Sylvie Jaillard (S Jaillard)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 17

Top Venues

Genes

Human mutation

European journal of human genetics : EJHG

Human reproduction (Oxford, England)

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

Publications

Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena Jane Tucker
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Genes 15 (3) (2024)
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Severine Mazaud-Guittot, Stéphane Dréano, Bertrand Evrard, Antoine Bigand, Aurélie Cauchoix, Philippe Loget, Anna Lokchine, Laurence Cluzeau, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing. Genes 14 (2) (2023)
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Severine Mazaud-Guittot, Stéphane Dréano, Bertrand Evrard, Antoine Bigand, Aurélie Cauchoix, Philippe Loget, Anna Lokchine, Laurence Cluzeau, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing. Genes 14 (2) (2023)
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Severine Mazaud-Guittot, Stéphane Dréano, Bertrand Evrard, Antoine Bigand, Aurélie Cauchoix, Philippe Loget, Anna Lokchine, Laurence Cluzeau, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing. Genes 14 (2) (2023)
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Severine Mazaud-Guittot, Stéphane Dréano, Bertrand Evrard, Antoine Bigand, Aurélie Cauchoix, Philippe Loget, Anna Lokchine, Laurence Cluzeau, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing. Genes 14 (2) (2023)
Elena Jane Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, David Gilot, Tiffany Brun, Brianna L Kline, Katrina M Bell, Mathilde Domin-Bernhard, Camille Théard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L Ayers, Andrew H Sinclair, Volker Dötsch, Sylvie Jaillard
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. Human mutation 43 (10) (2022)
Laura Mary, Delphine Leclerc, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects. Human mutation 43 (9) (2022)
F Ghieh, A L Barbotin, N Swierkowski-Blanchard, C Leroy, J Fortemps, C Gerault, C Hue, H Mambu Mambueni, Sylvie Jaillard, M Albert, M Bailly, V Izard, D Molina-Gomes, F Marcelli, J Prasivoravong, V Serazin, M N Dieudonne, M Delcroix, Henri-Jean Garchon, A Louboutin, Béatrice Mandon-Pépin, Sophie Ferlicot, François Vialard
Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes. Human reproduction (Oxford, England) 37 (6) (2022)
Elena Jane Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert D S Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. The Journal of clinical endocrinology and metabolism 107 (12) (2022)
Anne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, Lisa G Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Chrisodoulou, Célia Ravel, Andrew H Sinclair, Marc-Antoine Belaud-Rotureau, Elena Jane Tucker, Sylvie Jaillard
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss. European journal of human genetics : EJHG (2022)
Brianna L Kline, Sylvie Jaillard, Katrina M Bell, Shabnam Bakhshalizadeh, Gorjana Robevska, Jocelyn van den Bergen, Jérôme Dulon, Katie L Ayers, John Chrisodoulou, Michel C Tchan, Philippe Touraine, Andrew H Sinclair, Elena Jane Tucker
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency. Genes 13 (11) (2022)
Elena Jane Tucker, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Katie L Ayers, Nurin Listyasari, Sultana Mh Faradz, Jérôme Dulon, Shabnam Bakhshalizadeh, Rajini Sreenivasan, Benedicte Nouyou, Wilfrid Carre, Linda Akloul, Solène Duros, Mathilde Domin-Bernhard, Marc-Antoine Belaud-Rotureau, Philippe Touraine, Sylvie Jaillard, Andrew H Sinclair
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes. European journal of human genetics : EJHG (2021)
Sylvie Jaillard, Elena J Tucker, Linda Akloul, Marion Beaumont, Mathilde Domin, Laurent Pasquier, Guilhem Jouve, Sylvie Odent, Marc-Antoine Belaud-Rotureau, Célia Ravel
22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency. Journal of human genetics 63 (5) (2018)

Sylvie Jaillard.css-eqlu8i{font-size:small;padding-left:4px;} (S Jaillard)

Publication Activity (10 Years)

Top Topics

Top Venues

Sylvie Jaillard (S Jaillard)