A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Authors: Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay., Thomas

Source: American journal of human genetics. 109(9):1605-1619

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100169152596.0x000001&indx=1&recIds=ETOCvdc_100169152596.0x000001

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Authors: Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Alkuraya, Fowzan S., Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J., Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola

Source: American journal of medical genetics.Part A. 185(6):1649-1665

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121053526.0x000001&indx=1&recIds=ETOCvdc_100121053526.0x000001

P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*

Authors: Schleit, Jennifer, Wright, Meredith, Olsen, Lauren, Blincow, Eric, Caylor, Sara, Chambers, Christina, Angel, Guillermo del, Ellsworth, Katarzyna (Kasia), Feigenbaum, Annette, Frise, Erwin, Guidugli, Lucia, Hall, Kevin, Hansen, Christian, Hobbs, Charlotte, Kiel, Mark, Krilow, Chad, Kunard, Chris, Kwon, YongHyun, Madhavrao, Rao, Mehtalia, Shyamal, Mowrey, William, Le, Jennie, Leipzig, Jeremy, Liang, Yupu, Mardach, Rebecca, Oh, Danny, Owen, Mallory, Protopsaltis, Liana, Kobayashi, Erica Sanford, Scharer, Gunter, Schultz, Brandon, Shelnutt, Seth, Smith, Laurie, Tran, Duke, Van Der Kraan, Lucita, Wigby, Kristen, Willis, Mary, Wolen, Aaron, Yandell, Mark, Defay, Thomas, Kingsmore, Stephen

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase

Authors: Smith, Laurie, Rhead, William, Charrow, Joel, Shankar, Suma P., Bavdekar, Ashish, Longo, Nicola, Mardach, Rebecca, Harmatz, Paul, Hangartner, Thomas, Lee, Hak-Myung, Crombez, Eric, Pastores, Gregory M.

Source: In Molecular Genetics and Metabolism February 2016 117(2):164-171

Response to Grosse et al.

Authors: Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay, Thomas

Source: American journal of human genetics. 110(6):1017-1017

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191548796.0x000001&indx=1&recIds=ETOCvdc_100191548796.0x000001

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Authors: Mullegama, Sureni V, Klein, Steven D, Nguyen, Dzung C, Kim, Arang, Signer, Rebecca, Fox, Michelle, Dorrani, Naghmeh, Hendershot, Andrea, Mardach, Rebecca, Suddath, Robert, Dipple, Katrina, Vilain, Eric, Wong, Derek A, Deignan, Joshua L, D. Cederbaum, Stephen, Grody, Wayne W, Martinez-Agosto, Julian A

Source: In Genetics in Medicine December 2017 19(12):1380-1381

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Authors: Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H.

Source: Nature Communications; 7/26/2022, Vol. 13 Issue 1, p1-14, 14p

Subject Terms: GENETIC disorders, DNA copy number variations, WHOLE genome sequencing, GENETIC disorder diagnosis, MOLECULAR diagnosis

Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy

Authors: Mardach, Rebecca, Verity, M. Anthony, Cederbaum, Stephen D.

Source: In Molecular Genetics and Metabolism 2005 85(4):286-290

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.

Authors: Nguyen, Minh G., Tronick, Lauren, Modirian, Faraz, Mardach, Rebecca, Besterman, Aaron D.

Source: Cold Spring Harbor Molecular Case Studies; Feb2022, Vol. 8 Issue 2, p1-11, 11p

Subject Terms: NEURAL development, NEUROBEHAVIORAL disorders, VITAMIN B12, AUTISM spectrum disorders, MEDICAL care

eP286: Genome-to-treatment: A system to guide the acute management of genetic disorders in children

Authors: Willis, Mary, Owen, Mallory, Lefebvre, Sebastien, Hanson, Christian, Dimmock, David, Scharer, Gunter, Mardach, Rebecca, Feigenbaum, Annette, Smith, Laurie, Kingsmore, Stephen

Source: In Genetics in Medicine March 2022 24(3) Supplement:S181-S181

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.

Authors: James, Kiely N., Megan Lau, Shayan, Katayoon, Lenberg, Jerica, Mardach, Rebecca, Ignacio Jr., Romeo, Halbach, Jonathan, Choi, Lillian, Kumar, Soma, Ellsworth, Katarzyna A.

Source: Cold Spring Harbor Molecular Case Studies; Jun2021, Vol. 7 Issue 3, p1-9, 9p

Subject Terms: MUSCLE diseases, HOSPITAL care, GENOTYPES, SMOOTH muscle diseases, GASTROINTESTINAL diseases, EXONS (Genetics)

eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Authors: Sheppard, Sarah, Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni, Hakonarson, Hakon, Zackai, Elaine, Quintero-Rivera, Fabiola

Source: In Molecular Genetics and Metabolism April 2021 132 Supplement 1:S183-S183

Mitochondrial myopathy associated with a novel mutation in mtDNA

Authors: Pancrudo, Jacklyn, Shanske, Sara, Coku, Jorida, Lu, J., Mardach, Rebecca, Akman, Orhan, Krishna, Sindu, Bonilla, Eduardo, DiMauro, Salvatore

Source: In Neuromuscular Disorders 2007 17(8):651-654

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Biotin dependency due to a defect in biotin transport.

Authors: Mardach, Rebecca, Zempleni, Janos, Wolf, Barry, Cannon, Martin J., Jennings, Michael L., Cress, Sally, Boylan, Jane, Roth, Susan, Cederbaum, Stephen, Mock, Donald M.

Source: Journal of Clinical Investigation. 6/15/2002, Vol. 109 Issue 12, p1617. 7p. 3 Charts, 2 Graphs.

Subject Terms: *BIOTIN, *EXCRETION, *ORGANIC acids

Report on the Safety of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease and the Transition From Clinic to Home Infusions During Treatment Protocol HGT-GCB-058

Authors: Pastores, Gregory M ^*, Rosenbloom, Barry E ^*, Weinreb, Neal J, Goker-Alpan, Ozlem ^*, Mardach, Rebecca ^*, Lipson, Mark ^*, Ibrahim, Jennifer ^*, Cohn, Gabriel M ^*, Zahrieh, David ^*, Mistry, Pramod K ^*

Source: In Blood 18 November 2011 118(21):1101-1101

Isolated Isobutyryl-CoA Dehydrogenase Deficiency: An Unrecognized Defect in Human Valine Metabolism

Authors: Roe, Charles R., Cederbaum, Stephen D., Roe, Diane S., Mardach, Rebecca, Galindo, Alvaro, Sweetman, Lawrence

Source: Molecular Genetics and Metabolism; December 1998, Vol. 65 Issue: 4 p264-271, 8p

Serine deficiency disorder- a potentially treatable cause of microcephaly. Case report and review of literature.

Authors: Gomes, Adriana Maria Tavares¹ (AUTHOR), Padaon, Hyacinth¹ (AUTHOR), Mardach, Rebecca¹ (AUTHOR), Gangoiti, Jon¹ (AUTHOR), Barshop, Bruce¹ (AUTHOR)

Source: Molecular Genetics & Metabolism. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.

Subject Terms: *MICROCEPHALY