Human genetics

Keyphrases

Publications

volume 143, number 5, 2024

Sophia Kerns, Katherine A Owen, Dana Schwalbe, Amrie C Grammer, Peter E Lipsky
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci. Human genetics 143 (5) (2024)
Brett M Colbert, Cris Lanting, Molly Smeal, Susan Blanton, Derek M Dykxhoorn, Pei-Ciao Tang, Richard L Getchell, Hedwig Velde, Mirthe Fehrmann, Ryan Thorpe, Prem Chapagain, Heidy Elkhaligy, Hannie Kremer, Helger Yntema, Lonneke Haer-Wigman, Shelby Redfield, Tieqi Sun, Saskia Bruijn, Astrid Plomp, Thadé Goderie, Jiddeke van de Kamp, Rolien H Free, Jolien Klein Wassink-Ruiter, Josine Widdershoven, Els Vanhoutte, Liselotte Rotteveel, Marjolein Kriek, Marieke van Dooren, Lies Hoefsloot, Heriette H W de Gier, null null, Amanda Schaefer, Diana Kolbe, Hela Azaiez, Grace Rabie, Armal Aburayyan, Mariana Kawas, Moien Kanaan, Jourdan Holder, Shin-Ichi Usami, Zhengyi Chen, Pu Dai, Jeffrey Holt, Rick Nelson, Byung Yoon Choi, Eliot Shearer, Richard J H Smith, Ronald Pennings, Xue Zhong Liu
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis. Human genetics 143 (5) (2024)
Sophia Kerns, Katherine A Owen, Dana Schwalbe, Amrie C Grammer, Peter E Lipsky
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci. Human genetics 143 (5) (2024)
Brett M Colbert, Cris Lanting, Molly Smeal, Susan Blanton, Derek M Dykxhoorn, Pei-Ciao Tang, Richard L Getchell, Hedwig Velde, Mirthe Fehrmann, Ryan Thorpe, Prem Chapagain, Heidy Elkhaligy, Hannie Kremer, Helger Yntema, Lonneke Haer-Wigman, Shelby Redfield, Tieqi Sun, Saskia Bruijn, Astrid Plomp, Thadé Goderie, Jiddeke van de Kamp, Rolien H Free, Jolien Klein Wassink-Ruiter, Josine Widdershoven, Els Vanhoutte, Liselotte Rotteveel, Marjolein Kriek, Marieke van Dooren, Lies Hoefsloot, Heriette H W de Gier, null null, Amanda Schaefer, Diana Kolbe, Hela Azaiez, Grace Rabie, Armal Aburayyan, Mariana Kawas, Moien Kanaan, Jourdan Holder, Shin-Ichi Usami, Zhengyi Chen, Pu Dai, Jeffrey Holt, Rick Nelson, Byung Yoon Choi, Eliot Shearer, Richard J H Smith, Ronald Pennings, Xue Zhong Liu
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis. Human genetics 143 (5) (2024)
Cristian Riccio, Max L Jansen, Linlin Guo, Andreas Ziegler
Variant effect predictors: a systematic review and practical guide. Human genetics 143 (5) (2024)
Brett M Colbert, Cris Lanting, Molly Smeal, Susan Blanton, Derek M Dykxhoorn, Pei-Ciao Tang, Richard L Getchell, Hedwig Velde, Mirthe Fehrmann, Ryan Thorpe, Prem Chapagain, Heidy Elkhaligy, Hannie Kremer, Helger Yntema, Lonneke Haer-Wigman, Shelby Redfield, Tieqi Sun, Saskia Bruijn, Astrid Plomp, Thadé Goderie, Jiddeke van de Kamp, Rolien H Free, Jolien Klein Wassink-Ruiter, Josine Widdershoven, Els Vanhoutte, Liselotte Rotteveel, Marjolein Kriek, Marieke van Dooren, Lies Hoefsloot, Heriette H W de Gier, null null, Amanda Schaefer, Diana Kolbe, Hela Azaiez, Grace Rabie, Armal Aburayyan, Mariana Kawas, Moien Kanaan, Jourdan Holder, Shin-Ichi Usami, Zhengyi Chen, Pu Dai, Jeffrey Holt, Rick Nelson, Byung Yoon Choi, Eliot Shearer, Richard J H Smith, Ronald Pennings, Xue Zhong Liu
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis. Human genetics 143 (5) (2024)
Brett M Colbert, Cris Lanting, Molly Smeal, Susan Blanton, Derek M Dykxhoorn, Pei-Ciao Tang, Richard L Getchell, Hedwig Velde, Mirthe Fehrmann, Ryan Thorpe, Prem Chapagain, Heidy Elkhaligy, Hannie Kremer, Helger Yntema, Lonneke Haer-Wigman, Shelby Redfield, Tieqi Sun, Saskia Bruijn, Astrid Plomp, Thadé Goderie, Jiddeke van de Kamp, Rolien H Free, Jolien Klein Wassink-Ruiter, Josine Widdershoven, Els Vanhoutte, Liselotte Rotteveel, Marjolein Kriek, Marieke van Dooren, Lies Hoefsloot, Heriette H W de Gier, null null, Amanda Schaefer, Diana Kolbe, Hela Azaiez, Grace Rabie, Armal Aburayyan, Mariana Kawas, Moien Kanaan, Jourdan Holder, Shin-Ichi Usami, Zhengyi Chen, Pu Dai, Jeffrey Holt, Rick Nelson, Byung Yoon Choi, Eliot Shearer, Richard J H Smith, Ronald Pennings, Xue Zhong Liu
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis. Human genetics 143 (5) (2024)
Cristian Riccio, Max L Jansen, Linlin Guo, Andreas Ziegler
Variant effect predictors: a systematic review and practical guide. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Brett M Colbert, Cris Lanting, Molly Smeal, Susan Blanton, Derek M Dykxhoorn, Pei-Ciao Tang, Richard L Getchell, Hedwig Velde, Mirthe Fehrmann, Ryan Thorpe, Prem Chapagain, Heidy Elkhaligy, Hannie Kremer, Helger Yntema, Lonneke Haer-Wigman, Shelby Redfield, Tieqi Sun, Saskia Bruijn, Astrid Plomp, Thadé Goderie, Jiddeke van de Kamp, Rolien H Free, Jolien Klein Wassink-Ruiter, Josine Widdershoven, Els Vanhoutte, Liselotte Rotteveel, Marjolein Kriek, Marieke van Dooren, Lies Hoefsloot, Heriette H W de Gier, null null, Amanda Schaefer, Diana Kolbe, Hela Azaiez, Grace Rabie, Armal Aburayyan, Mariana Kawas, Moien Kanaan, Jourdan Holder, Shin-Ichi Usami, Zhengyi Chen, Pu Dai, Jeffrey Holt, Rick Nelson, Byung Yoon Choi, Eliot Shearer, Richard J H Smith, Ronald Pennings, Xue Zhong Liu
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis. Human genetics 143 (5) (2024)

volume 143, number 6, 2024

Elisabetta Di Fede, Antonella Lettieri, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Chiara Parodi, Elisa Adele Colombo, Paolo Grazioli, Federica Natacci, Paola Marchisio, Lidia Pezzani, Grazia Fazio, Donatella Milani, Valentina Massa, Cristina Gervasini
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies. Human genetics 143 (6) (2024)
Lama AlAbdi, Teresa Neuhann, Eva-Christina Prott, Ulrike Schön, Firdous Abdulwahab, Eissa Faqeih, Fowzan S Alkuraya
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome. Human genetics 143 (6) (2024)
Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Chiara Castronovo, Roberta Bordoni, Cristina Battaglia, Veronica Saletti, Valeria Ranzani, Beatrice Bodega, Marica Eoli, Federica Natacci, Paola Riva
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. Human genetics 143 (6) (2024)
Lama AlAbdi, Teresa Neuhann, Eva-Christina Prott, Ulrike Schön, Firdous Abdulwahab, Eissa Faqeih, Fowzan S Alkuraya
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome. Human genetics 143 (6) (2024)
Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Chiara Castronovo, Roberta Bordoni, Cristina Battaglia, Veronica Saletti, Valeria Ranzani, Beatrice Bodega, Marica Eoli, Federica Natacci, Paola Riva
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. Human genetics 143 (6) (2024)
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Saskia M Maas, Lisenka E L M Vissers, Bert B A de Vries, Rolph Pfundt, Mariet W Elting, Johanna M van Hagen, Nienke E Verbeek, Marjolijn C J Jongmans, Phillis Lakeman, Lynne Rumping, Danielle G M Bosch, Antonio Vitobello, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Aurore Garde, Marjolaine Willems, David Genevieve, Gaël Nicolas, Tiffany Busa, Annick Toutain, Marion Gérard, Varoona Bizaoui, Bertrand Isidor, Giuseppe Merla, Maria Accadia, Charles E Schwartz, Katrin Ounap, Mariëtte J V Hoffer, Marjan M Nezarati, Marie-José H van den Boogaard, Matthew L Tedder, Curtis Rogers, Alfredo Brusco, Giovanni B Ferrero, Marta Spodenkiewicz, Richard Sidlow, Alessandro Mussa, Slavica Trajkova, Emma McCann, Henry J Mroczkowski, Sandra Jansen, Laura Donker-Kaat, Floor A M Duijkers, Kyra E Stuurman, Marcel M A M Mannens, Mariëlle Alders, Peter Henneman, Susan M White, Bekim Sadikovic, Mieke M van Haelst
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. Human genetics 143 (6) (2024)
Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Chiara Castronovo, Roberta Bordoni, Cristina Battaglia, Veronica Saletti, Valeria Ranzani, Beatrice Bodega, Marica Eoli, Federica Natacci, Paola Riva
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. Human genetics 143 (6) (2024)
Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Chiara Castronovo, Roberta Bordoni, Cristina Battaglia, Veronica Saletti, Valeria Ranzani, Beatrice Bodega, Marica Eoli, Federica Natacci, Paola Riva
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. Human genetics 143 (6) (2024)
Elisabetta Di Fede, Antonella Lettieri, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Chiara Parodi, Elisa Adele Colombo, Paolo Grazioli, Federica Natacci, Paola Marchisio, Lidia Pezzani, Grazia Fazio, Donatella Milani, Valentina Massa, Cristina Gervasini
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies. Human genetics 143 (6) (2024)
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Saskia M Maas, Lisenka E L M Vissers, Bert B A de Vries, Rolph Pfundt, Mariet W Elting, Johanna M van Hagen, Nienke E Verbeek, Marjolijn C J Jongmans, Phillis Lakeman, Lynne Rumping, Danielle G M Bosch, Antonio Vitobello, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Aurore Garde, Marjolaine Willems, David Genevieve, Gaël Nicolas, Tiffany Busa, Annick Toutain, Marion Gérard, Varoona Bizaoui, Bertrand Isidor, Giuseppe Merla, Maria Accadia, Charles E Schwartz, Katrin Ounap, Mariëtte J V Hoffer, Marjan M Nezarati, Marie-José H van den Boogaard, Matthew L Tedder, Curtis Rogers, Alfredo Brusco, Giovanni B Ferrero, Marta Spodenkiewicz, Richard Sidlow, Alessandro Mussa, Slavica Trajkova, Emma McCann, Henry J Mroczkowski, Sandra Jansen, Laura Donker-Kaat, Floor A M Duijkers, Kyra E Stuurman, Marcel M A M Mannens, Mariëlle Alders, Peter Henneman, Susan M White, Bekim Sadikovic, Mieke M van Haelst
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. Human genetics 143 (6) (2024)
Elisabetta Di Fede, Antonella Lettieri, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Chiara Parodi, Elisa Adele Colombo, Paolo Grazioli, Federica Natacci, Paola Marchisio, Lidia Pezzani, Grazia Fazio, Donatella Milani, Valentina Massa, Cristina Gervasini
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies. Human genetics 143 (6) (2024)
Elisabetta Di Fede, Antonella Lettieri, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Chiara Parodi, Elisa Adele Colombo, Paolo Grazioli, Federica Natacci, Paola Marchisio, Lidia Pezzani, Grazia Fazio, Donatella Milani, Valentina Massa, Cristina Gervasini
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies. Human genetics 143 (6) (2024)
Meng-Na Zhang
STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score. Human genetics 143 (6) (2024)
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Saskia M Maas, Lisenka E L M Vissers, Bert B A de Vries, Rolph Pfundt, Mariet W Elting, Johanna M van Hagen, Nienke E Verbeek, Marjolijn C J Jongmans, Phillis Lakeman, Lynne Rumping, Danielle G M Bosch, Antonio Vitobello, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Aurore Garde, Marjolaine Willems, David Genevieve, Gaël Nicolas, Tiffany Busa, Annick Toutain, Marion Gérard, Varoona Bizaoui, Bertrand Isidor, Giuseppe Merla, Maria Accadia, Charles E Schwartz, Katrin Ounap, Mariëtte J V Hoffer, Marjan M Nezarati, Marie-José H van den Boogaard, Matthew L Tedder, Curtis Rogers, Alfredo Brusco, Giovanni B Ferrero, Marta Spodenkiewicz, Richard Sidlow, Alessandro Mussa, Slavica Trajkova, Emma McCann, Henry J Mroczkowski, Sandra Jansen, Laura Donker-Kaat, Floor A M Duijkers, Kyra E Stuurman, Marcel M A M Mannens, Mariëlle Alders, Peter Henneman, Susan M White, Bekim Sadikovic, Mieke M van Haelst
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. Human genetics 143 (6) (2024)

volume 143, number 7, 2024

Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics 143 (7) (2024)
Rebecca E Andersen
Long non-coding RNAs: recent insights, remaining challenges, and exciting new directions. Human genetics 143 (7) (2024)
Marcos E Jaso-Vera, Shohei Takaoka, Ishika Patel, Xiangbo Ruan
Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia. Human genetics 143 (7) (2024)
Khusali Gupta, Jan T Czerminski, Jeanne B Lawrence
Trisomy silencing by XIST: translational prospects and challenges. Human genetics 143 (7) (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics 143 (7) (2024)
Weiwei Shi, Jiahui Song, January Mikolaj Weiner, Avneesh Chopra, Henrik Dommisch, Dieter Beule, Arne S Schaefer
lncRNA CDKN2B-AS1 regulates collagen expression. Human genetics 143 (7) (2024)
Khusali Gupta, Jan T Czerminski, Jeanne B Lawrence
Trisomy silencing by XIST: translational prospects and challenges. Human genetics 143 (7) (2024)
Weiwei Shi, Jiahui Song, January Mikolaj Weiner, Avneesh Chopra, Henrik Dommisch, Dieter Beule, Arne S Schaefer
lncRNA CDKN2B-AS1 regulates collagen expression. Human genetics 143 (7) (2024)
Khusali Gupta, Jan T Czerminski, Jeanne B Lawrence
Trisomy silencing by XIST: translational prospects and challenges. Human genetics 143 (7) (2024)
Weiwei Shi, Jiahui Song, January Mikolaj Weiner, Avneesh Chopra, Henrik Dommisch, Dieter Beule, Arne S Schaefer
lncRNA CDKN2B-AS1 regulates collagen expression. Human genetics 143 (7) (2024)
Khusali Gupta, Jan T Czerminski, Jeanne B Lawrence
Trisomy silencing by XIST: translational prospects and challenges. Human genetics 143 (7) (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics 143 (7) (2024)

volume 143, number 8, 2024

Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti, Julia Hentschel, Isabell Schumann
Automatized detection of uniparental disomies in a large cohort. Human genetics 143 (8) (2024)
Elisabeth Bosch, Esther Güse, Philipp Kirchner, Andreas Winterpacht, Mona Walther, Marielle Alders, Jennifer Kerkhof, Arif B Ekici, Heinrich Sticht, Bekim Sadikovic, André Reis, Georgia Vasileiou
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. Human genetics 143 (8) (2024)
Sen Suo, Cheng Fang, Wenting Liu, Qingan Liu, Zhuobo Zhang, Junlei Chang, Guozhong Li
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells. Human genetics 143 (8) (2024)
Samskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, Melanie R Silvis, Kirsty Jamieson, Andrew Keyser, Paola Alejandra Correa Nunez, John M Nicoludis, Toby Manders, Laure Fresard, Yuya Kobayashi, Carlos L Araya, Swaroop Aradhya, Britt Johnson, Keith Nykamp, Jason A Reuter
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification. Human genetics 143 (8) (2024)
Yun Xiao, Lei Chen, Kaifan Xu, Meijuan Zhou, Yuechen Han, Jianfen Luo, Yu Ai, Mingming Wang, Yu Jin, Ruifeng Qiao, Shuhui Kong, Zhaomin Fan, Lei Xu, Haibo Wang
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss. Human genetics 143 (8) (2024)
Yun Xiao, Lei Chen, Kaifan Xu, Meijuan Zhou, Yuechen Han, Jianfen Luo, Yu Ai, Mingming Wang, Yu Jin, Ruifeng Qiao, Shuhui Kong, Zhaomin Fan, Lei Xu, Haibo Wang
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss. Human genetics 143 (8) (2024)
Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti, Julia Hentschel, Isabell Schumann
Automatized detection of uniparental disomies in a large cohort. Human genetics 143 (8) (2024)
Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti, Julia Hentschel, Isabell Schumann
Automatized detection of uniparental disomies in a large cohort. Human genetics 143 (8) (2024)
Elisabeth Bosch, Esther Güse, Philipp Kirchner, Andreas Winterpacht, Mona Walther, Marielle Alders, Jennifer Kerkhof, Arif B Ekici, Heinrich Sticht, Bekim Sadikovic, André Reis, Georgia Vasileiou
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. Human genetics 143 (8) (2024)
Yun Xiao, Lei Chen, Kaifan Xu, Meijuan Zhou, Yuechen Han, Jianfen Luo, Yu Ai, Mingming Wang, Yu Jin, Ruifeng Qiao, Shuhui Kong, Zhaomin Fan, Lei Xu, Haibo Wang
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss. Human genetics 143 (8) (2024)
Samskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, Melanie R Silvis, Kirsty Jamieson, Andrew Keyser, Paola Alejandra Correa Nunez, John M Nicoludis, Toby Manders, Laure Fresard, Yuya Kobayashi, Carlos L Araya, Swaroop Aradhya, Britt Johnson, Keith Nykamp, Jason A Reuter
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification. Human genetics 143 (8) (2024)
Sen Suo, Cheng Fang, Wenting Liu, Qingan Liu, Zhuobo Zhang, Junlei Chang, Guozhong Li
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells. Human genetics 143 (8) (2024)
Elisabeth Bosch, Esther Güse, Philipp Kirchner, Andreas Winterpacht, Mona Walther, Marielle Alders, Jennifer Kerkhof, Arif B Ekici, Heinrich Sticht, Bekim Sadikovic, André Reis, Georgia Vasileiou
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. Human genetics 143 (8) (2024)
Samskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, Melanie R Silvis, Kirsty Jamieson, Andrew Keyser, Paola Alejandra Correa Nunez, John M Nicoludis, Toby Manders, Laure Fresard, Yuya Kobayashi, Carlos L Araya, Swaroop Aradhya, Britt Johnson, Keith Nykamp, Jason A Reuter
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification. Human genetics 143 (8) (2024)