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316 results on '"Mahmoud, Medhat"'

2. Role of right ventricular–pulmonary arterial coupling assessed by echocardiography to predict adverse outcomes in patients with acute pulmonary embolism

Author

Amir Mostafa, Mahmoud Medhat, Hossam Alhosary, and Wassim Amin

Subjects
Pulmonary embolism, RV–PA coupling, Echocardiography, TAPSE/PASP ratio, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Background Pulmonary embolism (PE) is a lethal type of venous thromboembolic disease. Right ventricular (RV) failure is not an uncommon complication of PE leading to higher adverse outcomes. The tricuspid annular peak systolic excursion/pulmonary artery systolic pressure (TAPSE/PASP) ratio as a surrogate for RV–pulmonary artery coupling has proven to be among the predictor of clinical outcomes in multiple patient groups. We evaluated in this study the role of TAPSE/PASP ratio in predicting adverse clinical outcomes in patients with acute PE. Results Among patients with established diagnosis of acute PE admitted to the coronary care unit, echocardiography was done within 12 h of admission and TAPSE/PASP ratio was calculated. The patients were followed during hospitalization and after discharge for 3 months for development of adverse outcomes including rehospitalization due to heart failure, recurrent PE and mortality. A total of fifty-five consecutive patients were recruited with mean age 58.3 ± 6.9 years and nearly equal male-to-female ratio. The mean ratio of TAPSE/PASP was 0.479 ± 0.206. In-hospital and 3-month follow-up showed that 10.9% needed rehospitalization with heart failure, 14.5% developed recurrent pulmonary embolism, and mortality was 9.1%. TAPSE/PASP ratio was significantly lower among the patients who developed adverse outcomes. TAPSE/PASP ratio was among the independent predictors of rehospitalization with heart failure, recurrent pulmonary embolism but not mortality at 3-month follow-up. TAPSE/PASP ratio predicted rehospitalization with heart failure at a cutoff point ≤ 0.325, with 100% sensitivity and 79.6% specificity, and predicted recurrent pulmonary embolism at a cutoff point ≤ 0.325, with 75% sensitivity and 78.7% specificity. Conclusion TAPSE/PASP ratio is a noninvasive tool that can predict the development of early adverse outcomes in patients with acute PE including rehospitalization with heart failure and recurrent pulmonary embolism.

Published
2024
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3. Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

Author

Alvarez Jerez, Pilar, Daida, Kensuke, Grenn, Francis P., Malik, Laksh, Miano-Burkhardt, Abigail, Makarious, Mary B., Ding, Jinhui, Gibbs, J. Raphael, Moore, Anni, Reed, Xylena, Nalls, Mike A., Shah, Syed, Mahmoud, Medhat, Sedlazeck, Fritz J., Dolzhenko, Egor, Park, Morgan, Iwaki, Hirotaka, Casey, Bradford, Ryten, Mina, Blauwendraat, Cornelis, Singleton, Andrew B., and Billingsley, Kimberley J.

Published
2024
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6. Beyond the exome: what's next in diagnostic testing for Mendelian conditions

Author

Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., and Miller, Danny E.

Subjects
Quantitative Biology - Genomics
Abstract

Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending after ES. The current diagnostic rate reflects multiple factors, including technical limitations, incomplete understanding of variant pathogenicity, missing genotype-phenotype associations, complex gene-environment interactions, and reporting differences between clinical labs. Maintaining a clear understanding of the rapidly evolving landscape of diagnostic tests beyond ES, and their limitations, presents a challenge for non-genetics professionals. Newer tests, such as short-read genome or RNA sequencing, can be challenging to order and emerging technologies, such as optical genome mapping and long-read DNA or RNA sequencing, are not available clinically. Furthermore, there is no clear guidance on the next best steps after inconclusive evaluation. Here, we review why a clinical genetic evaluation may be negative, discuss questions to be asked in this setting, and provide a framework for further investigation, including the advantages and disadvantages of new approaches that are nascent in the clinical sphere. We present a guide for the next best steps after inconclusive molecular testing based upon phenotype and prior evaluation, including when to consider referral to a consortium such as GREGoR, which is focused on elucidating the underlying cause of rare unsolved genetic disorders.

Published
2023
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7. FixItFelix: improving genomic analysis by fixing reference errors

Author

Behera, Sairam, LeFaive, Jonathon, Orchard, Peter, Mahmoud, Medhat, Paulin, Luis F, Farek, Jesse, Soto, Daniela C, Parker, Stephen CJ, Smith, Albert V, Dennis, Megan Y, Zook, Justin M, and Sedlazeck, Fritz J

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Humans, Genomics, Genome, Human, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Reference, GRCh38, T2T-CHM13, Variant, SNV, INDEL, Medically relevant genes, Remapping, GIAB, eQTL, Environmental Sciences, Information and Computing Sciences, Bioinformatics
Abstract

The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 12 with medical relevance. Here, we present FixItFelix, an efficient remapping approach, together with a modified version of the GRCh38 reference genome that improves the subsequent analysis across these genes within minutes for an existing alignment file while maintaining the same coordinates. We showcase these improvements over multi-ethnic control samples, demonstrating improvements for population variant calling as well as eQTL studies.

Published
2023

8. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Author

Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Carter, Jennefer, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Delot, Emmanuele, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garcia, Brandon, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lee, Arthur, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James (Jim), Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Mendez, Hector Rodrigo, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Nguyen, Thuy-mi P., Nguyen, Jonathan, Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria`Sara, Ponce, Sarah, Porter, Elizabeth, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Evette, Scott, Stuart, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Kevin, Smith, Josh, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael (Mike), Tise, Christina, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Wei, Chia-Lin, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Chong, Jessica X., Berger, Seth I., Smith, Erica, Calame, Daniel G., Hawley, Megan H., Rivera-Munoz, E. Andres, Bamshad, Michael J., and Rehm, Heidi L.

Published
2024
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9. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Author

Grochowski, Christopher M., Bengtsson, Jesse D., Du, Haowei, Gandhi, Mira, Lun, Ming Yin, Mehaffey, Michele G., Park, KyungHee, Höps, Wolfram, Benito, Eva, Hasenfeld, Patrick, Korbel, Jan O., Mahmoud, Medhat, Paulin, Luis F., Jhangiani, Shalini N., Hwang, James Paul, Bhamidipati, Sravya V., Muzny, Donna M., Fatih, Jawid M., Gibbs, Richard A., Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Lindstrand, Anna, Sedlazeck, Fritz J., Pehlivan, Davut, Lupski, James R., and Carvalho, Claudia M.B.

Published
2024
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11. Benchmarking challenging small variants with linked and long reads.

Author

Wagner, Justin, Olson, Nathan, Harris, Lindsay, Khan, Ziad, Farek, Jesse, Mahmoud, Medhat, Stankovic, Ana, Kovacevic, Vladimir, Yoo, Byunggil, Miller, Neil, Rosenfeld, Jeffrey, Ni, Bohan, Zarate, Samantha, Kirsche, Melanie, Aganezov, Sergey, Schatz, Michael, Narzisi, Giuseppe, Byrska-Bishop, Marta, Clarke, Wayne, Evani, Uday, Markello, Charles, Shafin, Kishwar, Zhou, Xin, Sidow, Arend, Bansal, Vikas, Ebert, Peter, Marschall, Tobias, Lansdorp, Peter, Hanlon, Vincent, Mattsson, Carl-Adam, Barrio, Alvaro, Fiddes, Ian, Xiao, Chunlin, Fungtammasan, Arkarachai, Chin, Chen-Shan, Wenger, Aaron, Rowell, William, Sedlazeck, Fritz, Carroll, Andrew, Salit, Marc, and Zook, Justin

Abstract

Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use accurate linked and long reads to expand benchmarks in 7 samples to include difficult-to-map regions and segmental duplications that are challenging for short reads. These benchmarks add more than 300,000 SNVs and 50,000 insertions or deletions (indels) and include 16% more exonic variants, many in challenging, clinically relevant genes not covered previously, such as PMS2. For HG002, we include 92% of the autosomal GRCh38 assembly while excluding regions problematic for benchmarking small variants, such as copy number variants, that should not have been in the previous version, which included 85% of GRCh38. It identifies eight times more false negatives in a short read variant call set relative to our previous benchmark. We demonstrate that this benchmark reliably identifies false positives and false negatives across technologies, enabling ongoing methods development.

Published
2022

12. The comparative mechanisms of silent reading and reading aloud in people with dyslexia

Author

Elsherif, Mahmoud Medhat

Subjects
BF Psychology, P Philology. Linguistics
Abstract

Developmental dyslexia is a lifelong condition that manifests itself as a reading and spelling impairment. This thesis explored the quality of lexical representation in the neurotypical and dyslexic populations, using a suite of individual difference measures and the masked priming paradigm. Chapters 2 and 3 revealed that in the neurotypical population, the priming effect in word recognition was driven by a component related to phonological precision, while a factor linked to orthographic precision contributed to the priming effects of word and pseudoword production. Chapter 4, demonstrated in the dyslexic population, the priming effects in word and pseudoword rejection was driven by a component linked to lexical precision, whereas no individual factor drove the priming effects for word or pseudoword production. Chapter 5 showed that that 34% of people with dyslexia had stuttered during childhood, with the prevalence rate being moderated by the severity of dyslexia. In addition, people with dyslexia did not differ from people who stutter in any phonological processing measures. These findings indicate that people with dyslexia have a phonological, together with orthographic precision, impairment.

Published
2020

13. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

Author

Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Bozkurt-Yozgatli, Tugce, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Délot, Emmanuèle, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fatih, Jawid, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Pagé, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Guarischi Sousa, Rodrigo, Gudmundsson, Sanna, Gulati, Ashima, Guo, Daniel, Hale, Walker, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Herman, Isabella, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kohler, Jennefer, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James, Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Kumara Mastrorosa, Francesco, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Rodrigo Mendez, Hector, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moussa, Hala Mohamed, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Neu, Matthew B., Nguyen, Jonathan, Nguyen, Thuy-mi P., Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria, Ponce, Sarah, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Stuart, Scott, Evette, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Josh, Smith, Kevin, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sundaram, Laksshman, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael, Tise, Christina, Tong, Catherine, Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Wong, Issac, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Wojcik, Monica H., Reuter, Chloe M., Duyzend, Michael H., Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Starita, Lea M., Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., and Sedlazeck, Fritz J.

Published
2023
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14. A strategy for building and using a human reference pangenome.

Author

Llamas, Bastien, Narzisi, Giuseppe, Schneider, Valerie, Audano, Peter, Biederstedt, Evan, Blauvelt, Lon, Bradbury, Peter, Chang, Xian, Chin, Chen-Shan, Fungtammasan, Arkarachai, Clarke, Wayne, Cleary, Alan, Ebler, Jana, Eizenga, Jordan, Sibbesen, Jonas, Markello, Charles, Garrison, Erik, Garg, Shilpa, Hickey, Glenn, Lazo, Gerard, Lin, Michael, Mahmoud, Medhat, Marschall, Tobias, Minkin, Ilia, Musunuri, Rajeeva, Sagayaradj, Sagayamary, Novak, Adam, Rautiainen, Mikko, Regier, Allison, Sedlazeck, Fritz, Siren, Jouni, Souilmi, Yassine, Wagner, Justin, Wrightsman, Travis, Yokoyama, Toshiyuki, Zeng, Qiandong, Zook, Justin, Paten, Benedict, Busby, Ben, and Monlong, Jean

Abstract

In March 2019, 45 scientists and software engineers from around the world converged at the University of California, Santa Cruz for the first pangenomics codeathon. The purpose of the meeting was to propose technical specifications and standards for a usable human pangenome as well as to build relevant tools for genome graph infrastructures. During the meeting, the group held several intense and productive discussions covering a diverse set of topics, including advantages of graph genomes over a linear reference representation, design of new methods that can leverage graph-based data structures, and novel visualization and annotation approaches for pangenomes. Additionally, the participants self-organized themselves into teams that worked intensely over a three-day period to build a set of pipelines and tools for specific pangenomic applications. A summary of the questions raised and the tools developed are reported in this manuscript.

Published
2019

15. Curated variation benchmarks for challenging medically relevant autosomal genes

Author

Wagner, Justin, Olson, Nathan D., Harris, Lindsay, McDaniel, Jennifer, Cheng, Haoyu, Fungtammasan, Arkarachai, Hwang, Yih-Chii, Gupta, Richa, Wenger, Aaron M., Rowell, William J., Khan, Ziad M., Farek, Jesse, Zhu, Yiming, Pisupati, Aishwarya, Mahmoud, Medhat, Xiao, Chunlin, Yoo, Byunggil, Sahraeian, Sayed Mohammad Ebrahim, Miller, Danny E., Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Narzisi, Giuseppe, Evani, Uday Shanker, Clarke, Wayne E., Lee, Joyce, Mason, Christopher E., Lincoln, Stephen E., Miga, Karen H., Ebbert, Mark T. W., Shumate, Alaina, Li, Heng, Chin, Chen-Shan, Zook, Justin M., and Sedlazeck, Fritz J.

Published
2022
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18. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.

Author

Behera, Sairam, Belyeu, Jonathan R., Chen, Xiao, Paulin, Luis F., Nguyen, Ngoc Quynh H., Newman, Emma, Mahmoud, Medhat, Menon, Vipin K., Qi, Qibin, Joshi, Parag, Marcovina, Santica, Rossi, Massimiliano, Roller, Eric, Han, James, Onuchic, Vitor, Avery, Christy L., Ballantyne, Christie M., Rodriguez, Carlos J., Kaplan, Robert C., and Muzny, Donna M.

Abstract

The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate analysis is challenging. In this study, we present the DRAGEN KIV-2 CN caller, which utilizes short reads. Data across 166 WGS show that the caller has high accuracy, compared to optical mapping and can further phase approximately 50% of the samples. We compared KIV-2 CN numbers to 24 previously postulated KIV-2 relevant SNVs, revealing that many are ineffective predictors of KIV-2 copy number. Population studies, including USA-based cohorts, showed distinct KIV-2 CN, distributions for European-, African-, and Hispanic-American populations and further underscored the limitations of SNV predictors. We demonstrate that the CN estimates correlate significantly with the available Lp(a) protein levels and that phasing is highly important. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Towards a culture of open scholarship: the role of pedagogical communities

Author

Flávio Azevedo, Meng Liu, Charlotte R. Pennington, Madeleine Pownall, Thomas Rhys Evans, Sam Parsons, Mahmoud Medhat Elsherif, Leticia Micheli, Samuel J. Westwood, and Framework for Open, Reproducible Research Training (FORRT)

Subjects
Open scholarship, Open educational resources, Open science, Open research, Pedagogy, Reproducibility, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390
Abstract

Abstract The UK House of Commons Science and Technology Committee has called for evidence on the roles that different stakeholders play in reproducibility and research integrity. Of central priority are proposals for improving research integrity and quality, as well as guidance and support for researchers. In response to this, we argue that there is one important component of research integrity that is often absent from discussion: the pedagogical consequences of how we teach, mentor, and supervise students through open scholarship. We justify the need to integrate open scholarship principles into research training within higher education and argue that pedagogical communities play a key role in fostering an inclusive culture of open scholarship. We illustrate these benefits by presenting the Framework for Open and Reproducible Research Training (FORRT), an international grassroots community whose goal is to provide support, resources, visibility, and advocacy for the adoption of principled, open teaching and mentoring practices, whilst generating conversations about the ethics and social impact of higher-education pedagogy. Representing a diverse group of early-career researchers and students across specialisms, we advocate for greater recognition of and support for pedagogical communities, and encourage all research stakeholders to engage with these communities to enable long-term, sustainable change.

Published
2022
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20. The Replication Database: Documenting the Replicability of Psychological Science

Author

Röseler, Lukas, primary, Kaiser, Leonard, additional, Doetsch, Christopher Albert, additional, Klett, Noah, additional, Seida, Christian, additional, Schütz, Astrid, additional, Aczel, Balazs, additional, Adelina, Nadia, additional, Agostini, Valeria, additional, Alarie, Samuel, additional, Albayarak-Aydemir, Nihan, additional, Aldoh, Alaa, additional, Al-Hoorie, Ali H., additional, Azevedo, Flavio, additional, Baker, Bradley James, additional, Barth, Charlotte Lilian, additional, Beitner, Julia, additional, Brick, Cameron, additional, Brohmer, Hilmar, additional, Chandrashekar, Subramanya Prasad, additional, Chung, Kai Li, additional, Cockcroft, Jamie Philip, additional, Cummins, Jamie, additional, Diveica, Veronica, additional, Dumbalska, Tsvetomira, additional, efendic, emir, additional, Elsherif, Mahmoud Medhat, additional, Evans, Thomas Rhys, additional, Feldman, Gilad, additional, Fillon, Adrien Alejandro, additional, Förster, Nico, additional, Frese, Joris, additional, Genschow, Oliver, additional, Giannouli, Vaitsa, additional, Gjoneska, Biljana, additional, Gnambs, Timo, additional, Gourdon-Kanhukamwe, Amélie, additional, Graham, Christopher James, additional, Hartmann, Helena, additional, Haviva, Clove, additional, Herderich, Alina, additional, Hilbert, Leon Paul, additional, Holgado, Darias, additional, Hussey, Ian, additional, Ilchovska, Zlatomira, additional, Kalandadze, Tamara, additional, Karhulahti, Veli-Matti, additional, Kasseckert, Leon, additional, Klingelhöfer-Jens, Maren, additional, Koppold, Alina, additional, Korbmacher, Max, additional, Kulke, Louisa, additional, Kuper, Niclas, additional, LaPlume, Annalise Aleta, additional, Leech, Gavin, additional, Lohkamp, Feline, additional, Lou, Nigel Mantou, additional, Lynott, Dermot, additional, Maier, Maximilian, additional, Montefinese, Maria, additional, Meier, Maria, additional, Moreau, David, additional, Mrkva, Kellen, additional, Nemcova, Monika, additional, Oomen, Danna, additional, Packheiser, Julian, additional, Pandey, Shubham, additional, Papenmeier, Frank, additional, Paruzel-Czachura, Mariola, additional, Pavlov, Yuri G., additional, Pavlović, Zoran, additional, Pennington, Charlotte Rebecca, additional, Pittelkow, Merle-Marie, additional, Plomp, Willemijn, additional, Plonski, Paul E., additional, Pronizius, Ekaterina, additional, Pua, Andrew A., additional, Pypno, Katarzyna, additional, Rausch, Manuel, additional, Rebholz, Tobias R., additional, Richert, Elena, additional, Röer, Jan Philipp, additional, Ross, Robert M, additional, Schmidt, Kathleen, additional, Skvortsova, Aleksandrina, additional, Sperl, Matthias F.J., additional, Tan, Alvin Wei Ming, additional, Thürmer, J. Lukas, additional, Tołopiło, Aleksandra, additional, vanpaemel, wolf, additional, Vaughn, Leigh Ann, additional, Verheyen, Steven, additional, Wallrich, Lukas, additional, Weber, Lucia, additional, Wolska, Julia, additional, Zaneva, Mirela, additional, and Zhang, Yikang, additional

Published
2024
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21. Closing the gap: Solving complex medically relevant genes at scale

Author

Mahmoud, Medhat, primary, Harting, John, additional, Corbitt, Holly, additional, Chen, Xiao, additional, Jhangiani, Shalini, additional, Doddapaneni, Harsha, additional, Meng, Qingchang, additional, Lambert, Christine, additional, Zhang, Siyuan, additional, Baybayan, Primo, additional, Henno, Geoff, additional, Han, Tina, additional, Yi, Han, additional, Riegler, Casey, additional, Metcalf, Ginger, additional, Ivan, Chinn K, additional, Eberle, Michael A, additional, Kingan, Sarah, additional, Farinholt, Tim, additional, Claudia, Carvalho, additional, Gibbs, Richard A, additional, Kronenberg, Zev, additional, Muzny, Donna, additional, and Sedlazeck, Fritz J, additional

Published
2024
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22. Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

Author

Foox, Jonathan, Tighe, Scott W., Nicolet, Charles M., Zook, Justin M., Byrska-Bishop, Marta, Clarke, Wayne E., Khayat, Michael M., Mahmoud, Medhat, Laaguiby, Phoebe K., Herbert, Zachary T., Warner, Derek, Grills, George S., Jen, Jin, Levy, Shawn, Xiang, Jenny, Alonso, Alicia, Zhao, Xia, Zhang, Wenwei, Teng, Fei, Zhao, Yonggang, Lu, Haorong, Schroth, Gary P., Narzisi, Giuseppe, Farmerie, William, Sedlazeck, Fritz J., Baldwin, Don A., and Mason, Christopher E.

Published
2021
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23. Chromosome-scale, haplotype-resolved assembly of human genomes

Author

Garg, Shilpa, Fungtammasan, Arkarachai, Carroll, Andrew, Chou, Mike, Schmitt, Anthony, Zhou, Xiang, Mac, Stephen, Peluso, Paul, Hatas, Emily, Ghurye, Jay, Maguire, Jared, Mahmoud, Medhat, Cheng, Haoyu, Heller, David, Zook, Justin M., Moemke, Tobias, Marschall, Tobias, Sedlazeck, Fritz J., Aach, John, Chin, Chen-Shan, Church, George M., and Li, Heng

Published
2021
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24. Community-Acquired Versus Hospital-Acquired Hyponatremia in Medical ICU: Clinical Characteristics and Outcomes.

Author

Khalil, Usama A., Osman, Fayrouz, Sakr, Mohamad, Ramadan, Khalid, and Mahmoud, Medhat Ibrahim

Subjects
HYPONATREMIA, INTENSIVE care units, HOSPITAL mortality, ARTIFICIAL respiration, GASTROINTESTINAL diseases
Abstract

Background: Hyponatremia is common in the Intensive Care Unit (ICU) and is linked to increased mortality. Hyponatremia may be community-acquired (CAH) or develop after hospital admission (HAH); however, there are limited studies that compare the characteristics of hyponatremia in both settings and whether this is reflected in the short-term outcome. We aimed to compare community-acquired (CAH) and hospital-acquired (HAH) hyponatremia regarding clinical and laboratory features and short-term outcomes, including in-hospital mortality and length of stay (LOS). Methods: In this prospective cohort study, critically ill patients with hyponatremia, defined as serum sodium concentrations <135 mmol/L, were included and were grouped into the CAH group and the HAH group that developed during hospitalization. Demographic, laboratory, and clinical data and outcomes (mechanical ventilation, length of stay, and ICU mortality) were compared between both groups. Results: The CAH group included 71 patients: 39 (54.9%) males and 32 (45.1%) females with a mean age ±SD of 56.54 ± 15.92 years, whereas the HAH group included 19 patients: 9 (47.1%) males and 10 (52.6%) females with a mean age ± SD of 56.21 ± 18.37 years, with no statistically significant difference between both groups. In HAH, compared to CAH, the most common primary diseases were cardiopulmonary (26.3%) vs. (31%), and gastrointestinal disease (26.3%) vs. (25.4%), with no statistically significant difference between both groups. This non-significant difference between both groups extended to include clinical severity scores, the need for mechanical ventilation, and length of stay. However, mortality was significantly higher in the CAH group, and having hyponatremia on admission was associated with a 4-fold increased risk of mortality compared to the HAH group (odd ratio 4.62, confidence interval (0.99-21.63) (p<0.05). Conclusions: Community-acquired hyponatremia is more frequent in ICU settings and shares many characteristics with hospital-acquired hyponatremia; however, CAH is associated with a worse outcome, specifically a higher risk of mortality compared to HAH. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Promoting Civility in Formal And Informal Open Science Contexts

Author

Darda, Kohinoor Monish, primary, Conry-Murray, Clare, additional, Schmidt, Kathleen, additional, Elsherif, Mahmoud Medhat, additional, Peverill, Matthew, additional, Yoneda, Tomiko, additional, Lawson, Katherine M., additional, DiGregory, Evan, additional, Moreau, David, additional, Shorter, Gillian W, additional, and Gernsbacher, Morton Ann, additional

Published
2023
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31. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures

Author

Grochowski, Christopher M., primary, Bengtsson, Jesse D., additional, Du, Haowei, additional, Gandhi, Mira, additional, Lun, Ming Yin, additional, Mehaffey, Michele G., additional, Park, KyungHee, additional, Höps, Wolfram, additional, Benito-Garagorri, Eva, additional, Hasenfeld, Patrick, additional, Korbel, Jan O., additional, Mahmoud, Medhat, additional, Paulin, Luis F., additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Fatih, Jawid M., additional, Gibbs, Richard A., additional, Pendleton, Matthew, additional, Harrington, Eoghan, additional, Juul, Sissel, additional, Lindstrand, Anna, additional, Sedlazeck, Fritz J., additional, Pehlivan, Davut, additional, Lupski, James R., additional, and Carvalho, Claudia M.B., additional

Published
2023
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32. Comparative Cognition Needs Big Team Science: How Large-Scale Collaborations Will Unlock the Future of the Field

Author

Alessandroni, Nicolás, primary, Altschul, Drew, additional, Bazhydai, Marina, additional, Byers-Heinlein, Krista, additional, Elsherif, Mahmoud Medhat, additional, Gjoneska, Biljana, additional, Huber, Ludwig, additional, Mazza, Valeria, additional, Miller, Rachael, additional, Nawroth, Christian, additional, Pronizius, Ekaterina, additional, Qadri, Muhammad A J, additional, Šlipogor, Vedrana, additional, Soderstrom, Melanie, additional, Stevens, Jeffrey R, additional, Visser, Ingmar, additional, Williams, Madison, additional, Zettersten, Martin, additional, and Prétôt, Laurent, additional

Published
2023
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33. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Author

Wenger, Aaron M., Peluso, Paul, Rowell, William J., Chang, Pi-Chuan, Hall, Richard J., Concepcion, Gregory T., Ebler, Jana, Fungtammasan, Arkarachai, Kolesnikov, Alexey, Olson, Nathan D., Töpfer, Armin, Alonge, Michael, Mahmoud, Medhat, Qian, Yufeng, Chin, Chen-Shan, Phillippy, Adam M., Schatz, Michael C., Myers, Gene, DePristo, Mark A., Ruan, Jue, Marschall, Tobias, Sedlazeck, Fritz J., Zook, Justin M., Li, Heng, Koren, Sergey, Carroll, Andrew, Rank, David R., and Hunkapiller, Michael W.

Published
2019
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34. Evaluating the pedagogical effectiveness of study preregistration in the undergraduate dissertation: A Registered Report

Author

Pownall, Madeleine, primary, Pennington, Charlotte Rebecca, additional, Norris, Emma, additional, Juanchich, Marie, additional, Smailes, David, additional, Russell, P. Sophie, additional, Gooch, Debbie, additional, Evans, Thomas Rhys, additional, Persson, Sofia, additional, Mak, Matthew HC, additional, Tzavella, Loukia, additional, Monk, Rebecca, additional, Gough, Thomas, additional, Benwell, Christopher, additional, Elsherif, Mahmoud Medhat, additional, Farran, Emily Kate, additional, Gallagher-Mitchell, Thomas, additional, Kendrick, Luke Thomas, additional, Bahnmueller, Julia, additional, Nordmann, Emily, additional, Zaneva, Mirela, additional, Gilligan-Lee, Katie Anne, additional, Bazhydai, Marina, additional, Jones, Andrew, additional, Sedgmond, Jemma, additional, Holzleitner, Iris Jasmin, additional, Reynolds, James, additional, Moss, Joanna, additional, Farrelly, Daniel, additional, Parker, Adam James, additional, and Clark, Kait, additional

Published
2023
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35. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

Author

Wojcik, Monica H., primary, Reuter, Chloe M., additional, Marwaha, Shruti, additional, Mahmoud, Medhat, additional, Duyzend, Michael H., additional, Barseghyan, Hayk, additional, Yuan, Bo, additional, Boone, Philip M., additional, Groopman, Emily E., additional, Délot, Emmanuèle C., additional, Jain, Deepti, additional, Sanchis-Juan, Alba, additional, Starita, Lea M., additional, Talkowski, Michael, additional, Montgomery, Stephen B., additional, Bamshad, Michael J., additional, Chong, Jessica X., additional, Wheeler, Matthew T., additional, Berger, Seth I., additional, O'Donnell-Luria, Anne, additional, Sedlazeck, Fritz J., additional, and Miller, Danny E., additional

Published
2023
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36. Guidelines to improve internationalization in the psychological sciences

Author

Puthillam, Arathy, primary, Montilla Doble, Lysander James, additional, Delos Santos, Junix Jerald I., additional, Elsherif, Mahmoud Medhat, additional, Steltenpohl, Crystal N., additional, Moreau, David, additional, Pownall, Madeleine, additional, Silverstein, Priya, additional, Anand‐Vembar, Shaakya, additional, and Kapoor, Hansika, additional

Published
2023
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38. Supplementary Figures S1-S6 and Tables S1-S5 from Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration

Author

Akagi, Keiko, primary, Symer, David E., primary, Mahmoud, Medhat, primary, Jiang, Bo, primary, Goodwin, Sara, primary, Wangsa, Darawalee, primary, Li, Zhengke, primary, Xiao, Weihong, primary, Dunn, Joe Dan, primary, Ried, Thomas, primary, Coombes, Kevin R., primary, Sedlazeck, Fritz J., primary, and Gillison, Maura L., primary

Published
2023
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39. Supplementary Video: HPV and Heterocateny from Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration

Author

Akagi, Keiko, primary, Symer, David E., primary, Mahmoud, Medhat, primary, Jiang, Bo, primary, Goodwin, Sara, primary, Wangsa, Darawalee, primary, Li, Zhengke, primary, Xiao, Weihong, primary, Dunn, Joe Dan, primary, Ried, Thomas, primary, Coombes, Kevin R., primary, Sedlazeck, Fritz J., primary, and Gillison, Maura L., primary

Published
2023
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41. A Guide for Social Science Journal Editors on Easing into Open Science

Author

Silverstein, Priya, primary, Elman, Colin, additional, Montoya, Amanda Kay, additional, McGillivray, Barbara, additional, Pennington, Charlotte Rebecca, additional, Harrison, Chase H., additional, Steltenpohl, Crystal Nicole, additional, Röer, Jan Philipp, additional, Corker, Katherine S., additional, Charron, Lisa M, additional, Elsherif, Mahmoud Medhat, additional, na, ana, additional, Hayes-Harb, Rachel, additional, Grinschgl, Sandra, additional, Neal, Tess M.S., additional, Evans, Thomas Rhys, additional, Karhulahti, Veli-Matti, additional, Krenzer, William Leo Donald, additional, Belaus, Anabel, additional, Moreau, David, additional, Burin, DI, additional, Chin, Elizabeth, additional, Plomp, Esther, additional, Mayo-Wilson, Evan, additional, Lyle, Jared, additional, Adler, Jonathan M, additional, Bottesini, Julia G., additional, Schmidt, Kathleen, additional, Reneau, Kyrani, additional, Vilhuber, Lars, additional, Waltman, Ludo, additional, Gernsbacher, Morton Ann, additional, Plonski, Paul E., additional, Ghai, Sakshi, additional, Grant, Sean, additional, Christian, Thu-Mai Lewis, additional, Ngiam, William Xiang Quan, additional, and Syed, Moin, additional

Published
2023
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42. Assessment of the Risk Factors and Different Lines of Treatment of Anemia in Kidney Transplant Recipients.

Author

Elsaftawy, Mohamed Mohamed, Mahmoud, Medhat Ibrahim, Elhendy, Yaser Abdelmoniem, and Akl, Ahmed Ibrahim

Subjects
*KIDNEY transplantation, *ANEMIA treatment, *RISK assessment, *DISEASE risk factors, *GLOMERULAR filtration rate
Abstract

Background: This study aimed to screen the prevalence, etiologies of post transplantation anemia PTA, its implication on graft function and efficacy of different approaches in the management of anemia in a cohort of kidney transplant recipients. Methods: We studied 320 kidney transplant recipients; 160 cases (anemic patients) and 160 control (normal Hb group). Univariate and multivariate analysis were done to evaluate the risk of anemia. A prospective investigation of various etiologies of anemia post renal transplantation were done. complete blood picture, Iron indices, kidney function. Management of anemia according to condition was administered either by iron therapy or erythropoietin stimulating agents (ESA) therapy. Re-evaluation was done after 3 months of continuous treatment by laboratory, radiological and clinical assessment. Resistant cases managed by bone marrow biopsy or modify immunosuppression. Results: Our cohort included 320 patients with multiple risk factors that showed statistical significance by Univariate analysis. The risk factors of PTA in our study were female gender (P value< 0.001), odds ratio OR (3.1), old age (P value 0.001), low pre-transplant Hemoglobin P value (0.002), acute rejection (P value< 0.007), OR (2.5), number of acute rejections (P value 0.04) OR (4.9), chronic rejection (P value 0.004) OR (2.1 ), Bacterial infections (P value 0.047) OR (2.1). Low iron indices were also risk factors; ferritin, P value (0.005), transferrin saturation (TSAT) P value (0.040) and were associated with Low estimated glomerular filtration rate (eGFR) (at 0,3,6,12,24 months) in anemic patients (89.7 ± 31.1, 85.3 ± 31.6, 84.1 ± 32, 81.8 ± 31.3, 80.9 ± 32.5) respectively. Conclusion: The risk factors of PTA in our study were female gender old donors, acute rejection, chronic rejection, number of acute rejections, bacterial infections and low iron indices associated with progressive decline eGFR. [ABSTRACT FROM AUTHOR]

Published
2024
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43. Guidelines to improve internationalization in the psychological sciences.

Author

Puthillam, Arathy, Montilla Doble, Lysander James, Delos Santos, Junix Jerald I., Elsherif, Mahmoud Medhat, Steltenpohl, Crystal N., Moreau, David, Pownall, Madeleine, Silverstein, Priya, Anand-Vembar, Shaakya, and Kapoor, Hansika

Subjects
GLOBALIZATION, SCIENCE fairs, SCIENCE conferences, HUMAN behavior, RESEARCH personnel
Abstract

Conversations about the internationalization of psychological sciences have occurred over a few decades with very little progress. Previous work shows up to 95% of participants in the studies published in mainstream journals are from Western, Educated, Industrialized, Rich, Democratic nations. Similarly, a large proportion of authors are based in North America. This imbalance is well-documented across a range of subfields in psychology, yet the specific steps and best practices to bridge publication and data gaps across world regions are still unclear. To address this issue, we conducted a hackathon at the Society for the Improvement of Psychological Science 2021 conference to develop guidelines to improve international representation of authors and participants, adapted for various stakeholders in the production of psychological knowledge. Based on this hackathon, we discuss specific guidelines and practices that funding bodies, academic institutions, professional academic societies, journal editors and reviewers, and researchers should engage with to ensure psychology is the scientific discipline of human behavior and cognition across the world. These recommendations will help us develop a more valid and fairer science of human sociality. [ABSTRACT FROM AUTHOR]

Published
2024
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44. Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

Author

Foox, Jonathan, Tighe, Scott W., Nicolet, Charles M., Zook, Justin M., Byrska-Bishop, Marta, Clarke, Wayne E., Khayat, Michael M., Mahmoud, Medhat, Laaguiby, Phoebe K., Herbert, Zachary T., Warner, Derek, Grills, George S., Jen, Jin, Levy, Shawn, Xiang, Jenny, Alonso, Alicia, Zhao, Xia, Zhang, Wenwei, Teng, Fei, Zhao, Yonggang, Lu, Haorong, Schroth, Gary P., Narzisi, Giuseppe, Farmerie, William, Sedlazeck, Fritz J., Baldwin, Don A., and Mason, Christopher E.

Published
2021
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45. The replication crisis has led to positive structural, procedural, and community changes

Author

Korbmacher, Max, primary, Azevedo, Flavio, additional, Pennington, Charlotte Rebecca, additional, Hartmann, Helena, additional, Pownall, Madeleine, additional, Schmidt, Kathleen, additional, Elsherif, Mahmoud Medhat, additional, Breznau, Nate, additional, Robertson, Olly May, additional, Kalandadze, Tamara, additional, Yu, Shijun, additional, Baker, Bradley James, additional, O'Mahony, Aoife, additional, Olsnes, Jørgen Ø.-S., additional, Shaw, John J, additional, Gjoneska, Biljana, additional, Yamada, Yuki, additional, Röer, Jan Philipp, additional, Murphy, Jennifer, additional, Alzahawi, Shilaan, additional, Grinschgl, Sandra, additional, Oliveira, Catia Margarida, additional, Wingen, Tobias, additional, Yeung, Siu Kit, additional, Liu, Meng, additional, König, Laura M, additional, Albayrak-Aydemir, Nihan, additional, Lecuona, Oscar, additional, Micheli, Leticia, additional, and Evans, Thomas Rhys, additional

Published
2023
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47. A Guide for Social Science Journal Editors on Easing into Open Science (FULL GUIDE)

Author

Silverstein, Priya, primary, Elman, Colin, additional, Montoya, Amanda Kay, additional, McGillivray, Barbara, additional, Pennington, Charlotte Rebecca, additional, Harrison, Chase H., additional, Steltenpohl, Crystal Nicole, additional, Röer, Jan Philipp, additional, Corker, Katherine S., additional, Charron, Lisa M, additional, Elsherif, Mahmoud Medhat, additional, Malički, Mario, additional, Hayes-Harb, Rachel, additional, Grinschgl, Sandra, additional, Neal, Tess M.S., additional, Evans, Thomas Rhys, additional, Karhulahti, Veli-Matti, additional, Krenzer, William Leo Donald, additional, Belaus, Anabel, additional, Moreau, David, additional, Burin, DI, additional, Chin, Elizabeth, additional, Plomp, Esther, additional, Mayo-Wilson, Evan, additional, Lyle, Jared, additional, Adler, Jonathan M, additional, Bottesini, Julia G., additional, Schmidt, Kathleen, additional, Reneau, Kyrani, additional, Vilhuber, Lars, additional, Waltman, Ludo, additional, Gernsbacher, Morton Ann, additional, Plonski, Paul E., additional, Ghai, Sakshi, additional, Grant, Sean, additional, Christian, Thu-Mai Lewis, additional, Ngiam, William Xiang Quan, additional, and Syed, Moin, additional

Published
2023
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49. The effectiveness of preregistration in psychology: Assessing preregistration strictness and preregistration-study consistency

Author

Van den Akker, Olmo, primary, Bakker, Marjan, additional, van Assen, Marcel A. L. M., additional, Pennington, Charlotte Rebecca, additional, Verweij, Leone, additional, Elsherif, Mahmoud Medhat, additional, Claesen, Aline, additional, Gaillard, Stefan Daniel Michel, additional, Yeung, Siu Kit, additional, Frankenberger, Jan-Luca, additional, Krautter, Kai, additional, Cockcroft, Jamie Philip, additional, Kreuer, Katharina Sybille, additional, Evans, Thomas Rhys, additional, Heppel, Frédérique, additional, Schoch, Sarah Fiona, additional, Korbmacher, Max, additional, Yamada, Yuki, additional, Albayrak-Aydemir, Nihan, additional, Alzahawi, Shilaan, additional, Sarafoglou, Alexandra, additional, Sitnikov, Maksim, additional, Dechterenko, Filip, additional, Wingen, Sophia, additional, Grinschgl, Sandra, additional, Hartmann, Helena, additional, Stewart, Suzanne, additional, Oliveira, Catia Margarida, additional, Ashcroft-Jones, Sarah, additional, Baker, Bradley James, additional, and Wicherts, Jelte M., additional

Published
2023
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50. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

Author

Behera, Sairam, primary, Belyeu, Jonathan, additional, Chen, Xiao, additional, Paulin, Luis F., additional, Nguyen, Ngoc Quynh, additional, Newman, Emma, additional, Mahmoud, Medhat, additional, Menon, Vipin K., additional, Qi, Qibin, additional, Joshi, Parag, additional, Marcovina, Santica, additional, Rossi, Massimiliano, additional, Roller, Eric, additional, Han, James, additional, Onuchic, Vitor, additional, Avery, Christy L., additional, Ballantyne, Christie M., additional, Rodriguez, Carlos J., additional, Kaplan, Robert C., additional, Muzny, Donna M., additional, Metcalf, Ginger A., additional, Gibbs, Richard, additional, Yu, Bing, additional, Boerwinkle, Eric, additional, Eberle, Michael A., additional, and Sedlazeck, Fritz J., additional

Published
2023
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