Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
Bottomley, Sylvia S, Campagna, Dean R, Matsuoka, Makoto, Guernsey, Duane L, Rideout, Andrea, Dyack, Sarah, Samuels, Mark E, Kellogg, Mark D, Schmidt, Paul J, Nightingale, Mathew, Jiang, Haiyan, Ludman, Mark, Saint-Amant, Louis, Lachance, Mathieu, Ferguson, Meghan, Fernandez, Conrad V, Evans, Susan C, Fleming, Mark D, Orr, Andrew
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
Guernsey, Duane L., Jiang, Haiyan, Hussin, Julie, Arnold, Marc, Bouyakdan, Khalil, Perry, Scott, Babineau-Sturk, Tina, Beis, Jill, Dumas, Nadine, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Patry, Lysanne, Rideout, Andrea L., Thomas, Aidan, Orr, Andrew, Hoffmann, Ingrid, Michaud, Jacques L., Awadalla, Philip, Meek, David C., Ludman, Mark, Samuels, Mark E.
Published in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
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Journal Article
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
Guernsey, Duane L, Matsuoka, Makoto, Jiang, Haiyan, Evans, Susan, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Ferguson, Meghan, LeBlanc, Marissa, Paquette, Jean, Patry, Lysanne, Rideout, Andrea L, Thomas, Aidan, Orr, Andrew, McMaster, Chris R, Michaud, Jacques L, Deal, Cheri, Langlois, Sylvie, Superneau, Duane W, Parkash, Sandhya, Ludman, Mark, Skidmore, David L, Samuels, Mark E
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients
Bernstein-Molho, Rinat, Barnes-Kedar, Inbal, Ludman, Mark D., Reznik, Gili, Feldman, Hagit Baris, Samra, Nadra Nasser, Eilat, Avital, Peretz, Tamar, Peretz, Lilach Peled, Shapira, Tamar, Magal, Nurit, Kalis, Marina Lifshitc, Yerushalmi, Rinat, Vinkler, Chana, Liberman, Sari, Basel-Salmon, Lina, Shohat, Mordechai, Levy-Lahad, Ephrat, Friedman, Eitan, Bazak, Lily, Goldberg, Yael
Published in Breast cancer research and treatment (01.11.2019)
Published in Breast cancer research and treatment (01.11.2019)
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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease
Guernsey, Duane L, Jiang, Haiyan, Bedard, Karen, Evans, Susan C, Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Rideout, Andrea L, Orr, Andrew, Ludman, Mark, Skidmore, David L, Benstead, Timothy, Samuels, Mark E
Published in PLoS genetics (01.08.2010)
Published in PLoS genetics (01.08.2010)
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RFT1 deficiency in three novel CDG patients
Vleugels, Wendy, Haeuptle, Micha A, Ng, Bobby G, Michalski, Jean-Claude, Battini, Roberta, Dionisi-Vici, Carlo, Ludman, Mark D, Jaeken, Jaak, Foulquier, François, Freeze, Hudson H, Matthijs, Gert, Hennet, Thierry
Published in Human mutation (01.10.2009)
Published in Human mutation (01.10.2009)
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Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome
Baris, Hagit N, Kedar, Inbal, Halpern, Gabrielle J, Shohat, Tamy, Magal, Nurit, Ludman, Mark D, Shohat, Mordechai
Published in The Israel Medical Association journal (01.12.2007)
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Published in The Israel Medical Association journal (01.12.2007)
Journal Article
JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I
Berman, Jason N., Greer, Wenda L., Archambeault, Sophie, Loh, Mignon L., Riddell, Christie, Morash, Barbara, Dumas, Nadine, Fernandez, Conrad V., Ludman, Mark D.
Published in Pediatric Blood & Cancer (01.11.2008)
Published in Pediatric Blood & Cancer (01.11.2008)
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VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study
Pettman, Rachel K, Crowley, Amy, Riddell, Christie, Ludman, Mark D
Published in Molecular diagnosis & therapy (01.01.2006)
Published in Molecular diagnosis & therapy (01.01.2006)
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Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
Bernstein-Molho, Rinat, Friedman, Eitan, Kedar, Inbal, Laitman, Yael, Allweis, Tanir M., Gal-Yam, Einav Nili, Feldman, Hagit Baris, Grinshpun, Albert, Halpern, Naama, Hartmajer, Shulamit, Kadouri, Luna, Katz, Lior H., Kaufman, Bella, Laish, Ido, Levanon, Keren, Philipsborn, Shira Litz, Ludman, Mark, Moran, Gal, Peretz, Tamar, Reinstein, Eyal, Levi, Gili Reznick, Safra, Tamar, Shkedi, Shiri, Vinkler, Chana, Levy, Zohar, Goldberg, Yael
Published in Breast cancer research and treatment (01.06.2020)
Published in Breast cancer research and treatment (01.06.2020)
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Germline mutations in MAP3K6 are associated with familial gastric cancer
Gaston, Daniel, Hansford, Samantha, Oliveira, Carla, Nightingale, Mathew, Pinheiro, Hugo, Macgillivray, Christine, Kaurah, Pardeep, Rideout, Andrea L, Steele, Patricia, Soares, Gabriela, Huang, Weei-Yuarn, Whitehouse, Scott, Blowers, Sarah, LeBlanc, Marissa A, Jiang, Haiyan, Greer, Wenda, Samuels, Mark E, Orr, Andrew, Fernandez, Conrad V, Majewski, Jacek, Ludman, Mark, Dyack, Sarah, Penney, Lynette S, McMaster, Christopher R, Huntsman, David, Bedard, Karen
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2
Guernsey, Duane L., Jiang, Haiyan, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Nightingale, Mathew, Rideout, Andrea L., Provost, Sylvie, Bedard, Karen, Orr, Andrew, Dubé, Marie-Pierre, Ludman, Mark, Samuels, Mark E.
Published in American journal of human genetics (10.07.2009)
Published in American journal of human genetics (10.07.2009)
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Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey
Bombard, Yvonne, Veenstra, Gerry, Friedman, Jan M, Creighton, Susan, Currie, Lauren, Paulsen, Jane S, Bottorff, Joan L, Hayden, Michael R
Published in BMJ (09.06.2009)
Published in BMJ (09.06.2009)
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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome
Gallione, Carol, Aylsworth, Arthur S., Beis, Jill, Berk, Terri, Bernhardt, Barbara, Clark, Robin D., Clericuzio, Carol, Danesino, Cesare, Drautz, Joanne, Fahl, Jeffrey, Fan, Zheng, Faughnan, Marie E., Ganguly, Arupa, Garvie, John, Henderson, Katharine, Kini, Usha, Leedom, Tracey, Ludman, Mark, Lux, Andreas, Maisenbacher, Melissa, Mazzucco, Sara, Olivieri, Carla, Ploos van Amstel, Johannes K., Prigoda-Lee, Nadia, Pyeritz, Reed E., Reardon, Willie, Vandezande, Kirk, Waldman, J. Deane, White Jr, Robert I., Williams, Charles A., Marchuk, Douglas A.
Published in American journal of medical genetics. Part A (01.02.2010)
Published in American journal of medical genetics. Part A (01.02.2010)
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