Robert Hill - Publications, H-index & Citations

Robert Hill

Johns Hopkins University

61H指数

227论文数

3.0W被引数

收录论文 41

发表时间

Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis

DEVELOPMENTAL CELL

IF8.7

2022-10-01

OAAI

Qian, Xuyu; DeGennaro, Ellen M.; Talukdar, Maya; Akula, Shyam K.; Lai, Abbe; Shao, Diane D.; Gonzalez, Dilenny; Marciano, Jack H.; Smith, Richard S.; Hylton, Norma K.; Yang, Edward; Bazan, J. Fernando; Barrett, Lee; Yeh, Rebecca C.; Hill, R. Sean; Beck, Samantha G.; Otani, Aoi; Angad, Jolly; Mitani, Tadahiro; Posey, Jennifer E.; Pehlivan, Davut; Calame, Daniel; Aydin, Hatip; Yesilbas, Osman; Parks, Kendall C.; Argilli, Emanuela; England, Eleina; Im, Kiho; Taranath, Ajay; Scott, Hamish S.; Barnett, Christopher P.; Arts, Peer; Sherr, Elliott H.; Lupski, James R.; Walsh, Christopher A.

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

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.

The theoretical optimization of the arrangement of sandwich filling components

TRIBOLOGY INTERNATIONAL

IF6.9

2021-01-01

OAAI

Davison, Sam; Hill, Robert; Taghizadeh, Saeid; Lewis, Roger

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

GENETICS IN MEDICINE

IF6.2

2020-06-01

OAAI

Coulter, Michael E.; Musaev, Damir; DeGennaro, Ellen M.; Zhang, Xiaochang; Henke, Katrin; James, Kiely N.; Smith, Richard S.; Hill, R. Sean; Partlow, Jennifer N.; Muna Al-Saffar; Kamumbu, A. Stacy; Hatem, Nicole; Barkovich, A. James; Aziza, Jacqueline; Chassaing, Nicolas; Zaki, Maha S.; Sultan, Tipu; Burglen, Lydie; Rajab, Anna; Al-Gazali, Lihadh; Mochida, Ganeshwaran H.; Harris, Matthew P.; Gleeson, Joseph G.; Walsh, Christopher A.

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

NEURON

IF15

2020-04-01

OAAI

Kodani, Andrew; Kenny, Connor; Lai, Abbe; Gonzalez, Dilenny M.; Stronge, Edward; Sejourne, Gabrielle M.; Isacco, Laura; Partlow, Jennifer N.; O'Donnell, Anne; McWalter, Kirsty; Byrne, Alicia B.; Barkovich, A. James; Yang, Edward; Hill, R. Sean; Gawlinski, Pawel; Wiszniewski, Wojciech; Cohen, Julie S.; Fatemi, S. Ali; Baranano, Kristin W.; Sahin, Mustafa; Vossler, David G.; Yuskaitis, Christopher J.; Walsh, Christopher A.

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

NEURON

IF15

2018-09-01

117

OAAI

Smith, Richard S.; Kenny, Connor J.; Ganesh, Vijay; Jang, Ahram; Borges-Monroy, Rebeca; Partlow, Jennifer N.; Hill, R. Sean; Shin, Taehwan; Chen, Allen Y.; Doan, Ryan N.; Anttonen, Anna-Kaisa; Ignatius, Jaakko; Medne, Livija; Bonnemann, Carsten G.; Hecht, Jonathan L.; Salonen, Oili; Barkovich, A. James; Poduri, Annapurna; Wilke, Martina; de Wit, Marie Claire Y.; Mancini, Grazia M. S.; Sztriha, Laszlo; Im, Kiho; Amrom, Dina; Andermann, Eva; Paetau, Ritva; Lehesjoki, Anna-Elina; Walsh, Christopher A.; Lehtinen, Maria K.

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy 丙氨酰-tRNA合成酶的活性不足是进行性小头畸形，髓鞘过少和癫痫性脑病的常染色体隐性综合征的基础

HUMAN MUTATION

IF3.7

2017-06-23

OAAI

Nakayama, Tojo; Wu, Jiang; Galvin-Parton, Patricia; Weiss, Jody; Andriola, Mary R.; Hill, R. Sean; Vaughan, Dylan J.; El-Quessny, Malak; Barry, Brenda J.; Partlow, Jennifer N.; Barkovich, A. James; Ling, Jiqiang; Mochida, Ganeshwaran H.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

GENOME RESEARCH

IF5.5

2017-06-19

OAAI

Evrony, Gilad D.; Cordero, Dwight R.; Shen, Jun; Partlow, Jennifer N.; Yu, Timothy W.; Rodin, Rachel E.; Hill, R. Sean; Coulter, Michael E.; Lam, Anh-Thu N.; Jayaraman, Divya; Gerrelli, Dianne; Diaz, Diana G.; Santos, Chloe; Morrison, Victoria; Galli, Antonella; Tschulena, Ulrich; Wiemann, Stefan; Marte, M. Jocelyne; Spooner, Betty; Ryu, Steven C.; Elhosary, Princess C.; Richardson, Jillian M.; Tierney, Danielle; Robinson, Christopher A.; Chibbar, Rajni; Diudea, Dana; Folkerth, Rebecca; Wiebe, Sheldon; Barkovich, A. James; Mochida, Ganeshwaran H.; Irvine, James; Lemire, Edmond G.; Blakley, Patricia; Walsh, Christopher A.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-03-01

OAAI

Osborn, Daniel P. S.; Pond, Heather L.; Mazaheri, Neda; Dejardin, Jeremy; Munn, Christopher J.; Mushref, Khaloob; Cauley, Edmund S.; Moroni, Isabella; Pasanisi, Maria Barbara; Sellars, Elizabeth A.; Hill, R. Sean; Partlow, Jennifer N.; Willaert, Rebecca K.; Bharj, Jaipreet; Malamiri, Reza Azizi; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza; Mora, Marina; Swan, Laura E.; Voit, Thomas; Conti, Francesco J.; Jamshidi, Yalda; Manzini, M. Chiara

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

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

IF9.1

2016-09-06

OAAI

Ouyang, Qing; Nakayama, Tojo; Baytas, Ozan; Davidson, Shawn M.; Yang, Chendong; Schmidt, Michael; Lizarraga, Sofia B.; Mishra, Sasmita; EI-Quessny, Malak; Niaz, Saima; Butt, Mirrat Gul; Murtaza, Syed Imran; Javed, Afzal; Chaudhry, Haroon Rashid; Vaughan, Dylan J.; Hill, R. Sean; Partlow, Jennifer N.; Yoo, Seung-Yun; Lam, Anh-Thu N.; Nasir, Ramzi; Al-Saffar, Muna; Barkovich, A. James; Schwede, Matthew; Nagpal, Shailender; Rajab, Anna; DeBerardinis, Ralph J.; Housman, David E.; Mochida, Ganeshwaran H.; Morrow, Eric M.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-05-01

OAAI

Nakayama, Tojo; Al-Maawali, Almundher; El-Quessny, Malak; Rajab, Anna; Khalil, Samir; Stoler, Joan M.; Tan, Wen-Hann; Nasir, Ramzi; Schmitz-Abe, Klaus; Hill, R. Sean; Partlow, Jennifer N.; Al-Saffar, Muna; Servattalab, Sarah; LaCoursiere, Christopher M.; Tambunan, Dimira E.; Coulter, Michael E.; Elhosary, Princess C.; Gorski, Grzegorz; Barkovich, A. James; Markianos, Kyriacos; Poduri, Annapurna; Mochida, Ganeshwaran H.

Loss of PCLO function underlies pontocerebellar hypoplasia type III

NEUROLOGY

IF8.5

2015-04-28

OAAI

Ahmed, Mustafa Y.; Chioza, Barry A.; Rajab, Anna; Schmitz-Abe, Klaus; Al-Khayat, Aisha; Al-Turki, Saeed; Baple, Emma L.; Patton, Michael A.; Al-Memar, Ali Y.; Hurles, Matthew E.; Partlow, Jennifer N.; Hill, R. Sean; Evrony, Gilad D.; Servattalab, Sarah; Markianos, Kyriacos; Walsh, Christopher A.; Crosby, Andrew H.; Mochida, Ganeshwaran H.

Somatic Mutations in Cerebral Cortical Malformations

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2014-08-21

283

OAAI

Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A.

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

CELL REPORTS

IF6.9

2014-08-01

OAAI

Manzini, M. Chiara; Xiong, Lan; Shaheen, Ranad; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Ghaziuddin, Mohammed; Christian, Mehtab; Jiang, Qin; Laurent, Sandra; Nanjiani, Zohair A.; Rasheed, Saima; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Salih, Mustafa A.; Alkuraya, Fowzan S.; Walsh, Christopher A.

SLC25A22 Is a Novel Gene for Migrating Partial Seizures in Infancy

ANNALS OF NEUROLOGY

IF7.7

2013-10-17

OAAI

Poduri, Annapurna; Heinzen, Erin L.; Chitsazzadeh, Vida; Lasorsa, Francesco Massimo; Elhosary, P. Christina; LaCoursiere, Christopher M.; Martin, Emilie; Yuskaitis, Christopher J.; Hill, Robert Sean; Atabay, Kutay Deniz; Barry, Brenda; Partlow, Jennifer N.; Bashiri, Fahad A.; Zeidan, Radwan M.; Elmalik, Salah A.; Kabiraj, Mohammad M. U.; Kothare, Sanjeev; Stodberg, Tommy; McTague, Amy; Kurian, Manju A.; Scheffer, Ingrid E.; Barkovich, A. James; Palmieri, Ferdinando; Salih, Mustafa A.; Walsh, Christopher A.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

NEUROLOGY

IF8.5

2013-10-15

OAAI

Hills, L. Benjamin; Masri, Amira; Konno, Kotaro; Kakegawa, Wataru; Lam, Anh-Thu N.; Lim-Melia, Elizabeth; Chandy, Nandini; Hill, R. Sean; Partlow, Jennifer N.; Al-Saffar, Muna; Nasir, Ramzi; Stoler, Joan M.; Barkovich, A. James; Watanabe, Masahiko; Yuzaki, Michisuke; Mochida, Ganeshwaran H.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

NATURE GENETICS

IF31.8

2012-09-30

OAAI

Mochida, Ganeshwaran H.; Ganesh, Vijay S.; de Michelena, Maria I.; Dias, Hugo; Atabay, Kutay D.; Kathrein, Katie L.; Huang, Hsuan-Ting; Hill, R. Sean; Felie, Jillian M.; Rakiec, Daniel; Gleason, Danielle; Hill, Anthony D.; Malik, Athar N.; Barry, Brenda J.; Partlow, Jennifer N.; Tan, Wen-Hann; Glader, Laurie J.; Barkovich, A. James; Dobyns, William B.; Zon, Leonard I.; Walsh, Christopher A.

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

PLOS GENETICS

IF3.7

2012-04-12

169

OAAI

Chahrour, Maria H.; Yu, Timothy W.; Lim, Elaine T.; Ataman, Bulent; Coulter, Michael E.; Hill, R. Sean; Stevens, Christine R.; Schubert, Christian R.; Greenberg, Michael E.; Gabriel, Stacey B.; Walsh, Christopher A.

SEVEN-YEAR WILKINSON MICROWAVE ANISOTROPY PROBE (WMAP) OBSERVATIONS: ARE THERE COSMIC MICROWAVE BACKGROUND ANOMALIES?

ASTROPHYSICAL JOURNAL SUPPLEMENT SERIES

IF8.5

2011-01-11

468

OAAI

Bennett, C. L.; Hill, R. S.; Hinshaw, G.; Larson, D.; Smith, K. M.; Dunkley, J.; Gold, B.; Halpern, M.; Jarosik, N.; Kogut, A.; Komatsu, E.; Limon, M.; Meyer, S. S.; Nolta, M. R.; Odegard, N.; Page, L.; Spergel, D. N.; Tucker, G. S.; Weiland, J. L.; Wollack, E.; Wright, E. L.

研究方向