G. Hulait

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Phillip A. Richmond, W. Wasserman, C. Boerkoel, 2022, HGG advances.

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

S. Langlois, A. Mattman, L. Armstrong, 2009, Prenatal diagnosis.

Maternal serum screening in triploidy

G. Lockitch, S. Langlois, D. McFadden, 2002, Prenatal diagnosis.

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019, Clinical genetics.

Title : Exome sequencing in Crisponi / CISS-like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019 .

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

A. Lehman, L. Arbour, J. Hathaway, 2017, Journal of Genetic Counseling.