Robert B Hufnagel
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Explore the profile of Robert B Hufnagel including associated specialties, affiliations and a list of published articles.
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129
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1432
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Recent Articles
11.
Deignan J, Aggarwal V, Bale A, Bellissimo D, Booker J, Cao Y, et al.
Genet Med Open
. 2024 Aug;
2.
PMID: 39175871
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and...
12.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, et al.
Brain
. 2024 May;
147(6):2085-2097.
PMID: 38735647
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE),...
13.
Kunisetty B, Martin-Giacalone B, Zhao X, Luna P, Brooks B, Hufnagel R, et al.
Invest Ophthalmol Vis Sci
. 2024 Mar;
65(3):25.
PMID: 38502138
Purpose: A molecular diagnosis is only made in a subset of individuals with nonisolated microphthalmia, anophthalmia, and coloboma (MAC). This may be due to underutilization of clinical (whole) exome sequencing...
14.
S Dimopoulos I, Huryn L, Hufnagel R, Ullah E, Agather A, Blain D, et al.
Retina
. 2024 Mar;
44(7):1260-1267.
PMID: 38478753
Purpose: To describe a novel optical coherence tomography (OCT) finding of outer retina microcavitations in RP1 -related retinopathy and other retinal degenerations. Methods: Medical charts and OCT images of 28...
15.
Adeghate J, Sherman J, Bass S, Liu J, Hufnagel R, Yannuzzi L
Retin Cases Brief Rep
. 2024 Mar;
PMID: 38447053
To describe chorioretinal changes in a single case of Boucher-Neuhauser Syndrome (BNHS) over 45 years of follow-up. Methods: Retrospective chart review was performed. Color fundus photography from 1977 to 2003...
16.
Guan B, Bender C, Pantrangi M, Moore N, Reeves M, Naik A, et al.
medRxiv
. 2023 Dec;
PMID: 38076877
Splice variants are known to cause diseases by utilizing alternative splice sites, potentially resulting in protein truncation or mRNA degradation by nonsense-mediated decay. Splice variants are verified when altered mature...
17.
Rasys A, Wegerski A, Trainor P, Hufnagel R, Menke D, Lauderdale J
Bioessays
. 2023 Dec;
46(1):e2300054.
PMID: 38037292
The human fovea is known for its distinctive pit-like appearance, which results from the displacement of retinal layers superficial to the photoreceptors cells. The photoreceptors are found at high density...
18.
Serbinski C, Vanderwal A, Chadwell S, Sanchez A, Hopkin R, Hufnagel R, et al.
Am J Med Genet A
. 2023 Sep;
194(2):195-202.
PMID: 37774117
Fetuses with RASopathies can have a wide variety of anomalies including increased nuchal translucency, hydrops fetalis, and structural anomalies (typically cardiac and renal). There are few reports that describe prenatal-onset...
19.
Liu J, Hufnagel R
Ophthalmic Genet
. 2023 Sep;
44(6):530-538.
PMID: 37732399
Background: Variants in the patatin-like phospholipase domain containing 6 (PNPLA6) gene cause a broad spectrum of neurological disorders characterized by gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies. This...
20.
Benson M, Mukherjee S, Agather A, Blain D, Cunningham D, Mays R, et al.
Invest Ophthalmol Vis Sci
. 2023 Sep;
64(12):19.
PMID: 37695603
Purpose: To describe a group of patients with retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy with a tapetal-like retinal sheen and corresponding changes in the reflectivity of the ellipsoid zone on...