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1.

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

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.

Am J Hum Genet; 109(9): 1605-1619, 2022 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-36007526

2.

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.

Cakici, Julie A; Dimmock, David P; Caylor, Sara A; Gaughran, Mary; Clarke, Christina; Triplett, Cynthia; Clark, Michelle M; Kingsmore, Stephen F; Bloss, Cinnamon S.

Am J Hum Genet; 107(5): 953-962, 2020 11 05.

Artículo en Inglés | MEDLINE | ID: mdl-33157008

3.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Dimmock, David P; Clark, Michelle M; Gaughran, Mary; Cakici, Julie A; Caylor, Sara A; Clarke, Christina; Feddock, Michele; Chowdhury, Shimul; Salz, Lisa; Cheung, Cynthia; Bird, Lynne M; Hobbs, Charlotte; Wigby, Kristen; Farnaes, Lauge; Bloss, Cinnamon S; Kingsmore, Stephen F.

Am J Hum Genet; 107(5): 942-952, 2020 11 05.

Artículo en Inglés | MEDLINE | ID: mdl-33157007

4.

Better and faster is cheaper.

Sanford Kobayashi, Erica F; Dimmock, David P.

Hum Mutat; 43(11): 1495-1506, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-35723630

5.

An online compendium of treatable genetic disorders.

Bick, David; Bick, Sarah L; Dimmock, David P; Fowler, Tom A; Caulfield, Mark J; Scott, Richard H.

Am J Med Genet C Semin Med Genet; 187(1): 48-54, 2021 03.

Artículo en Inglés | MEDLINE | ID: mdl-33350578

6.

Response to Grosse et al.

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.

Am J Hum Genet; 110(6): 1017, 2023 Jun 01.

Artículo en Inglés | MEDLINE | ID: mdl-37267897

7.

The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.

Vanden Avond, Mark A; Meng, Hui; Beatka, Margaret J; Helbling, Daniel C; Prom, Mariah J; Sutton, Jessica L; Slick, Rebecca A; Dimmock, David P; Pertusati, Fabrizio; Serpi, Michaela; Pileggi, Elisa; Crutcher, Patrick; Thomas, Stephen; Lawlor, Michael W.

J Inherit Metab Dis; 44(2): 492-501, 2021 03.

Artículo en Inglés | MEDLINE | ID: mdl-33368311

8.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F.

N Engl J Med; 384(22): 2159-2161, 2021 06 03.

Artículo en Inglés | MEDLINE | ID: mdl-34077649

9.

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

Sanford, Erica F; Clark, Michelle M; Farnaes, Lauge; Williams, Matthew R; Perry, James C; Ingulli, Elizabeth G; Sweeney, Nathaly M; Doshi, Ami; Gold, Jeffrey J; Briggs, Benjamin; Bainbridge, Matthew N; Feddock, Michele; Watkins, Kelly; Chowdhury, Shimul; Nahas, Shareef A; Dimmock, David P; Kingsmore, Stephen F; Coufal, Nicole G.

Pediatr Crit Care Med; 20(11): 1007-1020, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31246743

10.

Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure.

Thompson, Whitney S; Greenmyer, Jacob R; Lanpher, Brendan C; Brumbaugh, Jane E; Bendel-Stenzel, Ellen M; Dimmock, David P; Hobbs, Charlotte A; Ibrahim, Samar H; Hildreth, Amber N.

Liver Transpl; 29(1): 118-121, 2023 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-35861277

11.

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Li, Hong; Byers, Heather M; Diaz-Kuan, Alicia; Vos, Miriam B; Hall, Patricia L; Tortorelli, Silvia; Singh, Rani; Wallenstein, Matthew B; Allain, Meredith; Dimmock, David P; Farrell, Ryan M; McCandless, Shawn; Gambello, Michael J.

Mol Genet Metab; 123(4): 428-432, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29510902

12.

Should states adopt newborn screening for early infantile Krabbe disease?

Dimmock, David P.

Genet Med; 18(3): 217-20, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-26845105

13.

Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care.

Lee, Daniel D; Veith, Regan L; Dimmock, David P; Samyn, Margaret M.

Pediatr Cardiol; 35(8): 1474-7, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-25182012

14.

Response to Metcalfe et al.

Dimmock, David P.

Genet Med; 20(9): 1093, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29240079

15.

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.

Allred, Erika T; Perens, Elliot A; Coufal, Nicole G; Sanford Kobayashi, Erica; Kingsmore, Stephen F; Dimmock, David P.

Front Pediatr; 11: 1157630, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-36999085

16.

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.

Bupp, Caleb P; Ames, Elizabeth G; Arenchild, Madison K; Caylor, Sara; Dimmock, David P; Fakhoury, Joseph D; Karna, Padmani; Lehman, April; Meghea, Cristian I; Misra, Vinod; Nolan, Danielle A; O'Shea, Jessica; Sharangpani, Aditi; Franck, Linda S; Scheurer-Monaghan, Andrea.

Children (Basel); 10(1)2023 Jan 04.

Artículo en Inglés | MEDLINE | ID: mdl-36670656

17.

Should we implement population screening for fragile X?

Dimmock, David P.

Genet Med; 19(12): 1295-1299, 2017 12.

Artículo en Inglés | MEDLINE | ID: mdl-28771250

18.

Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Green, Robert C; Berg, Jonathan S; Berry, Gerard T; Biesecker, Leslie G; Dimmock, David P; Evans, James P; Grody, Wayne W; Hegde, Madhuri R; Kalia, Sarah; Korf, Bruce R; Krantz, Ian; McGuire, Amy L; Miller, David T; Murray, Michael F; Nussbaum, Robert L; Plon, Sharon E; Rehm, Heidi L; Jacob, Howard J.

Genet Med; 14(4): 405-10, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22422049

19.

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

Buchaklian, Adam H; Helbling, Daniel; Ware, Stephanie M; Dimmock, David P.

Mol Genet Metab; 107(1-2): 92-4, 2012 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-22622127

20.

Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches.

Prasad, Suyash; Dimmock, David P; Greenberg, Benjamin; Walia, Jagdeep S; Sadhu, Chanchal; Tavakkoli, Fatemeh; Lipshutz, Gerald S.

Hum Gene Ther; 33(23-24): 1228-1245, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-35994385

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

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Better and faster is cheaper.

An online compendium of treatable genetic disorders.

Response to Grosse et al.

The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure.

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Should states adopt newborn screening for early infantile Krabbe disease?

Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care.

Response to Metcalfe et al.

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.

Should we implement population screening for fragile X?

Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches.