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The Engle Lab

at the F.M. Kirby Neurobiology Center

News & Events

News & Honors

September 2024
August 2024
July 2024
  • Gabriela Carrillo, PhD (Postdoctoral Fellow, 2022-pres.) received the NIH/NINDS Loan Repayment Program for Pediatric Research Award.
June 2024
  • Andrea Zingaro (Undergraduate Student, 2018) accepted into the International PhD Fellowship Program at the Institute for Research in Biomedicine Barcelona and awarded Marie Skłodowska-Curie Actions Postdoctoral Fellowship.
May 2024
  • Lydia Fozo (Research Assistant, 2022-2024) matriculated to the MD-PhD Program at the Yale School of Medicine.
April 2024
  • Shakti Martinez (Undergraduate Student, 2023) accepted into the Biochemistry, Cellular and Molecular Biology Graduate Program at The Johns Hopkins University School of Medicine.
February 2024
January 2024
December 2023
November 2023
October 2023
September 2023
August 2023
  • Anna Kwon (Undergraduate Student, 2022) earned her AS in Biological Sciences at Bunker Hill Community College and matriculated to Tufts University.
July 2023
June 2023
April 2023
March 2023
  • Fiona Mensching (Undergraduate Student, 2022-2023) received the Summer 2023 Lehigh University Grants for Experiential Learning in Health Award.
February 2023
January 2023
December 2022
September 2022
August 2022
July 2022
June 2022
  • Lauren Ayers (Research Assistant, 2020-2022) matriculated to the PhD Program in Biomedical Sciences at Boston University School of Medicine.
May 2022
  • Lindsay Berube (Undergraduate Student, 2018-2022) earned her BS in Nursing at Simmons University.
April 2022
March 2022
  • Emma Foster (Research Assistant, 2021-2022) started a new position as Aquaculture Specialist in the Insco Lab at the Dana-Farber Cancer Institute.
February 2022
  • Dignity Butts (Undergraduate Student, 2021-2023) received the Spring 2022 Harvard College Research Program Award.
January 2022
November 2021
September 2021
August 2021
  • Phillip Ang (Undergraduate Student, 2014-2016) matriculated to The University of Chicago Pritzker School of Medicine.
  • Sara Golidy (Undergraduate Student, 2016) matriculated to the Indiana University School of Medicine.
June 2021
  • Long Cheng, PhD (Postdoctoral Fellow, 2006-2015) started a new position as Senior Scientist, Process Science and Technology, at the Astellas Institute for Regenerative Medicine.
May 2021
January 2021
December 2020
August 2020
  • Carla Nyquist (Administrative Associate, 2017-2020) matriculated to the MPH Program at the Colorado School of Public Health.
July 2020
  • Paola Matos-Ruiz (Undergraduate Student, 2017-2018 & Research Assistant, 2018-2021) awarded a second year of support from the NIH/NEI Research Supplement to Promote Diversity in Health-Related Research funding opportunity.
June 2020
  • Arthur Lee, MD, PhD (Postdoctoral Fellow, 2017-2023) awarded the BCH Manton Center for Orphan Disease Research Fellowship.
  • Brandon Pratt (Research Assistant, 2018-2020) matriculated to the Biology and Biomedical Sciences PhD Program at the University of North Carolina Chapel Hill.
  • Thomas Collins (Research Assistant, 2018-2020) matriculated to the MD-PhD Program at the University of North Carolina School of Medicine.
  • Cassia Lee (Undergraduate Student, 2020-2021) received the Summer 2020 Harvard College Research Program Award.
May 2020
  • Sarah Garnai (Medical Student Fellow, 2017-2020) conferred MD with Honors in a Special Field, cum laude.
April 2020
March 2020
  • Genevieve Bern (Undergraduate Student, 2013) accepted to the Mayo Clinic College of Medicine and Science Summer Research Fellowship.
  • Cristina Rivera Quiles (Undergraduate Student, 2018-2019) accepted to the Neuroscience PhD Program at Michigan State University (MSU) and awarded the MSU Distinguished Fellowship and National Science Foundation Graduate Research Fellowship.
October 2019
March 2019
July 2018
  • Sheena Chew, MD (Medical Student Fellow, 2010-2013) selected for the Neurodegenerative Disease Clinical Research Fellowship at Massachusetts General Hospital and Anne B. Young Fellowship in Therapeutic Development at Biogen.

Recent Publications

For a full list of publications, please click here. To request a PDF of a lab publication, email engle.admin@childrens.harvard.edu.

2024

Lee AS*, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Jurgens JA, England EM, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC*. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Nat Commun. 2024 Sep 27;15(1):8268. PMID: 39333082; PMCID: PMC11436875. >

Lecoquierre F*¹, Punt AM¹, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genet Med. 2024 Jun;26(6):101119. PMID: 38465576; PMCID: PMC11257750. >

Liberton DK¹, Almpani K,¹ Mishra R, Bassim C, Van Ryzin C, On Behalf Of The Moebius Syndrome Research Consortium, Webb BD, Jabs EW, Engle EC, Collins FS, Manoli I*, Lee JS*. Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. Int J Environ Res Public Health. 2024 May 13;21(5):615. PMID: 38791829; PMCID: PMC11121611. >

Martinez Sanchez M, Chan WM, MacKinnon SE, Barry B, Hunter DG, Engle EC, Whitman MC*. Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. JAMA Ophthalmol. 2024 Mar 1;142(3):243-247. PMID: 38358749; PMCID: PMC10870223. >

Lee TC, Walker E, Ting MA, Bolar DS, Koning J, Korn BS, Kikkawa DO, Granet D, Robbins SL, Alperin M, Engle EC, Liu CY, Rudell J*. The influence of orbital architecture on strabismus in craniosynostosis. J AAPOS. 2024 Feb;28(1):103812. PMID: 38219920. >

2023

Japee S*, Jordan J, Licht J, Lokey S, Moebius Syndrome Research Consortium, Chen G, Snow J, Jabs EW, Webb BD, Engle EC, Manoli I, Baker C¹, Ungerleider LG¹. Inability to move one’s face dampens facial expression perception. Cortex. 2023 Dec;169:35-49. PMID: 37852041; PMCID: PMC10836030. >

Puri D, Barry BJ, Engle EC*. TUBB3 and KIF21A in neurodevelopment and disease. Front Neurosci. 2023 Aug 4;17:1226181. PMID: 37600020; PMCID: PMC10436312. >

Tenney AP¹, Di Gioia SA¹, Webb BD¹, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC*. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet. 2023 Jul;55(7):1149-1163. PMID: 37386251; PMCID: PMC10335940. >

2022

Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T*, Poduri A*, ClinGen Brain Malformation Variant Curation Expert Panel. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 Nov;24(11):2240-2248. PMID: 35997716; PMCID: PMC9883838. >

Whitman MC, Gilette NM, Bell JL, Kim SA, Tischfield M, Engle EC*. TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Dev Biol. 2022 Oct;490:126-133. PMID: 35944701; PMCID: PMC9765759 >

Kuht HJ, Maconachie G, Han J, Kessel L, Van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth BMedSci V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arvelier B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG*. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study. Ophthalmology. 2022 Jun;129(6):708-718. PMID: 35157951; PMCID: PMC9341240. >

Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O’Donnell-Luria A, Phadke R, Engle EC, Sarkozy A¹*, Muntoni F¹. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Hum Mutat. 2022 Apr;43(4):487-498. PMID: 35077597; PMCID: PMC8960342. >

2021

Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Glad R, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I*, Engle EC*. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Hum Genet. 2021 Dec;140(12):1709-1731. PMID: 34652576; PMCID: PMC8656246. >

Ahangari N, Munoz DG, Coulombe J, Gray DA, Engle EC, Cheng L, Woulfe J*. Nuclear IMPDH Filaments in Human Gliomas. J Neuropathol Exp Neurol. 2021 Oct 26;80(10):944-954. PMID: 34498062; PMCID: PMC8560559. >

Godfrey D*, Torres A, Heidary G, Zahoor H, Lee A, Berry G, Engle EC. A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. Ophthalmic Genet. 2021 Oct;42(5):612-614.PMID: 33949289; PMCID: PMC8903185. >

Whitman MC, Jurgens JA, Hunter DG, Engle EC. Congenital Fibrosis of the Extraocular Muscles Overview. 2004 Apr 27 [updated 2021 Aug 12]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301522. >

Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM; Care4Rare Canada Consortium, O’Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC*. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 May;29(5):816-826. PMID: 33649541; PMCID: PMC8110841. >

Webb BD*, Manoli I, Engle EC, Jabs EW. A framework for the evaluation of patients with congenital facial weakness. Orphanet J Rare Dis. 2021 Apr 7;16(1):158. PMID: 33827624; PMCID: PMC8028830. >

Al-Haddad C*, Boustany RM, Rachid E, Ismail K, Barry B, Chan WM, Engle EC. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. Ophthalmic Genet. 2021 Apr;42(2):195-199. PMID: 33251926; PMCID: PMC7987873. >

Lehky T*, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A, Facio FM, Webb BD, Jabs EW, Barry BS, Engle EC, Collins FS, Manoli I; and the Moebius Syndrome Research Consortium. Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. Muscle Nerve. 2021 Apr;63(4):516-524. PMID: 33389762; PMCID: PMC8353595. >

Thomas MG*, Maconachie GDE, Kuht HJ, Chan WM, Sheth V, Hisaund M, McLean RJ, Barry B, Al-Diri B, Proudlock FA, Tu Z, Engle EC, Gottlob I. Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. Int J Mol Sci. 2021 Mar 4;22(5):2575. PMID: 33806565; PMCID: PMC7961960. >

2020

Whitman MC, Di Gioia SA, Chan W-M, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M, Pato C, Shaaban S, Staffieri S, MacKinnon S, Maconachie GDE, Elder JE, Traboulsi EI, Strabismus Genetics Research Consortium, Gottlob I, Mackey DA, Hunter DG, Engle EC*. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):22. PMID: 32780866; PMCID: PMC7443120. >

Thomas MG¹*, Maconachie GDE¹, Constantinescu CS, Chan W-M, Barry BJ, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I*. Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant. Br J Ophthalmol. 2020 Apr;104(4):547-550. PMID: 31302631; PMCID: PMC6998158. >

Sadeghi N*, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD, Facio F, Brooks BP, Collins FS, Jabs EW, Engle EC, Manoli I, Pierpaoli C. Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun. 2020; 2(1):fcaa014. PMID: 32328577; PMCID: PMC7158234. >

2019

Fujiki R, Lee JY, Jurgens JA, Whitman MC, Engle EC*. Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. J Vis Exp. 2019 Nov 12;(153). PMID: 31789317; PMCID: PMC7036286. >

Tenney AP*, Livet J, Belton T, Prochazkova M, Pearson EM, Whitman MC, Kulkarni AB, Engle EC, Henderson CE. Etv1 controls the establishment of non-overlapping motor innervation of neighboring facial muscles during development. Cell Rep. 2019 Oct 8;29(2):437-452.e4. PMID: 31597102; PMCID: PMC7032945. >

Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan W-M, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC*. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Gen. 2019 Sept 15;28(18):3113-3125. PMID: 31211835; PMCID: PMC6737292. >

Whitman MC*, Bell JL, Nguyen EH, Engle EC. Ex vivo oculomotor slice culture from embryonic GFP-expressing mice for time-lapse imaging of oculomotor nerve outgrowth. J Vis Exp. 2019 Jul 16;(149). PMID: 31380850; PMCID: PMC6771922. >

Patak J*, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross LA, Amudhavalli SM, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Marr B, Cherrick I, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle EC, Hess J, Lebel RR. MAGEL2-Related Disorders: A study and case series Clin Genet. 2019 Dec;96(6):493-505. PMID: 31397880; PMCID: PMC6864226. > 

Frints SGM*, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Hum Mutat. 2019 Dec; 40(12):2270-2285. PMID: 31206972; PMCID: PMC6874899. >

Kruszka P*, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Phenotype delineation of ZNF462 related syndrome. Am J Med Genet A. 2019 Oct; 179(10):2075-2082. PMID: 31361404; PMCID: PMC6935050. >

Grant PE*, Im K, Ahtam B, Laurentys CT, Chan WM, Brainard M, Chew S, Drottar M, Robson CD, Drmic I, Engle EC*. Altered White Matter Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 Jul 22; 29(8):3561-3576. PMID: 30272120; PMCID: PMC6644882. >

An D¹, Fujiki R¹, Iannitelli DE¹, Smerdon JW, Maity S, Rose MF, Gelber A, Wanasalja EK, Yagudayeva I, Lee JY, Vogel C, Wichterle H, Engle EC, Mazzoni EO*. Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. eLife. 2019 Jun 3;8. pii: e44423. PMID: 31157617; PMCID: PMC6594754. >