BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension von Machado, Rajiv D, Pauciulo, Michael W., Thomson, Jennifer R., Lane, Kirk B., Morgan, Neil V., Wheeler, Lisa, Phillips III, John A., Newman, John, Williams, Denise, Galiè, Nazzareno, Manes, Alessandra, McNeil, Keith, Yacoub, Magdi, Mikhail, Ghada, Rogers, Paula, Corris, Paul, Humbert, Marc, Donnai, Dian, Martensson, Gunnar, Tranebjaerg, Lisbeth, Loyd, James E., Trembath, Richard C., Nichols, William C.

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Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases von Schuler, Bryce A, Nelson, Erica T, Koziura, Mary, Cogan, Joy D, Hamid, Rizwan, Phillips, 3rd, John A

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Short telomeres are a risk factor for idiopathic pulmonary fibrosis von Alder, Jonathan K, Chen, Julian J.-L, Lancaster, Lisa, Danoff, Sonye, Su, Shu-chih, Cogan, Joy D, Vulto, Irma, Xie, Mingyi, Qi, Xiaodong, Tuder, Rubin M, Phillips, John A. III, Lansdorp, Peter M, Loyd, James E, Armanios, Mary Y

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Multilocus Analysis of Hypertension: A Hierarchical Approach von Williams, Scott M., Ritchie, Marylyn D., Phillips, John A., Dawson, Elliot, Prince, Melissa, Dzhura, Elvira, Willis, Alecia, Semenya, Amma, Summar, Marshall, White, Bill C., Addy, Jonathan H., Kpodonu, John, Wong, Lee-Jun, Felder, Robin A., Jose, Pedro A., Moore, Jason H.

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Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele von Hamid, Rizwan, Cogan, Joy D, Hedges, Lora K, Austin, Eric, Phillips, John A. III, Newman, John H, Loyd, James E

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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... von Ezell, Kimberly M., Furuta, Yutaka, Oglesbee, Devin, Pivnick, Eniko K., Rinker, David, Sheehan, Jonathan H., Tinker, Rory J., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Neumann, Serena, Corner, Brian, Koziura, Mary, Phillips, John A.

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BMPR2 expression is suppressed by signaling through the estrogen receptor von Austin, Eric D, Hamid, Rizwan, Hemnes, Anna R, Loyd, James E, Blackwell, Tom, Yu, Chang, Phillips Iii, John A, Gaddipati, Radhika, Gladson, Santhi, Gu, Everett, West, James, Lane, Kirk B

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Mutations in PROP1 cause familial combined pituitary hormone deficiency von Wu, Wei, Cogan, Joy D., Pfäffle, Roland W., Dasen, Jeremy S., Frisch, Herwig, O'Connell, Shawn M., Flynn, Sarah E., Brown, Milton R., Mullis, Primus E., Parks, John S., Phillips III, John A., Rosenfeld, Michael G.

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A single nucleotide polymorphism of the cholecystokinin-B receptor predicts risk for pancreatic cancer von Smith, Jill P., Harms, John, Matters, Gail L., McGovern, Christopher O., Ruggiero, Francesca M., Liao, Jiangang, Fino, Kristin K., Ortega, Emily E., Gilius, Evan L., Phillips III, John A.

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The molecular genetics of growth hormone deficiency von PROCTER, A. M, PHILLIPS, J. A, COOPER, D. N

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts von Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.

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Genetics and Genomics of Pulmonary Arterial Hypertension von Machado, Rajiv D., PhD, Eickelberg, Oliver, MD, Elliott, C. Gregory, MD, Geraci, Mark W., MD, Hanaoka, Masayuki, MD, PhD, Loyd, James E., MD, Newman, John H., MD, Phillips, John A., MD, Soubrier, Florent, MD, PhD, Trembath, Richard C., BSc, Chung, Wendy K., MD, PhD

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Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis von Armanios, Mary Y, Chen, Julian J.-L, Cogan, Joy D, Alder, Jonathan K, Ingersoll, Roxann G, Markin, Cheryl, Lawson, William E, Xie, Mingyi, Vulto, Irma, Phillips, John A, Lansdorp, Peter M, Greider, Carol W, Loyd, James E

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enteropathy of prostaglandin deficiency von Adler, David H, Phillips, John A. III, Cogan, Joy D, Iverson, Tina M, Schnetz-Boutaud, Nathalie, Stein, Jeffrey A, Brenner, David A, Milne, Ginger L, Morrow, Jason D, Boutaud, Oliver, Oates, John A

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Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network von Gimeno, Alex F, Tinker, Rory J, Furuta, Yukata, Phillips, 3rd, John A

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Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease von Kropski, Jonathan A, Pritchett, Jason M, Zoz, Donald F, Crossno, Peter F, Markin, Cheryl, Garnett, Errine T, Degryse, Amber L, Mitchell, Daphne B, Polosukhin, Vasiliy V, Rickman, Otis B, Choi, Leena, Cheng, Dong-Sheng, McConaha, Melinda E, Jones, Brittany R, Gleaves, Linda A, McMahon, Frank B, Worrell, John A, Solus, Joseph F, Ware, Lorraine B, Lee, Jae Woo, Massion, Pierre P, Zaynagetdinov, Rinat, White, Eric S, Kurtis, Jonathan D, Johnson, Joyce E, Groshong, Steve D, Lancaster, Lisa H, Young, Lisa R, Steele, Mark P, Phillips Iii, John A, Cogan, Joy D, Loyd, James E, Lawson, William E, Blackwell, Timothy S

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Probable digenic inheritance of Diamond–Blackfan anemia von Furuta, Yutaka, Tinker, Rory J, Gulsevin, Alican, Neumann, Serena M., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Liu, Qi, Chen, Hua‐Chang, Joos, Karen M., Phillips, John A.

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The contribution of mosaicism to genetic diseases and de novo pathogenic variants von Tinker, Rory J, Bastarache, Lisa, Ezell, Kimberly, Kobren, Shilpa Nadimpalli, Esteves, Cecilia, Rosenfeld, Jill A, Macnamara, Ellen F, Hamid, Rizwan, Cogan, Joy D, Rinker, David, Mukharjee, Souhrid, Glass, Ian, Dipple, Katrina, Phillips, 3rd, John A

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The Clinical Spectrum of Mosaic Genetic Disease von Geiger, Hanabi, Furuta, Yutaka, van Wyk, Suné, Phillips, 3rd, John A, Tinker, Rory J

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A Novel SHOC2 Variant in Rasopathy von Hannig, Vickie, Jeoung, Myoungkun, Jang, Eun Ryoung, Phillips III, John A., Galperin, Emilia

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