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	1.	Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬. [electronic resource] by Frustaci, Andrea Chimenti, Cristina Doheny, Dana Desnick, Robert J Producer: 20180604 In: International journal of cardiology vol. 248 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease. [electronic resource] by Dobrovolny, Robert Nazarenko, Irina Kim, Jungmin Doheny, Dana Desnick, Robert J Producer: 20110919 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Fabry Disease: prevalence of affected males and heterozygotes with pathogenic [electronic resource] by Doheny, Dana Srinivasan, Ram Pagant, Silvere Chen, Brenden Yasuda, Makiko Desnick, Robert J Producer: 20190916 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Acute Intermittent Porphyria in children: A case report and review of the literature. [electronic resource] by Balwani, Manisha Singh, Preeti Seth, Anju Debnath, Ekta Malik Naik, Hetanshi Doheny, Dana Chen, Brenden Yasuda, Makiko Desnick, Robert J Producer: 20171211 In: Molecular genetics and metabolism vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutation at the SCA17 locus is not a common cause of parkinsonism. [electronic resource] by Hernandez, Dena Hanson, Melissa Singleton, Amanda Gwinn-Hardy, Katrina Freeman, Jason Ravina, Bernard Doheny, Dana Gallardo, Marisol Weiser, Roberto Hardy, John Singleton, Andrew Producer: 20031006 In: Parkinsonism & related disorders vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. [electronic resource] by Chen, Brenden Solis-Villa, Constanza Hakenberg, Jörg Qiao, Wanqiong Srinivasan, Ramakrishnan R Yasuda, Makiko Balwani, Manisha Doheny, Dana Peter, Inga Chen, Rong Desnick, Robert J Producer: 20171107 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. [electronic resource] by Peter, Inga Mitchell, Adele A Ozelius, Laurie Erazo, Monica Hu, Jianzhong Doheny, Dana Abreu, Maria T Present, Daniel H Ullman, Thomas Benkov, Keith Korelitz, Burton I Mayer, Lloyd Desnick, Robert J Producer: 20110817 In: BMC medical genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects. [electronic resource] by Kadian-Dodov, Daniella L van der Zee, Sarina A Scott, Stuart A Peter, Inga Martis, Suparna Doheny, Dana O Rothlauf, Elizabeth B Lubitz, Steven A Desnick, Robert J Halperin, Jonathan L Producer: 20140602 In: Vascular medicine (London, England) vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. [electronic resource] by Balwani, Manisha Doheny, Dana Bishop, David F Nazarenko, Irina Yasuda, Makiko Dailey, Harry A Anderson, Karl E Bissell, D Montgomery Bloomer, Joseph Bonkovsky, Herbert L Phillips, John D Liu, Lawrence Desnick, Robert J Producer: 20131224 In: Molecular medicine (Cambridge, Mass.) vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. [electronic resource] by Raymond, Deborah Saunders-Pullman, Rachel de Carvalho Aguiar, Patricia Schule, Birgitt Kock, Norman Friedman, Jennifer Harris, Juliette Ford, Blair Frucht, Steven Heiman, Gary A Jennings, Danna Doheny, Dana Brin, Mitchell F de Leon Brin, Deborah Multhaupt-Buell, Trisha Lang, Anthony E Kurlan, Roger Klein, Christine Ozelius, Laurie Bressman, Susan Producer: 20080722 In: Movement disorders : official journal of the Movement Disorder Society vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. [electronic resource] by Klein, Christine Liu, Liu Doheny, Dana Kock, Norman Müller, Birgitt de Carvalho Aguiar, Patricia Leung, Joanne de Leon, Deborah Bressman, Susan B Silverman, Jeremy Smith, Christopher Danisi, Fabio Morrison, Chris Walker, Ruth H Velickovic, Miodrag Schwinger, Eberhard Kramer, Patricia L Breakefield, Xandra O Brin, Mitchell F Ozelius, Laurie J Producer: 20021203 In: Annals of neurology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. [electronic resource] by Kenny, Eimear E Pe'er, Itsik Karban, Amir Ozelius, Laurie Mitchell, Adele A Ng, Sok Meng Erazo, Monica Ostrer, Harry Abraham, Clara Abreu, Maria T Atzmon, Gil Barzilai, Nir Brant, Steven R Bressman, Susan Burns, Edward R Chowers, Yehuda Clark, Lorraine N Darvasi, Ariel Doheny, Dana Duerr, Richard H Eliakim, Rami Giladi, Nir Gregersen, Peter K Hakonarson, Hakon Jones, Michelle R Marder, Karen McGovern, Dermot P B Mulle, Jennifer Orr-Urtreger, Avi Proctor, Deborah D Pulver, Ann Rotter, Jerome I Silverberg, Mark S Ullman, Thomas Warren, Stephen T Waterman, Matti Zhang, Wei Bergman, Aviv Mayer, Lloyd Katz, Seymour Desnick, Robert J Cho, Judy H Peter, Inga Producer: 20120904 In: PLoS genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)