Elizabeth C Engle

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 16

Top Venues

medRxiv : the preprint server for health sciences

International journal of environmental research and public health

Human mutation

Nature genetics

Howard Hughes Medical Institute

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Howard Hughes Medical Institute

United States

Investigator

Harvard Medical School

United States

Professor :: Neurology and Ophthalmology

Boston Children's Hospital

United States

Senior Associate :: Neurology

Publications

Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv : the preprint server for health sciences (2024)
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv : the preprint server for health sciences (2024)
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv : the preprint server for health sciences (2024)
Denise K Liberton, Konstantinia Almpani, Rashmi Mishra, Carol Bassim, Carol Van Ryzin, null On Behalf Of The Moebius Syndrome Research Consortium, Bryn D Webb, Ethylin Wang Jabs, Elizabeth C Engle, Francis S Collins, Irini Manoli, Janice S Lee
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. International journal of environmental research and public health 21 (5) (2024)
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv : the preprint server for health sciences (2024)
Denise K Liberton, Konstantinia Almpani, Rashmi Mishra, Carol Bassim, Carol Van Ryzin, null On Behalf Of The Moebius Syndrome Research Consortium, Bryn D Webb, Ethylin Wang Jabs, Elizabeth C Engle, Francis S Collins, Irini Manoli, Janice S Lee
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. International journal of environmental research and public health 21 (5) (2024)
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv : the preprint server for health sciences (2024)
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, null null, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne H O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. medRxiv : the preprint server for health sciences (2024)
Denise K Liberton, Konstantinia Almpani, Rashmi Mishra, Carol Bassim, Carol Van Ryzin, null On Behalf Of The Moebius Syndrome Research Consortium, Bryn D Webb, Ethylin Wang Jabs, Elizabeth C Engle, Francis S Collins, Irini Manoli, Janice S Lee
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. International journal of environmental research and public health 21 (5) (2024)
Denise K Liberton, Konstantinia Almpani, Rashmi Mishra, Carol Bassim, Carol Van Ryzin, null On Behalf Of The Moebius Syndrome Research Consortium, Bryn D Webb, Ethylin Wang Jabs, Elizabeth C Engle, Francis S Collins, Irini Manoli, Janice S Lee
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. International journal of environmental research and public health 21 (5) (2024)
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Sarah J Garnai, Brenda J Barry, Tammy Ray, Michael Kosicki, Caroline D Robson, Zhongyang Zhang, Thomas E Collins, Alon Gelber, Brandon M Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E Warburton, Carol Van Ryzin, Tanya J Lehky, Christopher Zalewski, Kelly A King, Carmen C Brewer, Audrey Thurm, Joseph Snow, Flavia M Facio, Narisu Narisu, Lori L Bonnycastle, Amy Swift, Peter S Chines, Jessica L Bell, Suresh Mohan, Mary C Whitman, Sandra E Staffieri, James E Elder, Joseph L Demer, Alcy Torres, Elza Rachid, Christiane Al-Haddad, Rose-Mary N Boustany, David A Mackey, Angela F Brady, María Fenollar-Cortés, Melanie Fradin, Tjitske Kleefstra, George W Padberg, Salmo Raskin, Mario Teruo Sato, Stuart H Orkin, Stephen C J Parker, Tessa A Hadlock, Lisenka E L M Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S Collins, Len A Pennacchio, Irini Manoli, Elizabeth C Engle
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature genetics (2023)
Mary C Whitman, Brenda J Barry, Caroline D Robson, Flavia M Facio, Carol Van Ryzin, Wai-Man Chan, Tanya J Lehky, Audrey Thurm, Christopher K Zalewski, Kelly A King, Carmen Brewer, Konstantinia Almpani, Janice S Lee, Angela Delaney, Edmond J FitzGibbon, Paul R Lee, Camilo Toro, Scott M Paul, Omar A Abdul-Rahman, Bryn D Webb, Ethylin Wang Jabs, Hans Ulrik Moller, Dorte Ancher Larsen, Jayne H Antony, Christopher Troedson, Alan Sl Ma, Glad Ragnhild, Katrine V Wirgenes, Emma Tham, Malin Kvarnung, Timothy James Maarup, Sarah MacKinnon, David G Hunter, Francis S Collins, Irini Manoli, Elizabeth C Engle
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Human genetics 140 (12) (2021)
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, Wai-Man Chan, Mary C Whitman, Sherin Shaaban, Caroline D Robson, Sarah MacKinnon, Eleina M England, Hugh J McMillan, Christopher Kelly, Brandon M Pratt, null null, Anne H O'Donnell-Luria, Daniel G MacArthur, Kym M Boycott, David G Hunter, Elizabeth C Engle
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. European journal of human genetics : EJHG 29 (5) (2021)
Mervyn G Thomas, Gail D E Maconachie, Helen J Kuht, Wai-Man Chan, Viral Sheth, Michael Hisaund, Rebecca J McLean, Brenda Barry, Bashir Al-Diri, Frank A Proudlock, Zhanhan Tu, Elizabeth C Engle, Irene Gottlob
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. International journal of molecular sciences 22 (5) (2021)
Virginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, Sergio B Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo D Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C Engle, Sheila Unger, Frederic Shapiro, Andrea Superti-Furga, Carlo Rivolta, Belinda Campos-Xavier
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Suzanna G M Frints, Friederike Hennig, Roberto Colombo, Sebastien Jacquemont, Paulien Terhal, Holly H Zimmerman, David Hunt, Bryce A Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul-Rahman, Vanessa Suckow, Alberto Fernández-Jaén, Kees van Roozendaal, Servi J C Stevens, Merryn V E Macville, Salwan Al-Nasiry, Koen van Gassen, Norbert Utzig, Suzanne M Koudijs, Lesley McGregor, Saskia M Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S Lee, Elizabeth C Engle, Gunnar Houge, Gyri A Gradek, Andrew G L Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C M Hennekam, Hiromi Hirata, Vera M Kalscheuer
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human mutation 40 (12) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Elizabeth C Engle