Gain-of-function mutation of microRNA-140 in human skeletal dysplasia von Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya

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Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory von Meng, Linyan, Attali, Ruben, Talmy, Tomer, Regev, Yakir, Mizrahi, Niv, Smirin-Yosef, Pola, Vossaert, Liesbeth, Taborda, Christian, Santana, Michael, Machol, Ido, Xiao, Rui, Dai, Hongzheng, Eng, Christine, Xia, Fan, Tzur, Shay

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Big data analysis of human mitochondrial DNA substitution models: a regression approach von Levinstein Hallak, Keren, Tzur, Shay, Rosset, Saharon

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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C von Reinstein, Eyal, Gutierrez-Fernandez, Ana, Tzur, Shay, Bormans, Concetta, Marcu, Shai, Tayeb-Fligelman, Einav, Vinkler, Chana, Raas-Rothschild, Annick, Irge, Dana, Landau, Meytal, Shohat, Mordechai, Puente, Xose S, Behar, Doron M, Lopez-Otın, Carlos

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Possible incipient sympatric ecological speciation in blind mole rats (Spalax) von Hadid, Yarin, Tzur, Shay, Pavlíček, Tomáš, Šumbera, Radim, Šklíba, Jan, Lövy, Matěj, Fragman-Sapir, Ori, Beiles, Avigdor, Arieli, Ran, Raz, Shmuel, Nevo, Eviatar

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Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency von Behar, Doron M., Basel-Vanagaite, Lina, Glaser, Fabian, Kaplan, Marielle, Tzur, Shay, Magal, Nurit, Eidlitz-Markus, Tal, Haimi-Cohen, Yishay, Sarig, Galit, Bormans, Concetta, Shohat, Mordechai, Zeharia, Avraham

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Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers von Quintana-Murci, Lluís, Quach, Hélène, Harmant, Christine, Luca, Francesca, Massonnet, Blandine, Patin, Etienne, Sica, Lucas, Mouguiama-Daouda, Patrick, Comas, David, Tzur, Shay, Balanovsky, Oleg, Kidd, Kenneth K, Kidd, Judith R, van der Veen, Lolke, Hombert, Jean-Marie, Gessain, Antoine, Verdu, Paul, Froment, Alain, Bahuchet, Serge, Heyer, Evelyne, Dausset, Jean, Salas, Antonio, Behar, Doron M

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Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora von Behar, Doron M, Metspalu, Ene, Kivisild, Toomas, Rosset, Saharon, Tzur, Shay, Hadid, Yarin, Yudkovsky, Guennady, Rosengarten, Dror, Pereira, Luisa, Amorim, Antonio, Kutuev, Ildus, Gurwitz, David, Bonne-Tamir, Batsheva, Villems, Richard, Skorecki, Karl

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Population genetics of chronic kidney disease: the evolving story of APOL1 von Wasser, Walter G, Tzur, Shay, Wolday, Dawit, Adu, Dwomoa, Baumstein, Donald, Rosset, Saharon, Skorecki, Karl

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The Genographic Project public participation mitochondrial DNA database von Behar, Doron M, Rosset, Saharon, Blue-Smith, Jason, Balanovsky, Oleg, Tzur, Shay, Comas, David, Mitchell, R John, Quintana-Murci, Lluis, Tyler-Smith, Chris, Wells, R Spencer

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The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event von Behar, Doron M., Metspalu, Ene, Kivisild, Toomas, Achilli, Alessandro, Hadid, Yarin, Tzur, Shay, Pereira, Luisa, Amorim, Antonio, Quintana-Murci, Lluís, Majamaa, Kari, Herrnstadt, Corinna, Howell, Neil, Balanovsky, Oleg, Kutuev, Ildus, Pshenichnov, Andrey, Gurwitz, David, Bonne-Tamir, Batsheva, Torroni, Antonio, Villems, Richard, Skorecki, Karl

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Adaptation of pelage color and pigment variations in Israeli subterranean blind mole rats, Spalax ehrenbergi [corrected] von Singaravelan, Natarajan, Raz, Shmuel, Tzur, Shay, Belifante, Shirli, Pavlicek, Tomas, Beiles, Avigdor, Ito, Shosuke, Wakamatsu, Kazumasa, Nevo, Eviatar

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Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency von de Vries, Liat, Behar, Doron M, Smirin-Yosef, Pola, Lagovsky, Irina, Tzur, Shay, Basel-Vanagaite, Lina

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Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African a... von Tzur, Shay, Wasser, Walter G, Rosset, Saharon, Skorecki, Karl

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Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene von Tzur, Shay, Rosset, Saharon, Shemer, Revital, Yudkovsky, Guennady, Selig, Sara, Tarekegn, Ayele, Bekele, Endashaw, Bradman, Neil, Wasser, Walter G, Behar, Doron M, Skorecki, Karl

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APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kid... von TZUR, Shay, ROSSET, Saharon, SKORECKI, Karl, WASSER, Walter G

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Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa–Associated Disease von Demir, Korcan, Yıldız, Melek, Bahat, Hilla, Goldman, Michael, Hassan, Nisreen, Tzur, Shay, Ofir, Ayala, Magen, Daniella

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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing von Reinstein, Eyal, Tzur, Shay, Cohen, Rony, Bormans, Concetta, Behar, Doron M

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The Genomic History of the Bronze Age Southern Levant von Agranat-Tamir, Lily, Waldman, Shamam, Martin, Mario A.S., Gokhman, David, Mishol, Nadav, Eshel, Tzilla, Cheronet, Olivia, Rohland, Nadin, Mallick, Swapan, Adamski, Nicole, Lawson, Ann Marie, Mah, Matthew, Michel, Megan, Oppenheimer, Jonas, Stewardson, Kristin, Candilio, Francesca, Keating, Denise, Gamarra, Beatriz, Tzur, Shay, Novak, Mario, Kalisher, Rachel, Bechar, Shlomit, Eshed, Vered, Kennett, Douglas J., Faerman, Marina, Yahalom-Mack, Naama, Monge, Janet M., Govrin, Yehuda, Erel, Yigal, Yakir, Benjamin, Pinhasi, Ron, Carmi, Shai, Finkelstein, Israel, Carmel, Liran, Reich, David

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A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis von Smirin-Yosef, Pola, Zuckerman-Levin, Nehama, Tzur, Shay, Granot, Yaron, Cohen, Lior, Sachsenweger, Juliane, Borck, Guntram, Lagovsky, Irina, Salmon-Divon, Mali, Wiesmüller, Lisa, Basel-Vanagaite, Lina

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