Robert B Hufnagel

Robert B Hufnagel

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Robert B Hufnagel

Robert B Hufnagel

Publications by authors named "Robert B Hufnagel"

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41Publications

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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Mol Genet Genomic Med 2019 Sep 7:e969. Epub 2019 Sep 7.

Division of Endocrinology, Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/mgg3.969DOI Listing
September 2019

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 Sep 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Using human sequencing to guide craniofacial research.

Genesis 2019 01 21;57(1):e23259. Epub 2018 Dec 21.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, 45229.

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http://doi.wiley.com/10.1002/dvg.23259
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http://dx.doi.org/10.1002/dvg.23259DOI Listing
January 2019

Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks.

Hum Mol Genet 2018 10;27(19):3325-3339

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddy239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140774PMC
October 2018

Genetics in Ophthalmology.

J Ophthalmol 2018 29;2018:4608946. Epub 2018 Aug 29.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1155/2018/4608946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136519PMC
August 2018

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis.

J Ophthalmol 2018 11;2018:2984934. Epub 2018 Jul 11.

Department of Otorhinolaryngology, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1155/2018/2984934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079493PMC
July 2018

Case 1: A term infant with apnea and stiffening.

Neoreviews 2017 Nov;18(11):e665-e667

Division of Human Genetics, Cincinnati Children's Hospital Medical Center.

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http://dx.doi.org/10.1542/neo.18-11-e665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708563PMC
November 2017

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Ophthalmology 2017 07 31;124(7):1004-1013. Epub 2017 Mar 31.

Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, London, United Kingdom; Ophthalmology Department, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1016/j.ophtha.2017.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503697PMC
July 2017

Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts.

SAGE Open Med 2017 19;5:2050312117715583. Epub 2017 Jun 19.

Division of Ophthalmology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/2050312117715583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480628PMC
June 2017

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395203PMC
April 2017

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

Am J Hum Genet 2016 Dec 23;99(6):1388-1394. Epub 2016 Nov 23.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA; Children's National Medical Center, Washington, DC 20010, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297163048
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http://dx.doi.org/10.1016/j.ajhg.2016.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142105PMC
December 2016

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.

Pediatr Diabetes 2016 11 4;17(7):535-539. Epub 2015 Nov 4.

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1111/pedi.12335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854816PMC
November 2016

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.

Genes (Basel) 2016 Oct 14;7(10). Epub 2016 Oct 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.3390/genes7100085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083924PMC
October 2016

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.

Invest Ophthalmol Vis Sci 2016 07;57(8):3853-63

Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 9Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 10Department of Cell Biology, Neurobiology, & Anatomy, Medical Coll.

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http://dx.doi.org/10.1167/iovs.16-19608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968428PMC
July 2016

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.

Dis Model Mech 2016 05 17;9(5):585-96. Epub 2016 Mar 17.

Department of Anatomy, Biochemistry, and Physiology, John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI 96813, USA.

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http://dmm.biologists.org/lookup/doi/10.1242/dmm.024109
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http://dx.doi.org/10.1242/dmm.024109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892663PMC
May 2016

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

Am J Med Genet A 2016 Feb 18;170A(2):487-491. Epub 2015 Nov 18.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.37441DOI Listing
February 2016

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells.

Dis Model Mech 2015 Dec 23;8(12):1543-53. Epub 2015 Oct 23.

Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA

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http://dmm.biologists.org/cgi/doi/10.1242/dmm.023077
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http://dx.doi.org/10.1242/dmm.023077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728323PMC
December 2015

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.

Case Rep Neurol 2015 May-Aug;7(2):142-7. Epub 2015 Jun 2.

Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Comprehensive Stroke Center at UC Neuroscience Institute, Ohio, USA.

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http://dx.doi.org/10.1159/000431309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478326PMC
October 2015

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

J Pediatr 2015 Oct 29;167(4):851-856.e1. Epub 2015 Jul 29.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2015.07.001DOI Listing
October 2015

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Am J Hum Genet 2015 May 23;96(5):765-74. Epub 2015 Apr 23.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570288PMC
May 2015

Small bowel malrotation in distal 15q duplication: evidence for a rare association.

Clin Dysmorphol 2015 Apr;24(2):65-7

aGenetic Counseling Program, University of Cincinnati College of Medicine bDepartment of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000063DOI Listing
April 2015

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Am J Med Genet A 2014 Oct 4;164A(10):2607-12. Epub 2014 Aug 4.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.36688DOI Listing
October 2014

Planned preterm delivery and treatment of retinal neovascularization in Norrie disease.

Ophthalmology 2014 Jun 14;121(6):1312-3. Epub 2014 Feb 14.

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; University of Cincinnati College of Medicine, Department of Ophthalmology, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.ophtha.2014.01.001DOI Listing
June 2014

Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exit.

Mol Cell Neurosci 2013 May 26;54:108-20. Epub 2013 Feb 26.

Division of Developmental Biology, Cincinnati Children's Hospital Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S104474311300022
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http://dx.doi.org/10.1016/j.mcn.2013.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3622171PMC
May 2013

Gene therapy for Leber congenital amaurosis: advances and future directions.

Graefes Arch Clin Exp Ophthalmol 2012 Aug 29;250(8):1117-28. Epub 2012 May 29.

Department of Pediatrics, Division of Pediatric Ophthalmology, University of Cincinnati and Cincinnati Children's Hospital, College of Medicine, 3333 Burnet Ave, ML 7003, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1007/s00417-012-2028-2DOI Listing
August 2012

Neurog2 controls the leading edge of neurogenesis in the mammalian retina.

Dev Biol 2010 Apr 6;340(2):490-503. Epub 2010 Feb 6.

Departments of Pediatrics and Ophthalmology, Division of Developmental Biology, Cincinnati Children's Research Foundation, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ydbio.2010.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854206PMC
April 2010

Math5 expression and function in the central auditory system.

Mol Cell Neurosci 2008 Jan 20;37(1):153-69. Epub 2007 Sep 20.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.mcn.2007.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2266824PMC
January 2008

Conserved regulation of Math5 and Math1 revealed by Math5-GFP transgenes.

Mol Cell Neurosci 2007 Dec 15;36(4):435-48. Epub 2007 Aug 15.

Division of Developmental Biology, Cincinnati Children's Hospital Research Foundation, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.mcn.2007.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2095782PMC
December 2007