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D

Deeksha Bali

Duke University Health System
H指数:47
被引数:7,874
浏览量:0

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Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina

行动中的早期检测：在北卡罗来纳州发展和完善庞贝病新生儿筛查

Molecular Genetics and Metabolism
IF3.5
2026-08-280
PRE
Molly M. Crenshaw; Erica B. Nading; Jamie Mills; Erin Huggins; Natalie Krohl; Deeksha Bali; Sarah P. Young; Ashlee R. Stiles; Kimberly Blake; Lara Percenti; Dee Pettit; Sam Freeman; Scott Shone; Edwin C. Ferren; Katherine J. Dempsey; Kayleigh Bright; Catherine Rehder; Priya S. Kishnani; Jennifer L. Cohen
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-02-010
PRE
Goldstein, Jennifer; Balog, Amanda; Bali, Deeksha; Reeves, Emily E. B.; Demirbas, Didem; Fernandez, Raquel; Giliberto, Florencia; Groopman, Emily; Hung, Christina; Lacaria, Melanie; Mao, Rong; Mohan, Shruthi; Peck, Dawn; Pollard, Laura; Rehder, Catherine; Savatt, Juliann; Schmidt, Ryan; St Clair, Pepper; Vairo, Filippo; White, Amy; Wood, Tim; Clarke, Lorne A.
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

使用ClinGen临床有效性框架评估溶酶体疾病中涉及的基因

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-11-010
OAAI
Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Vairo, Filippo Pinto e; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

庞贝病的变异分类; ClinGen溶酶体病变异治疗专家小组的ACMG/AMP规范

MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-09-011
PRE
Goldstein, Jennifer L.; Mcglaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A.; Schachter, Miriam; Son, Rachel G.; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto e Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease
OBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
2023-06-010
OA
Cohen, Jennifer L.; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E.; Bali, Deeksha; Young, Sarah P.; Gelb, Michael H.; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El Demellawy, Dina; Strickland, Kyle C.; Lougheed, Jane; Moon-Grady, Anita; Lianoglou, Billie R.; Harmatz, Paul; Kishnani, Priya S.; MacKenzie, Tippi C.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-03-0120
PRE
Koch, Rebecca L.; Soler-Alfonso, Claudia; Kiely, Bridget T.; Asai, Akihiro; Smith, Ariana L.; Bali, Deeksha S.; Kang, Peter B.; Landstrom, Andrew P.; Akman, H. Orhan; Burrow, T. Andrew; Orthmann-Murphy, Jennifer L.; Goldman, Deberah S.; Pendyal, Surekha; El-Gharbawy, Areeg H.; Austin, Stephanie L.; Case, Laura E.; Schiffmann, Raphael; Hirano, Michio; Kishnani, Priya S.
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2022-12-0840
OA
Cohen, Jennifer L.; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E.; Bali, Deeksha; Young, Sarah P.; Gelb, Michael H.; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El Demellawy, Dina; Strickland, Kyle C.; Lougheed, Jane; Moon-Grady, Anita; Lianoglou, Billie R.; Harmatz, Paul; Kishnani, Priya S.; MacKenzie, Tippi C.

研究方向

暂未获取到该数据
P
Priya S. Kishnani
H 指数:75论文数:762被引数:2.2万
D
Dwight D. Koeberl
H 指数:43论文数:212被引数:6,224
S
Sarah P. Young
H 指数:41论文数:162被引数:5,405
C
Catherine Rehder
H 指数:30论文数:129被引数:4,339
J
Jennifer Goldstein
H 指数:32论文数:111被引数:3,972
S
Stephanie Austin
H 指数:29论文数:187被引数:3,177
J
Jian Dai
H 指数:18论文数:65被引数:1,396
D
David S. Millington
H 指数:62论文数:322被引数:1.5万
L
Laura E. Case
H 指数:33论文数:123被引数:9,529
B
Beth L. Thurberg
H 指数:40论文数:237被引数:5,744