Reaching the End-Game for GWAS: Machine Learning Approaches for the Prioritization of Complex Disease Loci

por Nicholls, Hannah L., John, Christopher R., Watson, David S., Munroe, Patricia B., Barnes, Michael R., Cabrera, Claudia P.
Publicado 2020

Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty

por Saengkaew, Tansit, Mancini, Alessandra, Ruiz-Babot, Gerard, Cabrera, Claudia P, Barnes, Michael R, Dunkel, Leo, Guasti, Leonardo, Howard, Sasha
Publicado 2021

Enzymatic degradation of RNA causes widespread protein aggregation in cell and tissue lysates

por Aarum, Johan, Cabrera, Claudia P, Jones, Tania A, Rajendran, Shiron, Adiutori, Rocco, Giovannoni, Gavin, Barnes, Michael R, Malaspina, Andrea, Sheer, Denise
Publicado 2020

Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

por Saengkaew, Tansit, Ruiz-Babot, Gerard, David, Alessia, Mancini, Alessandra, Mariniello, Katia, Cabrera, Claudia P., Barnes, Michael R., Dunkel, Leo, Guasti, Leonardo, Howard, Sasha R.
Publicado 2021

EAP1 regulation of GnRH promoter activity is important for human pubertal timing

por Mancini, Alessandra, Howard, Sasha R, Cabrera, Claudia P, Barnes, Michael R, David, Alessia, Wehkalampi, Karoliina, Heger, Sabine, Lomniczi, Alejandro, Guasti, Leonardo, Ojeda, Sergio R, Dunkel, Leo
Publicado 2019

Uncovering Networks from Genome-Wide Association Studies via Circular Genomic Permutation

por Cabrera, Claudia P., Navarro, Pau, Huffman, Jennifer E., Wright, Alan F., Hayward, Caroline, Campbell, Harry, Wilson, James F., Rudan, Igor, Hastie, Nicholas D., Vitart, Veronique, Haley, Chris S.
Publicado 2012

Enhanced Energetic State and Protection from Oxidative Stress in Human Myoblasts Overexpressing BMI1

por Dibenedetto, Silvia, Niklison-Chirou, Maria, Cabrera, Claudia P., Ellis, Matthew, Robson, Lesley G., Knopp, Paul, Tedesco, Francesco Saverio, Ragazzi, Martina, Di Foggia, Valentina, Barnes, Michael R., Radunovic, Aleksandar, Marino, Silvia
Publicado 2017

HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes

por Howard, Sasha R, Oleari, Roberto, Poliandri, Ariel, Chantzara, Vasiliki, Fantin, Alessandro, Ruiz-Babot, Gerard, Metherell, Louise A, Cabrera, Claudia P, Barnes, Michael R, Wehkalampi, Karoliina, Guasti, Leonardo, Ruhrberg, Christiana, Cariboni, Anna, Dunkel, Leo
Publicado 2018

Signatures of inflammation and impending multiple organ dysfunction in the hyperacute phase of trauma: A prospective cohort study

por Cabrera, Claudia P., Manson, Joanna, Shepherd, Joanna M., Torrance, Hew D., Watson, David, Longhi, M. Paula, Hoti, Mimoza, Patel, Minal B., O’Dwyer, Michael, Nourshargh, Sussan, Pennington, Daniel J., Barnes, Michael R., Brohi, Karim
Publicado 2017

Correction: Signatures of inflammation and impending multiple organ dysfunction in the hyperacute phase of trauma: A prospective cohort study

por Cabrera, Claudia P., Manson, Joanna, Shepherd, Joanna M., Torrance, Hew D., Watson, David, Longhi, M. Paula, Hoti, Mimoza, Patel, Minal B., O’Dwyer, Michael, Nourshargh, Sussan, Pennington, Daniel J., Barnes, Michael R., Brohi, Karim
Publicado 2018

OR34-02 Somatic Transmembrane Domain Mutations of a Cell Adhesion Molecule, CADM1, Cause Primary Aldosteronism by Preventing Gap Junction Communication Between Adrenocortical Cells

por Wu, Xilin, Garg, Sumedha, Cabrera, Claudia P, Azizan, Elena, Zhou, Junhua, Mein, Chaz, Wozniak, Eva, Zhao, Wanfeng, Marker, Alison, Buss, Folma, Murakami, Masanori, Reincke, Martin, Takaoka, Yutaka, Beuschlein, Felix, Akihiko, Ito, Brown, Morris Jonathan
Publicado 2020

Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos

por Sofer, Tamar, Wong, Quenna, Hartwig, Fernando P., Taylor, Kent, Warren, Helen R., Evangelou, Evangelos, Cabrera, Claudia P., Levy, Daniel, Kramer, Holly, Lange, Leslie A., Horta, Bernardo L., Kerr, Kathleen F., Reiner, Alex P., Franceschini, Nora
Publicado 2017

Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty

por Howard, Sasha R., Guasti, Leonardo, Poliandri, Ariel, David, Alessia, Cabrera, Claudia P., Barnes, Michael R., Wehkalampi, Karoliina, O’Rahilly, Stephen, Aiken, Catherine E., Coll, Anthony P., Ma, Marcella, Rimmington, Debra, Yeo, Giles S. H., Dunkel, Leo
Publicado 2017

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

por Cottrell, Emily, Cabrera, Claudia P, Ishida, Miho, Chatterjee, Sumana, Greening, James, Wright, Neil, Bossowski, Artur, Dunkel, Leo, Deeb, Asma, Basiri, Iman Al, Rose, Stephen J, Mason, Avril, Bint, Susan, Ahn, Joo Wook, Hwa, Vivian, Metherell, Louise A, Moore, Gudrun E, Storr, Helen L
Publicado 2020

Genome-wide analysis of epistasis in body mass index using multiple human populations

por Wei, Wen-Hua, Hemani, Gib, Gyenesei, Attila, Vitart, Veronique, Navarro, Pau, Hayward, Caroline, Cabrera, Claudia P, Huffman, Jennifer E, Knott, Sara A, Hicks, Andrew A, Rudan, Igor, Pramstaller, Peter P, Wild, Sarah H, Wilson, James F, Campbell, Harry, Hastie, Nicholas D, Wright, Alan F, Haley, Chris S
Publicado 2012

Genome-Wide Analysis of Left Ventricular Image-Derived Phenotypes Identifies Fourteen Loci Associated With Cardiac Morphogenesis and Heart Failure Development

por Aung, Nay, Vargas, Jose D., Yang, Chaojie, Cabrera, Claudia P., Warren, Helen R., Fung, Kenneth, Tzanis, Evan, Barnes, Michael R., Rotter, Jerome I., Taylor, Kent D., Manichaikul, Ani W., Lima, Joao A.C., Bluemke, David A., Piechnik, Stefan K., Neubauer, Stefan, Munroe, Patricia B., Petersen, Steffen E.
Publicado 2019

LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling

por Mancini, Alessandra, Howard, Sasha R., Marelli, Federica, Cabrera, Claudia P., Barnes, Michael R., Sternberg, Michael J.E., Leprovots, Morgane, Hadjidemetriou, Irene, Monti, Elena, David, Alessia, Wehkalampi, Karoliina, Oleari, Roberto, Lettieri, Antonella, Vezzoli, Valeria, Vassart, Gilbert, Cariboni, Anna, Bonomi, Marco, Garcia, Marie Isabelle, Guasti, Leonardo, Dunkel, Leo
Publicado 2020

IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

por Howard, Sasha R, Guasti, Leonardo, Ruiz‐Babot, Gerard, Mancini, Alessandra, David, Alessia, Storr, Helen L, Metherell, Lousie A, Sternberg, Michael JE, Cabrera, Claudia P, Warren, Helen R, Barnes, Michael R, Quinton, Richard, de Roux, Nicolas, Young, Jacques, Guiochon‐Mantel, Anne, Wehkalampi, Karoliina, André, Valentina, Gothilf, Yoav, Cariboni, Anna, Dunkel, Leo
Publicado 2016

CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype

por Zhou, Junhua, Boulkroun, Sheerazed, Cabrera, Claudia P, Azizan, Elena A B, Fernandes-Rosa, Fabio, Cottrell, Emily, Argentesi, Giulia, Wu, Xilin, O’Toole, Sam, Marker, Alison, Jordan, Suzanne, Berney, Daniel M, Lines, Kate, Metherell, Louise, Teo, Ada, Thakker, Rajesh V, Drake, William, Wozniak, Eva, Mein, Charles A, Storr, Helen L, Zennaro, Maria-Christina, Brown, Morris J
Publicado 2021

SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause

por Zhou, Junhua, Cabrera, Claudia P, Azizan, Elena A B, Fernandes-Rosa, Fabio, Cottrell, Emily, Amar, Laurence, Argentesi, Giulia, Wu, Xilin, Marker, Alison, Jordan, Suzanne, Polubothu, Satyamaanasa, Berney, Daniel M, Tuthill, Antoinette, Karet, Fiona E, Metherell, Louise, Teo, Ada, Thakker, Rajesh V, Drake, William, Boulkroun, Sheerazed, Kinsler, Veronica, Storr, Helen Louise, Zennaro, Maria-Christina, Brown, Morris Jonathan
Publicado 2020