Article
Genetics & Heredity
Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana
Summary: Most studies on Y chromosome abnormalities focus on sexual developmental disorders, but recent studies suggest that genes on the Y chromosome may be related to neurodevelopment disorders. This report discusses a child with a sexual developmental disorder characterized by language impairment and autistic behavior, associated with mosaicism and a partial deletion of the Y chromosome. The lack of PCDH11Y and NLGN4Y genes on the Y chromosome in the same patient may contribute to early language development and later autistic behavior, suggesting a complementary role in cerebral cortex formation/maturation.
BMC MEDICAL GENOMICS
(2021)
Article
Genetics & Heredity
Giovana E. da Costa, Giordane L. Fernandes, Juliana C. G. Rodrigues, Diana F. da V. B. Leal, Lucas F. Pastana, Esdras E. B. Pereira, Paulo P. Assumpcao, Rommel M. R. Burbano, Sidney E. B. dos Santos, Joao F. Guerreiro, Marianne R. Fernandes, Ney P. C. dos Santos
Summary: Autism spectrum disorder is a neurodevelopmental disorder affecting one in 160 children worldwide. Genetic factors, including CHD8, SCN2A, FOXP1, and SYNGAP1 genes, play a role in the pathophysiology of autism. This study investigated the genetic profile of Amazonian Amerindians, identifying 16 variants with significantly different frequencies from other populations. Understanding these variants can contribute to the diagnosis and pathophysiology of autism in Amerindians and admixed populations.
Article
Genetics & Heredity
Ikhlas Ben Ayed, Wafa Bouchaala, Amal Bouzid, Wiem Feki, Amal Souissi, Sihem Ben Nsir, Mariem Ben Said, Takwa Sammouda, Fatma Majdoub, Ines Kharrat, Fatma Kamoun, Ines Elloumi, Hassen Kamoun, Abdelaziz Tlili, Saber Masmoudi, Chahnez Triki
Summary: Intellectual disability often co-occurs with other neurologic phenotypes, making molecular diagnosis challenging, particularly in consanguineous populations. Through clinical exome sequencing, this study identified TRAPPC9 and CDK5RAP2 gene variants associated with ID and microcephaly in a Tunisian family, expanding the understanding of genetic causes and potential implications for diagnosis and management.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Martina Rosato, Sven Stringer, Titia Gebuis, Iryna Paliukhovich, Ka Wan Li, Danielle Posthuma, Patrick F. Sullivan, August B. Smit, Ronald E. van Kesteren
Summary: A combined cellomics and proteomics approach was used to disentangle polygenic risk in schizophrenia by searching for shared neuronal morphology and cellular pathway phenotypes of candidate schizophrenia risk genes. It was found that certain schizophrenia risk genes shared a neuronal phenotype marked by a reduction in synapse numbers and converged onto the syntaxin-mediated neurotransmitter release pathway. This study provides new biological functions for schizophrenia risk genes and supports the idea that polygenic risk results from multiple small impacts on common neuronal signaling pathways.
MOLECULAR PSYCHIATRY
(2021)
Article
Clinical Neurology
Alfredo Orrico, Lucia Galli, Maja Rossi, Ambra Cortesi, Marta Mazzi, Ettore Caterino
Summary: Mutations in the MBD5 gene can cause cognitive disability and autism spectrum disorder, with heterozygous frameshift variants showing varying degrees of severity in clinical presentation. These findings further support the significant role of the MBD5 gene in the pathogenesis of intellectual disability.
Article
Chemistry, Multidisciplinary
Xueqin He, Jiang Xie, Jing Zhang, Xiaorong Wang, Xufeng Jia, Heng Yin, Zhongqing Qiu, Zhihang Yang, Jiao Chen, Zhiliang Ji, Wenqi Yu, Meiwan Chen, Wenming Xu, Huile Gao
Summary: This study established an aspirin encapsulated cascade drug delivery system (Asp@TMNPs) that targets the blood-brain barrier and microglial cells, effectively alleviating mitochondrial oxidative stress, DNA damage, and inflammation in microglial cells. After treatment with Asp@TMNPs, social interaction, stereotype behavior, and anxious condition in ASD mice were notably improved, and microglial cell activation was inhibited.
Article
Biology
Diana Weiting Tan, Syed Zulqarnain Gilani, Gail A. Alvares, Ajmal Mian, Andrew J. O. Whitehouse, Murray T. Maybery
Summary: The broad autism phenotype refers to sub-clinical levels of autistic-like behavior and cognition in biological relatives of autistic people. A recent study found that increased facial masculinity may also be a feature of the broad autism phenotype. This study further investigated the presence of increased facial masculinity among non-autistic parents of autistic children and found that they had significantly higher masculinity scores and larger facial distances compared to a comparison group.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Genetics & Heredity
Courtney P. Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael J. Lyons, Willa Thorson, Wen-Hann Tan, Nancy Rodig, John M. Graham Jr, Angela Peron, Fabiola Quintero-Rivera, Elaine H. Zackai, Mary Ann Thomas, Cathy A. Stevens, Margaret P. Adam, Lynne M. Bird, Marilyn C. Jones, Dena R. Matalon
Summary: This study investigates the association between 17q12 microdeletion and various clinical phenotypes, particularly congenital abnormalities of the kidney and urinary tract (CAKUT). The study finds that prenatal renal phenotypes in cases with 17q12 microdeletion are diverse, with renal cysts and echogenic kidneys being the most common. Postnatally, renal cysts are frequently observed, but no cases of end-stage renal disease are found during childhood or follow-up.
PRENATAL DIAGNOSIS
(2023)
Article
Behavioral Sciences
Emmanuel Peng Kiat Pua, Tarishi Desai, Cherie Green, Krysta Trevis, Natasha Brown, Martin Delatycki, Ingrid Scheffer, Sarah Wilson
Summary: Relatives of individuals with autism spectrum disorder may display milder social traits known as the broader autism phenotype, indicating potential genetic risk for ASD. This study found an inherited pattern of graded difficulties in social cognition in families with ASD and the BAP, with atypical faux pas detection being a potential endophenotype for ASD. Objective measures of social skills can help identify genetic risk for ASD and facilitate research on the genetic causes of ASD in this population.
Article
Environmental Sciences
Xin Yu, Md Mostafijur Rahman, Sarah A. Carter, Jane C. Lin, Zimin Zhuang, Ting Chow, Frederick W. Lurmann, Michael J. Kleeman, Mayra P. Martinez, Aaron van Donkelaar, Randall V. Martin, Sandrah P. Eckel, Zhanghua Chen, Pat Levitt, Joel Schwartz, Daniel Hackman, Jiu-Chiuan Chen, Rob Mcconnell, Anny H. Xiang
Summary: This study investigates the potential synergistic associations between prenatal exposure to ambient particulate matter with aerodynamic diameter < 2.5 mu m (PM2.5) and maternal immune activation (MIA)-related conditions in increasing the risk of Autism Spectrum Disorder (ASD) in children. The results show that MIA-related conditions and pregnancy PM2.5 were independently associated with ASD risk, but there were no significant interactions between them.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Psychology, Developmental
Anusha Gandhi, Dihong Zhou, Joseph Alaimo, Edwin Chon, Michael D. Fountain, Sarah H. Elsea
Summary: Caregivers of children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and identify specific sleep problems for each disorder. Results showed differences in sleep patterns compared to children with autism spectrum disorder (ASD), with PTHS having significant but less severe sleep disturbances than SMS and MAND. More support, education, and ongoing management of sleep are needed for these individuals due to the complexity of these conditions and challenges of underlying sleep disturbance.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Clinical Neurology
Matthias Koenning, Xianlong Wang, Menuka Karki, Rahul Kumar Jangid, Sarah Kearns, Durga Nand Tripathi, Michael Cianfrocco, Kristen J. Verhey, Sung Yun Jung, Cristian Coarfa, Christopher Scott Ward, Brian Thomas Kalish, Sandra L. Grimm, W. Kimryn Rathmell, Ricardo Mostany, Ruhee Dere, Matthew Neil Rasband, Cheryl Lyn Walker, In Young Park
Summary: Research has found that defects in chromatin remodeller genes play a major role in autism spectrum disorder, causing methylation of microtubules and resulting in functional and structural deficits in neurons.
Article
Behavioral Sciences
William J. Chopik, Jeewon Oh, Amy K. Nuttall, Katharine N. Thakkar, Brooke Ingersoll
Summary: Past research has focused on refining the broader autism phenotype (BAP) and its correlates, while neglecting how the BAP differs by socio-demographic characteristics, like age. This study found that total BAP scores were higher in younger adults and lower in older adults, particularly for pragmatic language difficulties. Aloofness also decreased with age, while rigidity did not show a significant association. These results suggest a decrease in BAP traits across the lifespan and have implications for clinical interventions.
Article
Psychology, Developmental
Miriam Martini, Inge Merkelbach, Sander Begeer
Summary: Pre- and post-term children have an increased risk of autism, but there are no phenotypical differences across gestational age groups. The risk of autism is particularly high for post-term children, highlighting the need for further investigation into the relationship between gestational age and autism.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Multidisciplinary
Woo-Jin Cha, Jang-Han Lee
Summary: The study found that individuals with broad autism phenotype tend not to integrate target emotions with contextual information, leading to slower emotional recognition speed, and they have different cognitive patterns in emotional recognition compared to the control group.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Pediatrics
Amy Pan, Sierra Scodellaro, Tayyaba Khan, Inna Ushcatz, Wendy Wu, Meredith Curtis, Eyal Cohen, Ronald D. Cohn, Robin Z. Hayeems, M. Stephen Meyn, Julia Orkin, Jaskiran Otal, Miriam S. Reuter, Susan Walker, Stephen W. Scherer, Christian R. Marshall, Iris Cohn, Gregory Costain
Summary: Genome-wide sequencing can provide clinically relevant pharmacogenetic information for children with medical complexity, enabling precision prescribing practices throughout their lifelong care.
PEDIATRIC RESEARCH
(2023)
Article
Genetics & Heredity
Qiliang Ding, Cherith Somerville, Roozbeh Manshaei, Brett Trost, Miriam S. Reuter, Kelsey Kalbfleisch, Kaitlin Stanley, John B. A. Okello, S. Mohsen Hosseini, Eriskay Liston, Meredith Curtis, Mehdi Zarrei, Edward J. Higginbotham, Ada J. S. Chan, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Raymond H. Kim, Rebekah K. Jobling
Summary: This study introduces SCIP, a software package that enables efficient and accurate clinical interpretation of CNVs, facilitating improved genetic diagnoses.
Article
Biochemistry & Molecular Biology
Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S. Alkuraya, Stephen Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Tomasio Neves, Sergio B. Sousa, Rosanna Weksberg
Summary: Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 cause KBG syndrome and are associated with unique DNAm signatures. These DNAm profiles can be used for diagnostic purposes and can help classify individuals with variants of uncertain significance in ANKRD11.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurelie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh
Summary: Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and the underlying disease mechanisms for most CNVs are unknown. In this study, a 15q13.3 microdeletion mouse model and patient iPSC-derived neurons were used to investigate the developmental defects caused by the CNV. By targeting the 15q13.3 CNV genetic driver OTUD7A, the study revealed a critical OTUD7A-Ankyrin pathway in neuronal development and dysfunction in the 15q13.3 microdeletion syndrome.
MOLECULAR PSYCHIATRY
(2023)
Article
Oncology
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W. W. Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D. D. Anderson, Arun K. K. Ramani, Kyoko E. E. Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D. D. Wasserman, Rosemarie E. E. Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan A. Han, Maria Montero, Famida Spatare, James A. A. Whitlock, Stephen W. W. Scherer, Kathy Chun, Martin J. J. Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramaswamy, Gino R. R. Somers, Lianna Kyriakopoulou, Johann Hitzler, Mary Shago, Daniel A. A. Morgenstern, Uri Tabori, Stephen Meyn, Meredith S. S. Irwin, David Malkin, Adam Shlien
Summary: We conducted integrative somatic-germline analyses on 300 cancer patients, sequencing 864 cancer-associated genes, complete genomes, and transcriptomes. Clinically actionable variants were found in 56% of patients, leading to modified management in some cases. Therapeutically targetable variants, derived from both somatic and germline sources, were present in 54% of patients.
Article
Genetics & Heredity
Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Vissers E. L. M. Lisenka, Siddharth Banka, Rolph Pfundt, Bert B. A. de Vries, Richard H. van Jaarsveld, Saskia M. J. Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortuem, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibaek, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, Maria Soledad Lopez Garcia, Renee Perrier, Sergio B. Sousa, Pedro M. Almeida, Maria Jose Simoes, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano G. Caraffi, Francesca Peluso, Laura Davis-Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Danielle G. M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph Buxbaum, Bruce D. Gelb, Aleksic Branko, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Benedicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth J. Falb, Angelika Riess, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi-Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I. Dagli, Emmelien Aten, Anna C. E. Hurst, Alesha Hicks, Mohnish Suri, Ermal Aliu, Sunil Naik, Richard Sidlow, Juliette Coursimault, Gael Nicolas, Hanna Kuepper, Florence Petit, Veyan Ibrahim, Deniz Top, Francesca Di Cara, Raymond J. Louie, Elliot Stolerman, Han G. Brunner, Lisenka E. L. M. Vissers, Jamie M. Kramer, Tjitske Kleefstra
Summary: This study examines the clinical and molecular spectrum of individuals with KDM6B variants and challenges the accuracy of the current description of the disorder. Cognitive deficits are consistently observed, but the overall phenotype varies greatly. The study also demonstrates the disruptive effect of certain KDM6B variants on protein structure and introduces a functional testing paradigm for assessing these variants. The findings highlight the importance of international collaboration and rigorous functional analysis in diagnosing rare disorders.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Q. Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L. Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox
Summary: AMOTL1 encodes angiomotin-like protein 1, a protein that regulates cell polarity, adhesion, and migration. Variants in AMOTL1 are associated with orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations. The study suggests that missense variants in AMOTL1, particularly in the region affecting amino acids 157-161, define a new orofacial clefting syndrome and highlight the importance of this region in its function.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Pharmacology & Pharmacy
Luciana Bertholim-Nasciben, Marilia O. Scliar, Guilherme Debortoli, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Yeda A. O. Duarte, Mayana Zatz, Guilherme Suarez-Kurtz, Esteban J. Parra, Michel S. Naslavsky
Summary: This study evaluated the frequency of pharmacogenomics markers in the Brazilian population using whole-genome sequencing. The findings showed that some variants may lead to high-risk gene-drug interactions. The study concluded that next-generation sequencing for pharmacogenomics testing is feasible in the Brazilian population.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Genetics & Heredity
S. Yoo, E. Garg, L. T. Elliott, R. J. Hung, A. R. Halevy, J. D. Brooks, S. B. Bull, F. Gagnon, C. M. T. Greenwood, J. F. Lawless, A. D. Paterson, L. Sun, M. H. Zawati, J. Lerner-Ellis, R. J. S. Abraham, I Birol, G. Bourque, J-m Garant, C. Gosselin, J. Li, J. Whitney, B. Thiruvahindrapuram, J-a Herbrick, M. Lorenti, M. S. Reuter, O. O. Adeoye, S. Liu, U. Allen, F. P. Bernier, C. M. Biggs, A. M. Cheung, J. Cowan, M. Herridge, D. M. Maslove, B. P. Modi, V Mooser, S. K. Morris, M. Ostrowski, R. S. Parekh, G. Pfeffer, O. Suchowersky, J. Taher, J. Upton, R. L. Warren, R. S. M. Yeung, N. Aziz, S. E. Turvey, B. M. Knoppers, M. Lathrop, S. J. M. Jones, S. W. Scherer, L. J. Strug
Summary: HostSeq was launched in April 2020 to integrate whole genome sequencing data and clinical information of 10,000 Canadians infected with SARS-CoV-2. It aims to support research communities in understanding disease risk factors and developing interventions. HostSeq is a collaboration among 13 epidemiological studies across five provinces in Canada, providing aggregated data through two portals and individual-level data for global health research.
Article
Behavioral Sciences
Danielle A. Baribeau, Jasleen Arneja, Xuesong Wang, Jennifer Howe, John R. McLaughlin, Karen Tu, Jun Guan, Alana Iaboni, Elizabeth Kelley, Muhammad Ayub, Robert Nicolson, Stelios Georgiades, Stephen W. Scherer, Susan E. Bronskill, Evdokia Anagnostou, Jennifer D. Brooks
Summary: This study aimed to determine whether carrying an autism-associated rare genetic variant is associated with differences in health system utilization by autistic children and youth. The study found that participants with a rare variant impacting an autism-associated gene were less likely to have received psychiatric care, but there were no differences in health care costs and the proportion with complex chronic medical conditions.
Article
Genetics & Heredity
Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein, Najwa Albashir, Amal Hussein, Ilaria Poggiolini, Saba F. Elhag, Sasirekha Palaniswamy, Marios Kambouris, Maria de Fatima Janjua, Mohamed O. El Tahir, Ahsan Nazeer, Durre Shahwar, Muhammad Waqar Azeem, Younes Mokrab, Nazim Abdel Aati, Ammira Akil, Stephen W. Scherer, Madeeha Kamal, Khalid A. Fakhro
Summary: This study identified potentially pathogenic variants in ASD families in Qatar, with a significant proportion being single-gene variants. It also highlighted the impact of recessive variation on the ASD architecture in consanguineous settings, providing a unique genomic resource for future ASD research in the global community.
Article
Biology
Miriam S. Reuter, Dustin J. Sokolowski, J. Javier Diaz-Mejia, Johannes Keunen, Barbra de Vrijer, Cadia Chan, Liangxi Wang, Greg Ryan, David A. Chiasson, Troy Ketela, Stephen W. Scherer, Michael D. Wilson, Edgar Jaeggi, Rajiv R. Chaturvedi
Summary: Low blood flow through the fetal left heart can lead to hypoplastic left heart syndrome (HLHS). In this study, mid-gestation fetal lambs were used to create left ventricular inflow obstruction (LVIO) to investigate the effects of decreased left heart flow. The results showed that significant LVIO led to clinical features similar to HLHS, including decreased aortic valve flow, retrograde perfusion, severe left heart hypoplasia, and changes in cellular composition and gene expression consistent with fibrosis and abnormal mesenchymal programs.
COMMUNICATIONS BIOLOGY
(2023)
Meeting Abstract
Medicine, General & Internal
B. A. Fernandez, J. Howe, W. Engchaun, S. W. Scherer, R. K. Yuen, C. Shum, A. J. Chan, B. Trost
JOURNAL OF INVESTIGATIVE MEDICINE
(2023)
Article
Genetics & Heredity
Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen, Anne S. Bassett
Summary: Elevated TG levels are modifiable risk factors for cardiovascular disease, and this study found that the TG-PRS, along with sex and BMI, were significant predictors of TG levels, especially in individuals with obesity. A combination of TG-PRS, sex, and BMI showed the greatest accuracy in predicting mild-moderate hypertriglyceridemia.
BMC MEDICAL GENOMICS
(2023)
Article
Genetics & Heredity
Salma Shickh, Chloe Mighton, Marc Clausen, Rita Kodida, Ella Adi-Wauran, Daena Hirjikaka, Suvetha Krishnapillai, Emma Reble, Jordan Sam, Nancy N. Baxter, Andreas Laupacis, Yvonne Bombard
Summary: This study aims to explore the patient-reported utility of cancer results from genomic sequencing (GS). Results showed that patients' perceptions of the utility of GS results were dependent on whether they triggered clinical action. Patients who received results without clinical action became hypervigilant and experienced negative effects. Therefore, there is a need to develop practice interventions to support cancer patients undergoing GS.
GENETICS IN MEDICINE
(2023)