16
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	16
Homologous recombination deficiency in unselected cases of high-grade ovarian carcinoma	16
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme	16
Refining the phenotypic spectrum of PNKP -related microcephaly: a study of 27 new patients	16
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation	16
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines	16
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway	15
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	15
Expanded targeted preconception screening panel in Israel: findings and insights	15
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion	15
Genotype and phenotype correlation of PHACTR1-related neurological disorders	15
Complex structural variation and nonsense variant in trans cause VPS50-related disorder	14
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity	14
Six at Sixty. ‘No gain, no pain’: medical genetics taking Nav1.7 from target to pharmacy	14
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study	14
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers	14
Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies	14
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature	13
A founder UMOD variant is a common cause of hereditary nephropathy in the British population	13
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort	13
Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes	13
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort	12
COP27 climate change conference: urgent action needed for Africa and the world	12
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	12
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes	12
Using long-read sequencing to detect and subtype a case with Temple syndrome	12
Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies	12
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature	12
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	11

Male–female phenotype correlation and dissociation related to mutations in the ARX gene	11
Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations	11
Six at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 – what we have gained, what we have missed	11
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome	11
Congenital mirror movements are associated with defective polymerisation of RAD51	10
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer	10
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?	10
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications	10
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers	10
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	10
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations	10
MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect	10
Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025	10
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis	10
Evidence of a genetic background predisposing to complex regional pain syndrome type 1	10
Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families	10
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutatio	10
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families	10
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity	10
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency	10
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature	10
Correction 2: A common SLC26A4 -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aque	10
Systematic reanalysis of copy number losses of uncertain clinical significance	10
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	9
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome	9
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	9
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	9
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	9
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations	9
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	9
GAPO syndrome: a comprehensive examination and review of 105 clinical cases	9
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome	9
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS	9
ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer	9
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	9
AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome	9
GOLM1: expanding our understanding of melanoma susceptibility	9
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss	8
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function	8
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	8
Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers	8
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement	8
Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers	8
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	8
No association of Alzheimer disease with the joint effect of HFE and TF in the mid-western Amish	8
POT1 and multiple primary melanomas: the dermatological phenotype	8
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta	8
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	8
De novo variants in KCNJ3 are associated with early-onset epilepsy	8
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems	8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	8
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans	8
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	8
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma	8
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	7
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China	7
Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant	7
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	7
FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations	7
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service	7
Variant classification changes over time in the clinical molecular diagnostic laboratory setting	7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4	7
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation	7
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation	7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2	7
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study	6
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients	6
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	6
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency	6
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases	6
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study	6
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders	6
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum	6
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer	6
Long-term efficacy of migalastat in females with Fabry disease	6
Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records	6
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes	6
Genetic features and kidney morphological changes in women with X-linked Alport syndrome	6

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis	6
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence	6
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant	6
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA	6
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms	6
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort	6
Variant reclassification and clinical implications	6
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China	6
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer	6
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2	6
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis	6
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder	6
Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China	6
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis	6
Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death	6
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants	6
Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome	6
Genotypes and phenotypes ofDNM1encephalopathy	5
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries	5
Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome	5
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C	5
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers	5
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study	5
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay	5
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis	5
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants	5
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis	5
A tandem duplication of exon 42 of the DMD gene is a likely benign variant	5
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome	5
ACAN -related disorder, antenatal presentation and phenotypic variability: a case series	5
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer	5
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants	5
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study	5
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey	5
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice	5
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify	5
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis	5
‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy pr	5
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome	5
Identifying the molecular drivers of ALS-implicated missense mutations	5
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy	5
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews	5
Intragenic loss-of-function variants in transcription factors MAZ , FOXP1 and SIN3B	5
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	4
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics	4
Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition	4
Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK	4
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project	4
TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma	4
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals	4
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access	4
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome	4
Charis Eng: an appreciation	4
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department	4
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome	4
Germline pathogenic SMARCA4 variants in neuroblastoma	4
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults	4
New insights into CC2D2A-related Joubert syndrome	4
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications	4
De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy	4
Pancreatic cancer cluster region identified in BRCA2	4
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy	4
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project	4
Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis	4
Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting	4
Systems approach to enhance Lynch syndrome diagnosis through tumour testing	4
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis	4
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis	4
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of	4
End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes	4
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes	4
Correction: Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	4
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3	4
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	4
New patients with duplication of the pituitary gland–plus syndrome, including a PTCH2 variant and a literature review	4
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease	4
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism	3
Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and	3
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice	3
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals	3
Development of a comprehensive approach to adult hereditary cancer testing in Ontario	3
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation	3
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes	3
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency	3
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement	3
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China	3
Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSO	3
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples	3
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	3
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder	3
Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies	3
Parental knowledge, attitudes, satisfaction and decisional conflict regarding whole genome sequencing in the Genomic Medicine Service: a multisite survey study in England	3
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance	3
Faecal incontinence disorders in Wolfram syndrome: a new manifestation	3
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating	3