Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women: a comparison of guidelines

por Kotnik, Urska, Peterlin, Borut, Lovrecic, Luca
Publicado 2021

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort

por Kotnik, Urška, Maver, Aleš, Peterlin, Borut, Lovrecic, Luca
Publicado 2023

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge

por Rogac, Mihael, Kovanda, Anja, Lovrečić, Luca, Peterlin, Borut
Publicado 2023

Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation

por Vrecar, Irena, Peterlin, Borut, Teran, Natasa, Lovrecic, Luca
Publicado 2015

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss

por Vrečar, Irena, Rudolf, Gorazd, Peterlin, Borut, Lovrecic, Luca
Publicado 2015

Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21

por Volk, Marija, Maver, Aleš, Lovrečić, Luca, Juvan, Peter, Peterlin, Borut
Publicado 2013

Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21

por Volk, Marija, Maver, Aleš, Hodžić, Alenka, Lovrečić, Luca, Peterlin, Borut
Publicado 2017

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

por Rudolf, Gorazd, Lovrečić, Luca, Tul, Nataša, Teran, Nataša, Peterlin, Borut
Publicado 2019

Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage

por Lovrečić, Luca, Pereza, Nina, Jaklič, Helena, Ostojić, Saša, Peterlin, Borut
Publicado 2019

No Specific Gene Expression Signature in Human Granulosa and Cumulus Cells for Prediction of Oocyte Fertilisation and Embryo Implantation

por Burnik Papler, Tanja, Vrtacnik Bokal, Eda, Lovrecic, Luca, Kopitar, Andreja Natasa, Maver, Ales
Publicado 2015

Transcriptomic Analysis and Meta-Analysis of Human Granulosa and Cumulus Cells

por Burnik Papler, Tanja, Vrtacnik Bokal, Eda, Maver, Ales, Kopitar, Andreja Natasa, Lovrečić, Luca
Publicado 2015

Clinical utility of array comparative genomic hybridisation in prenatal setting

por Lovrecic, Luca, Remec, Ziga Iztok, Volk, Marija, Rudolf, Gorazd, Writzl, Karin, Peterlin, Borut
Publicado 2016

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

por Stavber, Lana, Bertok, Sara, Kovač, Jernej, Volk, Marija, Lovrečić, Luca, Battelino, Tadej, Hovnik, Tinka
Publicado 2017

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22

por Slavec, Lara, Geršak, Ksenija, Eberlinc, Andreja, Hovnik, Tinka, Lovrečić, Luca, Mlinarič-Raščan, Irena, Karas Kuželički, Nataša
Publicado 2023

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

por Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut
Publicado 2018

Recommendations for reporting results of diagnostic genomic testing

por Deans, Zandra C., Ahn, Joo Wook, Carreira, Isabel M., Dequeker, Elisabeth, Henderson, Mick, Lovrecic, Luca, Õunap, Katrin, Tabiner, Melody, Treacy, Rebecca, van Asperen, Christi J.
Publicado 2022

Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis

por Lavtar, Polona, Rudolf, Gorazd, Maver, Aleš, Hodžić, Alenka, Starčević Čizmarević, Nada, Živković, Maja, Šega Jazbec, Saša, Klemenc Ketiš, Zalika, Kapović, Miljenko, Dinčić, Evica, Raičević, Ranko, Sepčić, Juraj, Lovrečić, Luca, Stanković, Aleksandra, Ristić, Smiljana, Peterlin, Borut
Publicado 2018

The Role of TPA I/D and PAI-1 4G/5G Polymorphisms in Multiple Sclerosis

por Živković, Maja, Starčević Čizmarević, Nada, Lovrečić, Luca, Klupka-Sarić, Inge, Stanković, Aleksandra, Gašparović, Iva, Lavtar, Polona, Dinčić, Evica, Stojković, Ljiljana, Rudolf, Gorazd, Šega Jazbec, Saša, Perković, Olivio, Sinanović, Osman, Sepčić, Juraj, Kapović, Miljenko, Peterlin, Borut, Ristić, Smiljana
Publicado 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014