Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, May, Sanyoura, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Journal Article
Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options
Sanyoura, May, Philipson, Louis H., Naylor, Rochelle
Published in Current diabetes reports (01.08.2018)
Published in Current diabetes reports (01.08.2018)
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Journal Article
Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
De Franco, Elisa, Saint-Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E, Aguilar-Bryan, Lydia, Bowman, Pamela, Arnoux, Jean-Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W, Calzada-León, Raúl, Harman, Bradley, Houghton, Jayne A L, Nishimura-Meguro, Elisa, Laver, Thomas W, Ellard, Sian, Del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné-Chantelot, Christine, Flanagan, Sarah E
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Journal Article
α Cell Function and Gene Expression Are Compromised in Type 1 Diabetes
Brissova, Marcela, Haliyur, Rachana, Saunders, Diane, Shrestha, Shristi, Dai, Chunhua, Blodgett, David M., Bottino, Rita, Campbell-Thompson, Martha, Aramandla, Radhika, Poffenberger, Gregory, Lindner, Jill, Pan, Fong Cheng, von Herrath, Matthias G., Greiner, Dale L., Shultz, Leonard D., Sanyoura, May, Philipson, Louis H., Atkinson, Mark, Harlan, David M., Levy, Shawn E., Prasad, Nripesh, Stein, Roland, Powers, Alvin C.
Published in Cell reports (Cambridge) (06.03.2018)
Published in Cell reports (Cambridge) (06.03.2018)
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Journal Article
Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis
Letourneau, Lisa R, Carmody, David, Wroblewski, Kristen, Denson, Anna M, Sanyoura, May, Naylor, Rochelle N, Philipson, Louis H, Greeley, Siri Atma W
Published in Diabetes care (01.10.2017)
Published in Diabetes care (01.10.2017)
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Journal Article
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA
Sanyoura, May, Jacobsen, Laura, Carmody, David, del Gaudio, Daniela, Alkorta-Aranburu, Gorka, Arndt, Kelly, Hu, Ying, Kobiernicki, Frances, Kusmartseva, Irina, Atkinson, Mark A, Philipson, Louis H, Schatz, Desmond, Campbell-Thompson, Martha, Greeley, Siri Atma W
Published in The journal of clinical endocrinology and metabolism (01.01.2018)
Published in The journal of clinical endocrinology and metabolism (01.01.2018)
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Journal Article
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants
Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.
Published in Diabetes research and clinical practice (01.05.2019)
Published in Diabetes research and clinical practice (01.05.2019)
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Journal Article
P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray
Douglas, Ganka, Meck, Jeanne, Dyer, Lindsay Havens, Brandon, Rhonda, Dyer, Lisa, Ferri, Patricia Fernandez, Liao, Mingjuan, Liu, Shuxi, Matyakhina, Ludmila, Rajcan-Separovic, Evica, Sack, Laura, Sanyoura, May, Wang, Wei, Kruszka, Paul
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon
Zalloua, Pierre A., Azar, Sami T., Delépine, Marc, Makhoul, Nadine J., Blanc, Hervé, Sanyoura, May, Lavergne, Anne, Stankov, Karmen, Lemainque, Arnaud, Baz, Patrick, Julier, Cécile
Published in Human molecular genetics (15.12.2008)
Published in Human molecular genetics (15.12.2008)
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Journal Article
Geographical Structure of the Y‐chromosomal Genetic Landscape of the Levant: A coastal‐inland contrast
El‐Sibai, Mirvat, Platt, Daniel E., Haber, Marc, Xue, Yali, Youhanna, Sonia C., Wells, R. Spencer, Izaabel, Hassan, Sanyoura, May F., Harmanani, Haidar, Bonab, Maziar Ashrafian, Behbehani, Jaafar, Hashwa, Fuad, Tyler‐Smith, Chris, Zalloua, Pierre A.
Published in Annals of human genetics (01.11.2009)
Published in Annals of human genetics (01.11.2009)
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Journal Article
Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks
Haliyur, Rachana, Tong, Xin, Sanyoura, May, Shrestha, Shristi, Lindner, Jill, Saunders, Diane C, Aramandla, Radhika, Poffenberger, Greg, Redick, Sambra D, Bottino, Rita, Prasad, Nripesh, Levy, Shawn E, Blind, Raymond D, Harlan, David M, Philipson, Louis H, Stein, Roland W, Brissova, Marcela, Powers, Alvin C
Published in The Journal of clinical investigation (02.01.2019)
Published in The Journal of clinical investigation (02.01.2019)
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Journal Article
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes
Sanyoura, May, Lundgrin, Erika L., Subramanian, Hari Prasanna, Yu, Min, Sodadasi, Priscilla, Greeley, Siri Atma W., MacLeish, Sarah, del Gaudio, Daniela
Published in Diabetes research and clinical practice (01.05.2021)
Published in Diabetes research and clinical practice (01.05.2021)
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Journal Article
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
Timberlake, Andrew T., McGee, Stephen, Allington, Garrett, Kiziltug, Emre, Wolfe, Erin M., Stiegler, Amy L., Boggon, Titus J., Sanyoura, May, Morrow, Michelle, Wenger, Tara L., Fernandes, Erica M., Caluseriu, Oana, Persing, John A., Jin, Sheng Chih, Lifton, Richard P., Kahle, Kristopher T., Kruszka, Paul
Published in American journal of human genetics (04.05.2023)
Published in American journal of human genetics (04.05.2023)
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Journal Article
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line
Kishore, Siddharth, De Franco, Elisa, Cardenas-Diaz, Fabian L., Letourneau-Freiberg, Lisa R., Sanyoura, May, Osorio-Quintero, Catherine, French, Deborah L., Greeley, Siri Atma W., Hattersley, Andrew T., Gadue, Paul
Published in Cell stem cell (02.07.2020)
Published in Cell stem cell (02.07.2020)
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Journal Article
Insulin Treatment and Clinical Outcomes in 67 Participants with Infancy-Onset Diabetes
LETOURNEAU, LISA R., CARMODY, DAVID, DENSON, ANNA M., SANYOURA, MAY, NAYLOR, ROCHELLE N., PHILIPSON, LOUIS H., GREELEY, SIRI ATMA W.
Published in Diabetes (New York, N.Y.) (01.07.2018)
Published in Diabetes (New York, N.Y.) (01.07.2018)
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Journal Article
Identifying Patients with GDM at Risk for GCK-MODY
DICKENS, LAURA T., LETOURNEAU, LISA R., SANYOURA, MAY, PHILIPSON, LOUIS H., GREELEY, SIRI ATMA W., NAYLOR, ROCHELLE N.
Published in Diabetes (New York, N.Y.) (01.07.2018)
Published in Diabetes (New York, N.Y.) (01.07.2018)
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Journal Article
178-LB: Insights from the University of Chicago Monogenic Diabetes Registry on Diagnosis and Management of Monogenic Diabetes
HARRIS, ANASTASIA, NAYLOR, ROCHELLE N., SANYOURA, MAY, GREELEY, SIRI ATMA W., KANDASAMY, BALAMURUGAN, PHILIPSON, LOUIS H., LETOURNEAU-FREIBERG, LISA R.
Published in Diabetes (New York, N.Y.) (01.06.2020)
Published in Diabetes (New York, N.Y.) (01.06.2020)
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Journal Article
Clinical Utility of the T1D Genetic Risk Score—Examples from the U.S. Monogenic Diabetes Registry
SANYOURA, MAY, LETOURNEAU, LISA R., NAYLOR, ROCHELLE N., PHILIPSON, LOUIS H., WEEDON, MICHAEL N., ORAM, RICHARD A., GREELEY, SIRI ATMA W.
Published in Diabetes (New York, N.Y.) (01.07.2018)
Published in Diabetes (New York, N.Y.) (01.07.2018)
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