The Children's Hospital of Philadelphia Division of Gastroenterology, Hepatology and Nutrition, 7th floor 34th and Civic Center Blvd.

Notch pathway
Liver development
Bile duct development
Role of Notch signaling in bone development and healing
Alagille syndrome
Pediatric liver disease

Associate Professor of Pediatrics at the Children's Hospital of Philadelphia (2010– present)
Assistant Professor of Pediatrics at University of Pennsylvania School of Medicine (2000 – 2006)
Assistant Professor of Pediatrics at the Children's Hospital of Philadelphia (2006 – 2010)
M.D., Medicine, University of Texas Southwestern Medical School (1992)
B.A., Biology, Rice University (Cum laude) (1988)
Selected Publications
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. 2013 Oct.
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. 2013 Jul.
Leonis Mike A, Alonso Estella M, Im Kelly, Belle Steven H, Squires Robert H. Chronic acetaminophen exposure in pediatric acute liver failure.. Pediatrics. Vol 131(3) . 2013 Mar:e740-6.
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. Vol 158A(8) . 2012 Aug:1848-56.
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. Vol 158A(5) . 2012 May:1005-13.
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. Vol 21(6) . 2012 Mar:1374-83.
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. Vol 49(2) . 2012 Feb:138-44.
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. Vol 158A(1) . 2012 Jan:85-9.
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. Vol 155A(12) . 2011 Dec:3007-24.
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. Vol 51(1) . 2010:66-70.