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D

Denise M. Kay

New York State Department of Health
H指数:34
被引数:6,746

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荣誉奖项

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Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience

纽约州囊性纤维症新生儿筛查算法的演变：二十年的经验

Pediatric Pulmonology
IF2.3
2026-05-020
PRE
Elinor Langfelder-Schwind; Denise M. Kay; Maria Berdella; Joan K. DeCelie-Germana; Zafer N. Soultan; Danielle M. Goetz; Christopher N. Fortner; John J. Welter; Robert Giusti; Karen Voter; Robert Kaslovsky; Carlos A. Saavedra-Matiz; Norma P. Tavakoli; New York State Cystic Fibrosis Newborn Screening Consortium; Michele Caggana; Hossein Sadeghi; Catherine Kier
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

使用基因组测序扩展新生儿筛查早期可行条件

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
IF55
2025-01-213
PRE
Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.
Characterization of 223 infants with CFTR-related metabolic syndrome/ Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State

对纽约州通过IRT-DNA-SEQ在新生儿筛查前三年发现的223例CFTR相关代谢综合征/囊性纤维化筛查阳性但诊断不明确（CRMS/CFSPID）患儿的特征分析

JOURNAL OF CYSTIC FIBROSIS
IF6
2024-11-010
PRE
Sadeghi, Hossein; Kay, Denise M.; DeCelie-Germana, Joan K.; Berdella, Maria; Soultan, Zafer N.; Goetz, Danielle M.; Caggana, Michele; Fortner, Christopher N.; Giusti, Robert; Kaslovsky, Robert; Stevens, Colleen; Tavakoli, Norma; Voter, Karen; Welter, John J.
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2023-10-010
OAAI
Blue, Elizabeth E.; White, Janson J.; Dush, Michael K.; Gordon, William W.; Wyatt, Brent H.; White, Peter; Marvin, Colby T.; Helle, Emmi; Ojala, Tiina; Priest, James R.; Jenkins, Mary M.; Almli, Lynn M.; Reefhuis, Jennita; Pangilinan, Faith; Brody, Lawrence C.; McBride, Kim L.; Garg, Vidu; Shaw, Gary M.; Romitti, Paul A.; Nembhard, Wendy N.; Browne, Marilyn L.; Werler, Martha M.; Kay, Denise M.; Mital, Seema; Chong, Jessica X.; Nascone-Yoder, Nanette M.; Bamshad, Michael J.
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2022-10-2711
OAAI
Kharrazi, Martin; Sacramento, Charlene; Comeau, Anne Marie; Hale, Jaime E.; Caggana, Michele; Kay, Denise M.; Lee, Rachel; Reilly, Brendan; Thompson, John D.; Nasr, Samya Z.; Kleyn, Mary; Hoffman, Gary; Baker, Mei W.; Clarke, Colleen; Harris, Cheryl L.; Dorley, M. Christine; Fryman, Hilary; Sutaria, Ankit; Hietala, Amy; Winslow, Holly; Richards, Holly; Therrell, Bradford L.
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency

通过新生儿筛查胍乙酸甲基转移酶缺乏症患者的前瞻性鉴定

MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-09-0110
PRE
Hart, Kim; Rohrwasser, Andreas; Wallis, Heidi; Golsan, Heather; Shao, Jianyin; Anderson, Taylor; Wang, Xiaoli; Szabo-Fresnais, Nicolas; Morrissey, Mark; Kay, Denise M.; Wojcik, Matthew; Galvin-Parton, Patricia A.; Longo, Nicola; Caggana, Michele; Pasquali, Marzia
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

实施基于人群的新生儿筛查显示脊髓性肌萎缩症的发生率较低

GENETICS IN MEDICINE
IF6.2
2020-08-0152
OAAI
Kay, Denise M.; Stevens, Colleen F.; Parker, April; Saavedra-Matiz, Carlos A.; Sack, Virginia; Chung, Wendy K.; Chiriboga, Claudia A.; Engelstad, Kristin; Laureta, Emma; Farooq, Osman; Ciafaloni, Emma; Lee, Bo Hoon; Malek, Sohail; Treidler, Simona; Anziska, Yaacov; Delfiner, Leslie; Sakonju, Ai; Caggana, Michele
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
FRONTIERS IN ENDOCRINOLOGY
IF4.6
2020-07-0310
OAAI
Martinez de LaPiscina, Idoia; Hernandez-Ramirez, Laura C.; Portillo, Nancy; Gomez-Gila, Ana L.; Urrutia, Ines; Martinez-Salazar, Rosa; Garcia-Castano, Alejandro; Aguayo, Anibal; Rica, Itxaso; Gaztambide, Sonia; Faucz, Fabio R.; Keil, Margaret F.; Lodish, Maya B.; Quezado, Martha; Pankratz, Nathan; Chittiboina, Prashant; Lane, John; Kay, Denise M.; Mills, James L.; Castano, Luis; Stratakis, Constantine A.
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

一项全基因组关联研究表明BMP7基因座是非综合征性异位颅缝早闭症的危险因素

HUMAN GENETICS
IF3.6
2020-04-0728
OA
Justice, Cristina M.; Cuellar, Araceli; Bala, Krithi; Sabourin, Jeremy A.; Cunningham, Michael L.; Crawford, Karen; Phipps, Julie M.; Zhou, Yan; Cilliers, Deirdre; Byren, Jo C.; Johnson, David; Wall, Steven A.; Morton, Jenny E., V; Noons, Peter; Sweeney, Elizabeth; Weber, Astrid; Rees, Katie E. M.; Wilson, Louise C.; Simeonov, Emil; Kaneva, Radka; Yaneva, Nadezhda; Georgiev, Kiril; Bussarsky, Assen; Senders, Craig; Zwienenberg, Marike; Boggan, James; Roscioli, Tony; Tamburrini, Gianpiero; Barba, Marta; Conway, Kristin; Sheffield, Val C.; Brody, Lawrence; Mills, James L.; Kay, Denise; Sicko, Robert J.; Langlois, Peter H.; Tittle, Rachel K.; Botto, Lorenzo D.; Jenkins, Mary M.; LaSalle, Janine M.; Lattanzi, Wanda; Wilkie, Andrew O. M.; Wilson, Alexander F.; Romitti, Paul A.; Boyadjiev, Simeon A.
Genomic analyses in African populations identify novel risk loci for cleft palate

非洲人群的基因组分析确定了left裂的新风险位点

HUMAN MOLECULAR GENETICS
IF3.2
2018-11-1968
OAAI
Butali, Azeez; Mossey, Peter A.; Adeyemo, Wasiu L.; Eshete, Mekonen A.; Gowans, Lord J. J.; Busch, Tamara D.; Jain, Deepti; Yu, Wenjie; Huan, Liu; Laurie, Cecelia A.; Laurie, Cathy C.; Nelson, Sarah; Li, Mary; Sanchez-Lara, Pedro A.; Magee, William P., III; Magee, Kathleen S.; Auslander, Allyn; Brindopke, Frederick; Kay, Denise M.; Caggana, Michele; Romitti, Paul A.; Mills, James L.; Audu, Rosemary; Onwuamah, Chika; Oseni, Ganiyu O.; Owais, Arwa; James, Olutayo; Olaitan, Peter B.; Aregbesola, Babatunde S.; Braimah, Ramat O.; Oginni, Fadekemi O.; Oladele, Ayodeji O.; Bello, Saidu A.; Rhodes, Jennifer; Shiang, Rita; Donkor, Peter; Obiri-Yeboah, Solomon; Arthur, Fareed Kow Nanse; Twumasi, Peter; Agbenorku, Pius; Plange-Rhule, Gyikua; Oti, Alexander Acheampong; Ogunlewe, Olugbenga M.; Oladega, Afisu A.; Adekunle, Adegbayi A.; Erinoso, Akinwunmi O.; Adamson, Olatunbosun O.; Elufowoju, Abosede A.; Ayelomi, Oluwanifemi I.; Hailu, Taiye; Hailu, Abiye; Demissie, Yohannes; Derebew, Miliard; Eliason, Steve; Romero-Bustillous, Miguel; Lo, Cynthia; Park, James; Desai, Shaan; Mohammed, Muiawa; Abate, Firke; Abdur-Rahman, Lukman O.; Anand, Deepti; Saadi, Irfaan; Oladugba, Abimibola V.; Lachke, Salil A.; Amendt, Brad A.; Rotimi, Charles N.; Marazita, Mary L.; Cornell, Robert A.; Murray, Jeffrey C.; Adeyemo, Adebowale A.
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

纽约州以人群为基础的新生儿筛查脊髓性肌萎缩症的初步研究

GENETICS IN MEDICINE
IF6.2
2018-06-01110
OAAI
Kraszewski, Jennifer N.; Kay, Denise M.; Stevens, Colleen F.; Koval, Carrie; Haser, Bianca; Ortiz, Veronica; Albertorio, Anthony; Cohen, Lilian L.; Jain, Ritu; Andrew, Sarah P.; Young, Sally Dunaway; LaMarca, Nicole M.; De Vivo, Darryl C.; Caggana, Michele; Chung, Wendy K.

研究方向

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M
Michele Caggana
H 指数:41论文数:271被引数:6,385
C
Cyrus P. Zabetian
H 指数:73论文数:261被引数:2.1万
H
Haydeh Payami
H 指数:58论文数:158被引数:1.6万
J
James L. Mills
H 指数:83论文数:472被引数:2.3万
S
Stewart A. Factor
H 指数:86论文数:503被引数:2.8万
J
John G. Nutt
H 指数:102论文数:396被引数:3.5万
J
Jennifer S. Montimurro
H 指数:16论文数:33被引数:2,171
D
Donald S. Higgins
H 指数:31论文数:87被引数:3,514
P
Paul A. Romitti
H 指数:60论文数:379被引数:1.2万
C
Carlos A. Saavedra‐Matiz
H 指数:20论文数:48被引数:1,811