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E

Elizabeth C. Engle

boston children's hospital
H指数:53
被引数:9,231

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Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking

大规模斜视全基因组关联研究（GWAS）确定了风险位点，并为与母亲吸烟的关联提供了支持。

Nature Communications
IF15.7
2025-08-230
OAAI
Weixiong He; Peter J. van der Most; Jue-Sheng Ong; Liang-Dar Hwang; Yeda Wu; Morten S. Magnø; Jelle Vehof; Kristi Krebs; Laura Mauring; Katrin Õunap; Erik Abner; Nicholas G. Martin; Denis Plotnikov; Chen Jiang; Ronald B. Melles; Puya Gharahkhani; Harold Snieder; Teele Palumaa; Kuldar Kaljurand; Jeremy A. Guggenheim; David A. Mackey; Elizabeth C. Engle; Hélène Choquet; Stuart MacGregor
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2025-03-010
PRE
Jurgens, Julie A.; Ruiz, Paola M. Matos; King, Jessica; Foster, Emma E.; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J.; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C.; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M.; Easterbrooks, Teresa; Mensching, Fiona M.; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M.; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G.; Robson, Caroline D.; Bulyk, Martha L.; Engle, Elizabeth C.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
NATURE COMMUNICATIONS
IF15.7
2024-09-270
OAAI
Lee, Arthur S.; Ayers, Lauren J.; Kosicki, Michael; Chan, Wai-Man; Fozo, Lydia N.; Pratt, Brandon M.; Collins, Thomas E.; Zhao, Boxun; Rose, Matthew F.; Sanchis-Juan, Alba; Fu, Jack M.; Wong, Isaac; Zhao, Xuefang; Tenney, Alan P.; Lee, Cassia; Laricchia, Kristen M.; Barry, Brenda J.; Bradford, Victoria R.; Jurgens, Julie A.; England, Eleina M.; Lek, Monkol; Macarthur, Daniel G.; Lee, Eunjung Alice; Talkowski, Michael E.; Brand, Harrison; Pennacchio, Len A.; Engle, Elizabeth C.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare disorder
GENETICS IN MEDICINE
IF6.2
2024-06-011
OAAI
Lecoquierre, Francois; Punt, A. Mattijs; Ebstein, Frederic; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Se bastien; Mau-Them, Frededic Tran; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; England, Eleina M.; Ojeda, Mayra Martinez; Engle, Elizabeth C.; Robson, Caroline D.; Morrow, Michelle; Innes, A. Micheil; Lamont, Ryan; Sanderson, Matthea; Krger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
NATURE GENETICS
IF31.8
2023-06-297
OAAI
Tenney, Alan P.; Di Gioia, Silvio Alessandro; Webb, Bryn D.; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J.; Barry, Brenda J.; Ray, Tammy; Kosicki, Michael; Robson, Caroline D.; Zhang, Zhongyang; Collins, Thomas E.; Gelber, Alon; Pratt, Brandon M.; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E.; Van Ryzin, Carol; Lehky, Tanya J.; Zalewski, Christopher; King, Kelly A.; Brewer, Carmen C.; Thurm, Audrey; Snow, Joseph; Facio, Flavia M.; Narisu, Narisu; Bonnycastle, Lori L.; Swift, Amy; Chines, Peter S.; Bell, Jessica L.; Mohan, Suresh; Whitman, Mary C.; Staffieri, Sandra E.; Elder, James E.; Demer, Joseph L.; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A.; Brady, Angela F.; Fenollar-Cortes, Maria; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W.; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H.; Parker, Stephen C. J.; Hadlock, Tessa A.; Vissers, Lisenka E. L. M.; van Bokhoven, Hans; Jabs, Ethylin Wang; Collins, Francis S.; Pennacchio, Len A.; Manoli, Irini; Engle, Elizabeth C.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study
OPHTHALMOLOGY
IF9.5
2022-06-0137
OA
Kuht, Helen J.; Maconachie, Gail D. E.; Han, Jinu; Kessel, Line; van Genderen, Maria M.; McLean, Rebecca J.; Hisaund, Michael; Tu, Zhanhan; Hertle, Richard W.; Gronskov, Karen; Bai, Dayong; Wei, Aihua; Li, Wei; Jiao, Yonghong; Smirnov, Vasily; Choi, Jae-Hwan; Tobin, Martin D.; Sheth, Viral; Purohit, Ravi; Dawar, Basu; Girach, Ayesha; Strul, Sasha; May, Laura; Chen, Fred K.; Jeffery, Rachael C. Heath; Aamir, Abdullah; Sano, Ronaldo; Jin, Jing; Brooks, Brian P.; Kohl, Susanne; Arveiler, Benoit; Montoliu, Lluis; Engle, Elizabeth C.; Proudlock, Frank A.; Nishad, Garima; Pani, Prateek; Varma, Girish; Gottlob, Irene; Thomas, Mervyn G.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
HUMAN MUTATION
IF3.7
2022-02-039
OA
Natera-de Benito, Daniel; Jurgens, Julie A.; Yeung, Alison; Zaharieva, Irina T.; Manzur, Adnan; DiTroia, Stephanie P.; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J.; Chan, Wai-Man; Elder, James E.; Christodoulou, John; Hay, Eleanor; England, Eleina M.; Munot, Pinki; Hunter, David G.; Feng, Lucy; Ledoux, Danielle; O'Donnell-Luria, Anne; Phadke, Rahul; Engle, Elizabeth C.; Sarkozy, Anna; Muntoni, Francesco
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
HUMAN GENETICS
IF3.6
2021-10-1515
OAAI
Whitman, Mary C.; Barry, Brenda J.; Robson, Caroline D.; Facio, Flavia M.; Van Ryzin, Carol; Chan, Wai-Man; Lehky, Tanya J.; Thurm, Audrey; Zalewski, Christopher; King, Kelly A.; Brewer, Carmen; Almpani, Konstantinia; Lee, Janice S.; Delaney, Angela; FitzGibbon, Edmond J.; Lee, Paul R.; Toro, Camilo; Paul, Scott M.; Abdul-Rahman, Omar A.; Webb, Bryn D.; Jabs, Ethylin Wang; Moller, Hans Ulrik; Larsen, Dorte Ancher; Antony, Jayne H.; Troedson, Christopher; Ma, Alan; Ragnhild, Glad; Wirgenes, Katrine, V; Tham, Emma; Kvarnung, Malin; Maarup, Timothy James; MacKinnon, Sarah; Hunter, David G.; Collins, Francis S.; Manoli, Irini; Engle, Elizabeth C.
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-03-0118
OAAI
Jurgens, Julie A.; Barry, Brenda J.; Lemire, Gabrielle; Chan, Wai-Man; Whitman, Mary C.; Shaaban, Sherin; Robson, Caroline D.; MacKinnon, Sarah; England, Eleina M.; McMillan, Hugh J.; Kelly, Christopher; Pratt, Brandon M.; O'Donnell-Luria, Anne; MacArthur, Daniel G.; Boycott, Kym M.; Hunter, David G.; Engle, Elizabeth C.
Recurrent Rare Copy Number Variants Increase Risk for Esotropia

复发性罕见拷贝数变异增加内斜视的风险

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2020-08-119
OAAI
Whitman, Mary C.; Di Gioia, Silvio Alessandro; Chan, Wai-Man; Gelber, Alon; Pratt, Brandon M.; Bell, Jessica L.; Collins, Thomas E.; Knowles, James A.; Armoskus, Christopher; Pato, Michele; Pato, Carlos; Shaaban, Sherin; Staffieri, Sandra; MacKinnon, Sarah; Maconachie, Gail D. E.; Elder, James E.; Traboulsi, Elias I.; Gottlob, Irene; Mackey, David A.; Hunter, David G.; Engle, Elizabeth C.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
GENETICS IN MEDICINE
IF6.2
2019-12-0137
OAAI
Peter, Virginie G.; Quinodoz, Mathieu; Pinto-Basto, Jorge; Sousa, Sergio B.; Di Gioia, Silvio Alessandro; Soares, Gabriela; Leal, Gabriela Ferraz; Silva, Eduardo D.; Gobert, Rosanna Pescini; Miyake, Noriko; Matsumoto, Naomichi; Engle, Elizabeth C.; Unger, Sheila; Shapiro, Frederic; Superti-Furga, Andrea; Rivolta, Carlo; Campos-Xavier, Belinda
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
HUMAN MUTATION
IF3.7
2019-08-2130
OAAI
Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordass, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernandez-Jaen, Alberto; van Roozendaal, Kees; Stevens, Servi J. C.; Macville, Merryn V. E.; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S.; Engle, Elizabeth C.; Houge, Gunnar; Gradek, Gyri A.; Douglas, Andrew G. L.; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C.; Hirata, Hiromi; Kalscheuer, Vera M.

研究方向

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W
Wai‐Man Chan
H 指数:53论文数:222被引数:1.0万
C
Caroline Andrews
H 指数:36论文数:145被引数:6,044
M
Mary C. Whitman
H 指数:23论文数:98被引数:2,777
D
David G. Hunter
H 指数:49论文数:510被引数:7,928
J
Joseph L. Demer
H 指数:64论文数:593被引数:1.4万
B
Brenda J. Barry
H 指数:31论文数:69被引数:5,142
C
Caroline D. Robson
H 指数:44论文数:191被引数:6,311
S
Sarah MacKinnon
H 指数:23论文数:79被引数:1,563
M
Max A. Tischfield
H 指数:20论文数:48被引数:3,174
I
Irène Gottlob
H 指数:52论文数:449被引数:9,446