Minna Kraatari (Minna Kraatari-Tiri)

ORCID

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 16

Top Venues

European journal of human genetics : EJHG

NPJ genomic medicine

Molecular genetics & genomic medicine

Journal of clinical medicine

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

Publications

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Groeschel Samuel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ genomic medicine 9 (1) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ genomic medicine 9 (1) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG 32 (9) (2024)
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ genomic medicine 9 (1) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Groeschel Samuel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Minna Kraatari, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G Karimiani, Jonna Komulainen-Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie-Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B Toosi, Christopher J Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida Maria Bertoli-Avella, Peppi Karppinen, Elisa J Rahikkala
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. Clinical genetics 102 (5) (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Elisa J Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Stephanie Weissgraeber, Aida Maria Bertoli-Avella, Sanna Häkli, Minna Kraatari
Pathogenic REST variant causing Jones syndrome and a review of the literature. European journal of human genetics : EJHG (2022)
Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M Nouel Saied, Marja-Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Regie Lyn P Santos-Cortez
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular genetics & genomic medicine 10 (3) (2022)
Minna Kraatari, Maria K Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S Moilanen, Sanna Häkli, Elisa J Rahikkala
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants. Journal of clinical medicine 11 (7) (2022)

Minna Kraatari.css-eqlu8i{font-size:small;padding-left:4px;} (Minna Kraatari-Tiri)

Publication Activity (10 Years)

Top Topics

Top Venues

Minna Kraatari (Minna Kraatari-Tiri)