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Author/Creator Piccoli, David A.

2. Compound heterozygous mutations in NEK8 in siblings with end‐stage renal disease with hepatic and cardiac anomalies. Issue 3 (24th December 2015)

Authors:
Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Gilbert, Melissa A.; Falsey, Alexandra M.; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M.; Piccoli, David A.; Devoto, Marcella; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
750
Record Type:
Journal Article
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3. Dynamic Contrast Magnetic Resonance Lymphangiography Localizes Lymphatic Leak to the Duodenum in Protein-Losing Enteropathy. Issue 1 (17th August 2021)

Authors:
Brownell, Jefferson N.; Biko, David M.; Mamula, Petar; Krishnamurthy, Ganesh; Escobar, Fernando; Srinivasan, Abhay; Laje, Pablo; Piccoli, David A.; Pinto, Erin; Smith, Christopher L.; Dori, Yoav
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 74:Issue 1(2022)
Page Start:
38
Record Type:
Journal Article
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4. Dynamic Contrast Magnetic Resonance Lymphangiography Localizes Lymphatic Leak to the Duodenum in Protein-Losing Enteropathy. Issue 1 (January 2022)

Authors:
Brownell, Jefferson N.; Biko, David M.; Mamula, Petar; Krishnamurthy, Ganesh; Escobar, Fernando; Srinivasan, Abhay; Laje, Pablo; Piccoli, David A.; Pinto, Erin; Smith, Christopher L.; Dori, Yoav
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 74:Issue 1(2022)
Page Start:
Record Type:
Journal Article
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5. Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. (18th August 2015)

Authors:
Mouzaki, Marialena; Bass, Lee M.; Sokol, Ronald J.; Piccoli, David A.; Quammie, Claudia; Loomes, Kathleen M.; Heubi, James E.; Hertel, Paula M.; Scheenstra, Rene; Furuya, Katryn; Kutsch, Erika; Spinner, Nancy B.; Robbins, Kristen N.; Venkat, Veena; Rosenthal, Philip; Beyene, Joseph; Baker, Alasta...
Journal:
Liver international
Issue:
Volume 36:Number 5(2016)
Page Start:
755
Record Type:
Journal Article
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6. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome. (3rd March 2015)

Authors:
Grochowski, Christopher M.; Rajagopalan, Ramakrishnan; Falsey, Alexandra M.; Loomes, Kathleen M.; Piccoli, David A.; Krantz, Ian D.; Devoto, Marcella; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 4(2015:Apr.)
Page Start:
891
Record Type:
Journal Article
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7. Histological features of ileitis differentiating pediatric Crohn disease from ulcerative colitis with backwash ileitis. Issue 2 (February 2018)

Authors:
Sahn, Benjamin; De Matos, Vera; Stein, Ronen; Ruchelli, Eduardo; Masur, Samuel; Klink, Andrew J.; Baldassano, Robert N.; Piccoli, David A.; Russo, Pierre; Mamula, Petar
Journal:
Digestive and liver disease
Issue:
Volume 50:Issue 2(2018)
Page Start:
147
Record Type:
Journal Article
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8. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Issue 2 (13th February 2023)

Authors:
Vandriel, Shannon M.; Li, Li‐Ting; She, Huiyu; Wang, Jian‐She; Gilbert, Melissa A.; Jankowska, Irena; Czubkowski, Piotr; Gliwicz‐Miedzińska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jérôme; Spinner, Nancy B.; Loomes, Kathleen M.; Piccoli, David A.; D'Antiga, Lorenzo; Nicastr...
Journal:
Hepatology
Issue:
Volume 77:Issue 2(2023)
Page Start:
512
Record Type:
Journal Article
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9. Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study. Issue 3 (22nd January 2020)

Authors:
Kamath, Binita M.; Ye, Wen; Goodrich, Nathan P.; Loomes, Kathleen M.; Romero, Rene; Heubi, James E.; Leung, Daniel H.; Spinner, Nancy B.; Piccoli, David A.; Alonso, Estella M.; Guthery, Stephen L.; Karpen, Saul J.; Mack, Cara L.; Molleston, Jean P.; Murray, Karen F.; Rosenthal, Philip; Squires, J...
Journal:
Hepatology communications
Issue:
Volume 4:Issue 3(2020)
Page Start:
387
Record Type:
Journal Article
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10. Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Issue 5 (6th February 2020)

Authors:
Gilbert, Melissa A.; Schultz‐Rogers, Laura; Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Wilkins, Benjamin J.; Biswas, Sawona; Conlin, Laura K.; Fiorino, Kristin N.; Dhamija, Radhika; Pack, Michael A.; Klee, Eric W.; Piccoli, David A.; Spinner, Nancy B.
Journal:
Human mutation
Issue:
Volume 41:Issue 5(2020)
Page Start:
973
Record Type:
Journal Article
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