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1. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Author

Donkervoort, Sandra, Mohassel, Payam, OLeary, Melanie, Bonner, Devon, Hartley, Taila, Acquaye, Nicole, Brull, Astrid, Saporta, Mario, Dyment, David, Sampson, Jacinda, Pajusalu, Sander, Austin-Tse, Christina, Hurth, Kyle, Cohen, Julie, McWalter, Kirsty, Warman-Chardon, Jodi, Crunk, Amy, Foley, A, Mammen, Andrew, Wheeler, Matthew, ODonnell-Luria, Anne, Bönnemann, Carsten, and Mozaffar, Tahseen

Subjects
Adult, Humans, Muscular Diseases, Muscle, Skeletal, Actinin, Phenotype, Cardiomyopathies
Abstract

OBJECTIVE: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series. METHODS: We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant. RESULTS: We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of asymmetric, progressive, proximal, and distal lower extremity predominant muscle weakness. None of the patients have cardiomyopathy or respiratory insufficiency. Notably, all patients report Palestinian ethnicity, suggesting a possible founder ACTN2 variant, which was confirmed through haplotype analysis in two families. Muscle biopsies reveal an underlying myopathic process with disruption of the intermyofibrillar architecture, Type I fiber predominance and atrophy. MRI of the lower extremities demonstrate a distinct pattern of asymmetric muscle involvement with selective involvement of the hamstrings and adductors in the thigh, and anterior tibial group and soleus in the lower leg. Using an in vitro splicing assay, we show that c.1516A>G ACTN2 does not impair normal splicing. INTERPRETATION: This series further establishes ACTN2 as a muscle disease gene, now also including variants with a recessive inheritance mode, and expands the clinical spectrum of actinopathies to adult-onset progressive muscle disease.

Published
2024

2. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Author

Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica, Wang, Harold, Currall, Benjamin, OKeefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir, Whelan, Christopher, Hao, Stephanie, Weisburd, Ben, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan, Zhao, Xuefang, Austin-Tse, Christina, Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla, Lucente, Diane, Gauthier, Laura, Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, An, Joon-Yong, Dong, Shan, MacKenzie, Tippi, Devlin, Bernie, Gilmore, Kelly, Powell, Bradford, Brandt, Alicia, Vetrini, Francesco, DiVito, Michelle, MacArthur, Daniel, Hodge, Jennelle, ODonnell-Luria, Anne, Rehm, Heidi, Vora, Neeta, Levy, Brynn, Brand, Harrison, Wapner, Ronald, Talkowski, Michael, Norton, Mary, and Sanders, Stephan

Subjects
genome sequencing, karyotype, microarray, exome sequencing, structural variant, autism spectrum disorder, structural anomaly, prenatal, first-tier, diagnostic, Female, Pregnancy, Humans, Autism Spectrum Disorder, Pregnancy Trimester, First, Ultrasonography, Prenatal, Chromosome Mapping, Exome
Abstract

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal structural anomalies (FSAs). However, few studies have comprehensively evaluated its performance against current standard-of-care diagnostic tests: karyotype, chromosomal microarray (CMA), and exome sequencing (ES). To assess the clinical utility of GS, we compared its diagnostic yield against these three tests in 1,612 quartet families including an individual with ASD and in 295 prenatal families. Our GS analytic framework identified a diagnostic variant in 7.8% of ASD probands, almost 2-fold more than CMA (4.3%) and 3-fold more than ES (2.7%). However, when we systematically captured copy-number variants (CNVs) from the exome data, the diagnostic yield of ES (7.4%) was brought much closer to, but did not surpass, GS. Similarly, we estimated that GS could achieve an overall diagnostic yield of 46.1% in unselected FSAs, representing a 17.2% increased yield over karyotype, 14.1% over CMA, and 4.1% over ES with CNV calling or 36.1% increase without CNV discovery. Overall, GS provided an added diagnostic yield of 0.4% and 0.8% beyond the combination of all three standard-of-care tests in ASD and FSAs, respectively. This corresponded to nine GS unique diagnostic variants, including sequence variants in exons not captured by ES, structural variants (SVs) inaccessible to existing standard-of-care tests, and SVs where the resolution of GS changed variant classification. Overall, this large-scale evaluation demonstrated that GS significantly outperforms each individual standard-of-care test while also outperforming the combination of all three tests, thus warranting consideration as the first-tier diagnostic approach for the assessment of ASD and FSAs.

Published
2023

4. 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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5. Monogenic and Polygenic Contributions to QTc Prolongation in the Population.

Author

Nauffal, Victor, Morrill, Valerie N, Jurgens, Sean J, Choi, Seung Hoan, Hall, Amelia W, Weng, Lu-Chen, Halford, Jennifer L, Austin-Tse, Christina, Haggerty, Christopher M, Harris, Stephanie L, Wong, Eugene K, Alonso, Alvaro, Arking, Dan E, Benjamin, Emelia J, Boerwinkle, Eric, Min, Yuan-I, Correa, Adolfo, Fornwalt, Brandon K, Heckbert, Susan R, National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium, Kooperberg, Charles, Lin, Henry J, J F Loos, Ruth, Rice, Kenneth M, Gupta, Namrata, Blackwell, Thomas W, Mitchell, Braxton D, Morrison, Alanna C, Psaty, Bruce M, Post, Wendy S, Redline, Susan, Rehm, Heidi L, Rich, Stephen S, Rotter, Jerome I, Soliman, Elsayed Z, Sotoodehnia, Nona, Lunetta, Kathryn L, Ellinor, Patrick T, Lubitz, Steven A, and TOPMed Investigators

Subjects
National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Investigators, Humans, Long QT Syndrome, Electrocardiography, Heterozygote, Multifactorial Inheritance, Genome-Wide Association Study, Whole Genome Sequencing, QT interval, long QT syndrome, monogenic, polygenic, sudden cardiac death, Human Genome, Heart Disease, Prevention, Cardiovascular, Genetics, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundRare sequence variation in genes underlying cardiac repolarization and common polygenic variation influence QT interval duration. However, current clinical genetic testing of individuals with unexplained QT prolongation is restricted to examination of monogenic rare variants. The recent emergence of large-scale biorepositories with sequence data enables examination of the joint contribution of rare and common variations to the QT interval in the population.MethodsWe performed a genome-wide association study of the QTc in 84 630 UK Biobank participants and created a polygenic risk score (PRS). Among 26 976 participants with whole-genome sequencing and ECG data in the TOPMed (Trans-Omics for Precision Medicine) program, we identified 160 carriers of putative pathogenic rare variants in 10 genes known to be associated with the QT interval. We examined QTc associations with the PRS and with rare variants in TOPMed.ResultsFifty-four independent loci were identified by genome-wide association study in the UK Biobank. Twenty-one loci were novel, of which 12 were replicated in TOPMed. The PRS composed of 1 110 494 common variants was significantly associated with the QTc in TOPMed (ΔQTc/decile of PRS=1.4 ms [95% CI, 1.3 to 1.5]; P=1.1×10-196). Carriers of putative pathogenic rare variants had longer QTc than noncarriers (ΔQTc=10.9 ms [95% CI, 7.4 to 14.4]). Of individuals with QTc>480 ms, 23.7% carried either a monogenic rare variant or had a PRS in the top decile (3.4% monogenic, 21% top decile of PRS).ConclusionsQTc duration in the population is influenced by both rare variants in genes underlying cardiac repolarization and polygenic risk, with a sizeable contribution from polygenic risk. Comprehensive assessment of the genetic determinants of QTc prolongation includes incorporation of both polygenic and monogenic risk.

Published
2022

6. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

Author

Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, and O’Donnell-Luria, Anne

Published
2024
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7. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Author

Halford, Jennifer L, Morrill, Valerie N, Choi, Seung Hoan, Jurgens, Sean J, Melloni, Giorgio, Marston, Nicholas A, Weng, Lu-Chen, Nauffal, Victor, Hall, Amelia W, Gunn, Sophia, Austin-Tse, Christina A, Pirruccello, James P, Khurshid, Shaan, Rehm, Heidi L, Benjamin, Emelia J, Boerwinkle, Eric, Brody, Jennifer A, Correa, Adolfo, Fornwalt, Brandon K, Gupta, Namrata, Haggerty, Christopher M, Harris, Stephanie, Heckbert, Susan R, Hong, Charles C, Kooperberg, Charles, Lin, Henry J, Loos, Ruth JF, Mitchell, Braxton D, Morrison, Alanna C, Post, Wendy, Psaty, Bruce M, Redline, Susan, Rice, Kenneth M, Rich, Stephen S, Rotter, Jerome I, Schnatz, Peter F, Soliman, Elsayed Z, Sotoodehnia, Nona, Wong, Eugene K, Sabatine, Marc S, Ruff, Christian T, Lunetta, Kathryn L, Ellinor, Patrick T, and Lubitz, Steven A

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Good Health and Well Being, Disease Susceptibility, Endophenotypes, Humans, Long QT Syndrome, Virulence, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Abstract

Accurate and efficient classification of variant pathogenicity is critical for research and clinical care. Using data from three large studies, we demonstrate that population-based associations between rare variants and quantitative endophenotypes for three monogenic diseases (low-density-lipoprotein cholesterol for familial hypercholesterolemia, electrocardiographic QTc interval for long QT syndrome, and glycosylated hemoglobin for maturity-onset diabetes of the young) provide evidence for variant pathogenicity. Effect sizes are associated with pathogenic ClinVar assertions (P

Published
2022

8. Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Author

Choi, Seung Hoan, Jurgens, Sean J, Haggerty, Christopher M, Hall, Amelia W, Halford, Jennifer L, Morrill, Valerie N, Weng, Lu-Chen, Lagerman, Braxton, Mirshahi, Tooraj, Pettinger, Mary, Guo, Xiuqing, Lin, Henry J, Alonso, Alvaro, Soliman, Elsayed Z, Kornej, Jelena, Lin, Honghuang, Moscati, Arden, Nadkarni, Girish N, Brody, Jennifer A, Wiggins, Kerri L, Cade, Brian E, Lee, Jiwon, Austin-Tse, Christina, Blackwell, Tom, Chaffin, Mark D, Lee, Christina J-Y, Rehm, Heidi L, Roselli, Carolina, Regeneron Genetics Center, Redline, Susan, Mitchell, Braxton D, Sotoodehnia, Nona, Psaty, Bruce M, Heckbert, Susan R, Loos, Ruth JF, Vasan, Ramachandran S, Benjamin, Emelia J, Correa, Adolfo, Boerwinkle, Eric, Arking, Dan E, Rotter, Jerome I, Rich, Stephen S, Whitsel, Eric A, Perez, Marco, Kooperberg, Charles, Fornwalt, Brandon K, Lunetta, Kathryn L, Ellinor, Patrick T, Lubitz, Steven A, and NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium

Subjects
Regeneron Genetics Center, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Humans, Long QT Syndrome, Death, Sudden, Cardiac, Genetic Predisposition to Disease, Electrocardiography, Heterozygote, Female, Male, Genetic Variation, Exome Sequencing, death, sudden, cardiac, epidemiology, genetics, genome, population, Clinical Research, Cardiovascular, Genetics, Heart Disease, Human Genome, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, death, sudden, cardiac
Abstract

BackgroundAlterations in electrocardiographic (ECG) intervals are well-known markers for arrhythmia and sudden cardiac death (SCD) risk. While the genetics of arrhythmia syndromes have been studied, relations between electrocardiographic intervals and rare genetic variation at a population level are poorly understood.MethodsUsing a discovery sample of 29 000 individuals with whole-genome sequencing from Trans-Omics in Precision Medicine and replication in nearly 100 000 with whole-exome sequencing from the UK Biobank and MyCode, we examined associations between low-frequency and rare coding variants with 5 routinely measured electrocardiographic traits (RR, P-wave, PR, and QRS intervals and corrected QT interval).ResultsWe found that rare variants associated with population-based electrocardiographic intervals identify established monogenic SCD genes (KCNQ1, KCNH2, and SCN5A), a controversial monogenic SCD gene (KCNE1), and novel genes (PAM and MFGE8) involved in cardiac conduction. Loss-of-function and pathogenic SCN5A variants, carried by 0.1% of individuals, were associated with a nearly 6-fold increased odds of the first-degree atrioventricular block (P=8.4×10-5). Similar variants in KCNQ1 and KCNH2 (0.2% of individuals) were associated with a 23-fold increased odds of marked corrected QT interval prolongation (P=4×10-25), a marker of SCD risk. Incomplete penetrance of such deleterious variation was common as over 70% of carriers had normal electrocardiographic intervals.ConclusionsOur findings indicate that large-scale high-depth sequence data and electrocardiographic analysis identifies monogenic arrhythmia susceptibility genes and rare variants with large effects. Known pathogenic variation in conventional arrhythmia and SCD genes exhibited incomplete penetrance and accounted for only a small fraction of marked electrocardiographic interval prolongation.

Published
2021

9. Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Author

Stenton, Sarah L., O’Leary, Melanie C., Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O’Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W., Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O. B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L., and O’Donnell-Luria, Anne

Published
2024
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10. Genome Sequencing for Diagnosing Rare Diseases

Author

Wojcik, Monica H., primary, Lemire, Gabrielle, additional, Berger, Eva, additional, Zaki, Maha S., additional, Wissmann, Mariel, additional, Win, Wathone, additional, White, Susan M., additional, Weisburd, Ben, additional, Wieczorek, Dagmar, additional, Waddell, Leigh B., additional, Verboon, Jeffrey M., additional, VanNoy, Grace E., additional, Töpf, Ana, additional, Tan, Tiong Yang, additional, Syrbe, Steffen, additional, Strehlow, Vincent, additional, Straub, Volker, additional, Stenton, Sarah L., additional, Snow, Hana, additional, Singer-Berk, Moriel, additional, Silver, Josh, additional, Shril, Shirlee, additional, Seaby, Eleanor G., additional, Schneider, Ronen, additional, Sankaran, Vijay G., additional, Sanchis-Juan, Alba, additional, Russell, Kathryn A., additional, Reinson, Karit, additional, Ravenscroft, Gianina, additional, Radtke, Maximilian, additional, Popp, Denny, additional, Polster, Tilman, additional, Platzer, Konrad, additional, Pierce, Eric A., additional, Place, Emily M., additional, Pajusalu, Sander, additional, Pais, Lynn, additional, Õunap, Katrin, additional, Osei-Owusu, Ikeoluwa, additional, Opperman, Henry, additional, Okur, Volkan, additional, Oja, Kaisa Teele, additional, O’Leary, Melanie, additional, O’Heir, Emily, additional, Morel, Chantal F., additional, Merkenschlager, Andreas, additional, Marchant, Rhett G., additional, Mangilog, Brian E., additional, Madden, Jill A., additional, MacArthur, Daniel, additional, Lovgren, Alysia, additional, Lerner-Ellis, Jordan P., additional, Lin, Jasmine, additional, Laing, Nigel, additional, Hildebrandt, Friedhelm, additional, Hentschel, Julia, additional, Groopman, Emily, additional, Goodrich, Julia, additional, Gleeson, Joseph G., additional, Ghaoui, Roula, additional, Genetti, Casie A., additional, Gburek-Augustat, Janina, additional, Gazda, Hanna T., additional, Ganesh, Vijay S., additional, Ganapathi, Mythily, additional, Gallacher, Lyndon, additional, Fu, Jack M., additional, Evangelista, Emily, additional, England, Eleina, additional, Donkervoort, Sandra, additional, DiTroia, Stephanie, additional, Cooper, Sandra T., additional, Chung, Wendy K., additional, Christodoulou, John, additional, Chao, Katherine R., additional, Cato, Liam D., additional, Bujakowska, Kinga M., additional, Bryen, Samantha J., additional, Brand, Harrison, additional, Bönnemann, Carsten G., additional, Beggs, Alan H., additional, Baxter, Samantha M., additional, Bartolomaeus, Tobias, additional, Agrawal, Pankaj B., additional, Talkowski, Michael, additional, Austin-Tse, Christina, additional, Abou Jamra, Rami, additional, Rehm, Heidi L., additional, and O’Donnell-Luria, Anne, additional

Published
2024
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11. 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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12. Racial Disparities in Limb Amputations After Traumatic Vascular Injury.

Author

Tse, Christina, Grigorian, Areg, Nahmias, Jeffry, Kabutey, Nii-Kabu, Schubl, Sebastian, Beckord, Brian, Bowens, Nina, and de Virgilio, Christian

Subjects
Amputation, Axillosubclavian vessel injury, Femoral artery injury, Popliteal artery injury, Race, Physical Injury - Accidents and Adverse Effects, Clinical Research, Cardiovascular, Good Health and Well Being
Abstract

ObjectivesThe influence of race or ethnicity on limb loss after traumatic vascular injury is unclear. We sought to determine whether there were racial differences in rates of amputation between American Indians, blacks, Asians, and Hispanics compared to white patients following arterial axillosubclavian vessel injury (ASVI), femoral artery injury (FAI), or popliteal artery injury (PAI). As black race has been identified as an independent prognostic factor for postsurgical complication in trauma-associated lower extremity amputation, we further hypothesized that black race would be associated with a higher risk for limb loss after arterial ASVI, FAI, and PAI injury in a large national database.MethodsThe National Trauma Data Bank was queried for patients ≥16-years-old with arterial ASVI, FAI, or PAI to determine the risk of arm, above knee amputation (AKA), and below knee amputation (BKA), respectively. Covariates were included in separate multivariable logistic regression models for analysis. The reference group included white trauma patients.ResultsFrom 5,683,057 patients, 21,843 were identified with arterial ASVI, FAI, or PAI (

Published
2019

13. Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Author

Halford, Jennifer L., Morrill, Valerie N., Choi, Seung Hoan, Jurgens, Sean J., Melloni, Giorgio, Marston, Nicholas A., Weng, Lu-Chen, Nauffal, Victor, Hall, Amelia W., Gunn, Sophia, Austin-Tse, Christina A., Pirruccello, James P., Khurshid, Shaan, Rehm, Heidi L., Benjamin, Emelia J., Boerwinkle, Eric, Brody, Jennifer A., Correa, Adolfo, Fornwalt, Brandon K., Gupta, Namrata, Haggerty, Christopher M., Harris, Stephanie, Heckbert, Susan R., Hong, Charles C., Kooperberg, Charles, Lin, Henry J., Loos, Ruth J. F., Mitchell, Braxton D., Morrison, Alanna C., Post, Wendy, Psaty, Bruce M., Redline, Susan, Rice, Kenneth M., Rich, Stephen S., Rotter, Jerome I., Schnatz, Peter F., Soliman, Elsayed Z., Sotoodehnia, Nona, Wong, Eugene K., Sabatine, Marc S., Ruff, Christian T., Lunetta, Kathryn L., Ellinor, Patrick T., and Lubitz, Steven A.

Published
2022
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14. Best practices for the interpretation and reporting of clinical whole genome sequencing

Author

Austin-Tse, Christina A., Jobanputra, Vaidehi, Perry, Denise L., Bick, David, Taft, Ryan J., Venner, Eric, Gibbs, Richard A., Young, Ted, Barnett, Sarah, Belmont, John W., Boczek, Nicole, Chowdhury, Shimul, Ellsworth, Katarzyna A., Guha, Saurav, Kulkarni, Shashikant, Marcou, Cherisse, Meng, Linyan, Murdock, David R., Rehman, Atteeq U., Spiteri, Elizabeth, Thomas-Wilson, Amanda, Kearney, Hutton M., and Rehm, Heidi L.

Published
2022
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16. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Author

Brockman, Deanna G., Austin-Tse, Christina A., Pelletier, Renée C., Harley, Caroline, Patterson, Candace, Head, Holly, Leonard, Courtney Elizabeth, O’Brien, Kimberly, Mahanta, Lisa M., Lebo, Matthew S., Lu, Christine Y., Natarajan, Pradeep, Khera, Amit V., Aragam, Krishna G., Kathiresan, Sekar, Rehm, Heidi L., and Udler, Miriam S.

Published
2021
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17. Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Author

Weisburd, Ben, primary, Sharma, Rakshya, additional, Pata, Villem, additional, Reimand, Tiia, additional, Ganesh, Vijay S., additional, Austin-Tse, Christina, additional, Osei-Owusu, Ikeoluwa, additional, O'Heir, Emily, additional, O'Leary, Melanie, additional, Pais, Lynn, additional, Stafki, Seth A., additional, Daugherty, Audrey L., additional, Bonnemann, Carsten G., additional, Donkervoort, Sandra, additional, Haliloglu, Goknur, additional, Kang, Peter B., additional, Ravenscroft, Gianina, additional, Laing, Nigel, additional, Scott, Hamish S., additional, Topf, Ana, additional, Straub, Volker, additional, Pajusalu, Sander, additional, Ounap, Katrin, additional, Tiao, Grace, additional, Rehm, Heidi L., additional, and O'Donnell-Luria, Anne, additional

Published
2024
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18. RareACTN2Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

Author

Ranta-aho, Johanna, primary, Felice, Kevin J., additional, Jonson, Per Harald, additional, Sarparanta, Jaakko, additional, Palmio, Johanna, additional, Tasca, Giorgio, additional, Sabatelli, Mario, additional, Yvorel, Cédric, additional, Harzallah, Ines, additional, Touraine, Renaud, additional, Pais, Lynn, additional, Austin-Tse, Christina A., additional, Ganesh, Vijay, additional, O’Leary, Melanie C., additional, Rehm, Heidi L., additional, Hehir, Michael K., additional, Subramony, Sub, additional, Wu, Qian, additional, Udd, Bjarne, additional, and Savarese, Marco, additional

Published
2024
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19. Comparison of ultrasound-measured properties of the common carotid artery to tobacco smoke exposure in a cohort of Indonesian patients.

Author

Yu, Allen R, Hasjim, Bima, Yu, Luke E, Gabriel, Christopher, Anshus, Alexander, Lee, Jonathan B, Louthan, Michael J, Kim, Esther C, Lee, Katrina, Tse, Christina, Keown, Thomas, Lahham, Shadi, Alvarado, Maili, Bunch, Steven, Gari, Abdulatif, and Fox, J Christian

Subjects
Carotid artery thickness, Indonesia, Intimal thickness, Point of care ultrasound, Tobacco Smoke and Health, Heart Disease, Biomedical Imaging, Atherosclerosis, Cardiovascular, Tobacco, Prevention, Clinical Research, Good Health and Well Being, Clinical Sciences
Abstract

BackgroundThe purpose of this study was to use point-of-care ultrasound (POCUS) to investigate the relationship between tobacco smoke exposure and the characteristics of the common carotid artery (CCA). The effect of both primary and secondary smoking on CCA properties was evaluated.MethodsWe performed a prospective cross-sectional study across 20 primary care clinics in Bandung, West Java, Indonesia in July 2016. Point of care ultrasound was performed on a convenience sample of Indonesian patients presenting to clinic. The CCA wall stiffness and carotid intima-media thickness (CIMT) were measured during diastole and systole. These measurements were correlated with smoke exposure and cardiovascular disease.ResultsWe enrolled 663 patients in the study, with 426 patients enrolled in the smoking category and 237 patients enrolled in the second-hand smoke category. There was an overall positive correlation with the measured lifestyle factors and the ultrasound-measured variables in the group of individuals who smoked. For all variables, age seemed to contribute the most out of all of the lifestyle factors for the positive changes in CIMT and CCA wall stiffness.ConclusionOur data yielded correlations between CCA properties and cardiovascular risk, as well as between CIMT and arterial stiffness. We were also able to demonstrate an increase in thickness of the CIMT in patients who have been exposed by tobacco through the use of ultrasound. Further large scale studies comparing patients with multiple cardiac risk factors need to be performed to confirm the utility of ultrasound findings of cardiovascular disease and stroke.

Published
2017

20. Evaluation of a point of care ultrasound curriculum for Indonesian physicians taught by first-year medical students.

Author

Lee, Jonathan B, Tse, Christina, Keown, Thomas, Louthan, Michael, Gabriel, Christopher, Anshus, Alexander, Hasjim, Bima, Lee, Katrina, Kim, Esther, Yu, Luke, Yu, Allen, Lahham, Shadi, Bunch, Steven, Alvarado, Maili, Gari, Abdulatif, and Fox, John C

Subjects
Indonesia, Ultrasound education, Ultrasound teaching, Biomedical Imaging, Generic Health Relevance, Clinical Sciences
Abstract

BACKGROUND:The purpose of this study was to assess the short-term efficacy of a 4-week ultrasound curriculum taught by American first-year medical students to general practitioners working in public health care clinics, or puskesmas, in Bandung, Indonesia. METHODS:We performed a prospective, observational study of Indonesian health care practitioners from public clinics in Bandung, Indonesia. These practitioners were enrolled in a 4-week ultrasound training course taught by first-year American medical students. A total of six sessions were held comprising of 38 ultrasound milestones. A pre-course and post-course written exam and practical exam was taken by each participant. RESULTS:We enrolled 41 clinicians in the course. The average pre-course exam score was 35.2% with a 2.4% pass rate, whereas the average post-course exam score was 82.0% with a 92.7% pass rate. The average practical score at the completion of the course was 83.2% (SD=0.145) with 82.9% of the class passing (score above 75.0%). CONCLUSION:Our data suggests that first-year medical students can effectively teach ultrasound to physicians in Indonesia using a 4-week intensive ultrasound training course. Future studies are needed to determine the amount of training required for proficiency and to evaluate the physicians' perceptions of the student-instructors' depth of knowledge and skill in point of care ultrasound.

Published
2017

21. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Author

Lemire, Gabrielle, primary, Sanchis-Juan, Alba, additional, Russell, Kathryn, additional, Baxter, Samantha, additional, Chao, Katherine R., additional, Singer-Berk, Moriel, additional, Groopman, Emily, additional, Wong, Isaac, additional, England, Eleina, additional, Goodrich, Julia, additional, Pais, Lynn, additional, Austin-Tse, Christina, additional, DiTroia, Stephanie, additional, O’Heir, Emily, additional, Ganesh, Vijay S., additional, Wojcik, Monica H., additional, Evangelista, Emily, additional, Snow, Hana, additional, Osei-Owusu, Ikeoluwa, additional, Fu, Jack, additional, Singh, Mugdha, additional, Mostovoy, Yulia, additional, Huang, Steve, additional, Garimella, Kiran, additional, Kirkham, Samantha L., additional, Neil, Jennifer E., additional, Shao, Diane D., additional, Walsh, Christopher A., additional, Argili, Emanuela, additional, Le, Carolyn, additional, Sherr, Elliott H., additional, Gleeson, Joseph, additional, Shril, Shirlee, additional, Schneider, Ronen, additional, Hildebrandt, Friedhelm, additional, Sankaran, Vijay G., additional, Madden, Jill A., additional, Genetti, Casie A., additional, Beggs, Alan H., additional, Agrawal, Pankaj B., additional, Bujakowska, Kinga M., additional, Place, Emily, additional, Pierce, Eric A., additional, Donkervoort, Sandra, additional, Bönnemann, Carsten G., additional, Gallacher, Lyndon, additional, Stark, Zornitza, additional, Tan, Tiong, additional, White, Susan M., additional, Töpf, Ana, additional, Straub, Volker, additional, Fleming, Mark D., additional, Pollak, Martin R., additional, Õunap, Katrin, additional, Pajusalu, Sander, additional, Donald, Kirsten A., additional, Bruwer, Zandre, additional, Ravenscroft, Gianina, additional, Laing, Nigel G., additional, MacArthur, Daniel G., additional, Rehm, Heidi L., additional, Talkowski, Michael E., additional, Brand, Harrison, additional, and O’Donnell-Luria, Anne, additional

Published
2023
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22. Contributors

Author

Alves, Ana Catarina, primary, Austin-Tse, Christina Anne, additional, Bourbon, Mafalda, additional, Carvalho, Marcelo A., additional, Ceyhan-Birsoy, Ozge, additional, Charames, George S., additional, Chora, Joana Rita, additional, Colombo, Mara, additional, Cruz, Xavier de la, additional, den Dunnen, Johan T., additional, de Wind, Niels, additional, Diez, Orland, additional, Elias, Anna B.R., additional, Evans, D Gareth, additional, Feliubadaló, Lidia, additional, Fernandes, Vanessa C., additional, Fokkema, Ivo F.A.C., additional, Fortuno, Cristina, additional, Garrett, Alice, additional, Gasparini, Paolo, additional, Girotto, Giorgia, additional, González-Neira, Anna, additional, Gripp, Karen W., additional, Gutiérrez-Enríquez, Sara, additional, Harrison, Steven M., additional, Hoya, Miguel de la, additional, Ingles, Jodie, additional, Johnson, Renee, additional, Lerner-Ellis, Jordan, additional, Levy, Harvey, additional, Lázaro, Conxi, additional, Mason-Suares, Heather, additional, Medeiros, Ana Margarida, additional, Mester, Jessica L., additional, Moles-Fernández, Alejandro, additional, Monteiro, Alvaro N.A., additional, Morgan, Anna, additional, Nepomuceno, Thales C., additional, Núñez-Torres, Rocío, additional, Özkan, Selen, additional, Padilla, Natàlia, additional, Parsons, Michael T., additional, Pesaran, Tina F., additional, Pineda, Marta, additional, Radice, Paolo, additional, Rajabi, Farrah, additional, Richardson, Ebony, additional, Sabatini, Peter, additional, Sacharow, Stephanie, additional, Spurdle, Amanda, additional, Thompson, Bryony A., additional, Tudini, Emma, additional, Turnbull, Clare, additional, Vincent, Lisa M., additional, Walsh, Michael F., additional, and Watkins, Nicholas, additional

Published
2021
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25. DNM1L Variant Presenting as Adolescent-Onset Sensory Neuronopathy, Spasticity, Dystonia, and Ataxia.

Author

Wang, Alexander S., Lemire, Gabrielle, VanNoy, Grace E., Austin-Tse, Christina, O'Donnell-Luria, Anne, and Kilbane, Camilla

Subjects
STRABISMUS surgery, GENETIC mutation, NEUROLOGICAL disorders, MITOCHONDRIAL pathology, DOPA, DYSTONIA, GAIT disorders, CHARCOT-Marie-Tooth disease, PRAMIPEXOLE, GENOMICS, ATAXIA, CHILDREN
Abstract

DMN1L encodes for dynaminlike protein 1 (DLP1), which plays a key role in peroxisomal and mitochondrial fission. Individuals with heterozygous variants in DNM1L present with a wide range of neurologic symptoms, including encephalopathy, epilepsy, and motor deficits. Here we report on a woman presenting with adolescence onset of sensory neuronopathy, spasticity, dystonia, and ataxia. Trio genome sequencing identified a heterozygous variant in DNM1L (NM_012062.3 c.121G > A/p.Val41Met), which was thought to be pathogenic. This case describes the latest known symptomatic onset of DMN1L- related disease described in the literature. We highlight our approach to a challenging diagnostic workup and interpretation of a specific variant that has not been previously reported. Furthermore, the case highlights the diagnostic importance of utilizing genomic sequencing and research studies for patients with rare disease. [ABSTRACT FROM AUTHOR]

Published
2023
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26. Identification of ade novomutation inTLK1associated with a neurodevelopmental disorder and immunodeficiency

Author

Villamor-Payà, Marina, primary, Sanchiz-Calvo, María, additional, Smak, Jordann, additional, Pais, Lynn, additional, Sud, Malika, additional, Shankavaram, Uma, additional, Lovgren, Alysia Kern, additional, Austin-Tse, Christina, additional, Ganesh, Vijay S, additional, Gay, Marina, additional, Vilaseca, Marta, additional, Arauz-Garofalo, Gianluca, additional, Palenzuela, Lluís, additional, VanNoy, Grace, additional, O’Donnell-Luria, Anne, additional, and Stracker, Travis H., additional

Published
2023
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27. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Author

Wojcik, Monica H, primary, Lemire, Gabrielle, additional, Zaki, Maha S, additional, Wissmann, Mariel, additional, Win, Wathone, additional, White, Sue, additional, Weisburd, Ben, additional, Waddell, Leigh B, additional, Verboon, Jeffrey M, additional, VanNoy, Grace E, additional, Topf, Ana, additional, Tan, Tiong Yang, additional, Straub, Volker, additional, Stenton, Sarah L, additional, Snow, Hana, additional, Singer-Berk, Moriel, additional, Silver, Josh, additional, Shril, Shirlee, additional, Seaby, Eleanor G, additional, Schneider, Ronen, additional, Sankaran, Vijay G, additional, Sanchis-Juan, Alba, additional, Russell, Kathryn A, additional, Reinson, Karit, additional, Ravenscroft, Gina, additional, Pierce, Eric A, additional, Place, Emily M, additional, Pajusalu, Sander, additional, Pais, Lynn, additional, Ounap, Katrin, additional, Osei-Owusu, Ikeoluwa, additional, Okur, Volkan, additional, Oja, Kaisa Teele, additional, OLeary, Melanie, additional, OHeir, Emily, additional, Morel, Chantal, additional, Marchant, Rhett G, additional, Mangilog, Brian E, additional, Madden, Jill A, additional, MacArthur, Daniel, additional, Lovgren, Alysia, additional, Lerner-Ellis, Jordan P, additional, Lin, Jasmine, additional, Laing, Nigel, additional, Hildebrandt, Friedhelm, additional, Groopman, Emily, additional, Goodrich, Julia, additional, Gleeson, Joseph G, additional, Ghaoui, Roula, additional, Genetti, Casie A, additional, Gazda, Hanna, additional, Ganesh, Vijay S, additional, Ganapathi, Mythily, additional, Gallacher, Lyndon, additional, Fu, Jack, additional, Evangelista, Emily, additional, England, Eleina, additional, Donkervoort, Sandra, additional, DiTroia, Stephanie, additional, Cooper, Sandra T, additional, Chung, Wendy K, additional, Christodoulou, John, additional, Chao, Katherine R, additional, Cato, Liam D, additional, Bujakowska, Kinga M, additional, Bryen, Samantha J, additional, Brand, Harrison, additional, Bonnemann, Carsten, additional, Beggs, Alan H, additional, Baxter, Samantha M, additional, Agrawal, Pankaj B, additional, Talkowski, Michael, additional, Austin-Tse, Christina, additional, Rehm, Heidi L, additional, and ODonnell-Luria, Anne, additional

Published
2023
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28. Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

Author

Stenton, Sarah L., primary, O’Leary, Melanie, additional, Lemire, Gabrielle, additional, VanNoy, Grace E., additional, DiTroia, Stephanie, additional, Ganesh, Vijay S., additional, Groopman, Emily, additional, O’Heir, Emily, additional, Mangilog, Brian, additional, Osei-Owusu, Ikeoluwa, additional, Pais, Lynn S., additional, Serrano, Jillian, additional, Singer-Berk, Moriel, additional, Weisburd, Ben, additional, Wilson, Michael, additional, Austin-Tse, Christina, additional, Abdelhakim, Marwa, additional, Althagafi, Azza, additional, Babbi, Giulia, additional, Bellazzi, Riccardo, additional, Bovo, Samuele, additional, Carta, Maria Giulia, additional, Casadio, Rita, additional, Coenen, Pieter-Jan, additional, De Paoli, Federica, additional, Floris, Matteo, additional, Gajapathy, Manavalan, additional, Hoehndorf, Robert, additional, Jacobsen, Julius O.B., additional, Joseph, Thomas, additional, Kamandula, Akash, additional, Katsonis, Panagiotis, additional, Kint, Cyrielle, additional, Lichtarge, Olivier, additional, Limongelli, Ivan, additional, Lu, Yulan, additional, Magni, Paolo, additional, Mamidi, Tarun Karthik Kumar, additional, Martelli, Pier Luigi, additional, Mulargia, Marta, additional, Nicora, Giovanna, additional, Nykamp, Keith, additional, Pejaver, Vikas, additional, Peng, Yisu, additional, Pham, Thi Hong Cam, additional, Podda, Maurizio S., additional, Rao, Aditya, additional, Rizzo, Ettore, additional, Saipradeep, Vangala G, additional, Savojardo, Castrense, additional, Schols, Peter, additional, Shen, Yang, additional, Sivadasan, Naveen, additional, Smedley, Damian, additional, Soru, Dorian, additional, Srinivasan, Rajgopal, additional, Sun, Yuanfei, additional, Sunderam, Uma, additional, Tan, Wuwei, additional, Tiwari, Naina, additional, Wang, Xiao, additional, Wang, Yaqiong, additional, Williams, Amanda, additional, Worthey, Elizabeth A., additional, Yin, Rujie, additional, You, Yuning, additional, Zeiberg, Daniel, additional, Zucca, Susanna, additional, Bakolitsa, Constantina, additional, Brenner, Steven E., additional, Fullerton, Stephanie M, additional, Radivojac, Predrag, additional, Rehm, Heidi L., additional, and O’Donnell-Luria, Anne, additional

Published
2023
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29. P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*

Author

Austin-Tse, Christina, DiTroia, Stephanie, O'Leary, Melanie, VanNoy, Grace, Mangilog, Brian, Shah, Gulalai, Martinez, Eva, Serrano, Jillian, Pais, Lynn, O'Heir, Emily, Osei-Owusu, Ikeoluwa, Lemire, Gabrielle, Ganesh, Vijay, Stenton, Sarah, Amin, Mutaz, Socarras, Kayla, Singh, Mugdha, Hall, Stacey, Larsson, Katie, Singer-Berk, Moriel, Marten, Daniel, Wilson, Michael, Snow, Hana, Blankenmeister, Benjamin, Ma, Jialan, Weisburd, Ben, Sanchis-Juan, Alba, Brand, Harrison, Groopman, Emily, Lovgren, Alysia, Williamson, Clara, Hollyer, Marissa, England, Eleina, Seaby, Eleanor, Chao, Katherine, Goodrich, Julia, Baxter, Samantha, MacArthur, Daniel, Talkowski, Michael, Wojcik, Monica, O'Donnell-Luria, Anne, and Rehm, Heidi

Published
2024
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30. P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*

Author

DiStefano, Marina, Alkuraya, Fowzan, Amberger, Joanna, Austin-Tse, Christina, Austine, Ola, Balzotti, Marie, Berg, Jonathan, Bruford, Elspeth, Byrne, Alicia, Cibrian-Uhalte, Elena, Coffey, Alison, Firth, Helen, Hamosh, Ada, Hunt, Sarah, Klein, Teri, Kurtz, Catherine, Leigh, Sarah, Leong, Ivone, Lucano, Caterina, Maddirevula, Sateesh, O'Neill, Audrey, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Taylor, Julie, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Ware, James, Wayburn, Bess, Weller, Phillip, and Rehm, Heidi

Published
2024
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32. Abstract 14629: Rare Variants for Electrocardiographic Traits Identify Arrhythmia Susceptibility Genes

Author

Jurgens, Sean J, Choi, Seung Hoan, Haggerty, Christopher M, Hall, Amelia W, Halford, Jennifer, Morrill, Valerie, Weng, Lu Chen, Lagerman, Braxton, Mirshahi, Tooraj, Pettinger, Mary, Guo, Xiuqing, Kornej, Jelena, Lin, Honghuang, Moscati, Arden, Nadkarni, Girish, Brody, Jennifer, Wiggins, Kerri, Cade, Brian E, Lee, Jiwon, Austin-Tse, Christina, Blackwell, Tom, Chaffin, Mark, Lee, Christina J, Rehm, Heidi, Redline, Susan, Mitchell, Braxton D, Sotoodehnia, Nona, Psaty, Bruce M, Heckbert, Susan R, Loos, Ruth J, Vasan, Ramachandran S, Benjamin, Emelia J, Correa, Adolfo, Boerwinkle, Eric, Arking, Dan E, Rotter, Jerome I, Rich, Stephen, Whitsel, Eric A, Perez, Marco V, Kooperberg, Charles, Fornwalt, Brandon, Lunetta, Kathryn, Ellinor, Patrick T, and Lubitz, Steven A

Published
2020
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33. Phenotype and genetic analysis of data collected within the first year of NeuroDev

Author

Kipkemoi, Patricia, Kim, Heesu Ally, Christ, Bjorn, O’Heir, Emily, Allen, Jake, Austin-Tse, Christina, Baxter, Samantha, Brand, Harrison, Bryant, Sam, Buser, Nick, de Menil, Victoria, Eastman, Emma, Murugasen, Serini, Galvin, Alice, Kombe, Martha, Ngombo, Alfred, Mkubwa, Beatrice, Mwangi, Paul, Kipkoech, Collins, Lovgren, Alysia, MacArthur, Daniel G., Melly, Brigitte, Mwangasha, Katini, Martin, Alicia, Nkambule, Lethukuthula L., Sanchis-Juan, Alba, Singer-Berk, Moriel, Talkowski, Michael E., VanNoy, Grace, van der Merwe, Celia, Newton, Charles, O’Donnell-Luria, Anne, Abubakar, Amina, Donald, Kirsten A., and Robinson, Elise B.

Published
2023
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34. P523: The NeuroDev Study: Genetic characterization of neurodevelopmental disorders in African populations

Author

O'Heir, Emily, primary, Kipkemoi, Patricia, additional, Kim, Heesu Ally, additional, Christ, Bjorn, additional, Eastman, Emma, additional, van der Merwe, Celia, additional, Galvin, Alice, additional, Allen, Jake, additional, de Menil, Victoria, additional, Lovgren, Alysia, additional, Austin-Tse, Christina, additional, Abubakar, Amina, additional, Newton, Charles, additional, Donald, Kirsten, additional, O'Donnell-Luria, Anne, additional, and Robinson, Elise, additional

Published
2023
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35. P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

Author

DiStefano, Marina, primary, Amberger, Joanna, additional, Austin-Tse, Christina, additional, Balzotti, Marie, additional, Amin, Mutaz, additional, Berg, Jonathan, additional, Bocchini, Carol, additional, Bruford, Elspeth, additional, Alkuraya, Fowzan, additional, Coffey, Alison, additional, Collins, Heather, additional, Cunningham, Fiona, additional, Firth, Helen, additional, Fitzpatrick, David, additional, Einhorn, Yaron, additional, Goldstein, Jennifer, additional, Hamosh, Ada, additional, Leigh, Sarah, additional, Leong, Ivone, additional, Martin, Christa, additional, McDonagh, Ellen, additional, Puzriakova, Arina, additional, Rath, Ana, additional, Roberts, Angharad, additional, Radtke, Kelly, additional, Ramos, Erin, additional, Riggs, Erin, additional, Rodwell, Charlotte, additional, Sangkuhl, Katrin, additional, Snow, Catherine, additional, Stark, Zornitza, additional, Tahiliani, Jackie, additional, Ware, James, additional, Williams, Eleanor, additional, Wright, Caroline, additional, Yates, Michael, additional, Weller, Phillip, additional, and Rehm, Heidi, additional

Published
2023
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36. Erratum: Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes (Nature communications (2022) 13 1 (5106))

Author

Halford, Jennifer L., Morrill, Valerie N., Choi, Seung Hoan, Jurgens, Sean J., Melloni, Giorgio, Marston, Nicholas A., Weng, Lu-Chen, Nauffal, Victor, Hall, Amelia W., Gunn, Sophia, Austin-Tse, Christina A., Pirruccello, James P., Khurshid, Shaan, Rehm, Heidi L., Benjamin, Emelia J., Boerwinkle, Eric, Brody, Jennifer A., Correa, Adolfo, Fornwalt, Brandon K., Gupta, Namrata, Haggerty, Christopher M., Harris, Stephanie, Heckbert, Susan R., Hong, Charles C., Kooperberg, Charles, Lin, Henry J., Loos, Ruth J. F., Mitchell, Braxton D., Morrison, Alanna C., Post, Wendy, Psaty, Bruce M., Redline, Susan, Rice, Kenneth M., Rich, Stephen S., Rotter, Jerome I., Schnatz, Peter F., Soliman, Elsayed Z., Sotoodehnia, Nona, Wong, Eugene K., Sabatine, Marc S., Ruff, Christian T., Lunetta, Kathryn L., Ellinor, Patrick T., Lubitz, Steven A., Cardiology, Graduate School, and ACS - Heart failure & arrhythmias

Published
2022

37. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Author

DiStefano, Marina T., primary, Goehringer, Scott, additional, Babb, Lawrence, additional, Alkuraya, Fowzan S., additional, Amberger, Joanna, additional, Amin, Mutaz, additional, Austin-Tse, Christina, additional, Balzotti, Marie, additional, Berg, Jonathan S., additional, Birney, Ewan, additional, Bocchini, Carol, additional, Bruford, Elspeth A., additional, Coffey, Alison J., additional, Collins, Heather, additional, Cunningham, Fiona, additional, Daugherty, Louise C., additional, Einhorn, Yaron, additional, Firth, Helen V., additional, Fitzpatrick, David R., additional, Foulger, Rebecca E., additional, Goldstein, Jennifer, additional, Hamosh, Ada, additional, Hurles, Matthew R., additional, Leigh, Sarah E., additional, Leong, Ivone U.S., additional, Maddirevula, Sateesh, additional, Martin, Christa L., additional, McDonagh, Ellen M., additional, Olry, Annie, additional, Puzriakova, Arina, additional, Radtke, Kelly, additional, Ramos, Erin M., additional, Rath, Ana, additional, Riggs, Erin Rooney, additional, Roberts, Angharad M., additional, Rodwell, Charlotte, additional, Snow, Catherine, additional, Stark, Zornitza, additional, Tahiliani, Jackie, additional, Tweedie, Susan, additional, Ware, James S., additional, Weller, Phillip, additional, Williams, Eleanor, additional, Wright, Caroline F., additional, Yates, Thabo Michael, additional, and Rehm, Heidi L., additional

Published
2022
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39. Centers for Mendelian Genomics: A decade of facilitating gene discovery

Author

Baxter, Samantha M., primary, Posey, Jennifer E., additional, Lake, Nicole J., additional, Sobreira, Nara, additional, Chong, Jessica X., additional, Buyske, Steven, additional, Blue, Elizabeth E., additional, Chadwick, Lisa H., additional, Coban-Akdemir, Zeynep H., additional, Doheny, Kimberly F., additional, Davis, Colleen P., additional, Lek, Monkol, additional, Wellington, Christopher, additional, Jhangiani, Shalini N., additional, Gerstein, Mark, additional, Gibbs, Richard A., additional, Lifton, Richard P., additional, MacArthur, Daniel G., additional, Matise, Tara C., additional, Lupski, James R., additional, Valle, David, additional, Bamshad, Michael J., additional, Hamosh, Ada, additional, Mane, Shrikant, additional, Nickerson, Deborah A., additional, Rehm, Heidi L., additional, O’Donnell-Luria, Anne, additional, Adams, Marcia, additional, Aguet, François, additional, Akay, Gulsen, additional, Anderson, Peter, additional, Antonescu, Corina, additional, Arachchi, Harindra M., additional, Atik, Mehmed M., additional, Austin-Tse, Christina A., additional, Babb, Larry, additional, Bacus, Tamara J., additional, Bahrambeigi, Vahid, additional, Balasubramanian, Suganthi, additional, Bayram, Yavuz, additional, Beaudet, Arthur L., additional, Beck, Christine R., additional, Belmont, John W., additional, Below, Jennifer E., additional, Bilguvar, Kaya, additional, Boehm, Corinne D., additional, Boerwinkle, Eric, additional, Boone, Philip M., additional, Bowne, Sara J., additional, Brand, Harrison, additional, Buckingham, Kati J., additional, Byrne, Alicia B., additional, Calame, Daniel, additional, Campbell, Ian M., additional, Cao, Xiaolong, additional, Carvalho, Claudia, additional, Chander, Varuna, additional, Chang, Jaime, additional, Chao, Katherine R., additional, Chinn, Ivan K., additional, Clarke, Declan, additional, Collins, Ryan L., additional, Cummings, Beryl, additional, Dardas, Zain, additional, Dawood, Moez, additional, Delano, Kayla, additional, DiTroia, Stephanie P., additional, Doddapaneni, Harshavardhan, additional, Du, Haowei, additional, Du, Renqian, additional, Duan, Ruizhi, additional, Eldomery, Mohammad, additional, Eng, Christine M., additional, England, Eleina, additional, Evangelista, Emily, additional, Everett, Selin, additional, Fatih, Jawid, additional, Felsenfeld, Adam, additional, Francioli, Laurent C., additional, Frazar, Christian D., additional, Fu, Jack, additional, Gamarra, Emmanuel, additional, Gambin, Tomasz, additional, Gan, Weiniu, additional, Gandhi, Mira, additional, Ganesh, Vijay S., additional, Garimella, Kiran V., additional, Gauthier, Laura D., additional, Giroux, Danielle, additional, Gonzaga-Jauregui, Claudia, additional, Goodrich, Julia K., additional, Gordon, William W., additional, Griffith, Sean, additional, Grochowski, Christopher M., additional, Gu, Shen, additional, Gudmundsson, Sanna, additional, Hall, Stacey J., additional, Hansen, Adam, additional, Harel, Tamar, additional, Harmanci, Arif O., additional, Herman, Isabella, additional, Hetrick, Kurt, additional, Hijazi, Hadia, additional, Horike-Pyne, Martha, additional, Hsu, Elvin, additional, Hu, Jianhong, additional, Huang, Yongqing, additional, Hurless, Jameson R., additional, Jahl, Steve, additional, Jarvik, Gail P., additional, Jiang, Yunyun, additional, Johanson, Eric, additional, Jolly, Angad, additional, Karaca, Ender, additional, Khayat, Michael, additional, Knight, James, additional, Kolar, J. Thomas, additional, Kumar, Sushant, additional, Lalani, Seema, additional, Laricchia, Kristen M., additional, Larkin, Kathryn E., additional, Leal, Suzanne M., additional, Lemire, Gabrielle, additional, Lewis, Richard A., additional, Li, He, additional, Ling, Hua, additional, Lipson, Rachel B., additional, Liu, Pengfei, additional, Lovgren, Alysia Kern, additional, López-Giráldez, Francesc, additional, MacMillan, Melissa P., additional, Mangilog, Brian E., additional, Mano, Stacy, additional, Marafi, Dana, additional, Marosy, Beth, additional, Marshall, Jamie L., additional, Martin, Renan, additional, Marvin, Colby T., additional, Mawhinney, Michelle, additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mehaffey, Michelle, additional, Mekonnen, Betselote, additional, Meng, Xiaolu, additional, Mitani, Tadahiro, additional, Miyake, Christina Y., additional, Mohr, David, additional, Morris, Shaine, additional, Mullen, Thomas E., additional, Murdock, David R., additional, Murugan, Mullai, additional, Muzny, Donna M., additional, Myers, Ben, additional, Neira, Juanita, additional, Nguyen, Kevin K., additional, Nielsen, Patrick M., additional, Nudelman, Natalie, additional, O’Heir, Emily, additional, O’Leary, Melanie C., additional, Ongaco, Chrissie, additional, Orange, Jordan, additional, Osei-Owusu, Ikeoluwa A., additional, Paine, Ingrid S., additional, Pais, Lynn S., additional, Paschall, Justin, additional, Patterson, Karynne, additional, Pehlivan, Davut, additional, Pelle, Benjamin, additional, Penney, Samantha, additional, Perez de Acha Chavez, Jorge, additional, Pierce-Hoffman, Emma, additional, Poli, Cecilia M., additional, Punetha, Jaya, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Rodrigues, Eliete, additional, Roote, Gwendolin T., additional, Rosenfeld, Jill A., additional, Ryke, Erica L., additional, Sabo, Aniko, additional, Sanchez, Alice, additional, Schrauwen, Isabelle, additional, Scott, Daryl A., additional, Sedlazeck, Fritz, additional, Serrano, Jillian, additional, Shaw, Chad A., additional, Shelford, Tameka, additional, Shively, Kathryn M., additional, Singer-Berk, Moriel, additional, Smith, Joshua D., additional, Snow, Hana, additional, Snyder, Grace, additional, Solomonson, Matthew, additional, Son, Rachel G., additional, Song, Xiaofei, additional, Stankiewicz, Pawel, additional, Stephan, Taylorlyn, additional, Sutton, V. Reid, additional, Sveden, Abigail, additional, Sánchez, Diana Cornejo, additional, Tackett, Monica, additional, Talkowski, Michael, additional, Threlkeld, Machiko S., additional, Tiao, Grace, additional, Udler, Miriam S., additional, Vail, Laura, additional, Valivullah, Zaheer, additional, Valkanas, Elise, additional, VanNoy, Grace E., additional, Wang, Qingbo S., additional, Wang, Gao, additional, Wang, Lu, additional, Wangler, Michael F., additional, Watts, Nicholas A., additional, Weisburd, Ben, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, White, Janson J., additional, Williamson, Clara E., additional, Wilson, Michael W., additional, Wiszniewski, Wojciech, additional, Withers, Marjorie A., additional, Witmer, Dane, additional, Witzgall, Lauren, additional, Wohler, Elizabeth, additional, Wojcik, Monica H., additional, Wong, Isaac, additional, Wood, Jordan C., additional, Wu, Nan, additional, Xing, Jinchuan, additional, Yang, Yaping, additional, Yi, Qian, additional, Yuan, Bo, additional, Zeiger, Jordan E., additional, Zhang, Chaofan, additional, Zhang, Peng, additional, Zhang, Yan, additional, Zhang, Xiaohong, additional, Zhang, Yeting, additional, Zhang, Shifa, additional, Zoghbi, Huda, additional, and van den Veyver, Igna, additional

Published
2022
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40. seqr : A web‐based analysis and collaboration tool for rare disease genomics

Author

Pais, Lynn S., primary, Snow, Hana, additional, Weisburd, Ben, additional, Zhang, Shifa, additional, Baxter, Samantha M., additional, DiTroia, Stephanie, additional, O'Heir, Emily, additional, England, Eleina, additional, Chao, Katherine R., additional, Lemire, Gabrielle, additional, Osei‐Owusu, Ikeoluwa, additional, VanNoy, Grace E., additional, Wilson, Michael, additional, Nguyen, Kevin, additional, Arachchi, Harindra, additional, Phu, William, additional, Solomonson, Matthew, additional, Mano, Stacy, additional, O'Leary, Melanie, additional, Lovgren, Alysia, additional, Babb, Lawrence, additional, Austin‐Tse, Christina A., additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, and O'Donnell‐Luria, Anne, additional

Published
2022
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41. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

Author

Zech, Michael, primary, Kopajtich, Robert, additional, Steinbrücker, Katja, additional, Bris, Céline, additional, Gueguen, Naig, additional, Feichtinger, René G., additional, Achleitner, Melanie T., additional, Duzkale, Neslihan, additional, Périvier, Maximilien, additional, Koch, Johannes, additional, Engelhardt, Harald, additional, Freisinger, Peter, additional, Wagner, Matias, additional, Brunet, Theresa, additional, Berutti, Riccardo, additional, Smirnov, Dmitrii, additional, Navaratnarajah, Tharsini, additional, Rodenburg, Richard J.T., additional, Pais, Lynn S, additional, Austin‐Tse, Christina, additional, O'Leary, Melanie, additional, Boesch, Sylvia, additional, Jech, Robert, additional, Bakhtiari, Somayeh, additional, Jin, Sheng Chih, additional, Wilbert, Friederike, additional, Kruer, Michael C, additional, Wortmann, Saskia B., additional, Eckenweiler, Matthias, additional, Mayr, Johannes A., additional, Distelmaier, Felix, additional, Steinfeld, Robert, additional, Winkelmann, Juliane, additional, and Prokisch, Holger, additional

Published
2022
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42. Harmonizing variant classification for return of results in the All of Us Research Program

Author

Harrison, Steven M., primary, Austin‐Tse, Christina A., additional, Kim, Serra, additional, Lebo, Matthew, additional, Leon, Annette, additional, Murdock, David, additional, Radhakrishnan, Aparna, additional, Shirts, Brian H., additional, Steeves, Marcie, additional, Venner, Eric, additional, Gibbs, Richard A., additional, Jarvik, Gail P., additional, and Rehm, Heidi L., additional

Published
2021
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43. seqr : a web-based analysis and collaboration tool for rare disease genomics

Author

Pais, Lynn S., primary, Snow, Hana, additional, Weisburd, Ben, additional, Zhang, Shifa, additional, Baxter, Samantha, additional, DiTroia, Stephanie, additional, O’Heir, Emily, additional, England, Eleina, additional, Chao, Katherine, additional, Lemire, Gabrielle, additional, Osei-Owusu, Ikeoluwa, additional, VanNoy, Grace E., additional, Wilson, Michael, additional, Nguyen, Kevin, additional, Arachchi, Harindra, additional, Phu, William, additional, Solomonson, Matthew, additional, Mano, Stacy, additional, O’Leary, Melanie, additional, Lovgren, Alysia, additional, Babb, Lawrence, additional, Austin-Tse, Christina, additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, and O’Donnell-Luria, Anne, additional

Published
2021
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44. B-YIA1-02 MONOGENIC AND POLYGENIC CONTRIBUTIONS TO QTC PROLONGATION IN THE POPULATION

Author

Nauffal, Victor, primary, Morrill, Valerie N., additional, Jurgens, Sean S., additional, Austin-Tse, Christina, additional, Benjamin, Emelia J., additional, Boerwinkle, Eric, additional, Choi, Seung Hoan, additional, Correa, Adolfo, additional, Fornwalt, Brandon, additional, Haggerty, Christopher, additional, Halford, Jenifer, additional, Hall, Amelia, additional, Heckbert, Susan, additional, Kooperberg, Charles, additional, Lin, Henry, additional, Loos, Ruth, additional, Lunetta, Kathryn, additional, Mitchell, Braxton, additional, Morrison, Alanna, additional, Post, Wendy, additional, Psaty, Bruce, additional, Redline, Susan, additional, Rehm, Heidi, additional, Rotter, Jerome, additional, Soliman, Elsayed, additional, Sotoodehnia, Nona, additional, Weng, Lu-Chen, additional, Ellinor, Patrick T., additional, and Lubitz, Steven A., additional

Published
2021
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48. Harmonizing variant classification for return of results in the All of Us Research Program.

Author

Harrison, Steven M., Austin‐Tse, Christina A., Kim, Serra, Lebo, Matthew, Leon, Annette, Murdock, David, Radhakrishnan, Aparna, Shirts, Brian H., Steeves, Marcie, Venner, Eric, Gibbs, Richard A., Jarvik, Gail P., and Rehm, Heidi L.

Abstract

The All of Us Research Program (AoURP) is a historic effort to accelerate research and improve healthcare by generating and collating data from one million people in the United States. Participants will have the option to receive results from their genome analysis, including actionable findings in 59 gene‐disorder pairs for which disorder‐associated variants are recommended for return by the American College of Medical Genetics and Genomics. To ensure consistent reporting across the AoURP, in a prelaunch study the four participating clinical laboratories shared all variant classifications in the 59 genes of interest from their internal databases. Of the 11,813 unique variants classified by at least two of the four laboratories, classifications were concordant with regard to reportability for 99.1% (11,711), with only 0.9% (102) having reportability differences. Through variant reassessment, data sharing, and discussion of rationale, participating laboratories resolved all 102 reportable differences. These approaches will be maintained during routine AoU reporting to ensure continuous classification harmonization and consistent reporting within AoURP. [ABSTRACT FROM AUTHOR]

Published
2022
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49. Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Author

Morales, Ana, primary, Ing, Alexander, additional, Antolik, Christian, additional, Austin-Tse, Christina, additional, Baudhuin, Linnea M., additional, Bronicki, Lucas, additional, Cirino, Allison, additional, Hawley, Megan H., additional, Fietz, Michael, additional, Garcia, John, additional, Ho, Carolyn, additional, Ingles, Jodie, additional, Jarinova, Olga, additional, Johnston, Tami, additional, Kelly, Melissa A., additional, Kurtz, C. Lisa, additional, Lebo, Matt, additional, Macaya, Daniela, additional, Mahanta, Lisa, additional, Maleszewski, Joseph, additional, Manrai, Arjun K., additional, Murray, Mitzi, additional, Richard, Gabriele, additional, Semsarian, Chris, additional, Thomson, Kate L., additional, Winder, Tom, additional, Ware, James S., additional, Hershberger, Ray E., additional, Funke, Birgit H., additional, and Vatta, Matteo, additional

Published
2021
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50. Launch of the gene curation coalition database

Author

DiStefano, Marina, primary, Goehringer, Scott, additional, Amberger, Joanna, additional, Tse, Christina Austin, additional, Balzotti, Marie, additional, Berg, Jonathan, additional, Birney, Ewan, additional, Bocchini, Carol, additional, Bruford, Elspeth, additional, Coffey, Alison, additional, Collins, Heather, additional, Cunningham, Fiona, additional, Firth, Helen, additional, Fitzpatrick, David, additional, Goldstein, Jennifer, additional, Hamosh, Ada, additional, Hurles, Matthew, additional, Leigh, Sarah, additional, Leong, Ivone, additional, Martin, Christa, additional, McDonagh, Ellen, additional, Puzriakova, Arina, additional, Olry, Annie, additional, Rath, Ana, additional, Roberts, Angharad, additional, Radtke, Kelly, additional, Ramos, Erin, additional, Riggs, Erin, additional, Rodwell, Charlotte, additional, Snow, Catherine, additional, Stark, Zornitza, additional, Tahiliani, Jackie, additional, Ware, James, additional, Williams, Eleanor, additional, Wright, Caroline, additional, Yates, Michael, additional, and Rehm, Heidi, additional

Published
2021
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