Maureen S Mulhern (Maureen Mulhern)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 10

Top Topics

Intellectual Disability

Prefrontal Cortex

Genome Wide Association Study

Top Venues

Science advances

medRxiv : the preprint server for health sciences

Annals of neurology

Journal of genetic counseling

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

Publications

Nora I Strom, Zachary F Gerring, Marco Galimberti, Dongmei Yu, Matthew W Halvorsen, Abdel Abdellaoui, Cristina Rodriguez-Fontenla, Julia M Sealock, Tim B Bigdeli, Jonathan R I Coleman, Behrang Mahjani, Jackson G Thorp, Katharina Bey, Christie L Burton, Jurjen J Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D Askland, Nerisa Banaj, Cristina Barlassina, Judith Becker Nissen, O Joseph Bienvenu, Donald Black, Michael H Bloch, Julia Bäckmann, Sigrid Børte, Rosa Bosch, Michael Breen, Brian P Brennan, Helena Paula Brentani, Joseph D Buxbaum, Jonas Byberg-Grauholm, Enda M Byrne, Judit Cabana-Domínguez, Beatriz Camarena, Adrian Camarena, Carolina Cappi, Angel Carracedo, Miguel Casas, Maria Cristina Cavallini, Valentina Ciullo, Edwin H Cook, Jesse Crosby, Bernadette A Cullen, Elles J De Schipper, Richard Delorme, Srdjan Djurovic, Jason A Elias, Xavier Estivil, Martha J Falkenstein, Bengt T Fundin, Lauryn Garner, Chris German, Christina Gironda, Fernando S Goes, Marco A Grados, Jakob Grove, Wei Guo, Jan Haavik, Kristen Hagen, Kelly M Harrington, Karoline Alexandra Havdahl, Kira D Höffler, Ana G Hounie, Donald Hucks, Christina M Hultman, Magdalena Janecka, Eric Jenike, Elinor K Karlsson, Kara Kelley, Julia Klawohn, Janice E Krasnow, Kristi Krebs, Christoph Lange, Nuria Lanzagorta-Piñol, Daniel F Levey, Kerstin Lindblad-Toh, Fabio Macciardi, Brion S Maher, Brittany Mathes, Evonne McArthur, Nathaniel W McGregor, Nicole C R McLaughlin, Sandra M Meier, Eurípedes Constantino Miguel, Maureen S Mulhern, Paul S Nestadt, Erika L Nurmi, Kevin Sean O'Connell, Lisa Osiecki, Olga Therese Ousdal, Teemu Palviainen, Nancy L Pedersen, Fabrizio Piras, Federica Piras, Sriramya Potluri, Raquel Rabionet Janssen, Alfredo Ramirez, Scott L Rauch, Abraham Reichenberg, Mark A Riddle, Stephan Ripke, Maria C Rosário, Aline Santos Sampaio, Miriam A Schiele, Anne Heidi Skogholt, Laura G Sloofman G Sloofman, Jan Smit, Artigas María Soler, Laurent F Thomas, Eric D Tifft, Homero Vallada, Nathaniel P Van Kirk, Jeremy Veenstra-VanderWeele, Nienke N Vulink, Christopher P Walker, Ying Wang, Jens R Wendland, Bendik Slagsvold Winsvold, Yin Yao, Hang Zhou, null null, null null, null null, null null, null null, Arpana Agrawal, Pino Alonso, Götz Berberich, Kathleen K Bucholz, Cynthia M Bulik, Danielle C Cath, Damiaan A J P Denys, Valsamma Eapen, Howard J Edenberg, Peter G Falkai, Thomas V Fernandez, Abby J Fyer, John Michael Gaziano, Daniel A Geller, Hans Jörgen Grabe, Benjamin D Greenberg, Gregory L Hanna, Ian B Hickie, David Michael Hougaard, Norbert Kathmann, Ayeshah G Mohiuddin, Dongbing Lai, Mikaél Landén, Stephanie Le Hellard, Marion Leboyer, Christine Lochner, James T McCracken, Sarah E Medland, Preben Bo Mortensen, Benjamin M Neale, Humberto Nicolini, Merete Nordentoft, Michele Pato, Carlos N Pato, David L Pauls, John Piacentini, Christopher Pittenger, Danielle Posthuma, Josep-Antoni Ramos-Quiroga, Steven A Rasmussen, Margaret A Richter, David M Rosenberg, Stephan Ruhrmann, Jack F Samuels, Sven Sandin, Paul Sandor, Gianfranco Spalletta, Dan J Stein, S Evelyn Stewart, Eric A Storch, Barbara E Stranger, Maurizio Turiel, Thomas M Werge, Ole Andreas Andreassen, Anders Dupont Børglum, Susanne Walitza, Kristian Hveem, Bjarne K Hansen, Christian P Rück, Nicholas G Martin, Lili A Milani, Ole Mors, Ted Reichborn Kjennerud, Marta Ribases, Gerd Kvale, David Mataix-Cols, Katharina Domschke, Edna Grünblatt, Michael Wagner, John-Anker Zwart, Gerome D Breen, Gerald Nestadt, Jaakko A Kaprio, Paul D Arnold, Dorothy E Grice, James A Knowles, Helga Ask, Karin J H Verweij, Lea K Davis, Dirk J A Smit, James J Crowley, Jeremiah M Scharf, Murray B Stein, Joshua C Gray, Carol A Mathews, Eske M Derks, Manuel Mattheisen
Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci. medRxiv : the preprint server for health sciences (2024)
Nora I Strom, Zachary F Gerring, Marco Galimberti, Dongmei Yu, Matthew W Halvorsen, Abdel Abdellaoui, Cristina Rodriguez-Fontenla, Julia M Sealock, Tim B Bigdeli, Jonathan R I Coleman, Behrang Mahjani, Jackson G Thorp, Katharina Bey, Christie L Burton, Jurjen J Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D Askland, Nerisa Banaj, Cristina Barlassina, Judith Becker Nissen, O Joseph Bienvenu, Donald Black, Michael H Bloch, Julia Bäckmann, Sigrid Børte, Rosa Bosch, Michael Breen, Brian P Brennan, Helena Paula Brentani, Joseph D Buxbaum, Jonas Byberg-Grauholm, Enda M Byrne, Judit Cabana-Domínguez, Beatriz Camarena, Adrian Camarena, Carolina Cappi, Angel Carracedo, Miguel Casas, Maria Cristina Cavallini, Valentina Ciullo, Edwin H Cook, Jesse Crosby, Bernadette A Cullen, Elles J De Schipper, Richard Delorme, Srdjan Djurovic, Jason A Elias, Xavier Estivil, Martha J Falkenstein, Bengt T Fundin, Lauryn Garner, Chris German, Christina Gironda, Fernando S Goes, Marco A Grados, Jakob Grove, Wei Guo, Jan Haavik, Kristen Hagen, Kelly M Harrington, Karoline Alexandra Havdahl, Kira D Höffler, Ana G Hounie, Donald Hucks, Christina M Hultman, Magdalena Janecka, Eric Jenike, Elinor K Karlsson, Kara Kelley, Julia Klawohn, Janice E Krasnow, Kristi Krebs, Christoph Lange, Nuria Lanzagorta-Piñol, Daniel F Levey, Kerstin Lindblad-Toh, Fabio Macciardi, Brion S Maher, Brittany Mathes, Evonne McArthur, Nathaniel W McGregor, Nicole C R McLaughlin, Sandra M Meier, Eurípedes Constantino Miguel, Maureen S Mulhern, Paul S Nestadt, Erika L Nurmi, Kevin Sean O'Connell, Lisa Osiecki, Olga Therese Ousdal, Teemu Palviainen, Nancy L Pedersen, Fabrizio Piras, Federica Piras, Sriramya Potluri, Raquel Rabionet Janssen, Alfredo Ramirez, Scott L Rauch, Abraham Reichenberg, Mark A Riddle, Stephan Ripke, Maria C Rosário, Aline Santos Sampaio, Miriam A Schiele, Anne Heidi Skogholt, Laura G Sloofman G Sloofman, Jan Smit, Artigas María Soler, Laurent F Thomas, Eric D Tifft, Homero Vallada, Nathaniel P Van Kirk, Jeremy Veenstra-VanderWeele, Nienke N Vulink, Christopher P Walker, Ying Wang, Jens R Wendland, Bendik Slagsvold Winsvold, Yin Yao, Hang Zhou, null null, null null, null null, null null, null null, null null, null null, Arpana Agrawal, Pino Alonso, Götz Berberich, Kathleen K Bucholz, Cynthia M Bulik, Danielle C Cath, Damiaan A J P Denys, Valsamma Eapen, Howard J Edenberg, Peter G Falkai, Thomas V Fernandez, Abby J Fyer, John Michael Gaziano, Daniel A Geller, Hans Jörgen Grabe, Benjamin D Greenberg, Gregory L Hanna, Ian B Hickie, David Michael Hougaard, Norbert Kathmann, Ayeshah G Mohiuddin, Dongbing Lai, Mikaél Landén, Stephanie Le Hellard, Marion Leboyer, Christine Lochner, James T McCracken, Sarah E Medland, Preben Bo Mortensen, Benjamin M Neale, Humberto Nicolini, Merete Nordentoft, Michele Pato, Carlos N Pato, David L Pauls, John Piacentini, Christopher Pittenger, Danielle Posthuma, Josep-Antoni Ramos-Quiroga, Steven A Rasmussen, Margaret A Richter, David M Rosenberg, Stephan Ruhrmann, Jack F Samuels, Sven Sandin, Paul Sandor, Gianfranco Spalletta, Dan J Stein, S Evelyn Stewart, Eric A Storch, Barbara E Stranger, Maurizio Turiel, Thomas M Werge, Ole Andreas Andreassen, Anders Dupont Børglum, Susanne Walitza, Kristian Hveem, Bjarne K Hansen, Christian P Rück, Nicholas G Martin, Lili A Milani, Ole Mors, Ted Reichborn Kjennerud, Marta Ribases, Gerd Kvale, David Mataix-Cols, Katharina Domschke, Edna Grünblatt, Michael Wagner, John-Anker Zwart, Gerome D Breen, Gerald Nestadt, Jaakko A Kaprio, Paul D Arnold, Dorothy E Grice, James A Knowles, Helga Ask, Karin J H Verweij, Lea K Davis, Dirk J A Smit, James J Crowley, Jeremiah M Scharf, Murray B Stein, Joshua C Gray, Carol A Mathews, Eske M Derks, Manuel Mattheisen
Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci. medRxiv : the preprint server for health sciences (2024)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Maureen S Mulhern, Constance Stumpel, Nicholas Stong, Han G Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P W Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P A Stegmann, Mary K Kukolich, Aida Telegrafi, Anna Lehman, null null, Elena Lopez-Rangel, Nada Houcinat, Magalie Barth, Nicolette den Hollander, Mariette J V Hoffer, Sarah Weckhuysen, null null, Jolien Roovers, Tania Djemie, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R Lemke, Christian Korff, Heather C Mefford, Candace T Meyers, Zsuzsanna Siegler, Susan M Hiatt, Gregory M Cooper, E Martina Bebin, Lot Snijders Blok, Hermine E Veenstra-Knol, Evan H Baugh, Eva H Brilstra, Catharina M L Volker-Touw, Ellen van Binsbergen, Anya Revah-Politi, Elaine Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cedric Le Caignec, Brigitte Gilbert-Dussardier, Frederic Bilan, Erin L Heinzen, David B Goldstein, Servi J C Stevens, Tristan T Sands
NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Annals of neurology 84 (5) (2018)
Maureen S Mulhern, Louise Bier, Roy N Alcalay, Manisha Balwani
Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers. Journal of genetic counseling 27 (3) (2017)