Élise Schaefer

Pennsylvania State University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

50h-index8.6kcitations398works2.82yr avg
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Research Topics

Genomics and Rare Diseases(50), Genetics and Neurodevelopmental Disorders(36), Genomic variations and chromosomal abnormalities(27), Connective tissue disorders research(24), Cinema and Media Studies(23)

Publications390 total

L’haplotype HAQ de STING n’explique pas à lui seul la pénétrance incomplète du syndrome COPA
La Revue de Médecine Interne·2025
Outcome variation in the use and duration of antibiotic therapy in patients presenting with acute diverticulitis
BMC Gastroenterology·2025Open Access
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
The American Journal of Human Genetics·2025Open Access
Opioid Provision After Inpatient Care is Associated With Poor Outcomes in Inflammatory Bowel Disease
Journal of Clinical Gastroenterology·2025
What Are We Missing? SEEKing Expanded Support for Health-Related Social Needs
Clinical Pediatrics·2025Open Access
Sociodemographic Factors, Intent-Uptake Disparities, and Nirsevimab Availability in Infant RSV Immunoprophylaxis
Pediatric Reports·2025· 2 citedOpen Access
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration
Forensic Science International Genetics·2025
<i>ACTB</i> deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
Journal of Medical Genetics·2025
A Randomized, Placebo‐Controlled Trial of Hydroxychloroquine in Incomplete Lupus
Arthritis & Rheumatology·2025· 3 citedOpen Access
Surgical management patterns for spontaneous pneumothorax in adolescents and young adults
Surgery·2025
245 Comparison of Single-Lumen Midline Catheters to Long Peripheral Intravenous Lines in the Emergency Department: A Randomized Controlled Trial
Annals of Emergency Medicine·2025Open Access
Cyclic vomiting and digestive symptoms in White–Sutton syndrome: a participatory study
2025Open Access
‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
Journal of Medical Genetics·2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
Clinical Genetics·2025Open Access
Ictal Asystole in a Patient With <scp>DEE</scp> due to an <i>FGF12</i> Pathogenic Variant: A Reminder to Monitor Cardiac Function
Clinical Genetics·2025Open Access
Exposure to advanced therapies and risk of surgery in Crohn’s disease
Surgical Endoscopy·2025Open Access
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol
BMC Oral Health·2025Open Access
Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort
Orphanet Journal of Rare Diseases·2025· 2 citedOpen Access
Factors Influencing Parental Decisions on Respiratory Syncytial Virus Immunoprophylaxis
The Journal of Pediatrics Clinical Practice·2025· 2 citedOpen Access
Syndromic Gingival Fibromatosis Associated With Pathogenic Variation in the Voltage-gated Potassium Channel Gene Kcnh1: A Case Report and Proposed Treatment Protocol
2025Open Access
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Frequent Co-authors

Hélène Dollfus(8), David Geneviève(7), Bertrand Isidor(7), Cyril Mignot(5), Amélie Piton(5), Jean Muller(5), Corinne Stoetzel(5), Ian M. Paul(4), Marie Vincent(4), Didier Lacombe(4), Laurent Pasquier(4), Sandra Mercier(4), Alain Verloès(4), Corinne Collet(4), Gaëtan Lesca(4), Sophie Scheidecker(4), Véronique Geoffroy(4), Jean‐Louis Mandel(4), Marion Gérard(4), Massimiliano Rossi(4)