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1
P852: Prenatal whole genome sequencing to diagnosis rare presentations of hydrops fetalis

von Corrine Nelson ; Myra Wick ; Laura Rust

Genetics in Medicine Open, Vol 3, Iss , Pp 103221- (2025)

Schlagworte: Genetics; QH426-470; Medicine
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2
P238: Diagnostic yield of ultra-rapid whole genome sequencing in the NICU: A retrospective review of 324 cases at a single institution

von Radhika Dhamija ; Hala Deeb ; Laura Rust ; et al.

Genetics in Medicine Open, Vol 3, Iss , Pp 102203- (2025)

Schlagworte: Genetics; QH426-470; Medicine
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3
P865: Maternal mosaicism for TRPV4 p.R269H and siblings with variable phenotypes, including prenatal ultrasound findings associated with lethality

von Myra Wick ; Laura Rust ; Neal Niu

Genetics in Medicine Open, Vol 3, Iss , Pp 103234- (2025)

Schlagworte: Genetics; QH426-470; Medicine
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4
Command A: An Enterprise-Ready Large Language Model

von Cohere, Team ; Aakanksha ; Ahmadian, Arash ; et al.

Schlagworte: Computer Science - Computation and Language; Computer Science - Artificial Intelligence; Computer Science - Machine Learning
- View full text via Arxiv
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5
P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype

von Laura Rust ; Paige Hazelton ; Joseph Farris ; et al.

Genetics in Medicine Open, Vol 2, Iss , Pp 101305- (2024)

Schlagworte: Genetics; QH426-470; Medicine
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6
P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing

von Sarah Barnett ; Laura Rust ; Alanna Cera ; et al.

Genetics in Medicine Open, Vol 2, Iss , Pp 101630- (2024)

Schlagworte: Genetics; QH426-470; Medicine
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7
P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing

von Nisha Kanwar ; Lidija Gorsic ; Laura Rust ; et al.

Genetics in Medicine Open, Vol 2, Iss , Pp 101570- (2024)

Schlagworte: Genetics; QH426-470; Medicine
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8
Age-associated defect in ADCC response to COVID-19 vaccine

von Sievers, Benjamin L. ; Altaf, Mazharul ; Cheng, Mark T. K. ; et al.

npj Vaccines. 10(1)
- Zum Volltext in PubMed Central
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9
Continuation of Pediatric Care after Transfer to Adult Care among Autistic Youth Overlap of Pediatric and Adult Care

von Joseph Sirrianni ; Christopher Hanks ; Steve Rust ; et al.

Journal of Autism and Developmental Disorders. 2025 55(4):1203-1214.

Schlagworte: Autism Spectrum Disorders; Adolescents; Young Adults; Pediatrics; Primary Health Care; Age Differences; Individual Characteristics; Health Services; Medical Care Evaluation
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10
Leveraging Artificial Intelligence To Support Pediatric Mental Health in the Context of Climate Change: Educational Strategies for Healthcare Providers

von Patrick, Michael D. ; Rust, Laura O.H.

Current Pediatrics Reports. 13(1)
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11
P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report

von Rhianna Urban ; Megan Holdren ; Megan Hoenig ; et al.

Genetics in Medicine Open, Vol 1, Iss 1, Pp 100105- (2023)

Schlagworte: Genetics; QH426-470; Medicine
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12
P608: Specialization in prenatal genetic counseling: Defining the role of fetal therapy genetic counselors

von Emma Culter ; Kestutis Micke ; Laura Rust ; et al.

Genetics in Medicine Open, Vol 1, Iss 1, Pp 100664- (2023)

Schlagworte: Genetics; QH426-470; Medicine
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13
Foundations of Clinical Informatics for Generalists: Exploring the History, Core Concepts, and Current State of Informatics in Healthcare

von Patel, Shama ; Mezoff, Ethan A. ; Rust, Laura

In Medical Clinics of North America March 2026 110(2):151-162
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14
Varying Effects of Antipsychotics and Attention-Deficit Hyperactivity Disorder Medications on Body Mass Index among a Cohort of Autistic Youth

von Hart, Laura C. ; Sirrianni, Joseph ; Rust, Steve ; et al.

In The Journal of Pediatrics: Clinical Practice September 2025 17
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15
Challenges and Strategies in Cross-Cultural NLP

von Hershcovich, Daniel ; Frank, Stella ; Lent, Heather ; et al.

Schlagworte: Computer Science - Computation and Language
- View full text via Arxiv
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16
An exploratory study of perceptions and utilization of genetic information in the intended parent experience of oocyte donor selection

von Kalscheur, Carolyn ; Kashmola-Perez, Iman ; Rust, Laura ; et al.

Journal of Assisted Reproduction and Genetics. 41(11):2999-3011
- Zum Volltext in PubMed Central
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17
Worldwide trends in diabetes prevalence and treatment from 1990 to 2022: a pooled analysis of 1108 population-representative studies with 141 million participants

von Zhou, Bin ; Rayner, Archie W ; Gregg, Edward W ; et al.

In The Lancet 23-29 November 2024 404(10467):2077-2093
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18
General and abdominal adiposity and hypertension in eight world regions: a pooled analysis of 837 population-based studies with 7·5 million participants

von Zhou, Bin ; Bennett, James E ; Wickham, Aidan P ; et al.

In The Lancet 31 August-6 September 2024 404(10455):851-863
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19
Efficacy of repeated immunoadsorption in patients with post-COVID myalgic encephalomyelitis/chronic fatigue syndrome and elevated β2-adrenergic receptor autoantibodies: a prospective cohort study

von Stein, Elisa ; Heindrich, Cornelia ; Wittke, Kirsten ; et al.

In The Lancet Regional Health - Europe February 2025 49
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20
Special considerations in assisted reproductive technology for patients with pulmonary disease

von Maxwell, John B. ; Kelm, Diana J. ; Rust, Laura M. ; et al.

In Fertility and Sterility March 2025
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21
Ariel: Enabling planetary science across light-years

von Tinetti, Giovanna ; Eccleston, Paul ; Haswell, Carole ; et al.

Schlagworte: Astrophysics - Instrumentation and Methods for Astrophysics; Astrophysics - Earth and Planetary Astrophysics
- View full text via Arxiv
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22
Insulin receptor signaling engages bladder urothelial defenses that limit urinary tract infection

von Schwartz, Laura ; Salamon, Kristin ; Simoni, Aaron ; et al.

In Cell Reports 23 April 2024 43(4)
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23
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24
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25
Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c

von Zhou, Bin ; Sheffer, Kate E. ; Bennett, James E. ; et al.

Nature Medicine. 29(11):2885-2901
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