Robert B Hufnagel

ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 17

Top Venues

American journal of medical genetics. Part C, Seminars in medical genetics

Genes

Human mutation

Science advances

Cincinnati Children's Hospital Medical Center

University of Cincinnati College of Medicine (PHD)

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

Affiliation History

Cincinnati Children's Hospital Medical Center

United States

House Staff, Research Fellow :: Human Genetics

Education History

University of Cincinnati College of Medicine

United States

PHD :: Medicine, Neuroscience

Publications

Karen E Lee, Jose S Pulido, Mariana Matioli da Palma, Rebecca Procopio, Robert B Hufnagel, Margaret Reynolds
A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes 14 (8) (2023)
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon Akanzuwine Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura Anne Goodell Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Regie Lyn P Santos-Cortez, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert B Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical genetics (2023)
Mariya R Ahmed, Saumil Sethna, Laura A Krueger, Michael B Yang, Robert B Hufnagel
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1. Genes 13 (3) (2022)
Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, Lev Prasov, Wadih M Zein, Catherine A Cukras, Sharon Osgood, Neelam Raja, Mark D Levin, Susan Vitale, Brian P Brooks, Robert B Hufnagel, Beth A Kozel
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. The British journal of ophthalmology (2022)
Volha V Malechka, Catherine A Cukras, Emily Y Chew, Yuri V Sergeev, Delphine Blain, Brett G Jeffrey, Ehsan Ullah, Robert B Hufnagel, Brian P Brooks, Laryssa A Huryn, Wadih M Zein
Clinical Phenotypes of CDHR1 -Associated Retinal Dystrophies. Genes 13 (5) (2022)
Robert B Hufnagel, Wendi Liang, Jacque L Duncan, Carmen C Brewer, Isabelle Audo, Allison R Ayala, Kari Branham, Janet K Cheetham, Stephen P Daiger, Todd A Durham, Bin Guan, Elise Heon, Carel B Hoyng, Alessandro Iannaccone, Christine N Kay, Michel Michaelides, Mark E Pennesi, Mandeep S Singh, Ehsan Ullah, null null
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Human mutation 43 (5) (2022)
Chelsea Bender, Elizabeth Geena Woo, Bin Guan, Ehsan Ullah, Eric Feng, Amy Turriff, Santa J Tumminia, Paul A Sieving, Catherine A Cukras, Robert B Hufnagel
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes 13 (4) (2022)
Rhonda E Schnur, Sairah Yousaf, James Liu, Wendy K Chung, Lindsay Rhodes, Michael Marble, Regina M Zambrano, Nara Sobreira, Parul Jayakar, Mary Ella Pierpont, Matthew J Schultz, Pavel N Pichurin, Rory J Olson, Gail E Graham, Matthew Osmond, Gustavo A Contreras-García, Karina A Campo-Neira, Camilo A Peñaloza-Mantilla, Mark Flage, Srikar Kuppa, Karina Navarro, Maria J Guillen Sacoto, Ingrid M Wentzensen, Maria I Scarano, Jane Juusola, Carlos E Prada, Robert B Hufnagel
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genetics in medicine : official journal of the American College of Medical Genetics 23 (9) (2021)
Rafael Mena, Esperanza Mendoza, Maria Gomez Peña, C Alexander Valencia, Ehsan Ullah, Robert B Hufnagel, Carlos E Prada
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)
Malena Daich Varela, Rene Moya, Patricio G Schlottmann, Robert B Hufnagel, Claudia Arberas, Federico M Fernández, M Eugenia Inga, Juliana Lores, Harry Pachajoa, Carlos E Prada, Juliana M Ferraz Sallum
Ophthalmic genetics in South America. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Robert B Hufnagel, Michael A Walter, Gavin Arno
Introduction to the special issue on Ophthalmic Genetics: Vision in 2020. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Virginia Miraldi Utz, Diana S Brightman, Monica A Sandoval, Robert B Hufnagel, Howard M Saal
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Kerry E Goetz, Melissa J Reeves, Shaina Gagadam, Delphine Blain, Chelsea Bender, Cara Lwin, Amelia Naik, Santa J Tumminia, Robert B Hufnagel
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Michael A Walter, Tayebeh Rezaie, Robert B Hufnagel, Gavin Arno
Ocular genetics in the genomics age. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P A Stegmann, Carlos E Prada, Robert J Hopkin, Joseph T Shieh, Kirsty McWalter, Kristin G Monaghan, Peter M van Hasselt, Koen van Gassen, Ting Bai, Min Long, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A Scott, Seema R Lalani, Mahshid S Azamian, Grazia M S Mancini, Darius J Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa A Osei-Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gecz, Eric A Haan, Judith Ranells, Melissa Racobaldo, Magnus Nordenskjold, Suneeta Madan-Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill Anne Rosenfeld, Bert B A de Vries, Raphael A Bernier, Zhi-Qing David Xu, Honghui Li, Wei Xie, Robert B Hufnagel, Evan E Eichler, Kun Xia
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances 5 (9) (2019)
Vijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li, James W Thomas, Yuri V Sergeev, Delphine Blain, Robert B Hufnagel, Tiziana Cogliati, Brian P Brooks
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma. Human mutation 41 (3) (2019)
Keith S K Fong, Robert B Hufnagel, Vedbar S Khadka, Michael J Corley, Alika K Maunakea, Ben Fogelgren, Zubair M Ahmed, Scott Lozanoff
A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. Disease models & mechanisms 9 (5) (2016)

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Publication Activity (10 Years)

Top Topics

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Robert B Hufnagel