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Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
Dhanraj, Santhosh, Matveev, Anna, Li, Hongbing, Lauhasurayotin, Supanun, Jardine, Lawrence, Cada, Michaela, Zlateska, Bozana, Tailor, Chetankumar S., Zhou, Joseph, Mendoza-Londono, Roberto, Vincent, Ajoy, Durie, Peter R., Scherer, Stephen W., Rommens, Johanna M., Heon, Elise, Dror, Yigal
Published in Blood (16.03.2017)
Published in Blood (16.03.2017)
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Journal Article
The clinical impact of copy number variants in inherited bone marrow failure syndromes
Waespe, Nicolas, Dhanraj, Santhosh, Wahala, Manju, Tsangaris, Elena, Enbar, Tom, Zlateska, Bozana, Li, Hongbing, Klaassen, Robert J., Fernandez, Conrad V., Cuvelier, Geoff D. E., Wu, John K., Pastore, Yves D., Silva, Mariana, Lipton, Jeffrey H., Brossard, Joseé, Michon, Bruno, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark J., Breakey, Vicky R., Jardine, Lawrence, Goodyear, Lisa, Kofler, Liat, Cada, Michaela, Sung, Lillian, Shago, Mary, Scherer, Stephen W., Dror, Yigal
Published in Npj genomic medicine (10.05.2017)
Published in Npj genomic medicine (10.05.2017)
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Journal Article
Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish
Cordeiro, Anna, Deveau, Adam P, Dhanraj, Santhosh, Dror, Yigal, Berman, Jason
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Journal Article
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
Dhanraj, Santhosh, Gunja, Sethu Madhava Rao, Deveau, Adam P, Nissbeck, Mikael, Boonyawat, Boonchai, Coombs, Andrew J, Renieri, Alessandra, Mucciolo, Mafalda, Marozza, Annabella, Buoni, Sabrina, Turner, Lesley, Li, Hongbing, Jarrar, Ameer, Sabanayagam, Mathura, Kirby, Melanie, Shago, Mary, Pinto, Dalila, Berman, Jason N, Scherer, Stephen W, Virtanen, Anders, Dror, Yigal
Published in Journal of medical genetics (01.11.2015)
Published in Journal of medical genetics (01.11.2015)
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Journal Article
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes
Ghemlas, Ibrahim, Li, Hongbing, Zlateska, Bozana, Klaassen, Robert, Fernandez, Conrad V, Yanofsky, Rochelle A, Wu, John, Pastore, Yves, Silva, Mariana, Lipton, Jeff H, Brossard, Josee, Michon, Bruno, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark, Breakey, Vicky R, Jardine, Lawrence, Goodyear, Lisa, Sung, Lillian, Dhanraj, Santhosh, Reble, Emma, Wagner, Amanda, Beyene, Joseph, Ray, Peter, Meyn, Stephen, Cada, Michaela, Dror, Yigal
Published in Journal of medical genetics (01.09.2015)
Published in Journal of medical genetics (01.09.2015)
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Journal Article
Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
Moshiri, Houtan, Cabrera Riofrío, David A., Lim, Yeon Jung, Lauhasurayotin, Supanun, Manisterski, Michal, Elhasid, Ronit, Bonilla, Francisco A., Dhanraj, Santhosh, Armstrong, Richard N., Li, Hongbing, Scherer, Stephen W., Hernández-Hernández, Angel, Dror, Yigal
Published in Leukemia (01.08.2022)
Published in Leukemia (01.08.2022)
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Journal Article
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
Shalata, Adel, Lauhasurayotin, Supanun, Leibovitz, Zvi, Li, Hongbing, Hebert, Diane, Dhanraj, Santhosh, Hadid, Yarin, Mahroum, Mohammed, Bajar, Jacob, Egenburg, Sandro, Arad, Ayala, Shohat, Mordechai, Haddad, Sami, Bakry, Hassan, Moshiri, Houtan, Scherer, Stephen W, Tzur, Shay, Dror, Yigal
Published in Journal of medical genetics (01.05.2019)
Published in Journal of medical genetics (01.05.2019)
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Journal Article
Cellular and Molecular Architecture of Hematopoietic Stem Cells and Progenitors in Genetic Models of Bone Marrow Failure
Heidemann, Stephanie C., Bursic, Brian, Zandi, Sasan, Li, Hongbing, Klaassen, Robert J, Abish, Sharon, Rayar, Meera, Breakey, Vicky R., Moshiri, Houtan, Dhanraj, Santhosh, de Borja, Richard, Shlien, Adam, Dick, John E., Dror, Yigal, Abelson, Sagi
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Journal Article
The Zebrafish Provides Mechanistic Insights into the Role of Poly(A)-Specific Ribonuclease (PARN) in Hematopoietic Stem Cell (HSC) Homeostasis and Bone Marrow Failure
Deveau, Adam P, Coombs, Andrew J, Dhanraj, Santhosh, Wagner, Gretchen, Dror, Yigal, Berman, Jason N.
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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Journal Article
Re-Analysis of Next Generation Sequencing Gene Panel Data By Normalized Coverage Values Reveals Previously Undetected Copy Number Variations in Inherited Bone Marrow Failure Syndromes
Lauhasurayotin, Supanun, Shabanova, Iren, Li, Hongbing, Dhanraj, Santhosh, Zlateska, Bozana, Klaassen, Robert J, Fernandez, Conrad, Cuvelier, Geoff DE, Wu, John K., Pastore, Yves D., Silva, Mariana, Lipton, Jeffrey H., Brossard, Josee, Michon, Bruno, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark J., Breakey, Vicky R., Jardine, Lawrence, Goodyear, Lisa, Sung, Lillian, Shago, Mary, Cada, Michaela, Stephen, Scherer W, Dror, Yigal
Published in Blood (08.12.2017)
Published in Blood (08.12.2017)
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Journal Article
Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure
Heidemann, Stephanie, Bursic, Brian, Zandi, Sasan, Li, Hongbing, Abelson, Sagi, Klaassen, Robert J., Abish, Sharon, Rayar, Meera, Breakey, Vicky R., Moshiri, Houtan, Dhanraj, Santhosh, de Borja, Richard, Shlien, Adam, Dick, John E., Dror, Yigal
Published in JCI insight (27.02.2020)
Published in JCI insight (27.02.2020)
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Journal Article
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome
Dhanraj, Santhosh, Manji, Arif, Pinto, Dalila, Scherer, Stephen W., Favre, Helen, Loh, Mignon L., Chetty, Runjan, Wei, Alice C., Dror, Yigal
Published in Pediatric blood & cancer (01.05.2013)
Published in Pediatric blood & cancer (01.05.2013)
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Journal Article
Copy Number Variants Underlying Inherited Bone Marrow Failure Syndromes
Waespe, Nicolas, Dhanraj, Santhosh, Wahala, Manju, Enbar, Tom, Zlateska, Bozana, Li, Hongbing, Klaassen, Robert J., Fernandez, Conrad, Yanofsky, Rochelle, Wu, John K., Pastore, Yves D., Silva, Mariana, Lipton, Jeffrey H., Brossard, Josee, Michon, Bruno, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark J., Breakey, Vicky R., Jardine, Lawrence, Goodyear, Lisa, Kofler, Liat, Ghemlas, Ibrahim A., Cada, Michaela, Sung, Lillian, Shago, Mary, Scherer, Stephen W., Dror, Yigal
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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Journal Article
Bone Marrow Failure and Developmental Delay Caused By Mutations in Poly(A)-Specific Ribonuclease
Dhanraj, Santhosh, Rao Gunja, Sethu Madhava, Deveau, Adam P, Nissbeck, Mikael, Boonyawat, Boonchai, Coombs, Andrew J, Renieri, Alessandra, Mucciolo, Mafalda, Marozza, Annabella, Buoni, Sabrina, Turner, Lesley, Li, Hongbing, Jarrar, Ameer, Sabanayagam, Mathura, Kirby, Melanie, Shago, Mary, Pinto, Dalila, Berman, Jason N., Scherer, Stephen W., Virtanen, Anders, Dror, Yigal
Published in Blood (03.12.2015)
Published in Blood (03.12.2015)
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Journal Article
Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia
Boonyawat, Boonchai, Dhanraj, Santhosh, al Abbas, Fahad, Zlateska, Bozana, Grunenbaum, Eyal, Roifman, Chaim M., Steele, Leslie, Meyn, Stephen, Blanchette, Victor, Scherer, Stephen W., Swierczek, Sabina, Prchal, Josef, Zhu, Qili, Torgerson, Troy R., Ochs, Hans D., Dror, Yigal
Published in Journal of clinical immunology (01.10.2013)
Published in Journal of clinical immunology (01.10.2013)
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Journal Article
Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes
Ghemlas, Ibrahim, Li, Hongbing, Zlateska, Bozana, Klaassen, Robert J., Fernandez, Conrad V, Yanofsky, Rochelle, Wu, John K., Pastore, Yves, Silva, Mariana, Lipton, Jeffrey H., Brossard, Josse, Bruno, Michon, Abish, Sharon, Steele, MacGregor, Sinha, Roona, Belletrutti, Mark J., Breakey, Vicky R, Jardine, Lawrence, Goodyear, Lisa, Sung, Lillian, Dhanraj, Santhosh, Reble, Emma, Wagner, Amanda, Beyene, Joseph, Ray, Peter, Meyn, Stephen, Cada, Michaela, Dror, Yigal
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
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Journal Article
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels
Lauhasurayotin, Supanun, Cuvelier, Geoff D., Klaassen, Robert J., Fernandez, Conrad V., Pastore, Yves D., Abish, Sharon, Rayar, Meera, Steele, MacGregor, Jardine, Lawrence, Breakey, Vicky R., Brossard, Josee, Sinha, Roona, Silva, Mariana, Goodyear, Lisa, Lipton, Jeffrey H., Michon, Bruno, Corriveau-Bourque, Catherine, Sung, Lillian, Shabanova, Iren, Li, Hongbing, Zlateska, Bozana, Dhanraj, Santhosh, Cada, Michaela, Scherer, Stephen W., Dror, Yigal
Published in Npj genomic medicine (09.12.2019)
Published in Npj genomic medicine (09.12.2019)
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Journal Article
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
Dhanraj, Santhosh, Matveev, Anna, Li, Hongbing, Lauhasurayotin, Supanun, Jardine, Lawrence, Cada, Michaela, Zlateska, Bozana, Tailor, Chetankumar S, Zhou, Joseph, Mendoza-Londono, Roberto, Vincent, Ajoy, Durie, Peter R, Scherer, Stephen W, Rommens, Johanna M, Heon, Elise, Dror, Yigal
Published in Blood (16.03.2017)
Published in Blood (16.03.2017)
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