Publications

The published record.

An expert's opinion is only as strong as the record behind it. This page is that record: peer-reviewed research indexed live from PubMed, and the clinical reference texts on peptide and hormone medicine used in practice.

In court, publications do two jobs. They qualify the expert — a documented history of peer-reviewed work in the exact field at issue. And they discipline the opinion: a witness who has published on an agent cannot quietly change position about it on the stand. The list below is pulled directly from PubMed rather than curated, so counsel sees the same record opposing counsel will find.

Peer-Reviewed Research

Selected Publications

Pulled live from PubMed — the most recent indexed work, not a curated list.

View all on PubMed
2026 · Pediatric neurology

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I et al.
PubMed
2025 · Cancers

Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD)

Vaid S, Estrada-Veras J, Gahl WA, Patronas N, Dave RH, Hannah-Shmouni F et al.
PubMed
2024 · Journal of cardiovascular translational research

Ascending Aorta 4D Time to Peak Distention Sexual Dimorphism and Association with Coronary Plaque Burden Severity in Women

Hamimi AH, Ghanem AM, Hannah-Shmouni F, Elgarf RM, Matta JR, Gharib AM et al.
PubMed
2023 · CJC open

Characterizing Hypertension Specialist Care in Canada: A National Survey

Lui S, Dubrofsky L, Khan NA, Tobe SW, Huynh J, Kuyper L et al.
PubMed
2023 · Molecular genetics and metabolism reports

Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"

Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J et al.
PubMed
2023 · Molecular genetics and metabolism reports

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J et al.
PubMed
2023 · Frontiers in endocrinology

Editorial: Adrenal neuroendocrine system and cardiometabolic health: pathophysiology and clinical implications

Thuzar M, Hannah-Shmouni F, Stowasser M
PubMed
2023 · BMC genomics

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

Lyons EL, Watson D, Alodadi MS, Haugabook SJ, Tawa GJ, Hannah-Shmouni F et al.
PubMed
2023 · Frontiers in endocrinology

Editorial: Mechanistic, machine learning and hybrid models of the "other" endocrine regulatory systems in health & disease

DiStefano J 3rd, Hannah-Shmouni F, Clément F
PubMed
2022 · Current cardiology reports

Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas

Pitsava G, Faucz FR, Stratakis CA, Hannah-Shmouni F
PubMed
2022 · Endocrine

USP13 genetics and expression in a family with thyroid cancer

Maria AG, Azevedo B, Settas N, Hannah-Shmouni F, Stratakis CA, Faucz FR et al.
PubMed
2022 · Postgraduate medical journal

Scoping review of COVID-19-related systematic reviews and meta-analyses: can we really have confidence in their results?

Wurth R, Hajdenberg M, Barrera FJ, Shekhar S, Copacino CE, Moreno-Peña PJ et al.
PubMed

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