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1. Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia

Author

Marcus, Joseph H., Posth, Cosimo, Ringbauer, Harald, Lai, Luca, Skeates, Robin, Sidore, Carlo, Beckett, Jessica, Furtwängler, Anja, Olivieri, Anna, Chiang, Charleston W. K., Al-Asadi, Hussein, Dey, Kushal, Joseph, Tyler A., Liu, Chi-Chun, Der Sarkissian, Clio, Radzevičiūtė, Rita, Michel, Megan, Gradoli, Maria Giuseppina, Marongiu, Patrizia, Rubino, Salvatore, Mazzarello, Vittorio, Rovina, Daniela, La Fragola, Alessandra, Serra, Rita Maria, Bandiera, Pasquale, Bianucci, Raffaella, Pompianu, Elisa, Murgia, Clizia, Guirguis, Michele, Orquin, Rosana Pla, Tuross, Noreen, van Dommelen, Peter, Haak, Wolfgang, Reich, David, Schlessinger, David, Cucca, Francesco, Krause, Johannes, and Novembre, John

Published
2020
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2. Genomic history of the Sardinian population

Author

Chiang, Charleston W. K., Marcus, Joseph H., Sidore, Carlo, Biddanda, Arjun, Al-Asadi, Hussein, Zoledziewska, Magdalena, Pitzalis, Maristella, Busonero, Fabio, Maschio, Andrea, Pistis, Giorgio, Steri, Maristella, Angius, Andrea, Lohmueller, Kirk E., Abecasis, Goncalo R., Schlessinger, David, Cucca, Francesco, and Novembre, John

Published
2018
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7. Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

Author

Marcus, Joseph H., primary, Posth, Cosimo, additional, Ringbauer, Harald, additional, Lai, Luca, additional, Skeates, Robin, additional, Sidore, Carlo, additional, Beckett, Jessica, additional, Furtwängler, Anja, additional, Olivieri, Anna, additional, Chiang, Charleston, additional, Al-Asadi, Hussein, additional, Dey, Kushal, additional, Joseph, Tyler A., additional, Der Sarkissian, Clio, additional, Radzevičiūtė, Rita, additional, Gradoli, Maria Giuseppina, additional, Haak, Wolfgang, additional, Reich, David, additional, Schlessinger, David, additional, Cucca, Francesco, additional, Krause, Johannes, additional, and Novembre, John, additional

Published
2019
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8. Overexpression of the Cytokine BAFF and Autoimmunity Risk

Author

Steri, Maristella, primary, Orrù, Valeria, additional, Idda, M. Laura, additional, Pitzalis, Maristella, additional, Pala, Mauro, additional, Zara, Ilenia, additional, Sidore, Carlo, additional, Faà, Valeria, additional, Floris, Matteo, additional, Deiana, Manila, additional, Asunis, Isadora, additional, Porcu, Eleonora, additional, Mulas, Antonella, additional, Piras, Maria G., additional, Lobina, Monia, additional, Lai, Sandra, additional, Marongiu, Mara, additional, Serra, Valentina, additional, Marongiu, Michele, additional, Sole, Gabriella, additional, Busonero, Fabio, additional, Maschio, Andrea, additional, Cusano, Roberto, additional, Cuccuru, Gianmauro, additional, Deidda, Francesca, additional, Poddie, Fausto, additional, Farina, Gabriele, additional, Dei, Mariano, additional, Virdis, Francesca, additional, Olla, Stefania, additional, Satta, Maria A., additional, Pani, Mario, additional, Delitala, Alessandro, additional, Cocco, Eleonora, additional, Frau, Jessica, additional, Coghe, Giancarlo, additional, Lorefice, Lorena, additional, Fenu, Giuseppe, additional, Ferrigno, Paola, additional, Ban, Maria, additional, Barizzone, Nadia, additional, Leone, Maurizio, additional, Guerini, Franca R., additional, Piga, Matteo, additional, Firinu, Davide, additional, Kockum, Ingrid, additional, Lima Bomfim, Izaura, additional, Olsson, Tomas, additional, Alfredsson, Lars, additional, Suarez, Ana, additional, Carreira, Patricia E., additional, Castillo-Palma, Maria J., additional, Marcus, Joseph H., additional, Congia, Mauro, additional, Angius, Andrea, additional, Melis, Maurizio, additional, Gonzalez, Antonio, additional, Alarcón Riquelme, Marta E., additional, da Silva, Berta M., additional, Marchini, Maurizio, additional, Danieli, Maria G., additional, Del Giacco, Stefano, additional, Mathieu, Alessandro, additional, Pani, Antonello, additional, Montgomery, Stephen B., additional, Rosati, Giulio, additional, Hillert, Jan, additional, Sawcer, Stephen, additional, D’Alfonso, Sandra, additional, Todd, John A., additional, Novembre, John, additional, Abecasis, Gonçalo R., additional, Whalen, Michael B., additional, Marrosu, Maria G., additional, Meloni, Alessandra, additional, Sanna, Serena, additional, Gorospe, Myriam, additional, Schlessinger, David, additional, Fiorillo, Edoardo, additional, Zoledziewska, Magdalena, additional, and Cucca, Francesco, additional

Published
2017
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9. Population history of the Sardinian people inferred from whole-genome sequencing

Author

Chiang, Charleston W K, primary, Marcus, Joseph H, additional, Sidore, Carlo, additional, Al-Asadi, Hussein, additional, Zoledziewska, Magdalena, additional, Pitzalis, Maristella, additional, Busonero, Fabio, additional, Maschio, Andrea, additional, Pistis, Giorgio, additional, Steri, Maristella, additional, Angius, Andrea, additional, Lohmueller, Kirk E, additional, Abecasis, Goncalo R, additional, Schlessinger, David, additional, Cucca, Francesco, additional, and Novembre, John, additional

Published
2016
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14. THE PRACTICE OF INOCULATION RECOMMENDED IN A SERMON BY THE REVEREND WILLIAM DODD, 1767

Author

MARCUS, JOSEPH H.

Abstract

In the year 1721, vaccination against smallpox was introduced into England by Lady Mary Wortley Montague, wife of the British ambassador to Turkey, whose 3 year old son was successfully inoculated in Constantinople, where the procedure had been in use for nearly a century. When it was first introduced into England, some of the clergy were among the formidable opposers and publicly preached against the practice as highly sinful. The Reverend Mr. Massey at St. Andrews, Holborn, on July 8, 1722, using as his text, Job ii, 7, preached against inoculation as derived from the devil, Satan being the first inoculator when he smote his victim with boils. However, it was after Jenner's immortal discovery, when it became obvious that smallpox was deprived of its accompanying terrors, that parliament ordered "that every infant shall be vaccinated within three months after its birth, unless the state of its health should render

Published
1930
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15. Visualizing the geography of genetic variants.

Author

Marcus, Joseph H. and Novembre, John

Subjects
*SINGLE nucleotide polymorphisms, *GENETIC polymorphisms, *GENETIC drift, *NATURAL selection, *GENE frequency
Abstract

Summary: One of the key characteristics of any genetic variant is its geographic distribution. The geographic distribution can shed light on where an allele first arose, what populations it has spread to, and in turn on how migration, genetic drift, and natural selection have acted. The geographic distribution of a genetic variant can also be of great utility for medical/clinical geneticists and collectively many genetic variants can reveal population structure. Here we develop an interactive visualization tool for rapidly displaying the geographic distribution of genetic variants. Through a REST API and dynamic front-end, the Geography of Genetic Variants (GGV) browser (http://popgen. uchicago.edu/ggv/) provides maps of allele frequencies in populations distributed across the globe. [ABSTRACT FROM AUTHOR]

Published
2017
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18. Height-reducing variants and selection for short stature in Sardinia

Author

Ioanna Tachmazidou, Ramaiah Nagaraja, Diego Ortega-Del Vecchyo, Nicholas J. Timpson, George Dedoussis, Maristella Steri, Fabio Busonero, Alessandro P Delitala, Ginevra Biino, Federico Murgia, Gonçalo R. Abecasis, Kirk E. Lohmueller, Charleston W. K. Chiang, John Novembre, Serena Sanna, Joseph Marcus, Robert H. Lyons, Antonella Mulas, Matteo Floris, Eleftheria Zeggini, Maria Pina Concas, Michele Marongiu, Andrea Maschio, Magdalena Zoledziewska, Simona Vaccargiu, Nicole Soranzo, Sergio Uzzau, Andrea Angius, Antonella Meloni, David Schlessinger, Carlo Sidore, Chris Jones, Francesco Cucca, Zoledziewska, Magdalena, Sidore, Carlo, Chiang, Charleston W. K., Sanna, Serena, Mulas, Antonella, Steri, Maristella, Busonero, Fabio, Marcus, Joseph H., Marongiu, Michele, Maschio, Andrea, Del Vecchyo, Diego Ortega, Floris, Matteo, Meloni, Antonella, Delitala, Alessandro, Concas, MARIA PINA, Murgia, Federico, Biino, Ginevra, Vaccargiu, Simona, Nagaraja, Ramaiah, Lohmueller, Kirk E., Timpson, Nicholas J., Soranzo, Nicole, Tachmazidou, Ioanna, Dedoussis, George, Zeggini, Eleftheria, Uzzau, Sergio, Jones, Chri, Lyons, Robert, Angius, Andrea, Abecasis, Goncalo R., Novembre, John, Schlessinger, David, Cucca, Francesco, Faculteit Medische Wetenschappen/UMCG, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Subjects
Male, Population genetics, Genome-wide association study, Body Height, Carrier Proteins, Founder Effect, Gene Frequency, Genome-Wide Association Study, Genotype, Haplotypes, High-Throughput Nucleotide Sequencing, KCNQ1 Potassium Channel, Laron Syndrome, Genetic Variation, Selection, Genetic, Genetics, 0302 clinical medicine, 80 and over, Haplotype, Longitudinal Studies, Non-U.S. Gov't, 10. No inequality, Aged, 80 and over, Islands, 0303 health sciences, Research Support, Non-U.S. Gov't, Middle Aged, Italy, Female, medicine.symptom, Adult, Biology, Research Support, Short stature, Article, N.I.H, 03 medical and health sciences, Young Adult, Research Support, N.I.H., Extramural, Genetic, Genetic drift, Journal Article, medicine, Humans, Allele, Selection, Allele frequency, 030304 developmental biology, Aged, Extramural, Minor allele frequency, Carrier Protein, 030217 neurology & neurosurgery, Founder effect
Abstract

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent in Sardinia (0.87% versus

Published
2015

19. Height-reducing variants and selection for short stature in Sardinia.

Author

Zoledziewska M, Sidore C, Chiang CWK, Sanna S, Mulas A, Steri M, Busonero F, Marcus JH, Marongiu M, Maschio A, Ortega Del Vecchyo D, Floris M, Meloni A, Delitala A, Concas MP, Murgia F, Biino G, Vaccargiu S, Nagaraja R, Lohmueller KE, Timpson NJ, Soranzo N, Tachmazidou I, Dedoussis G, Zeggini E, Uzzau S, Jones C, Lyons R, Angius A, Abecasis GR, Novembre J, Schlessinger D, and Cucca F

Subjects
Adult, Aged, Aged, 80 and over, Carrier Proteins genetics, Female, Founder Effect, Gene Frequency, Genome-Wide Association Study methods, Genotype, Haplotypes, High-Throughput Nucleotide Sequencing methods, Humans, Islands, Italy, KCNQ1 Potassium Channel genetics, Longitudinal Studies, Male, Middle Aged, Young Adult, Body Height genetics, Genetic Variation, Laron Syndrome genetics, Selection, Genetic
Abstract

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent in Sardinia (0.87% versus <0.01% elsewhere) and in the homozygous state causes Laron syndrome involving short stature. We find that this variant reduces height in heterozygotes by an average of 4.2 cm (-0.64 s.d.). The other variant, in the imprinted KCNQ1 gene (minor allele frequency (MAF) = 7.7% in Sardinia versus <1% elsewhere) reduces height by an average of 1.83 cm (-0.31 s.d.) when maternally inherited. Additionally, polygenic scores indicate that known height-decreasing alleles are at systematically higher frequencies in Sardinians than would be expected by genetic drift. The findings are consistent with selection for shorter stature in Sardinia and a suggestive human example of the proposed 'island effect' reducing the size of large mammals.

Published
2015
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