Jennifer Schleit

Affiliations

Blueprint Genetics, a Quest Diagnostics Company, 2505 3rd Ave, Suite 204, Seattle, 98121, USA.

Publications (5)

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

BMC cardiovascular disorders

Avec: Julie Hathaway , Krista Heliö , Inka Saarinen , Jonna Tallila , Eija H Seppälä , Sari Tuupanen , Hannu Turpeinen , Tiia Kangas-Kontio , Jennifer Schleit , Johanna Tommiska , Ville Kytölä , Miko Valori , Mikko Muona , Johanna Sistonen , Massimiliano Gentile , Pertteli Salmenperä , Samuel Myllykangas , Jussi Paananen , Tero-Pekka Alastalo , Tiina Heliö , Juha Koskenvuo

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

PloS one

Avec: Juha W Koskenvuo , Inka Saarinen , Saija Ahonen , Johanna Tommiska , Sini Weckström , Eija H Seppälä , Sari Tuupanen , Tiia Kangas-Kontio , Jennifer Schleit , Krista Heliö , Julie Hathaway , Anders Gummesson , Pia Dahlberg , Tiina H Ojala , Ville Vepsäläinen , Ville Kytölä , Mikko Muona , Johanna Sistonen , Pertteli Salmenperä , Massimiliano Gentile , Jussi Paananen , Samuel Myllykangas , Tero-Pekka Alastalo , Tiina Heliö

Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.

American journal of medical genetics. Part A

Avec: Nathalie Gaudreault , Louis-Jacques Ruel , Cyndi Henry , Jennifer Schleit , Patrick Lagüe , Jean Champagne , Mario Sénéchal , Jean-François Sarrazin , François Philippon , Yohan Bossé , Christian Steinberg

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.

European journal of human genetics : EJHG

Avec: Harmen Hawer , Bryce A Mendelsohn , Klaus Mayer , Ann Kung , Amit Malhotra , Sari Tuupanen , Jennifer Schleit , Ulrich Brinkmann , Raffael Schaffrath

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational vision science & technology

Avec: Sari Tuupanen , Kimberly Gall , Johanna Sistonen , Inka Saarinen , Kati Kämpjärvi , Kirsty Wells , Katja Merkkiniemi , Pernilla von Nandelstadh , Laura Sarantaus , Johanna Känsäkoski , Emma Mårtenson , Hanna Västinsalo , Jennifer Schleit , Eeva-Marja Sankila , Annakarin Kere , Heidi Junnila , Pauli Siivonen , Margarita Andreevskaya , Ville Kytölä , Mikko Muona , Pertteli Salmenperä , Samuel Myllykangas , Juha Koskenvuo , Tero-Pekka Alastalo

Réseau de co-auteurs

Sari Tuupanen 4 collaborations

Inka Saarinen 3 collaborations

Ville Kytölä 3 collaborations

Mikko Muona 3 collaborations

Johanna Sistonen 3 collaborations

Pertteli Salmenperä 3 collaborations

Samuel Myllykangas 3 collaborations

Tero-Pekka Alastalo 3 collaborations

Julie Hathaway 2 collaborations

Krista Heliö 2 collaborations

Eija H Seppälä 2 collaborations

Tiia Kangas-Kontio 2 collaborations

Johanna Tommiska 2 collaborations

Massimiliano Gentile 2 collaborations

Jussi Paananen 2 collaborations

Tiina Heliö 2 collaborations

Juha Koskenvuo 2 collaborations

Jonna Tallila 1 collaboration

Hannu Turpeinen 1 collaboration

Miko Valori 1 collaboration

Juha W Koskenvuo 1 collaboration

Saija Ahonen 1 collaboration

Sini Weckström 1 collaboration

Anders Gummesson 1 collaboration

Pia Dahlberg 1 collaboration

Tiina H Ojala 1 collaboration

Ville Vepsäläinen 1 collaboration

Nathalie Gaudreault 1 collaboration

Louis-Jacques Ruel 1 collaboration

Cyndi Henry 1 collaboration

Patrick Lagüe 1 collaboration

Jean Champagne 1 collaboration

Mario Sénéchal 1 collaboration

Jean-François Sarrazin 1 collaboration

François Philippon 1 collaboration

Yohan Bossé 1 collaboration

Christian Steinberg 1 collaboration

Harmen Hawer 1 collaboration

Bryce A Mendelsohn 1 collaboration

Klaus Mayer 1 collaboration

Ann Kung 1 collaboration

Amit Malhotra 1 collaboration

Ulrich Brinkmann 1 collaboration

Raffael Schaffrath 1 collaboration

Kimberly Gall 1 collaboration

Kati Kämpjärvi 1 collaboration

Kirsty Wells 1 collaboration

Katja Merkkiniemi 1 collaboration

Pernilla von Nandelstadh 1 collaboration

Laura Sarantaus 1 collaboration

Johanna Känsäkoski 1 collaboration

Emma Mårtenson 1 collaboration

Hanna Västinsalo 1 collaboration

Eeva-Marja Sankila 1 collaboration

Annakarin Kere 1 collaboration

Heidi Junnila 1 collaboration

Pauli Siivonen 1 collaboration

Margarita Andreevskaya 1 collaboration