arrow
返回
D

Donna M. Martin

university of michigan system

47H指数
175论文数
1.0W被引数
收录论文 62
发表时间
A clinical and genotype-phenotype analysis of MACF1 variantsMACF1变异的临床与基因型-表型分析
err2025-09-08
err0
PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
err分享
err收藏
Where to start? The Irish Emergency Department Antimicrobial Discharge (EDAD) study: a multicentre, prospective cohort analysis
err2024-03-12
err0
errOAAI
errRafferty, Aisling; Talento, Alida Fe; Drew, Richard; Fitzpatrick, Patrick; Tedford, Kara; Barrett, Michael; Mahomed, Husnain; O'Regan, Sabrina; Delany, Louise; O'Connor, Sile; Buseckyte, Agne; Brovchin, Andrei; Hassan, Elhaytham; Marzec, Anna; Martin, Donna; Greene, Clare; Marriott, John; Cunney, Robert
err分享
err收藏
CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development
err2024-02-26
err3
errOAAI
errGao, Jingxia; Skidmorea, Jennifer M.; Cimermana, Jelka; Ritter, K. Elaine; Qiu, Jingyun; Wilsond, Lindsey M. Q.; Raphaele, Yehoash; Kwanb, Kelvin Y.; Martin, Donna M.
err分享
err收藏
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
err2023-09-05
err8
errOAAI
errRoux, Isabelle; Fenollar-Ferrer, Cristina; Lee, Hyun Jae; Chattaraj, Parna; Lopez, Ivan A.; Han, Kyungreem; Honda, Keiji; Brewer, Carmen C.; Butman, John A.; Morell, Robert J.; Martin, Donna M.; Griffith, Andrew J.
err分享
err收藏
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder患有神经发育障碍的个体中GATAD2A的从头变体: GATAD2A-related神经发育障碍
err2023-07-01
err1
errOAAI
errWerren, Elizabeth A.; Guxholli, Alba; Jones, Natasha; Wagner, Matias; Hannibal, Iris; Granadillo, Jorge L.; Tyndall, Amanda, V; Moccia, Amanda; Kuehl, Ryan; Levandoski, Kristin M.; Day-Salvatore, Debra L.; Wheeler, Marsha; Chong, Jessica X.; Bamshad, Michael J.; Innes, A. Micheil; Pierson, Tyler Mark; Mackay, Joel P.; Bielas, Stephanie L.; Martin, Donna M.
err分享
err收藏
Practical considerations for reinterpretation of individual genetic variants
err2023-05-01
err8
errOAAI
errAppelbaum, Paul S.; Berger, Sara M.; Brokamp, Elly; Brown, Henry Shelton; Burke, Wylie; Clayton, Ellen Wright; Evans, Barbara J.; Hamid, Rizwan; Marchant, Gary E.; Martin, Donna M.; O'Connor, Bridget C.; Pagan, Jose A.; Parens, Erik; Roberts, Jessica L.; Rowe, John; Schneider, John; Siegel, Karolynn; Veenstra, David L.; Chung, Wendy K.
err分享
err收藏
Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length
err2023-01-01
err1
errOAAI
errKrueger, Laura A.; Bills, Jessica D.; Lim, Zun Yi; Skidmore, Jennifer M.; Martin, Donna M.; Morris, Ann C.
err分享
err收藏
GIGYF1 disruption associates with autism and impaired IGF-1R signaling
err2022-10-03
err10
errOAAI
errChen, Guodong; Yu, Bin; Tan, Senwei; Tan, Jieqiong; Jia, Xiangbin; Zhang, Qiumeng; Zhang, Xiaolei; Jiang, Qian; Hua, Yue; Han, Yaoling; Luo, Shengjie; Hoekzema, Kendra; Bernier, Raphael A.; Earl, Rachel K.; Kurtz-Nelson, Evangeline C.; Idleburg, Michaela J.; Madan-Khetarpal, Suneeta; Clark, Rebecca; Sebastian, Jessica; Fernandez-Jaen, Alberto; Alvarez, Sara; King, Staci D.; Ramos, Luiza L. P.; Santos, Mara Lucia S. F.; Martin, Donna M.; Brooks, Dan; Symonds, Joseph D.; Cutcutache, Ioana; Pan, Qian; Hu, Zhengmao; Yuan, Ling; Eichler, Evan E.; Xia, Kun; Guo, Hui
err分享
err收藏
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines
err2022-09-01
err15
errOAAI
errBerger, Sara M.; Appelbaum, Paul S.; Siegel, Karolynn; Wynn, Julia; Saami, Akilan M.; Brokamp, Elly; O'Connor, Bridget C.; Hamid, Rizwan; Martin, Donna M.; Chung, Wendy K.
err分享
err收藏
CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression
err2020-10-15
err29
errOAAI
errYao, Hui; Hannum, Douglas F.; Zhai, Yiwen; Hill, Sophie F.; Albanus, Ricardo D. 'Oliveira; Lou, Wenjia; Skidmore, Jennifer M.; Sanchez, Gilson; Saiakhova, Alina; Bielas, Stephanie L.; Scacheri, Peter; Ljungman, Mats; Parker, Stephen C. J.; Martin, Donna M.
err分享
err收藏
Changing the editorial process at JCI and JCI Insight in response to the COVID-19 pandemic
err2020-03-23
err7
errOAAI
errAhima, Rexford S.; Jackson, Sarah; Casadevall, Arturo; Semenza, Gregg L.; Tomaselli, Gordon; Collins, Kathleen L.; Lieberman, Andrew P.; Martin, Donna M.; Reddy, Pavan
err分享
err收藏
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
err2019-10-16
err27
errOAAI
errZiats, Mark N.; Ahmad, Ayesha; Bernat, John A.; Fisher, Rachel; Glassford, Megan; Hannibal, Mark C.; Jacher, Joseph E.; Weiser, Natasha; Keegan, Catherine E.; Lee, Kristen N.; Marzulla, Tessa B.; O'Connor, Bridget C.; Quinonez, Shane C.; Seemann, Lauren; Turner, Lauren; Bielas, Stephanie; Harris, Nicholas L.; Ogle, Jacob D.; Innis, Jeffrey W.; Martin, Donna M.
err分享
err收藏
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
err2019-08-01
err48
errOAAI
errHaijes, Hanneke A.; Koster, Maria J. E.; Rehmann, Holger; Li, Dong; Hakonarson, Hakon; Cappuccio, Gerarda; Hancarova, Miroslava; Lehalle, Daphne; Reardon, Willie; Schaefer, G. Bradley; Lehman, Anna; van de Laar, Ingrid M. B. H.; Tesselaar, Coranne D.; Turner, Clesson; Goldenberg, Alice; Patrier, Sophie; Thevenon, Julien; Pinelli, Michele; Brunetti-Pierri, Nicola; Prchalova, Darina; Havlovicova, Marketa; Vlckova, Marketa; Sedlacek, Zdenek; Lopez, Elena; Ragoussis, Vassilis; Pagnamenta, Alistair T.; Kini, Usha; Vos, Harmjan R.; van Es, Robert M.; van Schaik, Richard F. M. A.; van Essen, Ton A. J.; Kibaek, Maria; Taylor, Jenny C.; Sullivan, Jennifer; Shashi, Vandana; Petrovski, Slave; Fagerberg, Christina; Martin, Donna M.; van Gassen, Koen L., I; Pfundt, Rolph; Falk, Marni J.; McCormick, Elizabeth M.; Timmers, H. T. Marc; van Hasselt, Peter M.
err分享
err收藏
Mutation update for the SATB2 gene
err2019-04-25
err44
errOAAI
errZarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry-Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada-Veras, Juvianee, I; vanDooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P.; Maarup, Timothy J.; Alsters, Suzanne I. M.; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M.; Turner, Lesley; Raggio, Victor; Spangenberg, Lucia; Garcia-Minaur, Sixto; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C.; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.
err分享
err收藏
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
err2018-09-01
err39
errOAAI
errMoccia, Amanda; Srivastava, Anshika; Skidmore, Jennifer M.; Bernat, John A.; Wheeler, Marsha; Chong, Jessica X.; Nickerson, Deborah; Bamshad, Michael; Hefner, Margaret A.; Martin, Donna M.; Bielas, Stephanie L.
err分享
err收藏
Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8
err2018-08-14
err74
errOAAI
errMarie, Corentine; Clavairoly, Adrien; Frah, Magali; Hmidan, Hatem; Yan, Jun; Zhao, Chuntao; Van Steenwinckel, Juliette; Daveau, Romain; Zalc, Bernard; Hassan, Bassem; Thomas, Jean-Leon; Gressens, Pierre; Ravassard, Philippe; Moszer, Ivan; Martin, Donna M.; Lu, Q. Richard; Parras, Carlos
err分享
err收藏
Balancing dual demands on the physician-scientist workforce
err2018-07-16
err5
errOAAI
errMartin, Donna M.; Rathmell, W. Kimryn; Tavazoie, Sohail F.
err分享
err收藏