Laurie D. Smith

sanofi, rare and neurologic disease research ta

H指数:28

被引数:3,484

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Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats neurogenic and myogenic aspects of Pompe disease in mice

新型转铁蛋白受体介导的酶替代疗法能高效治疗小鼠庞贝病的神经源性及肌源性方面。

Molecular Therapy Methods & Clinical Development

IF4.7

2025-08-050

OAAI

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

Anti-human-TfR-GAA efficiently clears CNS and muscle glycogen in a translatable hTfR-KI/Pompe disease mouse model

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-011

PRE

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

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.

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

GENETICS IN MEDICINE

IF6.2

2022-03-010

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-03-2612

OAAI

Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

新生儿庞贝病筛查中的二线分子遗传检测: 前景与挑战

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2020-04-0517

OAAI

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-0128

OAAI

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE

IF10.1

2015-12-1869

Rapid whole genome sequencing and precision neonatology

SEMINARS IN PERINATOLOGY

IF3.2

2015-12-01139

OAAI

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

NATURE GENETICS

IF31.8

2015-10-0562

OAAI

Guimier, Anne; Gabriel, George C.; Bajolle, Fanny; Tsang, Michael; Liu, Hui; Noll, Aaron; Schwartz, Molly; El Malti, Rajae; Smith, Laurie D.; Klena, Nikolai T.; Jimenez, Gina; Miller, Neil A.; Oufadem, Myriam; de Bellaing, Anne Moreau; Yagi, Hisato; Saunders, Carol J.; Baker, Candice N.; Di Filippo, Sylvie; Peterson, Kevin A.; Thiffault, Isabelle; Bole-Feysot, Christine; Cooley, Linda D.; Farrow, Emily G.; Masson, Cecile; Schoen, Patric; Deleuze, Jean-Francois; Nitschke, Patrick; Lyonnet, Stanislas; de Pontual, Loic; Murray, Stephen A.; Bonnet, Damien; Kingsmore, Stephen F.; Amiel, Jeanne; Bouvagnet, Patrice; Lo, Cecilia W.; Gordon, Christopher T.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

GENOME MEDICINE

IF11.2

2015-09-30253

OAAI

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2015-06-2215

OAAI

Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2 Recapitulate the Mitochondriopathy of the Homologous Null Mouse (vol 36, pg 301, 2015)

HUMAN MUTATION