Genetics in Medicine
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#1Kandamurugu Manickam (Nationwide Children's Hospital)H-Index: 14
#2Monica R. McClainH-Index: 14
Last. Fuki M. Hisama (UW: University of Washington)H-Index: 30
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PURPOSE To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years. METHODS The Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence...
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#1Sophie L. V. M. Stroeks (UM: Maastricht University)
#2Debby M.E.I. Hellebrekers (UM: Maastricht University)H-Index: 16
Last. Stephane Heymans (UM: Maastricht University)H-Index: 72
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PURPOSE Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria for DCM, reclassified all detected variants in robust genes, and associated these results to patients' phenotype. METHODS The study included 902 DCM probands from the Maastricht Cardiomyopathy Registry who underwent ...
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#1Gautam Kok (UU: Utrecht University)H-Index: 2
#2Laura A. Tseng (Boston Children's Hospital)H-Index: 3
Last. François FeilletH-Index: 36
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PURPOSE Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their cognate amino acids, ARS are essential for protein translation. However, it remains unknown why ARS deficiencies lead to specific symptoms, especially early life and during infections. We set out to increase pathophysiological insight and improve therapeutic possibilities. METHODS In fibroblasts from patients with iso...
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#1Ruimeng Yang (SJTU: Shanghai Jiao Tong University)H-Index: 5
#2Ming Zhan (SJTU: Shanghai Jiao Tong University)H-Index: 7
Last. Chang-Run Zhang (SJTU: Shanghai Jiao Tong University)H-Index: 4
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PURPOSE Congenital hypothyroidism (CH) is a common congenital endocrine disorder in humans. CH-related diseases such as athyreosis, thyroid ectopy, and hypoplasia are primarily caused by dysgenic thyroid development. However, the underlying molecular mechanisms remain unknown. METHODS To identify novel CH candidate genes, 192 CH patients were enrolled, and target sequencing of 21 known CH-related genes was performed. The remaining 98 CH patients carrying no known genes were subjected to exome se...
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#2Maharaj Singh (Marquette University)H-Index: 9
Last. Sheldon R. GarrisonH-Index: 9
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PURPOSE The vast majority of rare diseases (RDs) are complex, disabling, and life-threatening conditions with a genetic origin. RD patients face significant health challenges and limited treatments, yet the extent of their impact within health care is not well known. One direct method to gauge the disease burden of RDs is their overall cost and utilization within health-care systems. METHODS The 2016 Healthcare Cost and Utilization Project (HCUP) databases were used to extract health-care utiliz...
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#1Lang Wu (U.H.: University of Hawaii at Manoa)H-Index: 23
#2Jingjing Zhu (U.H.: University of Hawaii at Manoa)H-Index: 8
Last. Chong Wu (FSU: Florida State University)H-Index: 10
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Purpose null It is critical to identify putative causal targets for SARS coronavirus 2, which may guide drug repurposing options to reduce the public health burden of COVID-19. null Methods null We applied complementary methods and multiphased design to pinpoint the most likely causal genes for COVID-19 severity. First, we applied cross-methylome omnibus (CMO) test and leveraged data from the COVID-19 Host Genetics Initiative (HGI) comparing 9,986 hospitalized COVID-19 patients and 1,877,672 pop...
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#1Sheng-Jia Lin (OMRF: Oklahoma Medical Research Foundation)H-Index: 1
#2Barbara Vona (University of Tübingen)H-Index: 10
Last. Paulina Bahena (University of Würzburg)H-Index: 3
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PURPOSE Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo. METHODS Through international collaboration, we identified 22 affected individuals from 16 unrelated families harboring biallelic likely pathogenic or pathogenic in KARS1 variants. S...
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#1Emma J. Dogterom (EUR: Erasmus University Rotterdam)
#2Margreet A E M Wagenmakers (EUR: Erasmus University Rotterdam)H-Index: 11
Last. Esmee Oussoren (EUR: Erasmus University Rotterdam)H-Index: 8
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PURPOSE Mucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma are rare autosomal recessive lysosomal storage disorders. Data on the natural course of the diseases are scarce. These data are important for counseling, therapies development, and improvement of outcome. The aim of this study is to gain knowledge on the natural history of ML by obtaining data on survival, symptom onset, presenting symptoms, diagnosis, and pathogenic variants associated with the MLII or MLIII phenotype. METHODS A s...
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#1Lance H. Rodan (Boston Children's Hospital)H-Index: 21
#2Rebecca C. Spillmann (Durham University)H-Index: 18
Last. Omer Bar-Yosef (Sheba Medical Center)H-Index: 8
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PURPOSE CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype. METHODS We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurolo...
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PURPOSE Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening. METHODS Cases positive for one or more subchromosomal CNV from genome-wide cfDNA screening and diagnostic outcomes were compiled. Diagnostic testing trends were analyzed, positive predictive values (PPVs) were calculated, and the type...
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