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K

Karlla W. Brigatti

Clinic for Special Children
H指数:20
被引数:1,748

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A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice

与门诺家族中抑郁症相关的GPR156罕见变异会导致小鼠下丘脑核过度活跃和应激敏感性。

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2025-04-140
OA
Millera, Bradley R.; Gonzaga-Jaureguic, Claudia; Brigattie, Karlla W.; de Jonga, Job; Breeseg, Robert S.; Ko, Seungyeon; Puffenbergere, Erik G.; Van Houtc, Cristopher; Younge, Millie; Lunah, Victor M.; Staplesc, Jeffrey; First, Michael B.; Gregoirea, Hilledna J.; Dworka, Andrew J.; Pefanisg, Evangelos; Mccarthyc, Shane; Brydges, Susannah; Rojasg, Jose; Yec, Bin; Stahlc, Eli; Di Gioiac, Silvio Alessandro; Hena, Rene; Elwoodi, Kevin; Rosoklijaa, Gorazd; Lic, Dadong; Mellisg, Scott; Careyi, David; Crollg, Susan D.; Overtonc, John D.; Macdonaldg, Lynn E.; Economidesc, Aris N.; Shuldinerc, Alan R.; Chuhmaf, Nao; Rayportf, Stephen; Aminj, Najaf; Kushnera, Steven A.; Haberg, Nicole Alessandri-; Markx, Sander; Strauss, Kevin A.
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease

BCKDHA-BCKDHB双基因疗法在两种小鼠模型和一头经典型枫糖尿病牛中恢复了代谢稳态

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2025-02-260
PRE
Wang, Jiaming; Poskitt, Laura E.; Gallagher, Jillian; Puffenberger, Erik G.; Wynn, R. Max; Shishodia, Gauri; Chuang, David T.; Beever, Jonathan; Hardin, Donald L.; Brigatti, Karlla W.; Baker, William C.; Gately, Rachael; Bertrand, Stephanie; Rodrigues, Ashlin; Benatti, Hector R.; Taghian, Toloo; Hall, Erin; Prestigiacomo, Rachel; Liang, Jialing; Chen, Gong; Zhou, Xuntao; Ren, Lingzhi; He, Ran; Su, Qin; Xie, Jun; Jiang, Zhong; Gruntman, Alisha; Strauss, Kevin A.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
NATURE COMMUNICATIONS
IF15.7
2022-11-0420
OAAI
Grange, Laura J.; Reynolds, John J.; Ullah, Farid; Isidor, Bertrand; Shearer, Robert F.; Latypova, Xenia; Baxley, Ryan M.; Oliver, Antony W.; Ganesh, Anil; Cooke, Sophie L.; Jhujh, Satpal S.; McNee, Gavin S.; Hollingworth, Robert; Higgs, Martin R.; Natsume, Toyoaki; Khan, Tahir; Martos-Moreno, Gabriel A.; Chupp, Sharon; Mathew, Christopher G.; Parry, David; Simpson, Michael A.; Nahavandi, Nahid; Yuksel, Zafer; Drasdo, Mojgan; Kron, Anja; Vogt, Petra; Jonasson, Annemarie; Seth, Saad Ahmed; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W.; Stegmann, Alexander P. A.; Kanemaki, Masato; Josifova, Dragana; Uchiyama, Yuri; Oh, Yukiko; Morimoto, Akira; Osaka, Hitoshi; Ammous, Zineb; Argente, Jesus; Matsumoto, Naomichi; Stumpel, Constance T. R. M.; Taylor, Alexander M. R.; Jackson, Andrew P.; Bielinsky, Anja-Katrin; Mailand, Niels; Le Caignec, Cedric; Davis, Erica E.; Stewart, Grant S.
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry
LIVER INTERNATIONAL
IF5.2
2022-03-2913
OAAI
Aronson, Sem J.; Junge, Norman; Trabelsi, Mediha; Kelmemi, Wided; Hubert, Aurelie; Brigatti, Karlla W.; Fox, Michael D.; de Knegt, Robert J.; Escher, Johanna C.; Ginocchio, Virginia M.; Iorio, Raffaele; Zhu, Yan; Ozcay, Figen; Rahim, Fakher; El-Shabrawi, Mortada H. F.; Shteyer, Eyal; Di Giorgio, Angelo; D'Antiga, Lorenzo; Mingozzi, Federico; Brunetti-Pierri, Nicola; Strauss, Kevin A.; Labrune, Philippe; Mrad, Ridha; Baumann, Ulrich; Beuers, Ulrich; Bosma, Piter J.
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain
MOLECULAR CELL
IF16.6
2022-01-014
OAAI
Ferguson, Cole J.; Urso, Olivia; Bodrug, Tatyana; Gassaway, Brandon M.; Watson, Edmond R.; Prabu, Jesuraj R.; Lara-Gonzalez, Pablo; Martinez-Chacin, Raquel C.; Wu, Dennis Y.; Brigatti, Karlla W.; Puffenberger, Erik G.; Taylor, Cora M.; Haas-Givler, Barbara; Jinks, Robert N.; Strauss, Kevin A.; Desai, Arshad; Gabel, Harrison W.; Gygi, Steven P.; Schulman, Brenda A.; Brown, Nicholas G.; Bonni, Azad
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-0119
OAAI
Usmani, Muhammad A.; Ahmed, Zubair M.; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J.; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C.; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A.; Lee, Hane; Colao, Emma; Motazacker, M. Mahdi; Brigatti, Karlla W.; Puffenberger, Erik G.; Riazuddin, S. Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K.; Wagner, Matias; Schultz, Matthew J.; Seri, Marco; Kievit, Anneke J. A.; Perrotti, Nicola; Wassink-Ruiter, J. S. Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-10-0116
OAAI
Mendoza-Ferreira, Natalia; Karakaya, Mert; Cengiz, Nur; Beijer, Danique; Brigatti, Karlla W.; Gonzaga-Jauregui, Claudia; Fuhrmann, Nico; Hoelker, Irmgard; Thelen, Maximilian P.; Zetzsche, Sebastian; Rombo, Roman; Puffenberger, Erik G.; De Jonghe, Peter; Deconinck, Tine; Zuchner, Stephan; Strauss, Kevin A.; Carson, Vincent; Schrank, Bertold; Wunderlich, Gilbert; Baets, Jonathan; Wirth, Brunhilde
RSRCI loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
BRAIN
IF11.7
2020-03-307
OAAI
Scala, Marcello; Mojarrad, Majid; Riazuddin, Saima; Brigatti, Karlla W.; Ammous, Zineb; Cohen, Julie S.; Hosny, Heba; Usmani, Muhammad A.; Shahzad, Mohsin; Riazuddin, Sheikh; Stanley, Valentina; Eslahi, Atiye; Person, Richard E.; Elbendary, Hasnaa M.; Comi, Anne M.; Poskitt, Laura; Salpietro, Vincenzo; Rosenfeld, Jill A.; Williams, Katie B.; Marafi, Dana; Xia, Fan; Waberski, Marta Biderman; Zaki, Maha S.; Gleeson, Joseph; Puffenberger, Erik; Houlden, Henry; Maroofian, Reza
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

支链 α-酮酸脱氢酶缺乏症 (枫糖浆尿病): 治疗，生物标志物和结果

MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-03-01110
OAAI
Strauss, Kevin A.; Carson, Vincent J.; Soltys, Kyle; Young, Millie E.; Bowser, Lauren E.; Puffenberger, Erik G.; Brigatti, Karlla W.; Williams, Katie B.; Robinson, Donna L.; Hendrickson, Christine; Beiler, Keturah; Taylor, Cora M.; Haas-Givler, Barbara; Chopko, Stephanie; Hailey, Jennifer; Muelly, Emilie R.; Shellmer, Diana A.; Radcliff, Zachary; Rodrigues, Ashlin; Loeven, KaLynn; Heaps, Adam D.; Mazariegos, George, V; Morton, D. Holmes
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier
MOLECULAR GENETICS AND METABOLISM
IF3.5
2019-04-0133
PREAI
Bowser, Lauren E.; Young, Millie; Wenger, Olivia K.; Ammous, Zineb; Brigatti, Karlla W.; Carson, Vincent J.; Moser, Teresa; Deline, James; Aoki, Kazuhiro; Morlet, Thierry; Scott, Ethan M.; Puffenberger, Erik G.; Robinson, Donna L.; Hendrickson, Christine; Salvin, Jonathan; Gottlieb, Steven; Heaps, Adam D.; Tiemeyer, Michael; Strauss, Kevin A.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-11-0122
OAAI
Morimoto, Marie; Waller-Evans, Helen; Ammous, Zineb; Song, Xiaofei; Strauss, Kevin A.; Pehlivan, Davut; Gonzaga-Jauregui, Claudia; Puffenberger, Erik G.; Holst, Charles R.; Karaca, Ender; Brigatti, Karlla W.; Maguire, Emily; Coban-Akdemir, Zeynep H.; Amagata, Akiko; Lau, C. Christopher; Chepa-Lotrea, Xenia; Macnamara, Ellen; Tos, Tulay; Isikay, Sedat; Nehrebecky, Michele; Overton, John D.; Klein, Matthew; Markello, Thomas C.; Posey, Jennifer E.; Adams, David R.; Lloyd-Evans, Emyr; Lupski, James R.; Gahl, William A.; Malicdan, May Christine V.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

影响酪氨酰-tRNA合成酶 (YARS) 催化结构域的突变的纯合性导致多系统疾病

HUMAN MOLECULAR GENETICS
IF3.2
2018-10-0922
OAAI
Williams, Katie B.; Brigatti, Karlla W.; Puffenberger, Erik G.; Gonzaga-Jauregui, Claudia; Griffin, Laurie B.; Martinez, Erick D.; Wenger, Olivia K.; Yoder, Mark A.; Kandula, Vinay V. R.; Fox, Michael D.; Demczko, Matthew M.; Poskitt, Laura; Furuya, Katryn N.; Reid, Jeffrey G.; Overton, John D.; Baras, Aris; Miles, Lili; Radhakrishnan, Kadakkal; Carson, Vincent J.; Antonellis, Anthony; Jinks, Robert N.; Strauss, Kevin A.

研究方向

暂未获取到该数据
K
Kevin A. Strauss
H 指数:55论文数:187被引数:9,784
E
Erik G. Puffenberger
H 指数:55论文数:138被引数:1.1万
C
Claudia Gonzaga‐Jauregui
H 指数:48论文数:163被引数:1.3万
M
Millie Young
H 指数:10论文数:19被引数:520
V
Vincent J. Carson
H 指数:7论文数:14被引数:432
L
Lauren E. Bowser
H 指数:6论文数:8被引数:369
K
Katie B. Williams
H 指数:9论文数:19被引数:441
J
John D. Overton
H 指数:63论文数:199被引数:2.1万
Z
Zineb Ammous
H 指数:10论文数:30被引数:250
D
David R. Lynch
H 指数:73论文数:383被引数:2.7万