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DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy
Germline heterozygous mutations in DDX41 predispose individuals to hematologic malignancies in adulthood. Most of these DDX41 mutations result in a...
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Anthropogenetic study of the Arabic - speaking population of Chaouia Ouardigha (Morocco) based on autosomal STRs
BackgroundThe Chaouia - Ouradigha is a historical and ethno-geographic region of Morocco. Despite its historical relevance, this region has not...
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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
Inherited prion diseases caused by two- to twelve-octapeptide repeat insertions (OPRIs) in the prion protein gene ( PRNP ) show significant clinical...
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Hemicentral retinal vein occlusion in a patient with a history of coronavirus disease 2019 infection: a case report and review of the literature
BackgroundConsidering the various manifestations of coronavirus disease 2019 and its imperative importance in terms of the right clinical approach...
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InDEL instability in two different tumoral tissues and its forensic significance
There may be cases where malignant tumor samples can be used for forensic DNA profiling studies. STRs are the first systems preferred in forensic...
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Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report
BackgroundHypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart...
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PGT-A: Houston, we have a problem
Preimplantation genetic testing for aneuploidy (PGT-A) is a common add-on to IVF cycles. As it is presently performed, PGT-A relies on whole genome...
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Geographical and temporal dynamics of genetic diversity of Plasmodium falciparum merozoite surface proteins 1/2 in India
The high genetic diversity of Plasmodium falciparum ( Pf ) is a big obstacle to successful vaccine development programs. Here, the geographical and...
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Comparison of ONT and CCS sequencing technologies on the polyploid genome of a medicinal plant showed that high error rate of ONT reads are not suitable for self-correction
BackgroundMany medicinal plants are known for their complex genomes with high ploidy, heterozygosity, and repetitive content which pose severe...
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Neoadjuvant talazoparib in patients with germline BRCA1/2 mutation-positive, early-stage triple-negative breast cancer: exploration of tumor BRCA mutational status
BackgroundTalazoparib monotherapy in patients with germline BRCA -mutated, early-stage triple-negative breast cancer (TNBC) showed activity in the...
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Syndromic MEN1 parathyroid adenomas consist of both subclonal nodules and clonally independent tumors
Primary hyperparathyroidism with parathyroid tumors is a typical manifestation of Multiple Endocrine Neoplasia Type 1 (MEN1) and is historically...
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An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report
Uniparental disomies (UPD) refers to the inheritance of both homologs of a chromosome from only one parent with no representative copy from the other...
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SNP analysis of challenging bone DNA samples using the HID-Ion AmpliSeq™ Identity Panel: facts and artefacts
PCR-MPS is an emerging tool for the analysis of low-quality DNA samples. In this study, we used PCR-MPS to analyse 32 challenging bone DNA samples...
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SNP array genomic analysis of matched pairs of brain and liver metastases in primary colorectal cancer
PurposeBrain metastasis formation is a rare and late event in colorectal cancer (CRC) patients and associated with poor survival. In contrast to...
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Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study
PurposeCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from enzyme deficiencies associated with...
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Inhibition of post-lanosterol biosynthesis by fentanyl: potential implications for Fetal Fentanyl Syndrome (FFS)
A recent study discovered a novel, complex developmental disability syndrome, most likely caused by maternal fentanyl use disorder. This Fetal...
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Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy
The autosomal recessive (AR) form of Long QT Syndrome (LQTS) is described both associated with deafness known as Jervell and Lange-Nielsen (JLN)...
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Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature
Congenital dyserythropoietic anemia type II (CDA II) refers to a group of extremely rare heterozygous disorders characterized by ineffective...
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A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas
PurposeMultiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene....
