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1
Supportive Care Needs Among Pretreatment Head and Neck Cancer Patients According to Smoking Status: A Cross‐Sectional Study With Nested Analyses

von Dalia N. Mitchell ; Aniah Jefferson ; Justin Pyne ; et al.

Laryngoscope Investigative Otolaryngology, Vol 11, Iss 1, Pp n/a-n/a (2026)

Schlagworte: head and neck cancer; pretreatment; quantitative analysis; smoking; supportive care; Otorhinolaryngology; RF1-547; Surgery; RD1-811
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2
Transformational astrophysics and exoplanet science with Habitable Worlds Observatory's High Resolution Imager

von Van Eylen, Vincent ; Massey, Richard ; Awan, Saeeda ; et al.

Schlagworte: Instrumentation and Methods for Astrophysics; Earth and Planetary Astrophysics; Astrophysics of Galaxies
- View full text via Arxiv
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3
Gemini 2.5: Pushing the Frontier with Advanced Reasoning, Multimodality, Long Context, and Next Generation Agentic Capabilities

von Comanici, Gheorghe ; Bieber, Eric ; Schaekermann, Mike ; et al.

Schlagworte: Computation and Language; Artificial Intelligence
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4
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

von Fitzsimmons, Lane ; Beaulieu-Jones, Brett ; Kobren, Shilpa Nadimpalli ; et al.

BioData Mining. 18(1)
- Zum Volltext in PubMed Central
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5
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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6
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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7
Recommendations from the Canadian Association of Head and Neck Surgical Oncology for the Management of Head and Neck Cancers during the COVID-19 pandemic

von Daniel A. O’Connell ; Hadi Seikaly ; Andre Isaac ; et al.

Journal of Otolaryngology - Head and Neck Surgery, Vol 49, Iss 1, Pp 1-7 (2020)

Schlagworte: COVID-19; SARS-Cov-2; Global pandemic; Head and neck oncology; Head and neck surgery; Clinical practice guideline; Surgery; RD1-811
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8
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling

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

In Genetics in Medicine July 2026
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9
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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10
Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

von Ferrasse, Alexis ; Mendez, Rodrigo ; Gorzynski, John E. ; et al.

Genome Biology. 27(1)
- Zum Volltext in PubMed Central
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11
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

von Acosta, Maria T. ; Adams, David R. ; Afzali, Ben ; et al.

In Genetics in Medicine April 2025 27(4)
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12
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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13
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

von Acosta, Maria T. ; Adams, David R. ; Raquel ; et al.

In Genetics in Medicine November 2024 26(11)
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14
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

von Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; et al.

In Pediatric Neurology November 2024 160:45-53
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15
The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

von Acosta, Maria T. ; Adams, David R. ; Afzali, Ben ; et al.

In Genetics in Medicine October 2024 26(10)
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16
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

von Bacino, Carlos A. ; Balasubramanyam, Ashok ; Burrage, Lindsay C. ; et al.

In Genetics in Medicine September 2024 26(9)
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17
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

von Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; et al.

In Genetics in Medicine September 2024 26(9)
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18
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

von Acosta, Maria T. ; Adams, David R. ; Alvarez, Raquel L. ; et al.

In Genetics in Medicine June 2024 26(6)
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19
De novo variants in DENND5B cause a neurodevelopmental disorder

von Acosta, Maria T. ; Adams, David R. ; Alvarez, Raquel L. ; et al.

In The American Journal of Human Genetics 7 March 2024 111(3):529-543
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20
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

von Borras, Silvia ; Clark, Caroline ; Dean, John ; et al.

In Genetics in Medicine February 2024 26(2)
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21
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

von Lu, Jinfeng ; Toro, Camilo ; Adams, David R. ; et al.

BMC Genomics. 25(1)
- Zum Volltext in PubMed Central
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22
Returning integrated genomic risk and clinical recommendations: The eMERGE study

von Gordon, Adam ; Sobowale, Agboade ; Allworth, Aimee ; et al.

In Genetics in Medicine April 2023 25(4)
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23
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

von Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; et al.

In The American Journal of Human Genetics 4 January 2024 111(1):96-118
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24
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

von Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; et al.

In The Journal of Pediatrics October 2023 261
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25
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

von Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; et al.

In Genetics in Medicine September 2023 25(9)
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