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N

Nicole J. Boczek

Mayo Clinic
H指数:28
被引数:2,903

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-11-011
OAAI
Gong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders
JOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
2023-07-010
OAAI
Shen, Wei; Sellers, Heidi L.; Choate, Lauren A.; Stein, Mariam I.; Tandale, Pratyush P.; Tan, Jiayu; Setlem, Rohit; Sakai, Yuta; Fadra, Numrah; Sosa, Carlos; McClelland, Shawn P.; Barnett, Sarah S.; Rasmussen, Kristen J.; Runke, Cassandra K.; Smoley, Stephanie A.; Tillmans, Lori S.; Marcou, Cherisse A.; Rowsey, Ross A.; Thorland, Erik C.; Boczek, Nicole J.; Kearney, Hutton M.
Impact of integrated translational research on clinical exome sequencing (vol 23, pg 498, 2021)
GENETICS IN MEDICINE
IF6.2
2023-02-011
PRE
Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.
Best practices for the interpretation and reporting of clinical genome sequencing
GENETICS IN MEDICINE
IF6.2
2022-03-011
OA
Austin-Tse, Chrissy; Jobanputra, Vaidehi; Perry, Denise; Bick, David; Taft, Ryan; Venner, Eric; Gibbs, Richard; Young, Ted; Barnett, Sarah; Belmont, John; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna (Kasia); Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David; Rehman, Atteeq; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton; Rehm, Heidi
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
GENETICS IN MEDICINE
IF6.2
2021-11-0129
OAAI
Patel, Mayher J.; DiStefano, Marina T.; Oza, Andrea M.; Hughes, Madeline Y.; Wilcox, Emma H.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T.; Avraham, Karen B.; Kremer, Hannie; Griffith, Andrew J.; Rehm, Heidi L.; Amr, Sami S.; Abou Tayoun, Ahmad N.
Impact of integrated translational research on clinical exome sequencing
GENETICS IN MEDICINE
IF6.2
2021-03-0132
OAAI
Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine, I; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

ClinGen专家164听力损失基因-疾病对的临床有效性治疗

GENETICS IN MEDICINE
IF6.2
2019-10-0170
OAAI
DiStefano, Marina T.; Hemphill, Sarah E.; Oza, Andrea M.; Siegert, Rebecca K.; Grant, Andrew R.; Hughes, Madeline Y.; Cushman, Brandon J.; Azaiez, Hela; Booth, Kevin T.; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti, Lisa A.; Tekin, Mustafa; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Amr, Sami S.; Abdelhak, Sonia; Alexander, John; Avraham, Karen; Bhatia, Neha; Bai, Donglin; Boczek, Nicole; Brownstein, Zippora; Burt, Rachel; Bylstra, Yasmin; del Castillo, Ignacio; Choi, Byung Yoon; Downie, Lilian; Friedman, Thomas; Giersch, Anne; Goh, Jasmine; Greinwald, John; Griffith, Andrew J.; Hernandez, Amy; Holt, Jeffrey; Hosoya, Makoto; Ying, Lim Jiin; Jain, Kanika; Kim, Un-Kyung; Kremer, Hannie; Krantz, Ian; Leal, Suzanne; Lewis, Morag; Liu, Xue Zhong; Low, Wendy; Lu, Yu; Luo, Minjie; Masmoudi, Saber; Ming, Tan Yuen; Moreno-Pelayo, Miguel Angel; Morin, Matias; Morton, Cynthia; Murray, Jaclyn; Mutai, Hideki; Nara, Kiyomitsu; Pandya, Arti; Pei-Rong, Sylvia Kam; Smith, Richard J. H.; Jamuar, Saumya Shekhar; Suer, Funda Elif; Usami, Shin-Ichi; Van Camp, Guy; Yamazawa, Kazuki; Yuan, Hui-Jun; Black-Zeigelbein, Elizabeth; Zhang, Keijan
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site
EUROPACE
IF7.4
2019-08-1313
OAAI
Mellor, Greg J.; Panwar, Pankaj; Lee, Andrea K.; Steinberg, Christian; Hathaway, Julie A.; Bartels, Kirsten; Christian, Susan; Balaji, Seshadri; Roberts, Jason D.; Simpson, Chris S.; Boczek, Nicole J.; Tester, David J.; Radbill, Andrew E.; Mok, Ngai-Shing; Hamilton, Robert M.; Kaufman, Elizabeth S.; Eugenio, Paul L.; Weiss, Raul; January, Craig; McDaniel, George M.; Leather, Richard A.; Erickson, Christopher; Falik, Shelley; Behr, Elijah R.; Wilde, Arthur A. M.; Sanatani, Shubhayan; Ackerman, Michael J.; Van Petegem, Filip; Krahn, Andrew D.; Laksman, Zachary
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

遗传性听力损失的ACMG/AMP变体解释指南的专家规范

HUMAN MUTATION
IF3.7
2018-10-11371
OAAI
Oza, Andrea M.; DiStefano, Marina T.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Murry, Jaclyn B.; Hasadsri, Linda; Nara, Kiyomitsu; Kenna, Margaret; Booth, Kevin T.; Azaiez, Hela; Griffith, Andrew; Avraham, Karen B.; Kremer, Hannie; Rehm, Heidi L.; Amr, Sami S.; Tayoun, Ahmad N. Abou
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-04-01116
OAAI
Blackburn, Patrick R.; Xu, Zhi; Tumelty, Kathleen E.; Zhao, Rose W.; Monis, William J.; Harris, Kimberly G.; Gass, Jennifer M.; Cousin, Margot A.; Boczek, Nicole J.; Mitkov, Mario V.; Cappel, Mark A.; Francomano, Clair A.; Parisi, Joseph E.; Klee, Eric W.; Faqeih, Eissa; Alkuraya, Fowzan S.; Layne, Matthew D.; McDonnell, Nazli B.; Atwal, Paldeep S.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding
JOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
2017-03-0118
OAAI
Blackburn, Patrick R.; Tischer, Alexander; Zimmermann, Michael T.; Kemppainen, Jennifer L.; Sastry, Sujatha; Knight Johnson, Amy E.; Cousin, Margot A.; Boczek, Nicole J.; Oliver, Gavin; Misra, Vinod K.; Gavrilova, Ralitza H.; Lomberk, Gwen; Auton, Matthew; Urrutia, Raul; Klee, Eric W.

研究方向

暂未获取到该数据
M
Michael J. Ackerman
H 指数:154论文数:1,431被引数:8.2万
E
Eric W. Klee
H 指数:54论文数:461被引数:1.0万
D
David J. Tester
H 指数:86论文数:568被引数:2.2万
M
Margot A. Cousin
H 指数:24论文数:85被引数:1,907
C
Cherisse A. Marcou
H 指数:13论文数:44被引数:853
P
Patrick R. Blackburn
H 指数:27论文数:133被引数:3,283
H
Hutton M. Kearney
H 指数:27论文数:91被引数:5,786
L
Lisa A. Schimmenti
H 指数:38论文数:201被引数:6,457
G
Gavin R. Oliver
H 指数:20论文数:87被引数:1,915
D
Dan Ye
H 指数:35论文数:187被引数:3,663