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Annals of Internal Medicine, ISSN 0003-4819, 2019, Volume 170, Issue 1, pp. 11 - 21
Background: Exome sequencing is increasingly being used for clinical diagnostics, with an impetus to expand reporting of incidental findings across a wide... 
INCIDENTAL FINDINGS | GENETIC-VARIATION | MEDICINE, GENERAL & INTERNAL | WHOLE-GENOME | PROTEIN | DISEASE | AMERICAN-COLLEGE | SECONDARY FINDINGS | HIGH PREVALENCE | CLINICAL EXOME | GENOMIC MEDICINE
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2019, Volume 380, Issue 2, pp. 142 - 151
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejana and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Boia, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasà, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and zdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, C. cile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, D. bora M and Oliveira, Eduardo A and Simões-e-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature Genetics, ISSN 1061-4036, 2019, Volume 51, Issue 1, pp. 117 - 127
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 789 - 802
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome... 
CAKUT | SETBP1 | EYA1 | SIX5 | WNT5A | HSPA4L | HNF1B | GATA3 | PAX2 | Genetics(clinical) | Genetics | GENETIC-VARIATION | ANOMALIES | ABNORMALITIES | URINARY-TRACT | CANDIDATE GENES | DISEASE | GENETICS & HEREDITY | RISK | RENAL HYPODYSPLASIA | EPIDEMIOLOGY | CHILDREN
Journal Article
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasa, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora M and Oliveira, Eduardo A and Simoes-E-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature genetics, ISSN 1061-4036, 02/2019, Volume 51, Issue 4, pp. 764 - 764
In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal... 
Medical colleges | Genetic disorders | Urinary tract | Congenital defects | Copy number | Urogenital system | Congenital anomalies
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 789 - 802
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejana and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Boia, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasa, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and zdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, C. cile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, D. bora M and Oliveira, Eduardo A and Simoes-e-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
2019, Volume 51, Issue 4
In the version of this article initially published, affiliation 38 incorrectly read “ICNU-Nephrology and Urology Department, Barcelona, Spain”; “Renal... 
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