Yves Lacassie

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 7

Top Topics

Autism Spectrum Disorder

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Clinical case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Sheng-Jia Lin, Barbara Vona, Hillary M Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill Anne Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba Akbar Ali, Nazif Muhammad, Sher Alam Khan, Noor Muhammad, Pengfei Liu, Marie-Louise Haymon, Franz Rüschendorf, Il-Keun Kong, Linda Schnapp, Natasha Shur, Lynn P Chorich, Lawrence C Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung-Goo Kim, Guarav K Varshney
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human mutation 43 (10) (2022)
Benjamin Chanes, Marta Arriaza, Yves Lacassie
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them. American journal of medical genetics. Part A 185 (4) (2021)
Devon Haynes, Lynda Pollack, Chitra Prasad, Sharan Goobie, Samantha Colaiacovo, Tara Wolfinger, Yves Lacassie
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. American journal of medical genetics. Part A 182 (7) (2020)
Yves Lacassie, Britt Johnson, Guillermo Lay-Son, Rita Quintana, Andrew King, Fanny Cortes, Cecilia Alvarez, Ricardo Gomez, Alfonso Vargas, Stuart Chalew, Alejandra King, Sylvia Guardia, Ricardo U Sorensen, Swaroop Aradhya
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. American journal of medical genetics. Part A 182 (7) (2020)
Michelle E Walters, Yves Lacassie, Mahshid Azamian, Rachel Franciskovich, Gladys Zapata, Patricia P Hernandez, Pengfei Liu, Ian M Campbell, Bret L Bostwick, Seema R Lalani
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. American journal of medical genetics. Part A 185 (3) (2020)
John McCarthy, Philip J Lupo, Erin Kovar, Megan Rech, Bret Bostwick, Daryl Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A Schrier Vergano, Edward Lose, Robert Smiegel, Yves Lacassie, Christian Patrick Schaaf
Schaaf-Yang syndrome overview: Report of 78 individuals. American journal of medical genetics. Part A 176 (12) (2018)
Kirsten A Wood, Regina M Zambrano, Bradley J Cheek, Christopher Arcement, Marie Haymon, Jessica Steinkampf, Srirangan Sampath, James C Hyland, Yves Lacassie
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother. Clinical case reports 5 (4) (2017)