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Items: 41

1.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Avella AB, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Aug 28. pii: S0002-9297(19)30309-X. doi: 10.1016/j.ajhg.2019.08.006. [Epub ahead of print]

PMID:
31495489
2.

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

Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A.

Mol Genet Genomic Med. 2019 Sep 7:e969. doi: 10.1002/mgg3.969. [Epub ahead of print]

3.

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L.

PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May.

4.

Using human sequencing to guide craniofacial research.

Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW.

Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21.

PMID:
30375152
5.

DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.

Huryn LA, Turriff A, Harney LA, Carr AG, Chevez-Barrios P, Gombos DS, Ram R, Hufnagel RB, Hill DA, Zein WM, Schultz KAP, Bishop R, Stewart DR.

Ophthalmology. 2019 Feb;126(2):296-304. doi: 10.1016/j.ophtha.2018.09.038. Epub 2018 Oct 17.

PMID:
30339877
6.

Genetics in Ophthalmology.

Prasov L, Armenti ST, Utz VM, Richards JE, Hufnagel RB.

J Ophthalmol. 2018 Aug 29;2018:4608946. doi: 10.1155/2018/4608946. eCollection 2018. No abstract available.

7.

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

Bryan JM, Fufa TD, Bharti K, Brooks BP, Hufnagel RB, McGaughey DM.

Hum Mol Genet. 2018 Oct 1;27(19):3325-3339. doi: 10.1093/hmg/ddy239.

PMID:
30239781
8.

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

Sisk RA, Hufnagel RB, Laham A, Wohler ES, Sobreira N, Ahmed ZM.

J Ophthalmol. 2018 Jul 11;2018:2984934. doi: 10.1155/2018/2984934. eCollection 2018.

9.

Case 1: A term infant with apnea and stiffening.

Arroyo MS, Fu TT, Hufnagel RB.

Neoreviews. 2017 Nov;18(11):e665-e667. doi: 10.1542/neo.18-11-e665. No abstract available.

10.

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

Li Z, Peng Y, Hufnagel RB, Hu YC, Zhao C, Queme LF, Khuchua Z, Driver AM, Dong F, Lu QR, Lindquist DM, Jankowski MP, Stottmann RW, Kao WWY, Huang T.

Hum Mol Genet. 2017 Oct 1;26(19):3776-3791. doi: 10.1093/hmg/ddx262.

11.

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

Santoro SL, Atoum D, Hufnagel RB, Motley WW.

SAGE Open Med. 2017 Jun 19;5:2050312117715583. doi: 10.1177/2050312117715583. eCollection 2017.

12.

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Weiss K, Kruszka P, Guillen Sacoto MJ, Addissie YA, Hadley DW, Hadsall CK, Stokes B, Hu P, Roessler E, Solomon B, Wiggs E, Thurm A, Hufnagel RB, Zein WM, Hahn JS, Stashinko E, Levey E, Baldwin D, Clegg NJ, Delgado MR, Muenke M.

Genet Med. 2018 Jan;20(1):14-23. doi: 10.1038/gim.2017.68. Epub 2017 Jun 22.

13.

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT.

Ophthalmology. 2017 Jul;124(7):1004-1013. doi: 10.1016/j.ophtha.2017.02.026. Epub 2017 Mar 31.

14.

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

Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR.

Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.

15.

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

George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP.

Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. Epub 2016 Nov 23.

16.

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.

Gelineau-Morel R, Lukacs M, Weaver KN, Hufnagel RB, Gilbert DL, Stottmann RW.

Genes (Basel). 2016 Oct 14;7(10). pii: E85.

17.

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

Patterson EJ, Wilk M, Langlo CS, Kasilian M, Ring M, Hufnagel RB, Dubis AM, Tee JJ, Kalitzeos A, Gardner JC, Ahmed ZM, Sisk RA, Larsen M, Sjoberg S, Connor TB, Dubra A, Neitz J, Hardcastle AJ, Neitz M, Michaelides M, Carroll J.

Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3853-63. doi: 10.1167/iovs.16-19608.

18.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM.

Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26.

19.

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

Fong KS, Hufnagel RB, Khadka VS, Corley MJ, Maunakea AK, Fogelgren B, Ahmed ZM, Lozanoff S.

Dis Model Mech. 2016 May 1;9(5):585-96. doi: 10.1242/dmm.024109. Epub 2016 Mar 17.

20.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

21.

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

Hufnagel RB, Zimmerman SL, Krueger LA, Bender PL, Ahmed ZM, Saal HM.

Am J Med Genet A. 2016 Feb;170A(2):487-491. doi: 10.1002/ajmg.a.37441. Epub 2015 Nov 18.

PMID:
26581443
22.

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM.

Clin Genet. 2016 Jul;90(1):90-5. doi: 10.1111/cge.12694. Epub 2015 Dec 21.

23.

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

Wasserman H, Hufnagel RB, Miraldi Utz V, Zhang K, Valencia CA, Leslie ND, Crimmins NA.

Pediatr Diabetes. 2016 Nov;17(7):535-539. doi: 10.1111/pedi.12335. Epub 2015 Nov 4.

24.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R.

Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.

25.

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

Yousaf R, Meng Q, Hufnagel RB, Xia Y, Puligilla C, Ahmed ZM, Riazuddin S.

Dis Model Mech. 2015 Dec;8(12):1543-53. doi: 10.1242/dmm.023077. Epub 2015 Oct 23.

26.

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

Prada CE, Hufnagel RB, Hummel TR, Lovell AM, Hopkin RJ, Saal HM, Schorry EK.

J Pediatr. 2015 Oct;167(4):851-856.e1. doi: 10.1016/j.jpeds.2015.07.001. Epub 2015 Jul 29.

PMID:
26233602
27.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

28.

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

Plancher JM, Hufnagel RB, Vagal A, Peariso K, Saal HM, Broderick JP.

Case Rep Neurol. 2015 Jun 2;7(2):142-7. doi: 10.1159/000431309. eCollection 2015 May-Aug.

29.

PNPLA6-Related Disorders.

Synofzik M, Hufnagel RB, Züchner S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2014 Oct 9 [updated 2015 Jun 11].

30.

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

Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM.

Am J Hum Genet. 2015 May 7;96(5):765-74. doi: 10.1016/j.ajhg.2015.03.011. Epub 2015 Apr 23.

31.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.

Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12.

32.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM.

J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.

PMID:
25480986
33.

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

McLaughlin BM, Hufnagel RB, Saal HM.

Clin Dysmorphol. 2015 Apr;24(2):65-7. doi: 10.1097/MCD.0000000000000063. No abstract available.

PMID:
25415058
34.

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

Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ.

Am J Med Genet A. 2014 Oct;164A(10):2607-12. doi: 10.1002/ajmg.a.36688. Epub 2014 Aug 4.

PMID:
25091507
35.

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

Sisk RA, Hufnagel RB, Bandi S, Polzin WJ, Ahmed ZM.

Ophthalmology. 2014 Jun;121(6):1312-3. doi: 10.1016/j.ophtha.2014.01.001. Epub 2014 Feb 14. No abstract available.

PMID:
24529712
36.

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG.

Hum Gene Ther. 2013 Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30.

37.

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

Hufnagel RB, Riesenberg AN, Quinn M, Brzezinski JA 4th, Glaser T, Brown NL.

Mol Cell Neurosci. 2013 May;54:108-20. doi: 10.1016/j.mcn.2013.02.004. Epub 2013 Feb 26.

38.

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

Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA.

Graefes Arch Clin Exp Ophthalmol. 2012 Aug;250(8):1117-28. doi: 10.1007/s00417-012-2028-2. Epub 2012 May 29. Review.

PMID:
22644094
39.

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

Hufnagel RB, Le TT, Riesenberg AL, Brown NL.

Dev Biol. 2010 Apr 15;340(2):490-503. doi: 10.1016/j.ydbio.2010.02.002. Epub 2010 Feb 6.

40.

Math5 expression and function in the central auditory system.

Saul SM, Brzezinski JA 4th, Altschuler RA, Shore SE, Rudolph DD, Kabara LL, Halsey KE, Hufnagel RB, Zhou J, Dolan DF, Glaser T.

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

41.

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

Hufnagel RB, Riesenberg AN, Saul SM, Brown NL.

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

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