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1
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

von Kobren, Shilpa Nadimpalli ; Moldovan, Mikhail A. ; Reimers, Rebecca ; et al.

Nature Communications. 16(1)
- Zum Volltext in PubMed Central
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2
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

von Cooperstein, Isabelle B. ; Marwaha, Shruti ; Ward, Alistair ; et al.

Genome Medicine. 17(1)
- Zum Volltext in PubMed Central
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3
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

von Bruel, Ange-Line ; Vulto-vanSilfhout, Anneke T. ; Bilan, Frédéric ; et al.

European Journal of Human Genetics. 33(7):852-859
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4
Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

von Tran, Alyssa A. ; Tarakad, Arjun ; Balasubramanyam, Ashok ; et al.

In Genetics in Medicine January 2026
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5
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

von Quinlan, Aaron ; Elkadri, Abdul ; Vanderver, Adeline ; et al.

In Genetics in Medicine May 2025
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6
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

von Park, Min Seon ; Kumar, Runjun D. ; Ovadiuc, Cristian ; et al.

The American Journal of Human Genetics ; volume 112, issue 6, page 1468-1478 ; ISSN 0002-9297
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7
P656: Using functional data for VUS reclassification in cancer predisposition genes

von Pankhuri Gupta ; Abbye McEwen ; Eric Kao ; et al.

Genetics in Medicine Open, Vol 3, Iss , Pp 103025- (2025)

Schlagworte: Genetics; QH426-470; Medicine
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8
P215: Assessment of factors driving disparities in clinical uncertainty for patients seen in adult medical genetics clinics

von Andrew Folta ; Adriana Sedeno-Cortes ; Abbye McEwen ; et al.

Genetics in Medicine Open, Vol 3, Iss , Pp 102180- (2025)

Schlagworte: Genetics; QH426-470; Medicine
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9
P713: Survey results reveal barriers and solutions to the use of functional data in variant interpretation

von Min Seon Park ; Cristian Ovadiuc ; Andrew Folta ; et al.

Genetics in Medicine Open, Vol 3, Iss , Pp 103082- (2025)

Schlagworte: Genetics; QH426-470; Medicine
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10
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11
Mapping and Quantifying the Impact of Urbanization and Influence of COVID-19 Induced Lockdown on Eco-Sensitive Deepor Beel Wetland

von Ali, Mustak ; Saikia, Amlan ; Das, Monisha ; et al.

Conservation of Biodiversity in the North Eastern States of India : Proceedings of NERC 2022. :273-289
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12
P716: Real-world implications of new population genomic datasets for clinical variant interpretation

von Kumar, Runjun ; Paolucci, Sarah ; Williams, Brittany ; et al.

Genetics in Medicine Open ; volume 2, page 101620 ; ISSN 2949-7744
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13
Clinical genome sequencing: Three years’ experience at a tertiary children’s hospital

von Kumar, Runjun D. ; Saba, Lisa F. ; Streff, Haley ; et al.

Genetics in Medicine ; volume 25, issue 10, page 100916 ; ISSN 1098-3600
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14
P564: Genetic test stewardship for clinical exome sequencing: Review of critical care orders at Texas Children’s Hospital

von Haley Streff ; Lisa Saba ; Runjun Kumar ; et al.

Genetics in Medicine Open, Vol 1, Iss 1, Pp 100611- (2023)

Schlagworte: Genetics; QH426-470; Medicine
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15
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16
The prognostic effects of somatic mutations in ER-positive breast cancer

von Obi L. Griffith ; Nicholas C. Spies ; Meenakshi Anurag ; et al.

Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)

Schlagworte: Science
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17
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18
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

von Runjun D. Kumar ; Lindsay C. Burrage ; Jan Bartos ; et al.

Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100706- (2021)

Schlagworte: Urea cycle disorder; Genetic testing; Intronic variant; Ornithine transcarbamylase deficiency; OTC c.540+265G>A; Medicine (General); R5-920; Biology (General); QH301-705.5
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19
A TMPRSS2‐ERG gene signature predicts prognosis of patients with prostate adenocarcinoma

von Emily Zhou ; Baoyi Zhang ; Kenneth Zhu ; et al.

Clinical and Translational Medicine, Vol 10, Iss 8, Pp n/a-n/a (2020)

Schlagworte: Medicine (General); R5-920
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20
Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types

von Runjun D. Kumar ; Ron Bose

Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)

Schlagworte: Medicine; Science
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21
Studies directed toward the exploitation of vicinal diols in the synthesis of (+)-nebivolol intermediates

von Runjun Devi ; Sajal Kumar Das

Beilstein Journal of Organic Chemistry, Vol 13, Iss 1, Pp 571-578 (2017)

Schlagworte: dihydroxylation; epoxide-ring opening; heterocycles; nebivolol; syn-epoxide; Science; Organic chemistry; QD241-441
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22
cis-Diastereoselective synthesis of chroman-fused tetralins as B-ring-modified analogues of brazilin

von Dimpee Gogoi ; Runjun Devi ; Pallab Pahari ; et al.

Beilstein Journal of Organic Chemistry, Vol 12, Iss 1, Pp 2816-2822 (2016)

Schlagworte: brazilin; chroman; epoxy-arene cyclization; natural-product-like molecules; tetralin; Science; Organic chemistry; QD241-441
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23
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity.

von Bruel, Ange-Line ; Silfhout, Anneke Vulto-van ; Bilan, Frederic ; et al.
- View full text via BASE
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24
Selection and characterization of probiotic lactic acid bacteria and its impact on growth, nutrient digestibility, health and antioxidant status in weaned piglets.

von Runjun Dowarah ; Ashok Kumar Verma ; Neeta Agarwal ; et al.

PLoS ONE, Vol 13, Iss 3, p e0192978 (2018)

Schlagworte: Medicine; Science
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25
Author Correction: The prognostic effects of somatic mutations in ER-positive breast cancer

von Griffith, Obi L. ; Spies, Nicholas C. ; Anurag, Meenakshi ; et al.

Nature Communications ; volume 9, issue 1 ; ISSN 2041-1723
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