Characterization of Thrombosis in Patients with Proteus Syndrome

Por Keppler-Noreuil, Kim M., Lozier, Jay N., Sapp, Julie C., Biesecker, Leslie G.
Publicado no Am J Med Genet A (2017)

Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study

Por Howley, Meredith M., Keppler-Noreuil, Kim M., Cunniff, Christopher M., Browne, Marilyn L.
Publicado no Birth Defects Res (2018)

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

Por Reutter, Heiko, Keppler-Noreuil, Kim, E. Keegan, Catherine, Thiele, Holger, Yamada, Gen, Ludwig, Michael
Publicado no Curr Genomics (2016)

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway

Por Nathan, Neera, Keppler-Noreuil, Kim M., Biesecker, Leslie G., Moss, Joel, Darling, Thomas N.
Publicado no Dermatol Clin (2017)

Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies

Por Keppler-Noreuil, Kim M., Parker, Victoria E.R., Darling, Thomas N., Martinez-Agosto, Julian A.
Publicado no Am J Med Genet C Semin Med Genet (2016)

A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome

Por Sapp, Julie C., Buser, Anna, Burton-Akright, Jasmine, Keppler-Noreuil, Kim M., Biesecker, Leslie G.
Publicado no Am J Med Genet C Semin Med Genet (2019)

Somatic AKT1 Mutations Cause Meningiomas Colocalizing with a Characteristic Pattern of Cranial Hyperostosis

Por Keppler-Noreuil, Kim M., Baker, Eva H., Sapp, Julie C., Lindhurst, Marjorie J., Biesecker, Leslie G.
Publicado no Am J Med Genet A (2016)

Clinical and Risk Factor Analysis of Cloacal Defects in the National Birth Defects Prevention Study

Por Keppler-Noreuil, Kim M., Conway, Kristin M., Shen, Dereck, Rhoads, Anthony J., Carey, John C., Romitti, Paul A.
Publicado no Am J Med Genet A (2017)

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

Por Keppler-Noreuil, Kim M, Blumhorst, Catherine, Sapp, Julie C, Brinckman, Danielle, Johnston, Jennifer, Nopoulos, Peggy C, Biesecker, Leslie G
Publicado em 2011

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes

Por Keppler-Noreuil, Kim M., Burton-Akright, Jasmine, Lindhurst, Marjorie J., Shwetar, Jasmine, Sapp, Julie C., Darling, Thomas, Biesecker, Leslie G.
Publicado no Cold Spring Harb Mol Case Stud (2019)

Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome

Por Brinckman, Danielle D., Keppler-Noreuil, Kim M., Blumhorst, Catherine, Biesecker, Leslie G., Sapp, Julie C., Johnston, Jennifer J., Wiggs, Edythe A.
Publicado no Am J Med Genet A (2013)

Allelic heterogeneity of Proteus syndrome

Por Buser, Anna, Lindhurst, Marjorie J., Kondolf, Hannah C., Yourick, Miranda R., Keppler-Noreuil, Kim M., Sapp, Julie C., Biesecker, Leslie G.
Publicado no Cold Spring Harb Mol Case Stud (2020)

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome

Por Nathan, Neera R., Patel, Rachna, Crenshaw, Molly M., Lindhurst, Marjorie J., Olsen, Cara, Biesecker, Leslie G., Keppler-Noreuil, Kim M., Darling, Thomas N.
Publicado no J Am Acad Dermatol (2017)

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Por Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Publicado no Hum Genome Var (2015)

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Por Paciorkowski, Alex R, Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L, Bukshpun, Polina, Gabriel, Stacy B, Gleeson, Joseph G, Sherr, Elliott H, Dobyns, William B
Publicado em 2013

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation

Por Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Publicado no Am J Med Genet A (2014)

Twinning and major birth defects, National Birth Defects Prevention Study, 1997–2007

Por Dawson, April L, Tinker, Sarah C, Jamieson, Denise J, Hobbs, Charlotte A, Berry, R J, Rasmussen, Sonja A, Anderka, Marlene, Keppler-Noreuil, Kim M, Lin, Angela E, Reefhuis, Jennita
Publicado no J Epidemiol Community Health (2016)

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

Por Johnston, Jennifer J., Wen, Kuo-Kuang, Keppler-Noreuil, Kim, McKane, Melissa, Maiers, Jessica L., Greiner, Alexander, Sapp, Julie C., DeMali, Kris A., Rubenstein, Peter A., Biesecker, Leslie G.
Publicado em 2013

Assessment of Congenital Anomalies in Infants Born to Pregnant Women Enrolled in Clinical Trials

Por Rasmussen, Sonja A., Hernandez-Diaz, Sonia, Abdul-Rahman, Omar A., Sahin, Leyla, Petrie, Carey R., Keppler-Noreuil, Kim M., Frey, Sharon E., Mason, Robin M., Nesin, Mirjana, Carey, John C.
Publicado no Clin Infect Dis (2014)

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Por Johnston, Jennifer J., Sanchez-Contreras, Monica Y., Keppler-Noreuil, Kim M., Sapp, Julie, Crenshaw, Molly, Finch, NiCole A., Cormier-Daire, Valerie, Rademakers, Rosa, Sybert, Virginia P., Biesecker, Leslie G.
Publicado no Am J Hum Genet (2015)