Search Results - "Lu, James T"

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts by Cirulli, Elizabeth T., White, Simon, Read, Robert W., Elhanan, Gai, Metcalf, William J., Tanudjaja, Francisco, Fath, Donna M., Sandoval, Efren, Isaksson, Magnus, Schlauch, Karen A., Grzymski, Joseph J., Lu, James T., Washington, Nicole L.

“…Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960…”
Get full text

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis by Cheung, Yee Him, Gayden, Tenzin, Campeau, Philippe M., LeDuc, Charles A., Russo, Donna, Nguyen, Van-Hung, Guo, Jiancheng, Qi, Ming, Guan, Yanfang, Albrecht, Steffen, Moroz, Brenda, Eldin, Karen W., Lu, James T., Schwartzentruber, Jeremy, Malkin, David, Berghuis, Albert M., Emil, Sherif, Gibbs, Richard A., Burk, David L., Vanstone, Megan, Lee, Brendan H., Orchard, David, Boycott, Kym M., Chung, Wendy K., Jabado, Nada

“…Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA…”
Get full text

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase by Campeau, Philippe M., Lenk, Guy M., Lu, James T., Bae, Yangjin, Burrage, Lindsay, Turnpenny, Peter, Román Corona-Rivera, Jorge, Morandi, Lucia, Mora, Marina, Reutter, Heiko, Vulto-van Silfhout, Anneke T., Faivre, Laurence, Haan, Eric, Gibbs, Richard A., Meisler, Miriam H., Lee, Brendan H.

“…Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged…”
Get full text

SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads by Bolze, Alexandre, Luo, Shishi, White, Simon, Cirulli, Elizabeth T., Wyman, Dana, Dei Rossi, Andrew, Machado, Henrique, Cassens, Tyler, Jacobs, Sharoni, Schiabor Barrett, Kelly M., Tanudjaja, Francisco, Tsan, Kevin, Nguyen, Jason, Ramirez, Jimmy M., Sandoval, Efren, Wang, Xueqing, Wong, David, Becker, David, Laurent, Marc, Lu, James T., Isaksson, Magnus, Washington, Nicole L., Lee, William

“…We report on the sequencing of 74,348 SARS-CoV-2 positive samples collected across the United States and show that the Delta variant, first detected in the…”
Get full text

Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record by Elhanan, Gai, Kiser, Daniel, Neveux, Iva, Dabe, Shaun, Bolze, Alexandre, Metcalf, William J, Lu, James T, Grzymski, Joseph J

“…The clinical value of population-based genetic screening projects depends on the actions taken on the findings. The Healthy Nevada Project (HNP) is an…”
Get full text

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome by Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.

“…Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome…”
Get full text

Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population by Read, Robert W, Schlauch, Karen A, Lombardi, Vincent C, Cirulli, Elizabeth T, Washington, Nicole L, Lu, James T, Grzymski, Joseph J

“…Clinical conditions correlated with elevated triglyceride levels are well-known: coronary heart disease, hypertension, and diabetes. Underlying genetic and…”
Get full text

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation by Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng‐Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H

“…ABSTRACT In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′…”
Get full text

Thin collagen film scaffolds for retinal epithelial cell culture by Lu, James T, Lee, Christina J, Bent, Stacey F, Fishman, Harvey A, Sabelman, Eric E

“…Abstract Collagen films have been used in biological implantation and surgical grafts. The development of thin collagen films on the order of 10 μm thick that…”
Get full text

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia by Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Brendan H.

“…Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin,…”
Get full text

Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing by Lu, James T, Campeau, Philippe M, Lee, Brendan H

“…Newly cost-effective next-generation sequencing has led to an explosion of discoveries of novel genetic mutations that reveal the rampant “promiscuity” of…”
Get full text

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia by Murali, Chaya, Lu, James T, Jain, Mahim, Liu, David S, Lachman, Ralph, Gibbs, Richard A, Lee, Brendan H, Cohn, Daniel, Campeau, Philippe M

“…Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the…”
Get full text

Comprehensive Allele Genotyping in Critical Pharmacogenes Reduces Residual Clinical Risk in Diverse Populations by Luo, Shishi, Jiang, Ruomu, Grzymski, Joseph J., Lee, William, Lu, James T., Washington, Nicole L.

“…Genomic‐guided pharmaceutical prescribing is increasingly recognized as an important clinical application of genetics. Accurate genotyping of pharmacogenomic…”
Get full text

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta by Laine, Christine M, Joeng, Kyu Sang, Campeau, Philippe M, Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T, Pekkinen, Minna, Wessman, Maija, Heino, Terhi J, Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G, Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R, Cohn, Daniel H, Gibbs, Richard A, Lee, Brendan H, Mäkitie, Outi

“…This report identifies human skeletal diseases associated with mutations in WNT1 in a family with dominantly inherited early-onset osteoporosis and in another…”
Get full text

The genetic basis of DOORS syndrome: an exome-sequencing study by Campeau, Philippe M, MD, Kasperaviciute, Dalia, PhD, Lu, James T, PhD, Burrage, Lindsay C, PhD, Kim, Choel, PhD, Hori, Mutsuki, MD, Powell, Berkley R, MD, Stewart, Fiona, MBBS, Félix, Têmis Maria, PhD, van den Ende, Jenneke, MD, Wisniewska, Marzena, PhD, Kayserili, Hülya, MD, Rump, Patrick, PhD, Nampoothiri, Sheela, MSc, Aftimos, Salim, MD, Mey, Antje, MD, Nair, Lal D V, MD, Begleiter, Michael L, MSc, De Bie, Isabelle, PhD, Meenakshi, Girish, MBBS, Murray, Mitzi L, MD, Repetto, Gabriela M, MD, Golabi, Mahin, MD, Blair, Edward, MD, Male, Alison, MD, Giuliano, Fabienne, MD, Kariminejad, Ariana, MD, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, PhD, Wieczorek, Dagmar, MD, Tostevin, Anna, MSc, Wiszniewska, Joanna, MD, Cheung, Sau Wai, Prof, Hennekam, Raoul C, Prof, Gibbs, Richard A, Prof, Lee, Brendan H, Prof, Sisodiya, Sanjay M, Prof

“…Summary Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of…”
Get full text

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia by Egunsola, Adetutu T, Bae, Yangjin, Jiang, Ming-Ming, Liu, David S, Chen-Evenson, Yuqing, Bertin, Terry, Chen, Shan, Lu, James T, Nevarez, Lisette, Magal, Nurit, Raas-Rothschild, Annick, Swindell, Eric C, Cohn, Daniel H, Gibbs, Richard A, Campeau, Philippe M, Shohat, Mordechai, Lee, Brendan H

“…Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as…”
Get full text

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures” by Lee, Chae Syng, Fu, He, Baratang, Nissan, Rousseau, Justine, Kumra, Heena, Sutton, V. Reid, Niceta, Marcello, Ciolfi, Andrea, Yamamoto, Guilherme, Bertola, Débora, Marcelis, Carlo L., Lugtenberg, Dorien, Bartuli, Andrea, Kim, Choel, Hoover-Fong, Julie, Sobreira, Nara, Pauli, Richard, Bacino, Carlos, Krakow, Deborah, Parboosingh, Jillian, Yap, Patrick, Kariminejad, Ariana, McDonald, Marie T., Aracena, Mariana I., Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Lu, James T., Cohn, Dan H., Tartaglia, Marco, Lee, Brendan H., Reinhardt, Dieter P., Campeau, Philippe M.

“…Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to…”
Get full text

Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records by Schiabor Barrett, Kelly M., Bolze, Alexandre, Ni, Yunyun, White, Simon, Isaksson, Magnus, Sharma, Lavania, Levin, Elissa, Lee, William, Grzymski, Joseph J., Lu, James T., Washington, Nicole L., Cirulli, Elizabeth T.

“…Purpose To identify conditions that are candidates for population genetic screening based on population prevalence, penetrance of rare variants, and…”
Get full text

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing by Lu, James T, Ferber, Matthew, Hagenkord, Jill, Levin, Elissa, South, Sarah, Kang, Hyunseok P, Strong, Kimberly A, Bick, David P

“…The increasing quality and diminishing cost of next-generation sequencing has transformed our ability to interrogate large quantities of genetic information…”
Get full text

Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms by Lu, James T, Wang, Yi, Gibbs, Richard A, Yu, Fuli

“…Indels are an important cause of human variation and central to the study of human disease. The 1000 Genomes Project Low-Coverage Pilot identified over 1.3…”
Get full text