American journal of human genetics

Keyphrases

Publications

volume 110, number 3, 2023

Nicola Whiffin
2022 Curt Stern Award introduction: Heidi Rehm. American journal of human genetics 110 (3) (2023)
null null
On the report of the ASHG "Facing Our History-Building an Equitable Future" initiative. American journal of human genetics 110 (3) (2023)
Chazeman S Jackson, Daria Turner, Maya June, Mona V Miller
Facing Our History-Building an Equitable Future. American journal of human genetics 110 (3) (2023)
Charles N Rotimi
2022 ASHG presidential address-One human race: Billions of genomes. American journal of human genetics 110 (3) (2023)
Peter Donnelly
2022 William Allan Award. American journal of human genetics 110 (3) (2023)
Stephen Leslie
2022 William Allan Award introduction: Peter Donnelly. American journal of human genetics 110 (3) (2023)
Bruce R Korf, Brendan Lee, Mona V Miller
Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG's continuing journey to advance human genetics. American journal of human genetics 110 (3) (2023)
Olivia W Lee, Calvin Rodrigues, Shu-Hong Lin, Wen Luo, Kristine Jones, Derek W Brown, Weiyin Zhou, Eric Karlins, Sairah M Khan, Sylvain Baulande, Virginie Raynal, Didier Surdez, Stephanie Reynaud, Rebeca Alba Rubio, Sakina Zaidi, Sandrine Grossetête, Stelly Ballet, Eve Lapouble, Valérie Laurence, Gaelle Pierron, Nathalie Gaspar, Nadège Corradini, Perrine Marec-Bérard, Nathaniel Rothman, Casey L Dagnall, Laurie Burdett, Michelle Manning, Kathleen Wyatt, Meredith Yeager, Raj Chari, Wendy M Leisenring, Andreas E Kulozik, Jennifer Kriebel, Thomas Meitinger, Konstantin Strauch, Thomas Kirchner, Uta Dirksen, Lisa Mirabello, Margaret A Tucker, Franck Tirode, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Laura Romero-Pérez, Wolfgang Hartmann, Markus Metzler, W Ryan Diver, Adriana Lori, Neal D Freedman, Robert N Hoover, Lindsay M Morton, Stephen J Chanock, Thomas G P Grünewald, Olivier Delattre, Mitchell J Machiela
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding. American journal of human genetics 110 (3) (2023)
Chunyu Liu, Wei Si, Chaofeng Tu, Shixiong Tian, Xiaojin He, Shengnan Wang, Xiaoyu Yang, Chencheng Yao, Cong Li, Zine-Eddine Kherraf, Maosen Ye, Zixue Zhou, Yuhua Ma, Yang Gao, Yu Li, Qiwei Liu, Shuyan Tang, Jiaxiong Wang, Hexige Saiyin, Liangyu Zhao, Liqun Yang, Lanlan Meng, Bingbing Chen, Dongdong Tang, Yiling Zhou, Huan Wu, Mingrong Lv, Chen Tan, Ge Lin, Qingpeng Kong, Hong Shi, Zhixi Su, Zheng Li, Yong-Gang Yao, Li Jin, Ping Zheng, Pierre F Ray, Yue-Qiu Tan, Yunxia Cao, Feng Zhang
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models. American journal of human genetics 110 (3) (2023)
Niko Välimäki, Vilja Jokinen, Tatiana Cajuso, Heli Kuisma, Aurora Taira, Olivia Dagnaud, Sini Ilves, Jaana Kaukomaa, Annukka Pasanen, Kimmo Palin, Oskari Heikinheimo, Ralf Bützow, Lauri A Aaltonen, Auli Karhu
Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas. American journal of human genetics 110 (3) (2023)
David L Nelson
2022 Victor A. McKusick Leadership Award. American journal of human genetics 110 (3) (2023)
Niko Välimäki, Vilja Jokinen, Tatiana Cajuso, Heli Kuisma, Aurora Taira, Olivia Dagnaud, Sini Ilves, Jaana Kaukomaa, Annukka Pasanen, Kimmo Palin, Oskari Heikinheimo, Ralf Bützow, Lauri A Aaltonen, Auli Karhu
Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas. American journal of human genetics 110 (3) (2023)
Eike A Strathmann, Irmgard Hölker, Nikolai Tschernoster, Seyyedmohsen Hosseinibarkooie, Julien Come, Cecile Martinat, Janine Altmüller, Brunhilde Wirth
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4. American journal of human genetics 110 (3) (2023)
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J Newson, Hamish S Scott, Natalie Thorne, Robyn L Ward, Marcel E Dinger, Stephanie Best, Janet C Long, Sean M Grimmond, John Pearson, Nicola Waddell, Christopher P Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B Fox, Jozef Gecz, Adam Jaffe, Richard J Leventer, Paul J Lockhart, Sebastian Lunke, Andrew J Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E Scheffer, Christopher Semsarian, Cas Simons, David M Thomas, David R Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T Simpson, Peta Phillips, Marie-Jo Brion, Keri Finlay, Michael Cj Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H Sinclair, John Christodoulou, Kathryn N North
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. American journal of human genetics 110 (3) (2023)

volume 110, number 4, 2023

Pankhuri Singhal, Yogasudha Veturi, Scott M Dudek, Anastasia Lucas, Alex Frase, Kristel van Steen, Steven J Schrodi, David Fasel, Chunhua Weng, Rion Pendergrass, Daniel J Schaid, Iftikhar J Kullo, Ozan Dikilitas, Patrick M A Sleiman, Hakon Hakonarson, Jason H Moore, Scott M Williams, Marylyn D Ritchie, Shefali S Verma
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets. American journal of human genetics 110 (4) (2023)

volume 110, number 5, 2023

Russell S Lo, Gareth A Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M Dudley
The functional impact of 1,570 individual amino acid substitutions in human OTC. American journal of human genetics 110 (5) (2023)
Russell S Lo, Gareth A Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M Dudley
The functional impact of 1,570 individual amino acid substitutions in human OTC. American journal of human genetics 110 (5) (2023)
Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel González-Santos, Cristian Capelli
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa. American journal of human genetics 110 (5) (2023)
Shuai Fu, Luke A D Bury, Jaejin Eum, Anthony Wynshaw-Boris
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis. American journal of human genetics 110 (5) (2023)
Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel González-Santos, Cristian Capelli
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa. American journal of human genetics 110 (5) (2023)
Andrew T Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M Wolfe, Amy L Stiegler, Titus J Boggon, May Sanyoura, Michelle Morrow, Tara L Wenger, Erica M Fernandes, Oana Caluseriu, John A Persing, Sheng Chih Jin, Richard P Lifton, Kristopher T Kahle, Paul Kruszka
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American journal of human genetics 110 (5) (2023)
Shuai Fu, Luke A D Bury, Jaejin Eum, Anthony Wynshaw-Boris
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis. American journal of human genetics 110 (5) (2023)
Russell S Lo, Gareth A Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M Dudley
The functional impact of 1,570 individual amino acid substitutions in human OTC. American journal of human genetics 110 (5) (2023)
Bruce D Gelb, Robert J Desnick
Kurt Hirschhorn (1926-2022). American journal of human genetics 110 (5) (2023)
Andrew T Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M Wolfe, Amy L Stiegler, Titus J Boggon, May Sanyoura, Michelle Morrow, Tara L Wenger, Erica M Fernandes, Oana Caluseriu, John A Persing, Sheng Chih Jin, Richard P Lifton, Kristopher T Kahle, Paul Kruszka
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American journal of human genetics 110 (5) (2023)
Russell S Lo, Gareth A Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M Dudley
The functional impact of 1,570 individual amino acid substitutions in human OTC. American journal of human genetics 110 (5) (2023)
Shuai Fu, Luke A D Bury, Jaejin Eum, Anthony Wynshaw-Boris
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis. American journal of human genetics 110 (5) (2023)
Shuai Fu, Luke A D Bury, Jaejin Eum, Anthony Wynshaw-Boris
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis. American journal of human genetics 110 (5) (2023)
Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel González-Santos, Cristian Capelli
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa. American journal of human genetics 110 (5) (2023)
Andrew T Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M Wolfe, Amy L Stiegler, Titus J Boggon, May Sanyoura, Michelle Morrow, Tara L Wenger, Erica M Fernandes, Oana Caluseriu, John A Persing, Sheng Chih Jin, Richard P Lifton, Kristopher T Kahle, Paul Kruszka
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American journal of human genetics 110 (5) (2023)
Andrew T Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M Wolfe, Amy L Stiegler, Titus J Boggon, May Sanyoura, Michelle Morrow, Tara L Wenger, Erica M Fernandes, Oana Caluseriu, John A Persing, Sheng Chih Jin, Richard P Lifton, Kristopher T Kahle, Paul Kruszka
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American journal of human genetics 110 (5) (2023)
Shuai Fu, Luke A D Bury, Jaejin Eum, Anthony Wynshaw-Boris
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis. American journal of human genetics 110 (5) (2023)
Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel González-Santos, Cristian Capelli
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa. American journal of human genetics 110 (5) (2023)
Andrew T Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M Wolfe, Amy L Stiegler, Titus J Boggon, May Sanyoura, Michelle Morrow, Tara L Wenger, Erica M Fernandes, Oana Caluseriu, John A Persing, Sheng Chih Jin, Richard P Lifton, Kristopher T Kahle, Paul Kruszka
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American journal of human genetics 110 (5) (2023)
Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel González-Santos, Cristian Capelli
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa. American journal of human genetics 110 (5) (2023)
Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel González-Santos, Cristian Capelli
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa. American journal of human genetics 110 (5) (2023)
Shuai Fu, Luke A D Bury, Jaejin Eum, Anthony Wynshaw-Boris
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis. American journal of human genetics 110 (5) (2023)

volume 110, number 6, 2023

Lei Sun, Zhong Wang, Tianyuan Lu, Teri A Manolio, Andrew D Paterson
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs? American journal of human genetics 110 (6) (2023)
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C Green, Lucia Guidugli, Kevin P Hall, Christian Hansen, Charlotte A Hobbs, Scott D Kahn, Mark Kiel, Lucita Van Der Kraan, Chad Krilow, Yong H Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sebastien Lefebvre, Rebecca Mardach, William R Mowrey, Danny Oh, Mallory J Owen, George Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal S Mehtalia, Albert Oriol, Stavros Papadopoulos, James Perry, Edwin Rosales, Erica Sanford, Steve Schwartz, Duke Tran, Martin G Reese, Meredith Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary J Willis, Aaron R Wolen, Thomas Defay
Response to Grosse et al. American journal of human genetics 110 (6) (2023)
Scott D Grosse, Carla Cuthbert, Marcus Gaffney, Amy Gaviglio, Cynthia F Hinton, Yvonne Kellar-Guenther, Alex R Kemper, Sarah McKasson, Jelili Ojodu, Catharine Riley, Sikha Singh, Marci K Sontag, Stuart K Shapira
Progress in expanding newborn screening in the United States. American journal of human genetics 110 (6) (2023)

volume 110, number 7, 2023

Anne S Bassett, Donna M McDonald-McGinn, Erik Boot, Sólveig Óskarsdóttir, Ryan K C Yuen
Approaches to studying the impact of 22q11.2 copy number variants. American journal of human genetics 110 (7) (2023)
Malú Zamariolli, Chiara Auwerx, Marie C Sadler, Adriaan van der Graaf, Kaido Lepik, Tabea Schoeler, Mariana Moysés-Oliveira, Anelisa G Dantas, Maria Isabel Melaragno, Zoltán Kutalik
Response to Bassett et al. American journal of human genetics 110 (7) (2023)
Shuai Li, John L Hopper
Implications of family history and polygenic risk scores for causation. American journal of human genetics 110 (7) (2023)
Nina Mars, Joni V Lindbohm, Pietro Della Briotta Parolo, Elisabeth Widén, Jaakko Kaprio, Aarno Palotie, null null, Samuli Ripatti
Response to Li and Hopper. American journal of human genetics 110 (7) (2023)
Verena Zuber, Alex Lewin, Michael G Levin, Alexander Haglund, Soumaya Ben-Aicha, Costanza Emanueli, Scott Damrauer, Stephen Burgess, Dipender Gill, Leonardo Bottolo
Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes. American journal of human genetics 110 (7) (2023)

volume 110, number 8, 2023

Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H Duyzend, Hayk Barseghyan, Bo Yuan, Philip M Boone, Emily E Groopman, Emmanuèle C Délot, Deepti Jain, Alba Sanchis-Juan, null null, Lea M Starita, Michael Talkowski, Stephen B Montgomery, Michael J Bamshad, Jessica X Chong, Matthew T Wheeler, Seth I Berger, Anne O'Donnell-Luria, Fritz J Sedlazeck, Danny E Miller
Beyond the exome: What's next in diagnostic testing for Mendelian conditions. American journal of human genetics 110 (8) (2023)
Yijun Tian, Dandan Dong, Zixian Wang, Lang Wu, Jong Y Park, null null, Gong-Hong Wei, Liang Wang
Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression. American journal of human genetics 110 (8) (2023)
Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, Joohyun Park, Jakob Admard, Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma, Jennifer Bain, Meena Balasubramanian, Siddharth Banka, Paul J Benke, Miriam Bertrand, Alyssa E Blesson, Jill Clayton-Smith, Jamie M Ellingford, Madelyn A Gillentine, Dana H Goodloe, Tobias B Haack, Mahim Jain, Ian Krantz, Sharon M Luu, Molly McPheron, Candace L Muss, Sarah E Raible, Nathaniel H Robin, Michael Spiller, Susan Starling, David A Sweetser, Isabelle Thiffault, Francesco Vetrini, Dennis Witt, Emily Woods, Dihong Zhou, null null, null null, Ype Elgersma, Annelot C M van Esbroeck
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. American journal of human genetics 110 (8) (2023)
Alba Sanchis-Juan, Karyn Megy, Jonathan Stephens, Camila Armirola Ricaurte, Eleanor Dewhurst, Kayyi Low, Courtney E French, Detelina Grozeva, Kathleen Stirrups, Marie Erwood, Amy McTague, Christopher J Penkett, Olga Shamardina, Salih Tuna, Louise C Daugherty, Nicholas Gleadall, Sofia T Duarte, Antonio Hedrera-Fernández, Julie Vogt, Gautam Ambegaonkar, Manali Chitre, Dragana Josifova, Manju A Kurian, Alasdair Parker, Julia Rankin, Evan Reid, Emma Wakeling, Evangeline Wassmer, C Geoffrey Woods, null null, F Lucy Raymond, Keren J Carss
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. American journal of human genetics 110 (8) (2023)

volume 110, number 9, 2023

Marcela Sandoval-Velasco, Anuradha Jagadeesan, Jazmín Ramos-Madrigal, María C Ávila-Arcos, Cesar A Fortes-Lima, Judy Watson, Erna Johannesdóttir, Diana I Cruz-Dávalos, Shyam Gopalakrishnan, J Víctor Moreno-Mayar, Jonas Niemann, Gabriel Renaud, Katharine A Robson Brown, Helena Bennett, Andrew Pearson, Agnar Helgason, M Thomas P Gilbert, Hannes Schroeder
The ancestry and geographical origins of St Helena's liberated Africans. American journal of human genetics 110 (9) (2023)