Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Vasques, Gabriela A ; Amano, Naoko ; Docko, Ana J ; Funari, Mariana F. A ; Quedas, Elisangela P. S ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Hasegawa, Tomonobu ; Jorge, Alexander A. L

United States: Endocrine Society

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Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

Franca, Monica M ; Han, Xingfa ; Funari, Mariana F A ; Lerario, Antonio M ; Nishi, Mirian Y ; Fontenele, Eveline G P ; Domenice, Sorahia ; Jorge, Alexander A L ; Garcia-Galiano, David ; Elias, Carol F ; Mendonca, Berenice B

Washington, DC: Endocrine Society

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Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

Freire, Bruna L ; Homma, Thais K ; Funari, Mariana F A ; Lerario, Antônio M ; Vasques, Gabriela A ; Malaquias, Alexsandra C ; Arnhold, Ivo J P ; Jorge, Alexander A L

Washington, DC: Endocrine Society

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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability

Dantas, Naiara C B ; Funari, Mariana F A ; Lerário, Antonio M ; Andrade, Nathalia L M ; Rezende, Raíssa C ; Cellin, Laurana P ; Alves, Crésio ; Crisostomo, Lindiane G ; Arnhold, Ivo J P ; Mendonca, Berenice ; Scalco, Renata C ; Jorge, Alexander A L

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Erratum to "Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project": [Annals of Oncology 32 (2021) 1626-1636]

Vega, D M ; Yee, L M ; McShane, L M ; Williams, P M ; Chen, L ; Vilimas, T ; Fabrizio, D ; Funari, V ; Newberg, J ; Bruce, L K ; Chen, S-J ; Baden, J ; Carl Barrett, J ; Beer, P ; Butler, M ; Cheng, J-H ; Conroy, J ; Cyanam, D ; Eyring, K ; Garcia, E ; Green, G ; Gregersen, V R ; Hellmann, M D ; Keefer, L A ; Lasiter, L ; Lazar, A J ; Li, M-C ; MacConaill, L E ; Meier, K ; Mellert, H ; Pabla, S ; Pallavajjalla, A ; Pestano, G ; Salgado, R ; Samara, R ; Sokol, E S ; Stafford, P ; Budczies, J ; Stenzinger, A ; Tom, W ; Valkenburg, K C ; Wang, X Z ; Weigman, V ; Xie, M ; Xie, Q ; Zehir, A ; Zhao, C ; Zhao, Y ; Stewart, M D ; Allen, J

England

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Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project

Vega, D.M. ; Yee, L.M. ; McShane, L.M. ; Williams, P.M. ; Chen, L. ; Vilimas, T. ; Fabrizio, D. ; Funari, V. ; Newberg, J. ; Bruce, L.K. ; Chen, S.-J. ; Baden, J. ; Carl Barrett, J. ; Beer, P. ; Butler, M. ; Cheng, J.-H. ; Conroy, J. ; Cyanam, D. ; Eyring, K. ; Garcia, E. ; Green, G. ; Gregersen, V.R. ; Hellmann, M.D. ; Keefer, L.A. ; Lasiter, L. ; Lazar, A.J. ; Li, M.-C. ; MacConaill, L.E. ; Meier, K. ; Mellert, H. ; Pabla, S. ; Pallavajjalla, A. ; Pestano, G. ; Salgado, R. ; Samara, R. ; Sokol, E.S. ; Stafford, P. ; Budczies, J. ; Stenzinger, A. ; Tom, W. ; Valkenburg, K.C. ; Wang, X.Z. ; Weigman, V. ; Xie, M. ; Xie, Q. ; Zehir, A. ; Zhao, C. ; Zhao, Y. ; Stewart, M.D. ; Allen, J.

England: Elsevier Ltd

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Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency

Scalco, Renata C ; Melo, Suzana S. J ; Pugliese-Pires, Patricia N ; Funari, Mariana F. A ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Mendonca, Berenice B ; Jorge, Alexander A. L

Bethesda, MD: Endocrine Society

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Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development

Gomes, Nathalia Lisboa ; Batista, Rafael Loch ; Nishi, Mirian Y ; Lerário, Antônio Marcondes ; Silva, Thatiana E ; de Moraes Narcizo, Amanda ; Benedetti, Anna Flávia Figueredo ; de Assis Funari, Mariana Ferreira ; Faria Junior, José Antônio ; Moraes, Daniela Rodrigues ; Quintão, Lia Mesquita Lousada ; Montenegro, Luciana Ribeiro ; Ferrari, Maria Teresa Martins ; Jorge, Alexander A ; Arnhold, Ivo J P ; Costa, Elaine Maria Frade ; Domenice, Sorahia ; Mendonca, Berenice Bilharinho

United States: Oxford University Press

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Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Gordon, Adam S ; Tabor, Holly K ; Johnson, Andrew D ; Snively, Beverly M ; Assimes, Themistocles L ; Auer, Paul L ; Ioannidis, John P A ; Peters, Ulrike ; Robinson, Jennifer G ; Sucheston, Lara E ; Wang, Danxin ; Sotoodehnia, Nona ; Rotter, Jerome I ; Psaty, Bruce M ; Jackson, Rebecca D ; Herrington, David M ; O'Donnell, Christopher J ; Reiner, Alexander P ; Rich, Stephen S ; Rieder, Mark J ; Bamshad, Michael J ; Nickerson, Deborah A

England: Oxford University Press

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Multigene Sequencing AnalysisofChildrenBornSmall for Gestational Age With Isolated Short Stature

Freire, Bruna L ; Homma, Thais K ; Funari, Mariana F. A ; Lerario, Antonio M ; Vasques, Gabriela A ; Malaquias, Alexsandra C ; Arnhold, Ivo J. P ; Jorge, Alexander A. L

Oxford University Press

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