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Genetics in Medicine: Official Journal of the American College of Medical Genetics

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https://read.qxmd.com/read/31000793/mutant-ramp2-causes-primary-open-angle-glaucoma-via-the-crlr-camp-axis
#1
Bo Gong, Houbin Zhang, Lulin Huang, Yuhong Chen, Yi Shi, Pancy Oi-Sin Tam, Xianjun Zhu, Yi Huang, Bo Lei, Periasamy Sundaresan, Xi Li, Linxin Jiang, Jialiang Yang, Ying Lin, Fang Lu, Lijia Chen, Yuanfeng Li, Christopher Kai-Shun Leung, Xiaoxin Guo, Shanshan Zhang, Guo Huang, Yaqi Wu, Tongdan Zhou, Ping Shuai, Clement Chee-Yung Tham, Nicole Weisschuh, Subbaiah Ramasamy Krishnadas, Christian Mardin, André Reis, Jiyun Yang, Lin Zhang, Yu Zhou, Ziyan Wang, Chao Qu, Peter X Shaw, Chi-Pui Pang, Xinghuai Sun, Weiquan Zhu, Dean Yaw Li, Francesca Pasutto, Zhenglin Yang
PURPOSE: Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide and mutations in known genes can only explain 5-6% of POAG. This study was conducted to identify novel POAG-causing genes and explore the pathogenesis of this disease. METHODS: Exome sequencing was performed in a Han Chinese cohort comprising 398 sporadic cases with POAG and 2010 controls, followed by replication studies by Sanger sequencing. A heterozygous Ramp2 knockout mouse model was generated for in vivo functional study...
April 19, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30992552/pancreatic-cancer-and-melanoma-related-perceptions-and-behaviors-following-disclosure-of-cdkn2a-variant-status-as-a-research-result
#2
Emma R Leof, Xuan Zhu, Kari G Rabe, Jennifer B McCormick, Gloria M Petersen, Carmen Radecki Breitkopf
PURPOSE: This study examined whether participants who learned research results related to a germline CDKN2A variant known to be associated with increased risk of pancreatic cancer and malignant melanoma would pursue confirmatory testing and cancer screening, share the genetic information with health care providers and family, and change risk perceptions. METHODS: Participants were pancreas research registry enrollees whose biological sample was tested in a research laboratory for the variant...
April 17, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30992551/aberrant-dna-methylation-as-a-diagnostic-biomarker-of-diabetic-embryopathy
#3
Katharina V Schulze, Amit Bhatt, Mahshid S Azamian, Nathan C Sundgren, Gladys E Zapata, Patricia Hernandez, Karin Fox, Jeffrey R Kaiser, John W Belmont, Neil A Hanchard
PURPOSE: Maternal diabetes is a known teratogen that can cause a wide spectrum of birth defects, collectively referred to as diabetic embryopathy (DE). However, the pathogenic mechanisms underlying DE remain uncertain and there are no definitive tests to establish the diagnosis. Here, we explore the potential of DNA methylation as a diagnostic biomarker for DE and to inform disease pathogenesis. METHODS: Bisulfite sequencing was used to identify gene regions with differential methylation between DE neonates and healthy infants born with or without prenatal exposure to maternal diabetes, and to investigate the role of allele-specific methylation at implicated sites...
April 17, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30992550/research-participants-preferences-for-receiving-genetic-risk-information-a-discrete-choice-experiment
#4
Jennifer Viberg Johansson, Sophie Langenskiöld, Pär Segerdahl, Mats G Hansson, Ulrika Ugander Hösterey, Anders Gummesson, Jorien Veldwijk
PURPOSE: This study aims to determine research participants' preferences for receiving genetic risk information when participating in a scientific study that uses genome sequencing. METHODS: A discrete choice experiment questionnaire was sent to 650 research participants (response rate 60.5%). Four attributes were selected for the questionnaire: type of disease, disease penetrance probability, preventive opportunity, and effectiveness of the preventive measure. Panel mixed logit models were used to determine attribute level estimates and the heterogeneity in preferences...
April 17, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30976099/pigt-cdg-a-disorder-of-the-glycosylphosphatidylinositol-anchor-description-of-13-novel-patients-and-expansion-of-the-clinical-characteristics
#5
Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, Dejan Dukic, Elena Gardella, Agnieszka Charzewska, Emma Clement, Helle Hjalgrim, Dorota Hoffman-Zacharska, Denise Horn, Rachel Horton, Jane A Hurst, Dragana Josifova, Line H G Larsen, Karine Lascelles, Ewa Obersztyn, Alistair Pagnamenta, Deb K Pal, Manuela Pendziwiat, Mina Ryten, Jenny Taylor, Julie Vogt, Yvonne Weber, Peter M Krawitz, Ingo Helbig, Usha Kini, Rikke S Møller
PURPOSE: To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of this rare disorder. Furthermore, to use computer-assisted facial gestalt analysis in PIGT-CDG and to the compare findings with other glycosylphosphatidylinositol (GPI) anchor deficiencies. METHODS: We evaluated 13 children from eight unrelated families with homozygous or compound heterozygous pathogenic variants in PIGT...
April 12, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30976098/identifying-occult-maternal-malignancies-from-1-93-million-pregnant-women-undergoing-noninvasive-prenatal-screening-tests
#6
Xing Ji, Jia Li, Yonghua Huang, Pi-Lin Sung, Yuying Yuan, Qiang Liu, Yan Chen, Jia Ju, Yafeng Zhou, Shujia Huang, Fang Chen, Yuan Han, Wen Yuan, Cheng Fan, Qiang Zhao, Haitao Wu, Suihua Feng, Weiqiang Liu, Zhihua Li, Jingsi Chen, Min Chen, Hong Yao, Li Zeng, Tao Ma, Shushu Fan, Jinman Zhang, Ka Yiu Yuen, So Hin Cheng, Irene Wing Shan Chik, Nien-Tzu Liu, Jianyu Zhu, Siyuan Lin, Jeremy Cao, Steve Tong, Zhiyuan Shan, Wenyan Li, Mohammad Reza Hekmat, Masoud Garshasbi, Javier Suela, Yaima Torres, Juan C Cigudosa, F J Pérez Ruiz, Laura Rodríguez, Mónica García, Janez Bernik, Eva Traven, Uršula Reš, Nataša Tul, Ching-Fong Tseng, Depeng Zhao, Luming Sun, Qiong Pan, Li Shen, Mengyao Dai, Yuying Wang, Jian Wang, Huanming Yang, Ye Yin, Tao Duan, Baosheng Zhu, Mahesh Choolani, Xin Jin, Yingwei Chen, Mao Mao
PURPOSE: Multiple chromosomal aneuploidies may be associated with maternal malignancies and can cause failure of noninvasive prenatal screening (NIPS) tests. However, multiple chromosomal aneuploidies show poor specificity and selectivity for diagnosing maternal malignancies. METHODS: This multicenter retrospective analysis evaluated 639 pregnant women who tested positive for multiple chromosomal aneuploidies on initial NIPS test between January 2016 and December 2017...
April 12, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30976097/crispr-in-the-north-american-popular-press
#7
Alessandro Marcon, Zubin Master, Vardit Ravitsky, Timothy Caulfield
PURPOSE: CRISPR is often called one of the century's most important discoveries and is commonly discussed in terms of its momentous potential impacts. This study analyzed how CRISPR is discussed in the North American popular press, including how it is defined, and which benefits and risks/concerns are attributed to the technology. METHODS: Using the Factiva database, we identified 228 relevant, nonduplicated articles containing either "CRISPR" or "C...
April 12, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30971835/letter-relearning-the-3-r-s-reinterpretation-recontact-and-return-of-genetic-variants
#8
LETTER
Bartha Maria Knoppers, Adrian Thorogood, Ma'n H Zawati
No abstract text is available yet for this article.
April 11, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30971834/commentary-expanded-carrier-screening-how-much-is-too-much
#9
Ronald J Wapner, Joseph R Biggio
No abstract text is available yet for this article.
April 11, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30971833/response-to-knoppers-et-al
#10
LETTER
Karen L David, Robert G Best, Leslie Manace Brenman, Lynn Bush, Joshua Deignan, David Flannery, Jodi D Hoffman, Ingrid Holm, David T Miller, James O'Leary, Reed E Pyeritz
No abstract text is available yet for this article.
April 11, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30971832/variant-classification-changes-over-time-in-brca1-and-brca2
#11
Chloe Mighton, George S Charames, Marina Wang, Kathleen-Rose Zakoor, Andrew Wong, Salma Shickh, Nicholas Watkins, Matthew S Lebo, Yvonne Bombard, Jordan Lerner-Ellis
PURPOSE: To report BRCA1 and BRCA2 (BRCA1/2) variant reassessments and reclassifications between 2012 and 2017 at the Advanced Molecular Diagnostics Laboratory (AMDL) in Toronto, Canada, which provides BRCA1/2 testing for patients in Ontario, and to compare AMDL variant classifications with submissions in ClinVar. METHODS: Variants were assessed using a standardized variant assessment tool based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology's guidelines and tracked in an in-house database...
April 11, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30967659/alpk1-missense-pathogenic-variant-in-five-families-leads-to-rosah-syndrome-an-ocular-multisystem-autosomal-dominant-disorder
#12
Lloyd B Williams, Asif Javed, Amin Sabri, Denise J Morgan, Chad D Huff, John R Grigg, Xiu Ting Heng, Alexis J Khng, Iris H I M Hollink, Margaux A Morrison, Leah A Owen, Katherine Anderson, Krista Kinard, Rebecca Greenlees, Danica Novacic, H Nida Sen, Wadih M Zein, George M Rodgers, Albert T Vitale, Neena B Haider, Axel M Hillmer, Pauline C Ng, Shankaracharya, Anson Cheng, Linda Zheng, Mark C Gillies, Marjon van Slegtenhorst, P Martin van Hagen, Tom O A R Missotten, Gary L Farley, Michael Polo, James Malatack, Julie Curtin, Frank Martin, Susan Arbuckle, Stephen I Alexander, Megan Chircop, Sonia Davila, Kathleen B Digre, Robyn V Jamieson, Margaret M DeAngelis
PURPOSE: To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. METHODS: Independent discovery exome and genome sequencing in families 1, 2, and 3, and confirmation in families 4 and 5. Expression of wild-type messenger RNA and protein in human and mouse tissues and cell lines...
April 10, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30948858/all-cause-mortality-and-survival-in-adults-with-22q11-2-deletion-syndrome
#13
Lily Van, Tracy Heung, Justin Graffi, Enoch Ng, Sarah Malecki, Spencer Van Mil, Erik Boot, Maria Corral, Eva W C Chow, Kathleen A Hodgkinson, Candice Silversides, Anne S Bassett
PURPOSE: Given limited data available on long-term outcomes in 22q11.2 deletion syndrome (22q11.2DS), we investigated mortality risk in adults with this microdeletion syndrome. METHODS: We studied 309 well-characterized adults (age ≥17 years) with 22q11.2DS and their 1014 unaffected parents and siblings, using a prospective case-control design. We used Cox proportional hazards regression modeling and Kaplan-Meier curves to investigate effects of the 22q11.2 deletion and its associated features on all-cause mortality and survival...
April 5, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30948857/successful-recruitment-and-retention-of-diverse-participants-in-a-genomics-clinical-trial-a-good-invitation-to-a-great-party
#14
Carol R Horowitz, Tatiana Sabin, Michelle Ramos, Lynne D Richardson, Diane Hauser, Mimsie Robinson, Kezhen Fei
PURPOSE: African ancestry (AA) individuals are inadequately included in translational genomics research, limiting generalizability of findings and benefits of genomic discoveries for populations already facing disproportionately poor health outcomes. We aimed to determine the impact of stakeholder-engaged strategies on recruitment and retention of AA adult patients into a clinical trial testing them for renal risk variants nearly exclusive to AAs. METHODS: Our academic-clinical-community team developed ten key strategies that recognize AAs' barriers and facilitators for participation...
April 5, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30948856/a-high-resolution-x-chromosome-copy-number-variation-map-in-fertile-females-and-women-with-primary-ovarian-insufficiency
#15
Svetlana A Yatsenko, Michelle Wood-Trageser, Tianjiao Chu, Huaiyang Jiang, Aleksandar Rajkovic
PURPOSE: Sex-biased expression of genes on the X chromosome is accomplished by a complex mechanism of dosage regulation that leads to anatomical and physiological differences between males and females. Copy-number variations (CNVs) may impact the human genome by either affecting gene dosage or disturbing a chromosome structural and/or functional integrity. METHODS: We performed a high-resolution CNV profiling to investigate the X chromosome integrity in cohorts of 269 fertile females and 111 women affected with primary ovarian insufficiency (POI) and assessed CNVs impact into functional and nonfunctional genomic elements...
April 5, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30944417/correction-clinical-and-genetic-spectrum-of-children-with-congenital-diarrhea-and-enteropathy-in-china
#16
Ziqing Ye, Ying Huang, Cuifang Zheng, Yuhuan Wang, Junping Lu, Huijun Wang, Bingbing Wu, Xiaochuan Wang, Rong Zhang, Jin Wang
There is an error in the figure legend of Figure 1(a). The correct figure legend for this figure should be "Fig.1 (a) Hematoxylin and eosin (H&E) analysis of the descending duodenum shows the loss of goblet cells and Paneth cells and the presence of apoptotic cells in patient 48."
April 4, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30944416/correction-population-genomic-screening-of-all-young-adults-in-a-health-care-system-a-cost-effectiveness-analysis
#17
Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew, Xun Zhuang, David J Amor, Aamira Huq, Lara Petelin, Mark Nelson, Paul A James, Ingrid Winship, John J McNeil, Paul Lacaze
In the original version of this Article, the affiliation details for Lei Zhang were given as Monash University. While working on the Article Dr. Zhang was also affiliated with the Department of Epidemiology and Biostatistics, School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, PR China. This has now been corrected in both the PDF and HTML versions of the Article.
April 4, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30940925/biallelic-loss-of-function-p4htm-gene-variants-cause-hypotonia-hypoventilation-intellectual-disability-dysautonomia-epilepsy-and-eye-abnormalities-hidea-syndrome
#18
Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S Plomp, Reginald E Bittner, Mitja I Kurki, Outi Kuismin, Andrea M Lewis, Marja-Leena Väisänen, Hannaleena Kokkonen, Jonne Westermann, Günther Bernert, Hannu Tuominen, Aarno Palotie, Lauri Aaltonen, Yaping Yang, Lorraine Potocki, Jukka Moilanen, Silvana van Koningsbruggen, Xia Wang, Wolfgang M Schmidt, Peppi Koivunen, Johanna Uusimaa
PURPOSE: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), and ubiquitin specific peptidase 4 (USP4). However, the causative gene remained elusive. METHODS: International collaboration and exome sequencing were used to identify new patients with HIDEA and biallelic, potentially pathogenic, P4HTM variants...
April 3, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30940924/adherence-of-cell-free-dna-noninvasive-prenatal-screens-to-acmg-recommendations
#19
Brian G Skotko, Megan A Allyse, Komal Bajaj, Robert G Best, Susan Klugman, Mark Leach, Stephanie Meredith, Marsha Michie, Katie Stoll, Anthony R Gregg
PURPOSE: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. METHODS: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018...
April 3, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30930462/evaluation-of-the-cost-and-effectiveness-of-diverse-recruitment-methods-for-a-genetic-screening-study
#20
Hila Milo Rasouly, Julia Wynn, Maddalena Marasa, Rachel Reingold, Debanjana Chatterjee, Sheena Kapoor, Stacy Piva, Byum Hee Kil, Xueru Mu, Maria Alvarez, Jordan Nestor, Karla Mehl, Anya Revah-Politi, Natalie Lippa, Michelle E Ernst, Louise Bier, Aileen Espinal, Bianca Haser, Anoushka Sinha, Ian Halim, David Fasel, Nicole Cuneo, Jacqueline J Thompson, Miguel Verbitsky, Elizabeth G Cohn, Jill Goldman, Karen Marder, Robert L Klitzman, Manuela A Orjuela, Yat S So, Alex Fedotov, Katherine D Crew, Krzysztof Kiryluk, Paul S Appelbaum, Chunhua Weng, Karolynn Siegel, Ali G Gharavi, Wendy K Chung
PURPOSE: Recruitment of participants from diverse backgrounds is crucial to the generalizability of genetic research, but has proven challenging. We retrospectively evaluated recruitment methods used for a study on return of genetic results. METHODS: The costs of study design, development, and participant enrollment were calculated, and the characteristics of the participants enrolled through the seven recruitment methods were examined. RESULTS: A total of 1118 participants provided consent, a blood sample, and questionnaire data...
April 1, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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