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M

Margot A. Cousin

mayo clinic
H指数:24
被引数:1,907

个人简介

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荣誉奖项

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N-of-1 investigational study of a novel antisense oligonucleotide drug in CHCHD10-related ALS shows early signs of efficacy

N-of-1研究显示，一种新型反义寡核苷酸药物在CHCHD10相关ALS中表现出早期疗效

Med
IF11.8
2026-09-140
PRE
Margot A. Cousin; Aditi I. Dagli; Laurence Mignon; Jaimin S. Shah; Mercedes Prudencio; Tania F. Gendron; Angita Jain; Evan Udine; Marka van Blitterswijk; Erik H. Middlebrooks; Megan H. Donahue; Jany E. Dagher; Jens O. Watzlawik; Wolfdieter Springer; Tejal Parekh; Zachary T. McEachin; Leonard Petrucelli; Björn Oskarsson
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies

为精准度付费：个体化基因靶向疗法N-of-1试验的资助方法

Orphanet Journal of Rare Diseases
IF3.5
2026-05-210
OAAI
Nicole Nolen; Annemieke Aartsma-Rus; Christine Caneva; Curtis R. Coughlin II; Margot A. Cousin; Catherine Douthwright; Holm Graessner; Olivia Kim-McManus; Ashley Kuniholm; Stefanie Leonard; Andrea Martinsen; Margaret Meserve; Matthis Synofzik; Booma Yandava; Timothy W. Yu; Scott Demarest; Roger J. Paxton
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy

LMNB1相关常染色体显性遗传性白质脑病的诊断、管理与监测临床实践指南

NEUROLOGY-GENETICS
IF3.7
2025-10-010
OA
Dhamija, Radhika; Tobin, W. Oliver; Cortelli, Pietro; Padiath, Quasar; Muthusamy, Karthik; Singh Sekhon, Ujjal Didar; Singh, Bishen Jeet; Harris, Dan; Billings, Heather; Mamillo, Keti; Appleberry, Holly; Giorgio, Elisa; Ratti, Stefano; Fogel, Brent L.; Gavrilova, Ralitza; Raininko, Raili; Cousin, Margot A.
Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons

CaMK4上的收敛: 神经元自闭症相关信号通路的关键调节剂

BIOLOGICAL PSYCHIATRY
IF9
2025-03-010
OAAI
Kaiser, Jacqueline; Risteska, Alana; Muller, Abbey G.; Sun, Haoxiong; Lei, Bethany; Nay, Kevin; Means, Anthony R.; Cousin, Margot A.; Drewry, David H.; Oakhill, Jonathan S.; Kemp, Bruce E.; Hannan, Anthony J.; Berk, Michael; Febbraio, Mark A.; Gundlach, Andrew L.; Hill-Yardin, Elisa L.; Scott, John W.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
HUMAN GENETICS
IF3.6
2024-03-270
OA
Ferrer, Alejandro; Duffy, Patrick; Olson, Rory J.; Meiners, Michael A.; Schultz-Rogers, Laura; Macke, Erica L.; Safgren, Stephanie; Morales-Rosado, Joel A.; Cousin, Margot A.; Oliver, Gavin R.; Rider, David; Williams, Megan; Pichurin, Pavel N.; Deyle, David R.; Morava, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klass J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Kaiwar, Charu; Vitek, Carolyn R.; Mcallister, Tammy M.; Wick, Myra J.; Schimmenti, Lisa A.; Lazaridis, Konstantinos N.; Vairo, Filippo Pinto e; Klee, Eric W.
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.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
GENOME MEDICINE
IF11.2
2022-06-1310
OAAI
Cousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Graham, John M., Jr.; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Kloeckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Kuechler, Alma; Lambert, Laetitia; Latypova, Xenia; Lebel, Robert Roger; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Celine; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Sacoto, Maria J. Guillen; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie, Alistair; Klee, Eric W.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

AGO1基因的De novo编码变异会导致神经发育障碍，并导致智力障碍

JOURNAL OF MEDICAL GENETICS
IF3.7
2021-12-1516
OA
Schalk, Audrey; Cousin, Margot A.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurelien; Lasseaux, Eulalie; Lacombre, Didier; Angelini, Chloe; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Raymond J.; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, A. Micheil; Kooy, R. Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth Rosen; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J.; Zweier, Christiane; Reis, Andre; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen L., I; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce R.; Skelton, Tammi; Thompson, Michelle L.; Robin, Nathaniel H.; Rudy, Natasha; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri A.; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Mau-them, Frederic Tran; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari J.; Zimmermann, Michael T.; Klee, Eric W.; Piton, Amelie; Gerard, Benedicte
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

致病性SPTBN1变异引起常染色体显性神经发育综合征

NATURE GENETICS
IF31.8
2021-07-0149
OAAI
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G.; Lorenzo, Damaris N.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
NATURE COMMUNICATIONS
IF15.7
2021-05-0729
OAAI
Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan; Pandey, Udai Bhan
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.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

确定X连锁MSL3-related障碍的基因型和表型谱

GENETICS IN MEDICINE
IF6.2
2021-02-017
OAAI
Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias
Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017)
GENETICS IN MEDICINE
IF6.2
2019-08-010
OAAI
Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul J.; Cousin, Margot A.; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David R.; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Bjoern; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Baena, Neus; Haider, Mohammed Z.; Hardin, Joshua S.; Jeunemaitre, Xavier; Klee, Eric W.; Kornak, Uwe; Landecho, Manuel F.; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muino-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed Z.; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, Sehime; Uysal, Fahrettin; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins, Tom R., II; Taylor, Andrea; Davis, Elaine C.; Zarate, Yuri; Callewaert, Bert
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-07-0141
OAAI
Cousin, Margot A.; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; Schwab, Tanya L.; Williams, Monique; Abraham, Roshini S.; Barnett, Sarah; El-Youssef, Mounif; Graham, Rondell P.; Sanchez, Luz Helena Gutierrez; Hasadsri, Linda; Hoffmann, Georg F.; Hull, Nathan C.; Kopajtich, Robert; Kovacs-Nagy, Reka; Li, Jia-qi; Marx-Berger, Daniela; Mclin, Valerie; McNiven, Mark A.; Mounajjed, Taofic; Prokisch, Holger; Rymen, Daisy; Schulze, Ryan J.; Staufner, Christian; Yang, Ye; Clark, Karl J.; Lanpher, Brendan C.; Klee, Eric W.

研究方向

暂未获取到该数据
E
Eric W. Klee
H 指数:54论文数:461被引数:1.0万
F
Filippo Pinto e Vairo
H 指数:29论文数:293被引数:2,899
G
Gavin R. Oliver
H 指数:20论文数:87被引数:1,915
R
Ralitza H. Gavrilova
H 指数:30论文数:164被引数:3,281
B
Brendan C. Lanpher
H 指数:37论文数:143被引数:4,336
M
Michael T. Zimmermann
H 指数:36论文数:213被引数:5,343
N
Nicole J. Boczek
H 指数:28论文数:87被引数:2,903
P
Pavel N. Pichurin
H 指数:32论文数:107被引数:3,489
D
Dusica Babovic‐Vuksanovic
H 指数:45论文数:196被引数:6,785
P
Patrick R. Blackburn
H 指数:27论文数:133被引数:3,283