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Kathleen M. Loomes, MD

Kathleen M. Loomes, MD

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Associate Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
The Children's Hospital of Philadelphia
Division of Gastroenterology, Hepatology and Nutrition, 7th floor
34th and Civic Center Blvd.
Philadelphia, PA 19104
Office: 267-426-7223
Fax: 267-426-7814
B.A. (Biology)
Rice University (Cum laude), 1988.
M.D. (Medicine)
University of Texas Southwestern Medical School, 1992.
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Perelman School of Medicine > Faculty > Search

Selected Publications

Underkoffler LA, Carr E, Nelson A, Ryan MJ, Schulz R, Loomes KM: Microarray Data Reveal Relationship between Jag1 and Ddr1 in mouse liver. PLOS One 8(12): e84383, December 2013.

Tsai Ellen A, Grochowski Christopher M, Loomes Kathleen M, Bessho Kazuhiko, Hakonarson Hakon, Bezerra Jorge A, Russo Pierre A, Haber Barbara A, Spinner Nancy B, Devoto Marcella: Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Human genetics Oct 2013.

Leonard Laura D, Chao Grace, Baker Alastair, Loomes Kathleen, Spinner Nancy B: Clinical utility gene card for: Alagille Syndrome (ALGS). European journal of human genetics : EJHG Jul 2013.

Clark Dinah M, Sherer Ilana, Deardorff Matthew A, Byrne Janice L B, Loomes Kathleen M, Nowaczyk Malgorzata J M, Jackson Laird G, Krantz Ian D: Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. American journal of medical genetics. Part A 158A(8): 1848-56, Aug 2012.

Lin Henry C, Le Hoang Phuc, Hutchinson Anne, Chao Grace, Gerfen Jennifer, Loomes Kathleen M, Krantz Ian, Kamath Binita M, Spinner Nancy B: Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. American journal of medical genetics. Part A 158A(5): 1005-13, May 2012.

Humphreys Ryan, Zheng Wei, Prince Lawrence S, Qu Xianghu, Brown Christopher, Loomes Kathleen, Huppert Stacey S, Baldwin Scott, Goudy Steven: Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients. Human molecular genetics 21(6): 1374-83, Mar 2012.

Kamath Binita Maya, Bauer Robert C, Loomes Kathleen M, Chao Grace, Gerfen Jennifer, Hutchinson Anne, Hardikar Winita, Hirschfield Gideon, Jara Paloma, Krantz Ian D, Lapunzina Pablo, Leonard Laura, Ling Simon, Ng Vicky Lee, Hoang Phuc Le, Piccoli David A, Spinner Nancy Bettina: NOTCH2 mutations in Alagille syndrome. Journal of medical genetics 49(2): 138-44, Feb 2012.

Kamath Binita M, Podkameni Gisele, Hutchinson Anne L, Leonard Laura D, Gerfen Jennifer, Krantz Ian D, Piccoli David A, Spinner Nancy B, Loomes Kathleen M, Meyers Kevin: Renal anomalies in Alagille syndrome: a disease-defining feature. American journal of medical genetics. Part A 158A(1): 85-9, Jan 2012.

Schrier Samantha A, Sherer Ilana, Deardorff Matthew A, Clark Dinah, Audette Lynn, Gillis Lynette, Kline Antonie D, Ernst Linda, Loomes Kathleen, Krantz Ian D, Jackson Laird G: Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. American journal of medical genetics. Part A 155A(12): 3007-24, Dec 2011.

Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, Horn D, Shults J, Leonard MB, Grimberg A and Loomes KM: Pathologic Lower Extremity Fractures in Children with Alagille Syndrome. J Pediatr Gastroenterol Nutr 51(1): 66-70, 2010.

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Last updated: 05/22/2014
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