Human genetics

Keyphrases

Publications

2023

Salvatore D'Antona, Gita A Pathak, Dora Koller, Danilo Porro, Claudia Cava, Renato Polimanti
Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis. Human genetics (2023)
Jacqueline R Harris, Christine W Gao, Jacquelyn F Britton, Carolyn D Applegate, Hans T Bjornsson, Jill A Fahrner
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here? Human genetics (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Human genetics (2023)
Kaili Fan, Edith L Pfister, Nishigandha Phalke
Toward a comprehensive catalog of regulatory elements. Human genetics (2023)
Jacqueline R Harris, Christine W Gao, Jacquelyn F Britton, Carolyn D Applegate, Hans T Bjornsson, Jill A Fahrner
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here? Human genetics (2023)
Salma Shickh, Agnes Sebastian, Marc Clausen, Chloe Mighton, Christine Elser, Andrea Eisen, Larissa Waldman, Seema Panchal, Thomas Ward, June C Carroll, Emily Glogowski, Kasmintan A Schrader, Jordan Lerner-Ellis, Raymond H Kim, Kevin E Thorpe, Yvonne Bombard, null null
Great expectations: patients' preferences for clinically significant results from genomic sequencing. Human genetics (2023)
Ching-Shiang Chi, Chi-Ren Tsai, Hsiu-Fen Lee
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation. Human genetics (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Z Hayeems, Yvonne Bombard, null null
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery. Human genetics (2023)
Catherina T Pinnaro, Chloe B Beck, Heather J Major, Benjamin W Darbro
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome. Human genetics (2023)
Fevronia Kiparissi, Antonia Dastamani, Liina Palm, Aline Azabdaftari, Luis Campos, Edward Gaynor, Stephanie Grünewald, Hans Holm Uhlig, Robert Kleta, Detlef Böckenhauer, Kelsey D J Jones
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. Human genetics (2023)
Dora Koller, Antonio Benítez-Burraco, Renato Polimanti
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders. Human genetics (2023)
Kelly E Regan-Fendt, Kosuke Izumi
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins. Human genetics (2023)
Hanan E Shamseldin, Nada Derar, Hamad Alzaidan, Naif AlHathal, Abdullah Alfalah, Firdous Abdulwahab, Tariq Alzaid, Salim Alkeraye, Saud A Alobaida, Fowzan Sami Alkuraya
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis. Human genetics (2023)
John Lantos, Annie Janvier, Keith Barrington
Reply to Letter about whole genome sequencing in newborns. Human genetics (2023)
Salvatore D'Antona, Gita A Pathak, Dora Koller, Danilo Porro, Claudia Cava, Renato Polimanti
Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis. Human genetics (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Ping Xu, Zhuolin Chen, Jianchi Ma, Yongli Shan, Yuan Wang, Bingbing Xie, Dandan Zheng, Fuying Guo, Xiaojing Song, Guanjie Gao, Ke Ye, Yizhi Liu, Guangjin Pan, Bin Jiang, Fuhua Peng, Xiufeng Zhong
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function. Human genetics (2023)
Qingxia Meng, Binbin Shao, Dan Zhao, Xu Fu, Jiaxiong Wang, Hong Li, Qiao Zhou, Tingting Gao
Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans. Human genetics (2023)
Xueming Yao, Hongxi Yang, Han Han, Xuejing Kou, Yuhan Jiang, Menghan Luo, Yao Zhou, Jianhua Wang, Xutong Fan, Xiaohong Wang, Mulin Jun Li, Hua Yan
Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders. Human genetics (2023)
Deborah Jans, Isabelle Cleynen
The genetics of non-monogenic IBD. Human genetics (2023)

volume 142, number 2, 2023

John Lantos, Annie Janvier, Keith Barrington
Reply to Letter about whole genome sequencing in newborns. Human genetics 142 (2) (2023)
John Lantos, Annie Janvier, Keith Barrington
Reply to Letter about whole genome sequencing in newborns. Human genetics 142 (2) (2023)
John Lantos, Annie Janvier, Keith Barrington
Reply to Letter about whole genome sequencing in newborns. Human genetics 142 (2) (2023)

volume 142, number 3, 2023

Qiong Chen, Xuexi Yang, Weilun Huang, Ziyan Li, Mingli Xu, Yang Li, Fangchao Tao, Zhengyi Huang, Xu Yang, Xuefeng Zhao, Linxiao Jiang, Wanjun Zhou
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations. Human genetics 142 (3) (2023)
Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Z Hayeems, Yvonne Bombard, null null
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery. Human genetics 142 (3) (2023)
Tamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Delfien Syx, Sofie Symoens, Yannick Gansemans, Filip Van Nieuwerburgh, Sujatha Jagadeesh, Jayarekha Raja, Fransiska Malfait, Paul J Coucke, Adelbert De Clercq, Andy Willaert
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract. Human genetics 142 (3) (2023)
Tamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Delfien Syx, Sofie Symoens, Yannick Gansemans, Filip Van Nieuwerburgh, Sujatha Jagadeesh, Jayarekha Raja, Fransiska Malfait, Paul J Coucke, Adelbert De Clercq, Andy Willaert
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract. Human genetics 142 (3) (2023)
Tamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Delfien Syx, Sofie Symoens, Yannick Gansemans, Filip Van Nieuwerburgh, Sujatha Jagadeesh, Jayarekha Raja, Fransiska Malfait, Paul J Coucke, Adelbert De Clercq, Andy Willaert
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract. Human genetics 142 (3) (2023)
Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Z Hayeems, Yvonne Bombard, null null
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery. Human genetics 142 (3) (2023)
Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Z Hayeems, Yvonne Bombard, null null
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery. Human genetics 142 (3) (2023)
Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Z Hayeems, Yvonne Bombard, null null
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery. Human genetics 142 (3) (2023)
Qiong Chen, Xuexi Yang, Weilun Huang, Ziyan Li, Mingli Xu, Yang Li, Fangchao Tao, Zhengyi Huang, Xu Yang, Xuefeng Zhao, Linxiao Jiang, Wanjun Zhou
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations. Human genetics 142 (3) (2023)
Tamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Delfien Syx, Sofie Symoens, Yannick Gansemans, Filip Van Nieuwerburgh, Sujatha Jagadeesh, Jayarekha Raja, Fransiska Malfait, Paul J Coucke, Adelbert De Clercq, Andy Willaert
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract. Human genetics 142 (3) (2023)
Qiong Chen, Xuexi Yang, Weilun Huang, Ziyan Li, Mingli Xu, Yang Li, Fangchao Tao, Zhengyi Huang, Xu Yang, Xuefeng Zhao, Linxiao Jiang, Wanjun Zhou
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations. Human genetics 142 (3) (2023)

volume 142, number 5, 2023

Alina Kurolap, Hagit Baris Feldman
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders. Human genetics 142 (5) (2023)

volume 142, number 6, 2023

Ruibin Huang, Fang Fu, Hang Zhou, Lu Zhang, Tingying Lei, Ken Cheng, Shujuan Yan, Fei Guo, You Wang, Chunling Ma, Ru Li, Qiuxia Yu, Qiong Deng, Lushan Li, Xin Yang, Jin Han, Dongzhi Li, Can Liao
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing. Human genetics 142 (6) (2023)
Ruibin Huang, Fang Fu, Hang Zhou, Lu Zhang, Tingying Lei, Ken Cheng, Shujuan Yan, Fei Guo, You Wang, Chunling Ma, Ru Li, Qiuxia Yu, Qiong Deng, Lushan Li, Xin Yang, Jin Han, Dongzhi Li, Can Liao
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing. Human genetics 142 (6) (2023)
John Murray Topp Hunt, Christopher Allan Samson, Alex du Rand, Hilary M Sheppard
Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells. Human genetics 142 (6) (2023)
Michael J Schnieders, Rose A Gogal, A Monique Weaver, Amanda M Schaefer, Robert J Marini, Hela Azaiez, Diana L Kolbe, Donghong Wang, Amy E Weaver, Thomas L Casavant, Terry A Braun, Richard J H Smith, Michael J Schnieders
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome. Human genetics 142 (6) (2023)
Michael J Schnieders, Rose A Gogal, A Monique Weaver, Amanda M Schaefer, Robert J Marini, Hela Azaiez, Diana L Kolbe, Donghong Wang, Amy E Weaver, Thomas L Casavant, Terry A Braun, Richard J H Smith, Michael J Schnieders
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome. Human genetics 142 (6) (2023)
Michael J Schnieders, Rose A Gogal, A Monique Weaver, Amanda M Schaefer, Robert J Marini, Hela Azaiez, Diana L Kolbe, Donghong Wang, Amy E Weaver, Thomas L Casavant, Terry A Braun, Richard J H Smith, Michael J Schnieders
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome. Human genetics 142 (6) (2023)
John Murray Topp Hunt, Christopher Allan Samson, Alex du Rand, Hilary M Sheppard
Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells. Human genetics 142 (6) (2023)
Ruibin Huang, Fang Fu, Hang Zhou, Lu Zhang, Tingying Lei, Ken Cheng, Shujuan Yan, Fei Guo, You Wang, Chunling Ma, Ru Li, Qiuxia Yu, Qiong Deng, Lushan Li, Xin Yang, Jin Han, Dongzhi Li, Can Liao
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing. Human genetics 142 (6) (2023)
Xinglun Dang, Meng Song, Luxian Lv, Yongfeng Yang, Xiong-Jian Luo
Proteome-wide Mendelian randomization reveals the causal effects of immune-related plasma proteins on psychiatric disorders. Human genetics 142 (6) (2023)
John Murray Topp Hunt, Christopher Allan Samson, Alex du Rand, Hilary M Sheppard
Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells. Human genetics 142 (6) (2023)
Michael J Schnieders, Rose A Gogal, A Monique Weaver, Amanda M Schaefer, Robert J Marini, Hela Azaiez, Diana L Kolbe, Donghong Wang, Amy E Weaver, Thomas L Casavant, Terry A Braun, Richard J H Smith, Michael J Schnieders
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome. Human genetics 142 (6) (2023)
Xinglun Dang, Meng Song, Luxian Lv, Yongfeng Yang, Xiong-Jian Luo
Proteome-wide Mendelian randomization reveals the causal effects of immune-related plasma proteins on psychiatric disorders. Human genetics 142 (6) (2023)
Xinglun Dang, Meng Song, Luxian Lv, Yongfeng Yang, Xiong-Jian Luo
Proteome-wide Mendelian randomization reveals the causal effects of immune-related plasma proteins on psychiatric disorders. Human genetics 142 (6) (2023)