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J

Joy D. Cogan

Vanderbilt University
H指数:53
被引数:1.1万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

非典型长链3-羟基酰基辅酶A脱氢酶缺乏症（LCHADD）的诊断困境由来自两个致病性变异的三种等位基因产物解释

American Journal of Medical Genetics Part A
IF1.7
2026-09-010
OAAI
Furuta, Yutaka; Rives, Lynette C.; Burrow, T. Andrew; Cassini, Thomas A.; Tinker, Rory J.; Robertson, Amy K.; Ezell, Kimberly M.; Hamid, Rizwan; Cogan, Joy D.; Phillips, John A.
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

一名疑似多种酰基辅酶A脱氢酶缺乏症（MADD）婴儿对酮体补充的反应

American Journal of Medical Genetics Part A
IF1.7
2026-09-010
OAAI
Furuta, Yutaka; Bloom, Kaitlyn N.; Vockley, Jerry; Grochowsky, Angela R.; Agrawal, Neena S.; Strickler, Ellen W.; Owen, Natalie N.; Gray, Erica T.; Perera, B. Lakshitha A.; Gamazon, Eric R.; Rives, Lynette C.; Chen, Hua-Chang; Liu, Qi; Hamid, Rizwan; Cogan, Joy D.; Phillips, John A.; Cassini, Thomas A.; Schuler, Bryce A.
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism

尼森-伊西多尔综合征病例系列研究：MED12L杂合变异伴一例二倍体-三倍体嵌合体的有丝分裂不稳定进一步证据

American Journal of Medical Genetics Part A
IF1.7
2026-01-010
OAAI
Stewart, Russell; Ezell, Kimberly M.; Bell, Deanna S.; Corner, Brian; Mcminn, Ashley; Cogan, Joy D.; Hamid, Rizwan; Rives, Lynette; Phillips, John A.; Paddu, Nina; Srivastava, Gitanjali; Marom, Ronit; Ladha, Farah A.; Soler-alfonso, Claudia; Franciskovich, Rachel; Koziura, Mary; Pruthi, Sumit; Richard, Gabriele; Sheedy, Christina B.; Cassini, Thomas
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

表型变异及父系遗传的CHD8变异（导致伴有自闭症和巨头症的智力发育障碍）经表观遗传和结构分析确认

Molecular Genetics & Genomic Medicine
IF1.6
2025-12-170
OAAI
Furuta, Yutaka; Ezell, Kimberly M.; Hamid, Rizwan; Cogan, Joy D.; Cassini, Thomas A.; Rives, Lynette; McMinn, Ashley; Shah, Shailee; Peltier, Amanda C.; Layfield, Stephen; Fletcher, Robin S.; Tedder, Matthew L.; Louie, Raymond J.; Lee, Jennifer A.; Kerkhof, Jennifer; Rzasa, Jessica; Sadikovic, Bekim; Al Mamun, Abdullah; Sheehan, Jonathan H.; Moth, Christopher W.; Meiler, Jens; Vawter-lee, Marissa; Mendoza-sengco, Paola Maria; Holzen, Jennifer B.; Pruthi, Sumit; Phillips III, John A.; Tinker, Rory J.
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

通过深度临床表型分析和果蝇模型解析SLC6A1基因的表型可变性

Human Genetics and Genomics Advances
IF3.6
2025-10-310
OAAI
Kristy L. Jay; Nikhita Gogate; Paige I. Hall; Kimberly M. Ezell; Jonathan C. Andrews; Sharayu V. Jangam; Hongling Pan; Kelvin Pham; Ryan German; Vanessa Gomez; Emily Jellinek-Russo; Eric Storch; Shinya Yamamoto; Oguz Kanca; Hugo J. Bellen; Herman Dierick; Joy D. Cogan; John A. Phillips; Rizwan Hamid; Thomas Cassini; Lynette Rives; Sumit Pruthi; Hua-Chang Chen; Jennifer E. Posey; Michael F. Wangler
Novel variant in CADM3 causes Charcot-Marie-Tooth disease

CADM3的新变体导致charcot-marie-tooth病

BRAIN COMMUNICATIONS
IF4.5
2023-09-051
OAAI
Yalcouye, Abdoulaye; Rebelo, Adriana P.; Cisse, Lassana; Rives, Lynette; Bamba, Salia; Cogan, Joy; Esoh, Kevin; Diarra, Salimata; Ezell, Kimberly M.; Tamega, Abdoulaye; Guinto, Cheick O.; Dohrn, Maike F.; Hamid, Rizwan; Fischbeck, Kenneth H.; Zuchner, Stephan; Landoure, Guida
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-07-2710
PRE
Ganapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth
The Genetic Landscape of Familial Pulmonary Fibrosis

家族性肺纤维化的遗传景观

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
IF19.4
2023-05-1514
PRE
Liu, Qi; Zhou, Yuan; Cogan, Joy D.; Mitchell, Daphne B.; Sheng, Quanhu; Zhao, Shilin; Bai, Youhuang; Ciombor, Kristen K.; Sabusap, Carleen M.; Malabanan, M. Merced; Markin, Cheryl R.; Douglas, Katrina; Ding, Guixiao; Banovich, Nicholas E.; Nickerson, Deborah A.; Blue, Elizabeth E.; Bamshad, Michael J.; Brown, Kevin K.; Schwartz, David A.; Phillips, John A., III; Martinez-Barricarte, Ruben; Salisbury, Margaret L.; Shyr, Yu; Loyd, James E.; Kropski, Jonathan A.; Blackwell, Timothy S.
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2022-10-016
OAAI
Mukherjee, Souhrid; Cassini, Thomas A.; Hu, Ningning; Yang, Tao; Li, Bian; Shen, Wangzhen; Moth, Christopher W.; Rinker, David C.; Sheehan, Jonathan H.; Cogan, Joy D.; Newman, John H.; Hamid, Rizwan; Macdonald, Robert L.; Roden, Dan M.; Meiler, Jens; Kuenze, Georg; Phillips, John A.; Capra, John A.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

PRKAR1B的变异导致自闭症谱系障碍，失用症和对疼痛不敏感的神经发育障碍

GENETICS IN MEDICINE
IF6.2
2021-08-0115
OAAI
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
GENETICS IN MEDICINE
IF6.2
2021-06-0112
OAAI
Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B.; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N.; Zuchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R.; Liu, Pengfei; Wegner, Daniel J.; Paul, Alexander J.; Sunyaev, Shamil R.; Kohane, Isaac S.

研究方向

暂未获取到该数据
J
John A. Phillips
H 指数:79论文数:417被引数:2.2万
J
James E. Loyd
H 指数:88论文数:333被引数:3.9万
R
Rizwan Hamid
H 指数:48论文数:225被引数:8,900
C
Cheryl Markin
H 指数:18论文数:70被引数:6,237
J
Jonathan A. Kropski
H 指数:48论文数:235被引数:1.5万
T
Timothy S. Blackwell
H 指数:92论文数:528被引数:2.8万
E
Eric D. Austin
H 指数:57论文数:296被引数:1.0万
J
John H. Newman
H 指数:68论文数:256被引数:1.5万
K
Kimberly Ezell
H 指数:6论文数:32被引数:180
L
Lynette Rives
H 指数:21论文数:74被引数:1,407