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G

Gunter Scharer

Rady Children's Hospital San Diego
H指数:22
被引数:2,403

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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-12-011
PRE
Kingsmore, Stephen F.; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M.; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R.; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S.; Sanford, Erica; Smith, Laurie D.; Willis, Mary J.; Wigby, Kristen; Reimers, Rebecca
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-12-011
PRE
Kingsmore, Stephen F.; Wright, Meredith; Smith, Laurie D.; Liang, Yupu; Mowrey, William R.; Protopsaltis, Liana; Bainbridge, Matthew; Baker, Mei; Batalov, Sergey; Blincow, Eric; Cao, Bryant; Caylor, Sara; Chambers, Christina; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Guidugli, Lucia; Hall, Kevin P.; Hansen, Christian; Kiel, Mark; van der Kraan, Lucita; Krilow, Chad; Kwon, Hugh; Madhavrao, Lakshminarasimha; Lefebvre, Sebastien; Leipzig, Jeremy; Mardach, Rebecca; Moore, Barry; Oh, Danny; Olsen, Lauren; Ontiveros, Eric; Owen, Mallory J.; Reimers, Rebecca; Scharer, Gunter; Schleit, Jennifer; Shelnutt, Seth; Mehtalia, Shyamal S.; Oriol, Albert; Sanford, Erica; Schwartz, Steve; Wigby, Kristen; Willis, Mary J.; Yandell, Mark; Kunard, Chris M.; Defay, Thomas
Response to Grosse et al.
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-06-011
OAAI
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
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-09-0185
OAAI
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
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
NATURE COMMUNICATIONS
IF15.7
2022-07-2634
OAAI
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.; Zhu, Zhanyang; Batalov, Sergey; Chowdhury, Shimul; Rego, Seema; Perry, James; Speziale, Mark; Nespeca, Mark; Wright, Meredith S.; Reese, Martin G.; De la Vega, Francisco M.; Azure, Joe; Frise, Erwin; Rigby, Charlene Son; White, Sandy; Hobbs, Charlotte A.; Gilmer, Sheldon; Knight, Gail; Oriol, Albert; Lenberg, Jerica; Nahas, Shareef A.; Perofsky, Kate; Kim, Kyu; Carroll, Jeanne; Coufal, Nicole G.; Sanford, Erica; Wigby, Kristen; Weir, Jacqueline; Thomson, Vicki S.; Fraser, Louise; Lazare, Seka S.; Shin, Yoon H.; Grunenwald, Haiying; Lee, Richard; Jones, David; Tran, Duke; Gross, Andrew; Daigle, Patrick; Case, Anne; Lue, Marisa; Richardson, James A.; Reynders, John; Defay, Thomas; Hall, Kevin P.; Veeraraghavan, Narayanan; Kingsmore, Stephen F.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT (vol 19, pg 104, 2017)
GENETICS IN MEDICINE
IF6.2
2018-09-011
OAAI
Coughlin, Curtis R., II; Swanson, Michael A.; Kronquist, Kathryn; Acquaviva, Cecile; Hutchin, Tim; Rodriguez-Pombo, Pilar; Vaisanen, Marja-Leena; Spector, Elaine; Creadon-Swindell, Geralyn; Bras-Goldberg, Ana M.; Rahikkala, Elisa; Moilanen, Jukka S.; Mahieu, Vincent; Matthijs, Gert; Bravo-Alonso, Irene; Perez-Cerda, Celia; Ugarte, Magdalena; Vianey-Saban, Christine; Scharer, Gunter H.; Van Hove, Johan L. K.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
GENETICS IN MEDICINE
IF6.2
2017-01-0161
OAAI
Coughlin, Curtis R., II; Swanson, Michael A.; Kronquist, Kathryn; Acquaviva, Cecile; Hutchin, Tim; Rodriguez-Pomba, Pilar; Vaisanen, Marja-Leena; Spector, Elaine; Creadon-Swindell, Geralyn; Bras-Goldberg, Ana M.; Rahikkala, Elisa; Moilanen, Jukka S.; Mahieu, Vincent; Matthijs, Gert; Bravo-Alonso, Irene; Perez-Cerda, Celia; Ugarte, Magdalena; Vianey-Saban, Christine; Scharer, Gunter H.; Van Hove, Johan L. K.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
BRAIN
IF11.7
2013-12-10183
OAAI
Baker, Peter R., II; Friederich, Marisa W.; Swanson, Michael A.; Shaikh, Tamim; Bhattacharya, Kaustuv; Scharer, Gunter H.; Aicher, Joseph; Creadon-Swindell, Geralyn; Geiger, Elizabeth; MacLean, Kenneth N.; Lee, Wang-Tso; Deshpande, Charu; Freckmann, Mary-Louise; Shih, Ling-Yu; Wasserstein, Melissa; Rasmussen, Malene B.; Lund, Allan M.; Procopis, Peter; Cameron, Jessie M.; Robinson, Brian H.; Brown, Garry K.; Brown, Ruth M.; Compton, Alison G.; Dieckmann, Carol L.; Collard, Renata; Coughlin, Curtis R., II; Spector, Elaine; Wempe, Michael F.; Van Hove, Johan L. K.

研究方向

暂未获取到该数据
J
Johan L.K. Van Hove
H 指数:45论文数:139被引数:6,797
C
Curtis R. Coughlin
H 指数:28论文数:107被引数:2,785
S
Stephen F. Kingsmore
H 指数:80论文数:339被引数:2.9万
D
David Dimmock
H 指数:58论文数:207被引数:1.3万
M
Michael A. Swanson
H 指数:17论文数:40被引数:1,481
M
Mary Willis
H 指数:18论文数:47被引数:1,250
L
Laurie D. Smith
H 指数:28论文数:108被引数:3,487
R
Rebecca Mardach
H 指数:13论文数:46被引数:864
C
Christian Holm Hansen
H 指数:41论文数:173被引数:7,140
K
Kristen Wigby
H 指数:20论文数:65被引数:2,344