Molecular Genetics & Genomic Medicine
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2.18
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1,265
Papers 1,698
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#1Ramya Ramasubramanian (UMN: University of Minnesota)H-Index: 1
#2Ravi Kalhan (NU: Northwestern University)H-Index: 32
Last. Bharat Thyagarajan (UMN: University of Minnesota)H-Index: 30
view all 8 authors...
Background null Circulating markers of oxidative stress have been associated with lower lung function. Our objective was to study the association of gene expression levels of oxidative stress pathway genes (ALOX12, ALOX15, ARG2, GSTT1, LPO, MPO, NDUFB3, PLA2G7, and SOD3) and lung function forced expiratory volume in one second (FEV1 ), forced vital capacity (FVC) in Coronary Artery Risk Development in Young Adults study. null Methods null Lung function was measured using spirometry and the Nanos...
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#1Meiping Chen (Peking Union Medical College Hospital)H-Index: 1
#2Xiaoan Ke (Peking Union Medical College Hospital)H-Index: 1
Last. Huijuan Zhu (Peking Union Medical College Hospital)H-Index: 19
view all 10 authors...
Background null Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited. null Methods null One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype examination was included. All published r (15) syndrome cases as of March 15, 202...
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#1Shaukat Ali (Government College University)H-Index: 14
#2Shumaila Mumtaz (Government College University)H-Index: 9
Last. Muhammad Adeeb Khan (University of Azad Jammu and Kashmir)H-Index: 8
view all 11 authors...
Background null Thalassemia is an inherited hematological disorder categorized by a decrease or absence of one or more of the globin chains synthesis. Beta-thalassemia is caused by one or more mutations in the beta-globin gene. The absence or reduced amount of beta-globin chains causes ineffective erythropoiesis which leads to anemia. null Methods null Beta-thalassemia has been further divided into three main forms: thalassemia major, intermedia, and minor/silent carrier. A more severe form amon...
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#1Susan Howell (University of Colorado Denver)H-Index: 9
Last. Nathalie Nguyen (University of Colorado Denver)H-Index: 5
view all 7 authors...
Background null Supernumerary sex chromosome aneuploidies (SCA) are common genetic conditions characterized by additional X or Y chromosome, affecting ~1/500 individuals, with the most frequent karyotypes of 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY (Jacob syndrome). Although there is considerable phenotypic variation among these diagnoses, these conditions are characterized by the presence of overlapping physical, medical, developmental, and psychological features. Our inter...
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#1Mario Gorenjak (University of Maribor)H-Index: 7
Last. Uroš Potočnik (University of Maribor)H-Index: 17
view all 5 authors...
Familial Progressive Hyper- and Hypopigmentation is a pigmentary disorder characterized by a mix of hypo- and hyperpigmented lesions, cafe-au-lait spots and hypopigmented ash-leaf macules. The disorder was previously linked to KITLG and various mutations have been reported to segregate in different families. Furthermore, association between KITLG mutations and malignancies was also suggested. Exome and SANGER sequencing were performed for identification of KITLG mutations. Functional in silico a...
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#1Frédéric Tran Mau-Them (University of Burgundy)H-Index: 7
#2Yannis Duffourd (University of Burgundy)H-Index: 24
Last. Christel Thauvin-Robinet (University of Burgundy)H-Index: 51
view all 19 authors...
BACKGROUND Exome sequencing (ES) has become the most powerful and cost-effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%-40% in solo-ES and 50% in trio-ES. We applied an innovative parental DNA pooling method to reduce the parental sequencing cost while maintaining the diagnostic yield of trio-ES. METHODS We pooled six (Agilent-CRE-v2-100X) or five parental DNA (TWIST-HCE-70X) aiming to detect allelic balance around 8-10% for heterozygous status. The ...
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#1Niall P. Keegan (Murdoch University)H-Index: 1
#2Sue Fletcher (UWA: University of Western Australia)H-Index: 39
Background null Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low-level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation. Five recent reports have described how low-level splicing of cryptic exons can be modulated by common single-nucleotide polymorphisms (SNPs), resulting in phenotypic differences amongst different genotypes. null Methods null We sought to investigate whether add...
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#1Jie ZhangH-Index: 5
Last. Baosheng Zhu (Kunming University of Science and Technology)H-Index: 4
view all 16 authors...
BACKGROUND Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α-thalassemia and two novel cases of β-thalassemia caused by five different mutations in the globin gene. METHODS Next-generation sequencing (NGS) was used to identify novel α- and β-thalassemia in five individuals, which was confirmed by Sanger sequencing of the globin gene. Hematological parameters were determined by an automated cell counter, and hemoglobin electrophoresis ...
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BACKGROUNDS MUTYH-associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic MUTYH PV. The analysis focused on 26 patients with suspected MAP, belonging to 23 families. Ten probands carried also one or more additional MUTYH variants of unknown significance. METHODS Based on variant type and on the collected clinical and m...
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#1Bertrand ChesneauH-Index: 2
#2Aurélie PlanckeH-Index: 4
Last. Philippe Khau Van Kien (CNRS: Centre national de la recherche scientifique)
view all 12 authors...
Background null Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). null Methods and results null We report a family referred for molecular diagnosis with HTAAD/PDA phenotype in which we found a variant at a non-conserved position of the 5' donor splice site of intron 32 of MYH11 potentially altering splicing (NM_002474.3:c....
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