Return of Participants’ Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community by Lyle G. Best, Marcia O’Leary, Rae O’Leary, Wendy Lawrence, Dara G. Torgerson

“…Subsequently, microarray genotype data became available, providing over 2 million variants, incidentally including some conferring risk for conditions for which the American College of Medical Genetics recommends return of results. …”
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Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population by Melike Ersoy, Bulent Uyanik, Asuman Gedikbasi

“…Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. …”
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Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency by Gaopin Yuan, Xiaohong Zhang, Tingli Chen, Jiansheng Lin

“…The novel variant c.1842_1845dup was rated as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines (ACMG). …”
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Newborn sequencing is only part of the solution for better child health by Luca Brunelli, Heeju Sohn, Amy Brower

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In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population by Sahand Khamooshian, Mohsen Kazeminia, Keivan Moradi

“…The aim of this study was to collect all PTS gene variants detected among Iranian patients with PTPS deficiency as well as in the Iranome project and classify them based on American College of Medical Genetics and Genomics (ACMG-AMP) guidelines. …”
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Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains by Keogh, M, Wei, W, Aryaman, J, Wilson, I, Talbot, K, Turner, M, McKenzie, C, Troakes, C, Attems, J, Smith, C, Al Sarraj, S, Morris, C, Ansorge, O, Pickering-Brown, S, Jones, N, Ironside, J, Chinnery, P

“…Genetic variants were assessed using the American College of Medical Genetics criteria for pathogenicity. …”

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III by Tingting Yu, Hao Fu, Aoyu Yang, Yan Liang

“…Genetic testing was performed using GSDs gene panel sequencing, and the identified variants were classified according to the American College of Medical Genetics (ACMG) criteria. The pathogenicity of the novel variants was furthermore assessed through bioinformatics analysis and cellular functional validation experiments. …”
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Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China by Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li

“…Both variants are classified as pathogenic according to American College of Medical Genetics and Genomics guidelines. Conclusions We reported the first prenatal case of RLSDF caused by PKDCC in the Chinese population. …”
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Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect by Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali

“…Identified variants were analyzed, and their pathogenicity was interpreted according to the recommendations of the American College of Medical Genetics and Genomics. Results We identified two new mutations in DYSF, the first one is a nonsense mutation c.2419C > T (p.Gln807*), which eliminates downstream part of the protein. …”
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A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing by Gulhan Gurel, Muhsin Elmas, Basak Gogus

“…The analysis identified a homozygous c.1020delG change in the TGM1 gene in the form of a frameshift mutation that is classified as pathogenic according to the American College of Medical Genetics criteria. Conclusion: Next-generation sequencing technologies employing whole-exome sequencing enable the sequencing of all protein-coding DNA regions in a single run. …”
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Functional Analysis of the <i>PCCA</i> and <i>PCCB</i> Gene Variants Predicted to Affect Splicing by Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova

“…The analysis of the available data for the studied variants and application of the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) guidelines allowed us to precisely classify five of the variants and change the pathogenic status of nine. …”
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A pedigree of early ⁃ onset familial Alzheimer's disease type 3 with spastic paraplegia as the primary manifestation by LI Hai‑jiang, WANG Chao‑dong

“…According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the above mutation was classified as likely pathogenic (PS3 + PM2 + PS4_Moderate). …”
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Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter by Parith Wongkittichote, Soe Soe Mar, Robert C. McKinstry, Hoanh Nguyen

“…Based on the American College of Medical Genetics (ACMG) recommendations, we classified p.Arg225Trp as likely pathogenic. …”
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Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case repor... by Hao-Yi Tan, Bin Wang, Yuan-Zong Song

“…With an extremely low frequency (0.0000082) in Exome Aggregation Consortium, the variant has not been reported in any other databases or official literatures, and was diagnosed to be pathogenic according to the American College of Medical Genetics and Genomics(ACMG) standards and guidelines. …”
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Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome by Xiwen Zhang, Lifen Chen, Lin Li, Jingjing An, Qinyu He, Xuelei Zhang, Wenli Lu, Yuan Xiao, Zhiya Dong

“…According to the American College of Medical Genetics (ACMG) assessment, the mutation is a pathogenic variant. …”
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Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights by Lihua Jiang, Sen Chen

“…According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), this variant is preliminarily classified as “Likely pathogenic”. …”
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The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts by Amy Brower, Kee Chan, Michael Hartnett, Jennifer Taylor

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Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia by Minghui Bao, Jun Cai, Xinchun Yang, Wenjun Ma

“…Variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. …”
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Genetic diagnosis of hereditary spastic paraplegia in a family: one case report and literature review by ZHU Xintong, GUO Hong, GUO Hong

“…Whole exome sequencing and Sanger sequencing indicated that the patient was identified with a double allelic deletion c.733_734del (p.M245Vfs*2) in the SPG 11 gene, and this mutation was determined to be pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy by Laura Rufibach, Kiera Berger, Samya Chakravorty, Sarah Emmons, Laurie Long, Greg Gibson, Madhuri Hegde

“…We performed targeted RNA-Seq using a custom gene-panel in 77 individuals with a clinical/genetic suspicion of dysferlinopathy and evaluated all 111 identified <i>DYSF</i> variants according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines. …”
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