Elena Repnikova

5PUBLICATIONS
7CO-AUTHORS
Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Foetal development and medicine
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Publications (5)

|May 09, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.

Maxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault

|Sep 04, 2021
Diagnostic yield of genetic testing in 324 infants with hypotonia.

Sonal Sharma, Elena Repnikova, Janelle R Noel-MacDonnell

|Jun 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger

|Aug 08, 2018
Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.

E Repnikova, J Roberts, A Kats

|Jul 29, 2018
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.

Jennifer Roberts, Dmitry Lyalin, Norwood Tosatto

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Frequent Collaborators

1 joint publications

Kévin Uguen

1 joint publications

Kilannin Krysiak

1 joint publications

Sonal Sharma

1 joint publications

Janelle R Noel-MacDonnell