American journal of human genetics

Keyphrases

Publications

volume 111, number 8, 2024

Xianghong Hu, Mingxuan Cai, Jiashun Xiao, Xiaomeng Wan, Zhiwei Wang, Hongyu Zhao, Can Yang
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics. American journal of human genetics 111 (8) (2024)
Xavier Bledsoe, Eric R Gamazon
A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health. American journal of human genetics 111 (8) (2024)
Emmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, Alison Gardner, Mark A Corbett, Tarin Ritchie, Thessa Kroes, Clare L van Eyk, Ingrid E Scheffer, Michael S Hildebrand, Jean-Vianney Barnier, Véronique Rousseau, David Genevieve, Virginie Haushalter, Amélie Piton, Anne-Sophie Denommé-Pichon, Ange-Line Bruel, Sophie Nambot, Bertrand Isidor, John Grigg, Tina Gonzalez, Sondhya Ghedia, Rhett G Marchant, Adam Bournazos, Wui-Kwan Wong, Richard I Webster, Frances J Evesson, Kristi J Jones, null null, Sandra T Cooper, Ryan Lister, Jozef Gecz, Lachlan A Jolly
RNA variant assessment using transactivation and transdifferentiation. American journal of human genetics 111 (8) (2024)
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Bert B A de Vries, Martina Ruiterkamp-Versteeg, Nicole de Leeuw, Charlotte W Ockeloen, Rolph Pfundt, Elke de Boer, Joost Kummeling, Bregje van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Maria Irene Valenzuela, Siddharth Srivastava, Zoe Frazier, Isabelle Maystadt, Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian, Gijs W E Santen, Kay Metcalfe, Soo-Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai, Daniel Weisberg, Gertrud Strobl-Wildemann, Annemieke Wagemans, Maaike Vreeburg, Diana Baralle, Nicola Foulds, Ingrid Scurr, Nicola Brunetti-Pierri, Johanna M van Hagen, Emilia K Bijlsma, Anna H Hakonen, Carolina Courage, David Genevieve, Lucile Pinson, Francesca Forzano, Charu Deshpande, Maria L Kluskens, Lindsey Welling, Astrid S Plomp, Els K Vanhoutte, Louisa Kalsner, Janna A Hol, Audrey Putoux, Johanna Lazier, Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea, Damien Lederer, Julie Fleischer, Mary O'Connor, Melissa Pauly, Georgia Vasileiou, André Reis, Catherine Kiraly-Borri, Arjan Bouman, Chris Barnett, Marjan Nezarati, Lauren Borch, Gea Beunders, Kübra Özcan, Stéphanie Miot, Catharina M L Volker-Touw, Koen L I van Gassen, Gerarda Cappuccio, Katrien Janssens, Nofar Mor, Inna Shomer, Dan Dominissini, Matthew L Tedder, Alison M Muir, Bekim Sadikovic, Han G Brunner, Lisenka E L M Vissers, Yoichi Shinkai, Tjitske Kleefstra
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. American journal of human genetics 111 (8) (2024)
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Nicola Foulds, Elizabeth A Jones, Sarah Stewart, Pradeep Vasudevan, Tabib Dabir, Soo-Mi Park, Rosalyn Jewell, Natasha Brown, Lynn Pais, Sébastien Jacquemont, Khadijé Jizi, Conny M A van Ravenswaaij-Arts, Hester Y Kroes, Constance T R M Stumpel, Charlotte W Ockeloen, Illja J Diets, Mathilde Nizon, Marie Vincent, Benjamin Cogné, Thomas Besnard, Marios Kambouris, Emily Anderson, Elaine H Zackai, Carey McDougall, Sarah Donoghue, Anne O'Donnell-Luria, Zaheer Valivullah, Melanie O'Leary, Siddharth Srivastava, Heather Byers, Nancy Leslie, Sarah Mazzola, George E Tiller, Moin Vera, Joseph J Shen, Richard Boles, Vani Jain, Elise Brischoux-Boucher, Esther Kinning, Brittany N Simpson, Jacques C Giltay, Jacqueline Harris, Boris Keren, Anne Guimier, Pierre Marijon, Bert B A de Vries, Constance S Motter, Bryce A Mendelsohn, Samantha Coffino, Erica H Gerkes, Alexandra Afenjar, Paola Visconti, Elena Bacchelli, Elena Maestrini, Andree Delahaye-Duriez, Catherine Gooch, Yvonne Hendriks, Hieab Adams, Christel Thauvin-Robinet, Sarah Josephi-Taylor, Marta Bertoli, Michael J Parker, Julie W Rutten, Oana Caluseriu, Hilary J Vernon, Jonah Kaziyev, Jia Zhu, Jessica Kremen, Zoe Frazier, Hailey Osika, David Breault, Sreelata Nair, Suzanne M E Lewis, Fabiola Ceroni, Marta Viggiano, Annio Posar, Helen Brittain, Traficante Giovanna, Gori Giulia, Lina Quteineh, Russia Ha-Vinh Leuchter, Evelien Zonneveld-Huijssoon, Cecilia Mellado, Isabelle Marey, Alicia Coudert, Mariana Inés Aracena Alvarez, Milou G P Kennis, Arianne Bouman, Maian Roifman, María Inmaculada Amorós Rodríguez, Juan Dario Ortigoza-Escobar, Vivian Vernimmen, Margje Sinnema, Rolph Pfundt, Han G Brunner, Lisenka E L M Vissers, Tjitske Kleefstra, Rosanna Weksberg, Siddharth Banka
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American journal of human genetics 111 (8) (2024)
Jonatan L Hervoso, Kofi Amoah, Jack Dodson, Mudra Choudhury, Arjun Bhattacharya, Giovanni Quinones-Valdez, Bogdan Pasaniuc, Xinshu Xiao
Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophrenia. American journal of human genetics 111 (8) (2024)
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Jessica Rzasa, Haley McConkey, Carolyn Lauzon-Young, Tugce B Balci, Alexandre M White-Brown, Melissa T Carter, Julie Richer, Christine M Armour, Sarah L Sawyer, Priya T Bhola, Matthew L Tedder, Cindy D Skinner, Iris A L M van Rooij, Romy van de Putte, Ivo de Blaauw, Rebekka M Koeck, Alexander Hoischen, Han Brunner, Masoud Zamani Esteki, Anna Pelet, Stanislas Lyonnet, Jeanne Amiel, Kym M Boycott, Bekim Sadikovic
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations. American journal of human genetics 111 (8) (2024)
Jihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna H Poduri, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Martijn J de Groot, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. American journal of human genetics 111 (8) (2024)
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Bert B A de Vries, Martina Ruiterkamp-Versteeg, Nicole de Leeuw, Charlotte W Ockeloen, Rolph Pfundt, Elke de Boer, Joost Kummeling, Bregje van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Maria Irene Valenzuela, Siddharth Srivastava, Zoe Frazier, Isabelle Maystadt, Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian, Gijs W E Santen, Kay Metcalfe, Soo-Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai, Daniel Weisberg, Gertrud Strobl-Wildemann, Annemieke Wagemans, Maaike Vreeburg, Diana Baralle, Nicola Foulds, Ingrid Scurr, Nicola Brunetti-Pierri, Johanna M van Hagen, Emilia K Bijlsma, Anna H Hakonen, Carolina Courage, David Genevieve, Lucile Pinson, Francesca Forzano, Charu Deshpande, Maria L Kluskens, Lindsey Welling, Astrid S Plomp, Els K Vanhoutte, Louisa Kalsner, Janna A Hol, Audrey Putoux, Johanna Lazier, Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea, Damien Lederer, Julie Fleischer, Mary O'Connor, Melissa Pauly, Georgia Vasileiou, André Reis, Catherine Kiraly-Borri, Arjan Bouman, Chris Barnett, Marjan Nezarati, Lauren Borch, Gea Beunders, Kübra Özcan, Stéphanie Miot, Catharina M L Volker-Touw, Koen L I van Gassen, Gerarda Cappuccio, Katrien Janssens, Nofar Mor, Inna Shomer, Dan Dominissini, Matthew L Tedder, Alison M Muir, Bekim Sadikovic, Han G Brunner, Lisenka E L M Vissers, Yoichi Shinkai, Tjitske Kleefstra
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. American journal of human genetics 111 (8) (2024)
Amy Nisselle, Bronwyn Terrill, Monika Janinski, Melissa Martyn, Helen Jordan, Nadia Kaunein, Sylvia Metcalfe, Clara Gaff
Ensuring best practice in genomics education: A theory- and empirically informed evaluation framework. American journal of human genetics 111 (8) (2024)
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Jessica Rzasa, Haley McConkey, Carolyn Lauzon-Young, Tugce B Balci, Alexandre M White-Brown, Melissa T Carter, Julie Richer, Christine M Armour, Sarah L Sawyer, Priya T Bhola, Matthew L Tedder, Cindy D Skinner, Iris A L M van Rooij, Romy van de Putte, Ivo de Blaauw, Rebekka M Koeck, Alexander Hoischen, Han Brunner, Masoud Zamani Esteki, Anna Pelet, Stanislas Lyonnet, Jeanne Amiel, Kym M Boycott, Bekim Sadikovic
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations. American journal of human genetics 111 (8) (2024)
Jonatan L Hervoso, Kofi Amoah, Jack Dodson, Mudra Choudhury, Arjun Bhattacharya, Giovanni Quinones-Valdez, Bogdan Pasaniuc, Xinshu Xiao
Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophrenia. American journal of human genetics 111 (8) (2024)
Jihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna H Poduri, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Martijn J de Groot, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. American journal of human genetics 111 (8) (2024)
Melissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, Daniel Antfolk, Qianqian Ming, Nicolette Valente, Grace Tzun-Wen Shaw, Christopher J Sottolano, Grace Matwijec, Vincent C Luca, Kathleen M Loomes, Ramakrishnan Rajagopalan, Tristan J Hayeck, Nancy B Spinner
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. American journal of human genetics 111 (8) (2024)
Amy Nisselle, Bronwyn Terrill, Monika Janinski, Melissa Martyn, Helen Jordan, Nadia Kaunein, Sylvia Metcalfe, Clara Gaff
Ensuring best practice in genomics education: A theory- and empirically informed evaluation framework. American journal of human genetics 111 (8) (2024)
Thomas Vanderstichele, Katie L Burnham, Niek de Klein, Manuel Tardaguila, Brittany Howell, Klaudia Walter, Kousik Kundu, Jonas Koeppel, Wanseon Lee, Alex Tokolyi, Elodie Persyn, Artika P Nath, Jonathan Marten, Slavé Petrovski, David J Roberts, Emanuele Di Angelantonio, John Danesh, Alix Berton, Adam Platt, Adam S Butterworth, Nicole Soranzo, Leopold Parts, Michael Inouye, Dirk S Paul, Emma E Davenport
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants. American journal of human genetics 111 (8) (2024)
Thomas Vanderstichele, Katie L Burnham, Niek de Klein, Manuel Tardaguila, Brittany Howell, Klaudia Walter, Kousik Kundu, Jonas Koeppel, Wanseon Lee, Alex Tokolyi, Elodie Persyn, Artika P Nath, Jonathan Marten, Slavé Petrovski, David J Roberts, Emanuele Di Angelantonio, John Danesh, Alix Berton, Adam Platt, Adam S Butterworth, Nicole Soranzo, Leopold Parts, Michael Inouye, Dirk S Paul, Emma E Davenport
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants. American journal of human genetics 111 (8) (2024)
Xianghong Hu, Mingxuan Cai, Jiashun Xiao, Xiaomeng Wan, Zhiwei Wang, Hongyu Zhao, Can Yang
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics. American journal of human genetics 111 (8) (2024)
Caroline Dias, Alisa Mo, Chunhui Cai, Liang Sun, Kristen Cabral, Catherine A Brownstein, Shira Rockowitz, Christopher A Walsh
Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain. American journal of human genetics 111 (8) (2024)
Melissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, Daniel Antfolk, Qianqian Ming, Nicolette Valente, Grace Tzun-Wen Shaw, Christopher J Sottolano, Grace Matwijec, Vincent C Luca, Kathleen M Loomes, Ramakrishnan Rajagopalan, Tristan J Hayeck, Nancy B Spinner
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. American journal of human genetics 111 (8) (2024)
Abhinav Adduri, Seyoung Kim
Ornaments for efficient allele-specific expression estimation with bias correction. American journal of human genetics 111 (8) (2024)
Joelle Mbatchou, Mary Sara McPeek
JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression. American journal of human genetics 111 (8) (2024)
Elizabeth G Plender, Timofey Prodanov, PingHsun Hsieh, Evangelos Nizamis, William T Harvey, Arvis Sulovari, Katherine M Munson, Eli J Kaufman, Wanda K O'Neal, Paul N Valdmanis, Tobias Marschall, Jesse D Bloom, Evan E Eichler
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B. American journal of human genetics 111 (8) (2024)
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Nicola Foulds, Elizabeth A Jones, Sarah Stewart, Pradeep Vasudevan, Tabib Dabir, Soo-Mi Park, Rosalyn Jewell, Natasha Brown, Lynn Pais, Sébastien Jacquemont, Khadijé Jizi, Conny M A van Ravenswaaij-Arts, Hester Y Kroes, Constance T R M Stumpel, Charlotte W Ockeloen, Illja J Diets, Mathilde Nizon, Marie Vincent, Benjamin Cogné, Thomas Besnard, Marios Kambouris, Emily Anderson, Elaine H Zackai, Carey McDougall, Sarah Donoghue, Anne O'Donnell-Luria, Zaheer Valivullah, Melanie O'Leary, Siddharth Srivastava, Heather Byers, Nancy Leslie, Sarah Mazzola, George E Tiller, Moin Vera, Joseph J Shen, Richard Boles, Vani Jain, Elise Brischoux-Boucher, Esther Kinning, Brittany N Simpson, Jacques C Giltay, Jacqueline Harris, Boris Keren, Anne Guimier, Pierre Marijon, Bert B A de Vries, Constance S Motter, Bryce A Mendelsohn, Samantha Coffino, Erica H Gerkes, Alexandra Afenjar, Paola Visconti, Elena Bacchelli, Elena Maestrini, Andree Delahaye-Duriez, Catherine Gooch, Yvonne Hendriks, Hieab Adams, Christel Thauvin-Robinet, Sarah Josephi-Taylor, Marta Bertoli, Michael J Parker, Julie W Rutten, Oana Caluseriu, Hilary J Vernon, Jonah Kaziyev, Jia Zhu, Jessica Kremen, Zoe Frazier, Hailey Osika, David Breault, Sreelata Nair, Suzanne M E Lewis, Fabiola Ceroni, Marta Viggiano, Annio Posar, Helen Brittain, Traficante Giovanna, Gori Giulia, Lina Quteineh, Russia Ha-Vinh Leuchter, Evelien Zonneveld-Huijssoon, Cecilia Mellado, Isabelle Marey, Alicia Coudert, Mariana Inés Aracena Alvarez, Milou G P Kennis, Arianne Bouman, Maian Roifman, María Inmaculada Amorós Rodríguez, Juan Dario Ortigoza-Escobar, Vivian Vernimmen, Margje Sinnema, Rolph Pfundt, Han G Brunner, Lisenka E L M Vissers, Tjitske Kleefstra, Rosanna Weksberg, Siddharth Banka
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American journal of human genetics 111 (8) (2024)
Joelle Mbatchou, Mary Sara McPeek
JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression. American journal of human genetics 111 (8) (2024)
Amy Nisselle, Bronwyn Terrill, Monika Janinski, Sylvia Metcalfe, Clara Gaff
Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations. American journal of human genetics 111 (8) (2024)
Melissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, Daniel Antfolk, Qianqian Ming, Nicolette Valente, Grace Tzun-Wen Shaw, Christopher J Sottolano, Grace Matwijec, Vincent C Luca, Kathleen M Loomes, Ramakrishnan Rajagopalan, Tristan J Hayeck, Nancy B Spinner
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. American journal of human genetics 111 (8) (2024)
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Nicola Foulds, Elizabeth A Jones, Sarah Stewart, Pradeep Vasudevan, Tabib Dabir, Soo-Mi Park, Rosalyn Jewell, Natasha Brown, Lynn Pais, Sébastien Jacquemont, Khadijé Jizi, Conny M A van Ravenswaaij-Arts, Hester Y Kroes, Constance T R M Stumpel, Charlotte W Ockeloen, Illja J Diets, Mathilde Nizon, Marie Vincent, Benjamin Cogné, Thomas Besnard, Marios Kambouris, Emily Anderson, Elaine H Zackai, Carey McDougall, Sarah Donoghue, Anne O'Donnell-Luria, Zaheer Valivullah, Melanie O'Leary, Siddharth Srivastava, Heather Byers, Nancy Leslie, Sarah Mazzola, George E Tiller, Moin Vera, Joseph J Shen, Richard Boles, Vani Jain, Elise Brischoux-Boucher, Esther Kinning, Brittany N Simpson, Jacques C Giltay, Jacqueline Harris, Boris Keren, Anne Guimier, Pierre Marijon, Bert B A de Vries, Constance S Motter, Bryce A Mendelsohn, Samantha Coffino, Erica H Gerkes, Alexandra Afenjar, Paola Visconti, Elena Bacchelli, Elena Maestrini, Andree Delahaye-Duriez, Catherine Gooch, Yvonne Hendriks, Hieab Adams, Christel Thauvin-Robinet, Sarah Josephi-Taylor, Marta Bertoli, Michael J Parker, Julie W Rutten, Oana Caluseriu, Hilary J Vernon, Jonah Kaziyev, Jia Zhu, Jessica Kremen, Zoe Frazier, Hailey Osika, David Breault, Sreelata Nair, Suzanne M E Lewis, Fabiola Ceroni, Marta Viggiano, Annio Posar, Helen Brittain, Traficante Giovanna, Gori Giulia, Lina Quteineh, Russia Ha-Vinh Leuchter, Evelien Zonneveld-Huijssoon, Cecilia Mellado, Isabelle Marey, Alicia Coudert, Mariana Inés Aracena Alvarez, Milou G P Kennis, Arianne Bouman, Maian Roifman, María Inmaculada Amorós Rodríguez, Juan Dario Ortigoza-Escobar, Vivian Vernimmen, Margje Sinnema, Rolph Pfundt, Han G Brunner, Lisenka E L M Vissers, Tjitske Kleefstra, Rosanna Weksberg, Siddharth Banka
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American journal of human genetics 111 (8) (2024)
Jihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna H Poduri, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Martijn J de Groot, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. American journal of human genetics 111 (8) (2024)
Caroline Dias, Alisa Mo, Chunhui Cai, Liang Sun, Kristen Cabral, Catherine A Brownstein, Shira Rockowitz, Christopher A Walsh
Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain. American journal of human genetics 111 (8) (2024)
Abhinav Adduri, Seyoung Kim
Ornaments for efficient allele-specific expression estimation with bias correction. American journal of human genetics 111 (8) (2024)
Abhinav Adduri, Seyoung Kim
Ornaments for efficient allele-specific expression estimation with bias correction. American journal of human genetics 111 (8) (2024)
Yihao Lu, Ke Xu, Nathaniel Maydanchik, Bowei Kang, Brandon L Pierce, Fan Yang, Lin S Chen
An integrative multi-context Mendelian randomization method for identifying risk genes across human tissues. American journal of human genetics 111 (8) (2024)
Joelle Mbatchou, Mary Sara McPeek
JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression. American journal of human genetics 111 (8) (2024)
Huiling Liao, Haoran Xue, Wei Pan
Inferring causal direction between two traits using R 2 with application to transcriptome-wide association studies. American journal of human genetics 111 (8) (2024)
Amy Nisselle, Bronwyn Terrill, Monika Janinski, Sylvia Metcalfe, Clara Gaff
Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations. American journal of human genetics 111 (8) (2024)
Elizabeth G Plender, Timofey Prodanov, PingHsun Hsieh, Evangelos Nizamis, William T Harvey, Arvis Sulovari, Katherine M Munson, Eli J Kaufman, Wanda K O'Neal, Paul N Valdmanis, Tobias Marschall, Jesse D Bloom, Evan E Eichler
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B. American journal of human genetics 111 (8) (2024)
Xavier Bledsoe, Eric R Gamazon
A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health. American journal of human genetics 111 (8) (2024)
Jihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna H Poduri, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Martijn J de Groot, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. American journal of human genetics 111 (8) (2024)
Huiling Liao, Haoran Xue, Wei Pan
Inferring causal direction between two traits using R 2 with application to transcriptome-wide association studies. American journal of human genetics 111 (8) (2024)
Yihao Lu, Ke Xu, Nathaniel Maydanchik, Bowei Kang, Brandon L Pierce, Fan Yang, Lin S Chen
An integrative multi-context Mendelian randomization method for identifying risk genes across human tissues. American journal of human genetics 111 (8) (2024)
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Bert B A de Vries, Martina Ruiterkamp-Versteeg, Nicole de Leeuw, Charlotte W Ockeloen, Rolph Pfundt, Elke de Boer, Joost Kummeling, Bregje van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Maria Irene Valenzuela, Siddharth Srivastava, Zoe Frazier, Isabelle Maystadt, Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian, Gijs W E Santen, Kay Metcalfe, Soo-Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai, Daniel Weisberg, Gertrud Strobl-Wildemann, Annemieke Wagemans, Maaike Vreeburg, Diana Baralle, Nicola Foulds, Ingrid Scurr, Nicola Brunetti-Pierri, Johanna M van Hagen, Emilia K Bijlsma, Anna H Hakonen, Carolina Courage, David Genevieve, Lucile Pinson, Francesca Forzano, Charu Deshpande, Maria L Kluskens, Lindsey Welling, Astrid S Plomp, Els K Vanhoutte, Louisa Kalsner, Janna A Hol, Audrey Putoux, Johanna Lazier, Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea, Damien Lederer, Julie Fleischer, Mary O'Connor, Melissa Pauly, Georgia Vasileiou, André Reis, Catherine Kiraly-Borri, Arjan Bouman, Chris Barnett, Marjan Nezarati, Lauren Borch, Gea Beunders, Kübra Özcan, Stéphanie Miot, Catharina M L Volker-Touw, Koen L I van Gassen, Gerarda Cappuccio, Katrien Janssens, Nofar Mor, Inna Shomer, Dan Dominissini, Matthew L Tedder, Alison M Muir, Bekim Sadikovic, Han G Brunner, Lisenka E L M Vissers, Yoichi Shinkai, Tjitske Kleefstra
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. American journal of human genetics 111 (8) (2024)
Amy Nisselle, Bronwyn Terrill, Monika Janinski, Sylvia Metcalfe, Clara Gaff
Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations. American journal of human genetics 111 (8) (2024)
Xavier Bledsoe, Eric R Gamazon
A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health. American journal of human genetics 111 (8) (2024)
Thomas Vanderstichele, Katie L Burnham, Niek de Klein, Manuel Tardaguila, Brittany Howell, Klaudia Walter, Kousik Kundu, Jonas Koeppel, Wanseon Lee, Alex Tokolyi, Elodie Persyn, Artika P Nath, Jonathan Marten, Slavé Petrovski, David J Roberts, Emanuele Di Angelantonio, John Danesh, Alix Berton, Adam Platt, Adam S Butterworth, Nicole Soranzo, Leopold Parts, Michael Inouye, Dirk S Paul, Emma E Davenport
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants. American journal of human genetics 111 (8) (2024)
Huiling Liao, Haoran Xue, Wei Pan
Inferring causal direction between two traits using R 2 with application to transcriptome-wide association studies. American journal of human genetics 111 (8) (2024)
Emmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, Alison Gardner, Mark A Corbett, Tarin Ritchie, Thessa Kroes, Clare L van Eyk, Ingrid E Scheffer, Michael S Hildebrand, Jean-Vianney Barnier, Véronique Rousseau, David Genevieve, Virginie Haushalter, Amélie Piton, Anne-Sophie Denommé-Pichon, Ange-Line Bruel, Sophie Nambot, Bertrand Isidor, John Grigg, Tina Gonzalez, Sondhya Ghedia, Rhett G Marchant, Adam Bournazos, Wui-Kwan Wong, Richard I Webster, Frances J Evesson, Kristi J Jones, null null, Sandra T Cooper, Ryan Lister, Jozef Gecz, Lachlan A Jolly
RNA variant assessment using transactivation and transdifferentiation. American journal of human genetics 111 (8) (2024)

volume 111, number 9, 2024

Elyse Kozlowski, Margaret M Farrell, Erika J Faust, C Scott Gallagher, Grant Jones, Erica Landis, Tamara R Litwin, Chris Lunt, Sana H Mian, Stephen C Mockrin, Anjene Musick, Theresa Patten, Janeth Sanchez, Sheri Schully, Geoffrey S Ginsburg
All of Us Research Program year in review: 2023-2024. American journal of human genetics 111 (9) (2024)
Courtney Thaxton, Leslie G Biesecker, Marina DiStefano, Melissa Haendel, Ada Hamosh, Emma Owens, Sharon E Plon, Heidi L Rehm, Jonathan S Berg
Implementation of a dyadic nomenclature for monogenic diseases. American journal of human genetics 111 (9) (2024)
Elyse Kozlowski, Geoffrey S Ginsburg, Bruce R Korf
A new annual feature of AJHG: All of Us Research Program year in review. American journal of human genetics 111 (9) (2024)