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Shodair Children's Hospital | Researchclopedia

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Shodair Children's Hospital

Helena, Montanahealthcare

273

Works

19,605

Citations

70

h-index

Top Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genetics and Neurodevelopmental Disorders

Top Researchers

2,136 works75,852 citationsh-index: 112

Recent Research

P464: The lived body in genomic medicine: Mixed-methods pilot study of existential themes in families of patients with genetic conditions

Abdallah F. Elias,Ethan Sten,et al.

20260 citations

Genetic Syndromes and Imprinting

Genomics and Rare Diseases

Chromosomal and Genetic Variations

Metabolism and Genetic Disorders

RNA modifications and cancer

BRCA gene mutations in cancer

Hedgehog Signaling Pathway Studies

Autism Spectrum Disorder Research

Cleft Lip and Palate Research

James F. Reynolds Duke University

1,178 works62,148 citationsh-index: 107

Muin J. Khoury Washington State Department of Health

508 works28,587 citationsh-index: 82

Judith D. Goldberg NYU Langone Health

643 works23,163 citationsh-index: 80

Grant R. Sutherland

223 works18,671 citationsh-index: 69

Giovanni Neri Università Cattolica del Sacro Cuore

535 works17,657 citationsh-index: 69

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

Abdallah F. Elias

20250 citations

Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell‐Silver Syndrome in Infancy

Amanda Thomas‐Wilson,Mythily Ganapathi,et al.

20251 citations

Non‐Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype

Courtney P. Verscaj,Michael S. Gordon,et al.

20250 citations

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Monica H. Wojcik,Robin D. Clark,et al.

20250 citations

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

Bobby G. Ng,Erik A. Eklund,et al.

20251 citations