Jennifer E. Neil - Publications, H-index & Citations

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Jennifer E. Neil

Howard Hughes Medical Institute and Boston Children’s Hospital

11H-index

34Paper Count

515Citation Count

Published Papers 13

Publication Date

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology

IF7.7

2026-02-11

OAAI

Abbe Lai CGC; Jennifer E. Neil CGC; Shyam K. Akula MD, PhD; Dina Amrom MD; Eva Andermann MD, PhD; Ann Bergin MD, ScM, MRCP; Roberto Caraballo MD; Allen Y. Chen MD, PhD; John Gaitanis MD; Ganeshwaran H. Mochida MD, MMSc, PhD; Jill M. Gotoff MD; Giorgi Kuchukhidze MD, PhD; Daphna Marom MD; Christelle Moufawad ElAchkar MD; Miriam Regev MD, MBBS; Lance H. Rodan MD; Heather Olson MD; Bo Zhang PhD; Annapurna Poduri MPH, MD; Diane D. Shao MD, PhD; Christopher A. Walsh MD, PhD; Edward Yang MD, PhD

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De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

European Journal of Human Genetics

IF4.6

2026-01-28

OAAI

Céline Jost; Tiffany Busa; Daniel Wegner; Marwan Shinawi; Elise Schaefer; Amélie Piton; Caroline Schluth-Bolard; Perrine Charles; Boris Keren; Katharina Mayerhanser; Theresa Brunet; Ulrich Schatz; Jennifer E. Neil; Christopher A. Walsh; Kathleen Sisco; Alexander J. Paul; Chung Lee; Natalie Dykzeul; Devon Bonner; Jonathan A. Bernstein; Erin Sutcliffe; Ingrid M. Wentzensen; Catherine Froehlich; Kaleigh Liebler; Patricia Galvin Parton; Jody Weiss-Burns; Chloé Sagnol; Julian Delanne; Caroline Racine; Christel Thauvin-Robinet; Hana Safraou; Frédéric Tran Mau-Them; Yannis Duffourd; Ange-Line Bruel; Laurence Faivre

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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects

Brain

IF11.7

2025-10-07

PREAI

Saikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmüller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Simon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino

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Spatial transcriptomics reveals human cortical layer and area specification

NATURE

IF48.5

2025-05-14

OAAI

Qian, Xuyu; Coleman, Kyle; Jiang, Shunzhou; Kriz, Andrea J.; Marciano, Jack H.; Luo, Chunyu; Cai, Chunhui; Manam, Monica Devi; Caglayan, Emre; Lai, Abbe; Exposito-Alonso, David; Otani, Aoi; Ghosh, Urmi; Shao, Diane D.; Andersen, Rebecca E.; Neil, Jennifer E.; Johnson, Robert; LeFevre, Alexandra; Hecht, Jonathan L.; Micali, Nicola; Sestan, Nenad; Rakic, Pasko; Miller, Michael B.; Sun, Liang; Stringer, Carsen; Li, Mingyao; Walsh, Christopher A.

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<i>ADAT3</i> variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

Brain

IF11.7

2025-03-22

OAAI

Jordi Del-Pozo-Rodriguez; Peggy Tilly; Romain Lecat; Hugo Rolando Vaca; Laureline Mosser; Elena Brivio; Till Balla; Marina Vitoria Gomes; Elizabeth Ramos-Morales; Noémie Schwaller; Thalia Salinas-Giegé; Grace VanNoy; Eleina M England; Alysia Kern Lovgren; Melanie O’Leary; Maya Chopra; Naomi Meave Ojeda; Mehran Beiraghi Toosi; Atieh Eslahi; Masoome Alerasool; Majid Mojarrad; Lynn S Pais; Rebecca C Yeh; Dustin L Gable; Mais O Hashem; Firdous Abdulwahab; Muath Rakiz Alqurashi; Loai Z Sbeih; Omar Abu Adas Blanco; Renad Abu Khater; Gabriela Oprea; Aboulfazl Rad; Hamad Alzaidan; Hesham Aldhalaan; Ehab Tous; Afaf Alsagheir; Mohammed Alowain; Abdullah Tamim; Khowlah Alfayez; Amal Alhashem; Aisha Alnuzha; Mona Kamel; Bashayer S Al-Awam; Walaa Elnaggar; Nihal Almenabawy; Anne O'Donnell-Luria; Jennifer E Neil; Joseph G Gleeson; Christopher A Walsh; Fowzan S Alkuraya; Lama AlAbdi; Nour Elkhateeb; Laila Selim; Siddharth Srivastava; Danny D Nedialkova; Laurence Drouard; Christophe Romier; Efil Bayam; Juliette D Godin

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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-05-01

OAAI

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-05-01

OAAI

Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Hubshman, Monika Weisz; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; De Luque, Jorge Luis Granadillo; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A.; Prabhakar, Prab; Gosswein, Sophie; Di Donato, Nataliya; Bertini, Enrico S.; Wangler, Michael F.; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W.; Bellen, Hugo J.

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TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2023-01-20

OAAI

Akula, Shyam K.; Marciano, Jack H.; Lim, Youngshin; Exposito-Alonso, David; Hylton, Norma K.; Hwang, Grace H.; Neil, Jennifer E.; Dominado, Nicole; Bunton-Stasyshyn, Rosie K.; Song, Janet H. T.; Talukdar, Maya; Schmid, Aloisia; Teboul, Lydia; Mo, Alisa; Shin, Taehwan; Finander, Benjamin; Beck, Samantha G.; Yeh, Rebecca C.; Otani, Aoi; Qian, Xuyu; DeGennaro, Ellen M.; Alkuraya, Fowzan S.; Maddirevula, Sateesh; Cascino, Gregory D.; Giannini, Caterina; Undiagnosed Diseases Network, Lindsay C.; Burrage, Lindsay C.; Rosenfield, Jill A.; Ketkar, Shamika; Clark, Gary D.; Bacino, Carlos; Lewis, Richard A.; Segal, Rosalind A.; Bazan, J. Fernando; Smith, Kelly A.; Golden, Jeffrey A.; Cho, Ginam; Walsh, Christopher A.

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ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2022-07-24

OAAI

Thomas, Ajay X.; Link, Nichole; Robak, Laurie A.; Demmler-Harrison, Gail; Pao, Emily C.; Squire, Audrey E.; Michels, Savannah; Cohen, Julie S.; Comi, Anne; Prontera, Paolo; di Pianella, Alberto Verrotti; Di Cara, Giuseppe; Garavelli, Livia; Caraffi, Stefano Giuseppe; Fusco, Carlo; Zuntini, Roberta; Parks, Kendall C.; Sherr, Elliott H.; Hashem, Mais O.; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Contractar, Isphana A. F.; Neil, Jennifer E.; Walsh, Christopher A.; Bellen, Hugo J.; Chao, Hsiao-Tuan; Clark, Robin D.; Mirzaa, Ghayda M.

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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

GENETICS IN MEDICINE

IF6.2

2022-02-01

OAAI

Qi, Cai; Feng, Irena; Costa, Ana Rita; Pinto-Costa, Rita; Neil, Jennifer E.; Caluseriu, Oana; Li, Dong; Ganetzky, Rebecca D.; Brasch-Andersen, Charlotte; Fagerberg, Christina; Hansen, Lars Kjaersgaard; Bupp, Caleb; Muraresku, Colleen Clarke; Ruan, Xiangbin; Kang, Bowei; Hu, Kaining; Zhong, Rong; Brites, Pedro; Bhoj, Elizabeth J.; Hill, Robert Sean; Falk, Marni J.; Hakonarson, Hakon; Kahle, Kristopher T.; Sousa, Monica M.; Walsh, Christopher A.; Zhang, Xiaochang

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-08-20

OAAI

Haag, Natja; Tan, Ene-Choo; Begemann, Matthias; Buschmann, Lars; Kraft, Florian; Holschbach, Petra; Lai, Angeline H. M.; Brett, Maggie; Mochida, Ganeshwaran H.; Di Troia, Stephanie; Pais, Lynn; Neil, Jennifer E.; Al-Saffar, Muna; Bastaki, Laila; Walsh, Christopher A.; Kurth, Ingo; Knopp, Cordula

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Early role for a Na+,K+-ATPase (ATP1A3) in brain development

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2021-06-14

OAAI

Smith, Richard S.; Florio, Marta; Akula, Shyam K.; Neil, Jennifer E.; Wang, Yidi; Hill, R. Sean; Goldman, Melissa; Mullally, Christopher D.; Reed, Nora; Bello-Espinosa, Luis; Flores-Sarnat, Laura; Monteiro, Fabiola Paoli; Erasmo, Casella B.; Pinto, Filippo; Morava, Eva; Barkovich, A. James; Gonzalez-Heydrich, Joseph; Brownstein, Catherine A.; McCarroll, Steven A.; Walsh, Christopher A.

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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

GENETICS IN MEDICINE

IF6.2

2021-06-01

OAAI

Shao, Diane D.; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R. Sean; Smith, Richard S.; Majmundar, Amar J.; Ameziane, Najim; Neil, Jennifer E.; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S.; Schlaeger, Thorsten M.; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z.; Rento, Lariza M.; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A. James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A.

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Research Directions