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P

Paul Kruszka

GeneDx LLC
H指数:34
被引数:3,425

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Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over 9,000 Clinical Cases

通过外显子/基因组测序与染色体微阵列检测拷贝数变异的比较研究：基于超过9,000例临床病例

Genetics in Medicine
IF6.2
2026-09-210
OA
Sarah R. Poll; Flavia M. Facio; Kirsty McWalter; Patricia C. Lopes; Amanda Lindy; Bethany Friedman; Kirsten Kelly; Olivia Trimmier; Jane Juusola; Paul Kruszka; Wei Wang; Lisa Dyer; Lisong Shi; Britt Johnson; Ganka Douglas
Implementation of First-Tier Rapid Genome Sequencing in Non-Critical Care Pediatric Wards

在非重症监护儿科病房中实施一级快速基因组测序

The Journal of Pediatrics
IF0
2025-06-230
OA
Alexandra C. Keefe; Abbey A. Scott; Lukas Kruidenier; Jessie Conta; Darci Sternen; Sarah Clowes-Candadai; Shannon M. Stasi; Julia Parish-Morris; Megan Sikes; Margaret P. Adam; Anita E. Beck; Jennifer C. Hayek; Ian Glass; James T. Bennett; Ghayda Mirzaa; Paul Kruszka; Kirsty McWalter; Deborah Copenheaver; Bethany Friedman; Mike Bamshad; Tara L. Wenger
Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis.

扩大儿科全基因组测序的实施：来自SeqFirst提供者的见解，以促进精准遗传诊断的公平获取。

Human Genetics and Genomics Advances
IF3.6
2025-06-030
OAAI
Joon-Ho Yu; Katherine E. MacDuffie; Olivia Sommerland; Tesla Theoryn; Priyanka Murali; Kailyn Anderson; Megan Sikes; Lukas Kruidenier; Heidi I.S. Gildersleeve; Abbey Scott; Kati J. Buckingham; Kirsty McWalter; Paul Kruszka; Alexandra C. Keefe; Jessica X. Chong; David L. Veenstra; Katrina M. Dipple; Tara Wenger; Dan Doherty; Michael J. Bamshad
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

通过新生儿筛查和下一代测序鉴定的男性镶嵌性X连锁肾上腺脑白质营养不良

NPJ GENOMIC MEDICINE
IF4.8
2025-05-090
OAAI
Alexandra C. Keefe; Dana M. Jensen; Meranda M. Pham; Natalie Y T Au; Erika Beckman; Monica Penon-Portmann; Emily Shelkowitz; Renee Bend; Michelle M. Morrow; Paul Kruszka; Divya Vats; Bianca E. Russell; Erica Chan; Derek Wong; Ahna Rabani; Lauren O’Grady; Inderneel Sahai; Kimberly Widmeyer; Ethan D. Sperry; Barbara E. Hallinan; Rebecca Tryon; Troy C. Lund; Florian S. Eichler; Angela Sun; James T. Bennett
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-011
OAAI
Wenger, Tara L.; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J.; Marvin, Colby T.; Shively, Kathryn M.; Bacus, Tamara; Sommerland, Olivia M.; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J.; Love-Nichols, Jamie; Macduffie, Katherine E.; Miller, Danny E.; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L.; Parish-Morris, Julia; Mcwalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A.; Dipple, Katrina; Chong, Jessica X.; Kruszka, Paul; Bamshad, Michael J.
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.
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

杂合UBR5变异导致神经发育综合征伴发育迟缓、自闭症和智力障碍

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-011
PRE
Sabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M.
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
GENETICS IN MEDICINE
IF6.2
2024-12-012
PRE
Cope, Heidi L.; Milko, Laura, V; Jalazo, Elizabeth R.; Crissman, Blythe G.; Foreman, Ann Katherine M.; Powell, Bradford C.; DeJong, Neal A.; Hunter, Jessica Ezzell; Boyea, Beth Lincoln; Forsythe, Ana N.; Wheeler, Anne C.; Zimmerman, Rebekah S.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Monaghan, Kristin G.; Kraczkowski, Christina; Hruska, Kathleen S.; Kruszka, Paul; Kucera, Katerina S.; Berg, Jonathan S.; Powell, Cynthia M.; Peay, Holly L.
Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types

稳定和强大的Xi和Y转录组在四种人类细胞类型的体内和体外驱动细胞类型特异性常染色体和Xa反应

CELL GENOMICS
IF9
2024-09-012
OAAI
Blanton, Laura V.; San Roman, Adrianna K.; Wood, Geryl; Buscetta, Ashley; Banks, Nicole; Skaletsky, Helen; Godfrey, Alexander K.; Pham, Thao T.; Hughes, Jennifer F.; Brown, Laura G.; Kruszka, Paul; Lin, Angela E.; Kastner, Daniel L.; Muenke, Maximilian; Page, David C.
The human Y and inactive X chromosomes similarly modulate autosomal gene expression
CELL GENOMICS
IF9
2024-01-018
OAAI
San Roman, Adrianna K.; Skaletsky, Helen; Godfrey, Alexander K.; Bokil, Neha V.; Teitz, Levi; Singh, Isani; Blanton, Laura V.; Bellott, Daniel W.; Pyntikova, Tatyana; Lange, Julian; Koutseva, Natalia; Hughes, Jennifer F.; Brown, Laura; Phou, Sidaly; Buscetta, Ashley; Kruszka, Paul; Banks, Nicole; Dutra, Amalia; Pak, Evgenia; Lasutschinkow, Patricia C.; Keen, Colleen; Davis, Shanlee M.; Lin, Angela E.; Tartaglia, Nicole R.; Samango-Sprouse, Carole; Muenke, Maximilian; Page, David C.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
BRAIN
IF11.7
2023-12-214
PRE
Singh, Amrita K.; Allington, Garrett; Viviano, Stephen; McGee, Stephen; Kiziltug, Emre; Ma, Shaojie; Zhao, Shujuan; Mekbib, Kedous Y.; Shohfi, John P.; Duy, Phan Q.; DeSpenza, Tyrone; Furey, Charuta G.; Reeves, Benjamin C.; Smith, Hannah; Sousa, Andre M. M.; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R. A.; Alper, Seth L.; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K.; Lifton, Richard P.; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
GENETICS IN MEDICINE
IF6.2
2023-12-0136
OAAI
Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-05-0111
OAAI
Timberlake, Andrew T.; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M.; Stiegler, Amy L.; Boggon, Titus J.; Sanyoura, May; Morrow, Michelle; Wenger, Tara L.; Fernandes, Erica M.; Caluseriu, Oana; Persing, John A.; Jin, Sheng Chih; Lifton, Richard P.; Kahle, Kristopher T.; Kruszka, Paul
The human inactive X chromosome modulates expression of the active X chromosome
CELL GENOMICS
IF9
2023-02-0127
OAAI
San Roman, Adrianna K.; Godfrey, Alexander K.; Skaletsky, Helen; Bellott, Daniel W.; Groff, Abigail F.; Harris, Hannah L.; Blanto, Laura V.; Hughes, Jennifer F.; Brown, Laura; Phou, Sidaly; Buscetta, Ashley; Kruszka, Paul; Banks, Nicole; Dutra, Amalia; Pak, Evgenia; Lasutschinkow, Patricia C.; Keen, Colleen; Davis, Shanlee M.; Tartaglia, Nicole R.; Samango-Sprouse, Carole; Muenke, Maximilian; Page, David C.

研究方向

暂未获取到该数据
M
Maximilian Muenke
H 指数:85论文数:458被引数:2.5万
K
Kirsty McWalter
H 指数:36论文数:151被引数:3,853
A
Ariel F. Martinez
H 指数:23论文数:54被引数:1,704
S
Seth Berger
H 指数:25论文数:116被引数:3,463
Y
Yonit A. Addissie
H 指数:13论文数:33被引数:749
R
Robert J. Lipinski
H 指数:29论文数:88被引数:2,501
K
Kyle Retterer
H 指数:43论文数:103被引数:7,999
胡萍 封面图
胡萍
H 指数:30论文数:96被引数:4,420
K
Karin Weiss
H 指数:20论文数:81被引数:1,443
J
Joshua L. Everson
H 指数:16论文数:38被引数:996