Terkko Navigator / Molecular Genetics & Genomic Medicine

Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease

Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects

Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family

Evaluation of the indication of BRCA1/2 genetic tests in Iranian women and acceptance rate of risk‐reducing surgeries in BRCA mutation carriers

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws

Distribution of RET proto‐oncogene variants in children with appendicitis

Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile‐onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in children

De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report

Silent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis

Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON)

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an“HHT‐like” syndrome in children

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene

Variable expressivity in a family with an aggrecanopathy

Retracted: Yu, L., Li, H., Liu, W., Zhang, L., Tian, Q., Li, H., & Li, M. (2021). miR‐485‐3p serves as a biomarker and therapeutic target of Alzheimer's disease via regulating neuronal cell viability and neuroinflammation by targeting AKT3. Molec

Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis

Current status of beta‐thalassemia and its treatment strategies

Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH)

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina

Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320)

Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations

Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

Easy and fast PCR‐based protocol allows characterization of breakpoints resulting from Alu/Alu‐mediated genomic rearrangements

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Heritability and genome‐wide association study of blood pressure in Chinese adult twins

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C