Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
Farrell, Philip M., MD, PhD, Rosenstein, Beryl J., MD, White, Terry B., PhD, Accurso, Frank J., MD, Castellani, Carlo, MD, Cutting, Garry R., MD, Durie, Peter R., MD, FRCP, LeGrys, Vicky A., DrA, CLS, Massie, John, MBBS, FRACP, PhD, Parad, Richard B., MD, MPH, Rock, Michael J., MD, Campbell, Preston W., MD
Published in The Journal of pediatrics (01.08.2008)
Published in The Journal of pediatrics (01.08.2008)
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Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
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Published in Blood (16.03.2017)
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Inconclusive diagnosis of cystic fibrosis after newborn screening
Ooi, Chee Y, Castellani, Carlo, Keenan, Katherine, Avolio, Julie, Volpi, Sonia, Boland, Margaret, Kovesi, Tom, Bjornson, Candice, Chilvers, Mark A, Morgan, Lenna, van Wylick, Richard, Kent, Steven, Price, April, Solomon, Melinda, Tam, Karen, Taylor, Louise, Malitt, Kylie-Ann, Ratjen, Felix, Durie, Peter R, Gonska, Tanja
Published in Pediatrics (Evanston) (01.06.2015)
Published in Pediatrics (Evanston) (01.06.2015)
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Evidence for a Causal Relationship Between Early Exocrine Pancreatic Disease and Cystic Fibrosis-Related Diabetes: A Mendelian Randomization Study
SOAVE, David, MILLER, Melissa R, DURIE, Peter R, STRUG, Lisa J, KEENAN, Katherine, WEILI LI, JIAFEN GONG, WAN IP, ACCURSO, Frank, LEI SUN, ROMMENS, Johanna M, SONTAG, Marci
Published in Diabetes (New York, N.Y.) (01.06.2014)
Published in Diabetes (New York, N.Y.) (01.06.2014)
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In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency
Tourlakis, Marina E, Zhang, Siyi, Ball, Heather L, Gandhi, Rikesh, Liu, Hongrui, Zhong, Jian, Yuan, Julie S, Guidos, Cynthia J, Durie, Peter R, Rommens, Johanna M
Published in PLoS genetics (01.06.2015)
Published in PLoS genetics (01.06.2015)
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Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis
Ooi, Chee Y, Sutherland, Rosie, Castellani, Carlo, Keenan, Katherine, Boland, Margaret, Reisman, Joe, Bjornson, Candice, Chilvers, Mark A, van Wylick, Richard, Kent, Steven, Price, April, Mateos-Corral, Dimas, Hughes, Daniel, Solomon, Melinda, Zuberbuhler, Peter, Brusky, Janna, Durie, Peter R, Ratjen, Felix, Gonska, Tanja
Published in BMC pediatrics (22.10.2019)
Published in BMC pediatrics (22.10.2019)
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Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population
Polineni, Deepika, Piccorelli, Annalisa V, Hannah, William B, Dalrymple, Sarah N, Pace, Rhonda G, Durie, Peter R, Ling, Simon C, Knowles, Michael R, Stonebraker, Jaclyn R
Published in PloS one (11.10.2018)
Published in PloS one (11.10.2018)
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A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways
Soave, David, Corvol, Harriet, Panjwani, Naim, Gong, Jiafen, Li, Weili, Boëlle, Pierre-Yves, Durie, Peter R., Paterson, Andrew D., Rommens, Johanna M., Strug, Lisa J., Sun, Lei
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis
Miller, Melissa R., PhD, Soave, David, MS, Li, Weili, MS, Gong, Jiafen, PhD, Pace, Rhonda G., BS, Boëlle, Pierre-Yves, PhD, Cutting, Garry R., MD, Drumm, Mitchell L., PhD, Knowles, Michael R., MD, Sun, Lei, PhD, Rommens, Johanna M., PhD, Accurso, Frank, MD, Durie, Peter R., MD, FRCP(C), Corvol, Harriet, MD, PhD, Levy, Hara, MD, Sontag, Marci K., PhD, Strug, Lisa J., PhD
Published in The Journal of pediatrics (01.05.2015)
Published in The Journal of pediatrics (01.05.2015)
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Mutations in SBDS are associated with Shwachman-Diamond syndrome
Rommens, Johanna M, Boocock, Graeme R.B, Morrison, Jodi A, Popovic, Maja, Richards, Nicole, Ellis, Lynda, Durie, Peter R
Published in Nature genetics (01.01.2003)
Published in Nature genetics (01.01.2003)
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The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function
Kerr, Elizabeth N., PhD, Ellis, Lynda, RN, Dupuis, Annie, PhD, Rommens, Johanna M., PhD, Durie, Peter R., MD, FRPC (C)
Published in The Journal of pediatrics (01.03.2010)
Published in The Journal of pediatrics (01.03.2010)
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Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
Ginzberg, Hedy, Shin, Janey, Ellis, Lynda, Morrison, Jodi, Ip, Wan, Dror, Yigal, Freedman, Melvin, Heitlinger, Leo A., Belt, Mary Ann, Corey, Mary, Rommens, Johanna M., Durie, Peter R.
Published in The Journal of pediatrics (01.07.1999)
Published in The Journal of pediatrics (01.07.1999)
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Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease
Gonska, Tanja, Choi, Perry, Stephenson, Anne, Ellis, Lynda, Martin, Sheelagh, Solomon, Melinda, Dupuis, Annie, Dorfman, Ruslan, Zielenski, Julian, Ooi, Chee Y, Weiser, William, Durie, Peter R, Tullis, Elizabeth
Published in Chest (01.10.2012)
Published in Chest (01.10.2012)
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Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis
Henderson, Lindsay B, Doshi, Vishal K, Blackman, Scott M, Naughton, Kathleen M, Pace, Rhonda G, Moskovitz, Jackob, Knowles, Michael R, Durie, Peter R, Drumm, Mitchell L, Cutting, Garry R
Published in PLoS genetics (01.03.2012)
Published in PLoS genetics (01.03.2012)
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The Natural History of Shwachman-Diamond Syndrome–Associated Liver Disease from Childhood to Adulthood
Toiviainen-Salo, Sanna, MD, PhD, Durie, Peter R., MD, FRCPC, Numminen, Kirsti, MD, PhD, Heikkilä, Päivi, MD, PhD, Marttinen, Eino, MD, PhD, Savilahti, Erkki, MD, PhD, Mäkitie, Outi, MD, PhD
Published in The Journal of pediatrics (01.12.2009)
Published in The Journal of pediatrics (01.12.2009)
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