Pengfei Liu

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 37

Top Venues

American journal of medical genetics. Part A

Human genetics

NEJM AI

Journal of medical genetics

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

Publications

Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami Ai-Ouran, Cole Deisseroth, Sasidhar Pasupuleti, Seon Young Kim, Lucian Li, Jill Anne Rosenfeld, Linyan Meng, Lindsay C Burrage, Michael F Wangler, Shinya Yamamoto, null null, Michael Santana, Victor Perez, Priyank Shukla, Christine M Eng, Brendan H Lee, Bo Yuan, Fan Xia, Hugo J Bellen, Pengfei Liu, Zhandong Liu
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI 1 (5) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami Ai-Ouran, Cole Deisseroth, Sasidhar Pasupuleti, Seon Young Kim, Lucian Li, Jill Anne Rosenfeld, Linyan Meng, Lindsay C Burrage, Michael F Wangler, Shinya Yamamoto, null null, Michael Santana, Victor Perez, Priyank Shukla, Christine M Eng, Brendan H Lee, Bo Yuan, Fan Xia, Hugo J Bellen, Pengfei Liu, Zhandong Liu
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI 1 (5) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami Ai-Ouran, Cole Deisseroth, Sasidhar Pasupuleti, Seon Young Kim, Lucian Li, Jill Anne Rosenfeld, Linyan Meng, Lindsay C Burrage, Michael F Wangler, Shinya Yamamoto, null null, Michael Santana, Victor Perez, Priyank Shukla, Christine M Eng, Brendan H Lee, Bo Yuan, Fan Xia, Hugo J Bellen, Pengfei Liu, Zhandong Liu
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI 1 (5) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, Ming Yin Lun, Christopher M Grochowski, Medhat Mahmoud, Hsiao-Tuan Chao, Jill A Rosenfeld, Pengfei Liu, Jakob Schuy, Adam Ameur, null null, James Paul Hwang, Fritz J Sedlazeck, Weimin Bi, Ronit Marom, Ann Nordgren, Claudia M B Carvalho, Anna Lindstrand
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. medRxiv : the preprint server for health sciences (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Runjun D Kumar, Linyan Meng, Pengfei Liu, Christina Y Miyake, Kim C Worley, Weimin Bi, Seema R Lalani
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 188 (11) (2022)
Pengfei Liu, Liesbeth Vossaert
Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing. Prenatal diagnosis 42 (6) (2022)
Bo Yuan, Katharina V Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R Lupski, Pengfei Liu
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome medicine 14 (1) (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A (2022)
Sheng-Jia Lin, Barbara Vona, Hillary M Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill Anne Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba Akbar Ali, Nazif Muhammad, Sher Alam Khan, Noor Muhammad, Pengfei Liu, Marie-Louise Haymon, Franz Rüschendorf, Il-Keun Kong, Linda Schnapp, Natasha Shur, Lynn P Chorich, Lawrence C Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung-Goo Kim, Guarav K Varshney
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human mutation 43 (10) (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Haowei Du, Angad Jolly, Christopher M Grochowski, Bo Yuan, Moez Dawood, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E Scheuerle, Karin Witzl, Jennifer E Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P J Hastings, Weimin Bi, Richard A Gibbs, Fritz J Sedlazeck, James R Lupski, Claudia M B Carvalho, Pengfei Liu
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome medicine 14 (1) (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Amy Hardcastle, Aliska M Berry, Ian M Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E Gerard, Jill A Rosenfeld, Saumya D Sisoudiya, Andres Hernandez-Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria Lisa Dentici, Rossella Capolino, Maria C Digilio, Ludovico Graziani, Cecilie F Rustad, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J McMullan, John Dean, Maria G Giuffrida, Laura Bernardini, Vinod Varghese, Nora L Shannon, Rachel E Harrison, Wayne W K Lam, Shane McKee, Peter D Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A Shaw, Wendy K Chung, Daryl A Scott
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. American journal of medical genetics. Part A 188 (10) (2022)
Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S Tonk, Robert W Huff, Veronica Ortega, James R Lupski, Steven E Scherer, Rebecca Okashah Littlejohn, Gopalrao V N Velagaleti, Elizabeth R Roeder, Sau Wai Cheung
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. Journal of medical genetics (2022)
Jonathan J Rios, Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie Russell, Sara Ludwig, Jill A Rosenfeld, Pengfei Liu, Jake Munch, Daniel J Sucato, Bruce Beutler, Carol A Wise
Saturation mutagenesis defines novel mouse models of severe spine deformity. Disease models & mechanisms 14 (6) (2021)
Tiana M Scott, Ian M Campbell, Andres Hernandez-Garcia, Seema R Lalani, Pengfei Liu, Chad A Shaw, Jill Anne Rosenfeld, Daryl A Scott
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. Journal of medical genetics (2021)
Stacey D Edwards, Katharina V Schulze, Jill Anne Rosenfeld, Lauren E Westerfield, Amanda Gerard, Bo Yuan, Elena L Grigorenko, Jennifer E Posey, Weimin Bi, Pengfei Liu
Clinical characterization of individuals with the distal 1q21.1 microdeletion. American journal of medical genetics. Part A 185 (5) (2021)
Laura Keehan, Ming-Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David Murdock, Pengfei Liu, Jill V Hunter, Jason D Heaney, Laurie Robak, Lisa Emrick, Timothy Lotze, Lauren S Blieden, null null, Richard Alan Lewis, Alex V Levin, Jenina E Capasso, William J Craigen, Jill A Rosenfeld, Brendan Lee, Lindsay C Burrage
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. American journal of medical genetics. Part A 185 (8) (2021)
Jill Anne Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael J Parker, Mary K Koenig, Arie van Haeringen, Claudia Ruivenkamp, Joana Rosmaninho-Salgado, Pedro M Almeida, Joaquim Sá, Jorge Pinto Basto, Emily Palen, Kathryn F Oetjens, Lindsay C Burrage, Fan Xia, Pengfei Liu, Christine M Eng, null null, Yaping Yang, Jennifer E Posey, Brendan H Lee
Heterozygous variants in SPTBN1 cause intellectual disability and autism. American journal of medical genetics. Part A 185 (7) (2021)
Michelle E Walters, Yves Lacassie, Mahshid Azamian, Rachel Franciskovich, Gladys Zapata, Patricia P Hernandez, Pengfei Liu, Ian M Campbell, Bret L Bostwick, Seema R Lalani
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. American journal of medical genetics. Part A 185 (3) (2020)
Sen Zhao, Yuanqiang Zhang, Weisheng Chen, Weiyu Li, Shengru Wang, Lianlei Wang, Yanxue Zhao, Mao Lin, Yongyu Ye, Jiachen Lin, Yu Zheng, Jiaqi Liu, Hengqiang Zhao, Zihui Yan, Yongxin Yang, Yingzhao Huang, Guanfeng Lin, Zefu Chen, Zhen Zhang, Sen Liu, Lichao Jin, Zhaoyang Wang, Jingdan Chen, Yuchen Niu, Xiaoxin Li, Yong Wu, Yipeng Wang, Renqian Du, Na Gao, Hong Zhao, Ying Yang, Ying Liu, Ye Tian, Wenli Li, Yu Zhao, Jia Liu, Bin Yu, Na Zhang, Keyi Yu, Xu Yang, Shugang Li, Yuan Xu, Jianhua Hu, Zhe Liu, Jianxiong Shen, Shuyang Zhang, Jianzhong Su, Anas M Khanshour, Yared H Kidane, Brandon Ramo, Jonathan J Rios, Pengfei Liu, V Reid Sutton, Jennifer E Posey, Zhihong Wu, Guixing Qiu, Carol A Wise, Feng Zhang, Jianguo Zhang, Nan Wu, null null
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). Journal of medical genetics 58 (1) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J Lockhart, Melanie A Manning, Pengfei Liu, Ingrid E Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G Amaral, Gijs W E Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J Michaelson, Karen Pierce, Eric Courchesne, R Frank Kooy, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J Lockhart, Melanie A Manning, Pengfei Liu, Ingrid E Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G Amaral, Gijs W E Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J Michaelson, Karen Pierce, Eric Courchesne, R Frank Kooy, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
Wenjun Zhou, Yanlin He, Atteeq U Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying-Wooi Wan, Basil Paul, Chuhan Wang, Yingyun Gong, Wenxian Zhou, Hao Liu, John Dean, Emmanuel Scalais, Mary O'Driscoll, Jenny E V Morton, null null, Xinguo Hou, Qi Wu, Qingchun Tong, Zhandong Liu, Pengfei Liu, Yong Xu, Zheng Sun
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection. Nature neuroscience 22 (2) (2019)
Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P A Stegmann, Carlos E Prada, Robert J Hopkin, Joseph T Shieh, Kirsty McWalter, Kristin G Monaghan, Peter M van Hasselt, Koen van Gassen, Ting Bai, Min Long, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A Scott, Seema R Lalani, Mahshid S Azamian, Grazia M S Mancini, Darius J Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa A Osei-Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gecz, Eric A Haan, Judith Ranells, Melissa Racobaldo, Magnus Nordenskjold, Suneeta Madan-Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill Anne Rosenfeld, Bert B A de Vries, Raphael A Bernier, Zhi-Qing David Xu, Honghui Li, Wei Xie, Robert B Hufnagel, Evan E Eichler, Kun Xia
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances 5 (9) (2019)
Alexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, Mark E Corkins, Yuxiao Xu, Jill Anne Rosenfeld, Matthew N Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-Khetarpal, Mauricio R Delgado, Louanne Hudgins, Ian Krantz, David Rodriguez-Buritica, Patricia G Wheeler, Lihadh Al-Gazali, Aisha Mohamed Saeed Mohamed Al Shamsi, Natalia Gomez-Ospina, Hsiao-Tuan Chao, Ghayda M Mirzaa, Angela E Scheuerle, Mary K Kukolich, Fernando Scaglia, Christine Eng, Helen Rankin Willsey, Michael C Braun, Dolores J Lamb, Rachel K Miller, Mir Reza Bekheirnia
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J Benke, Jonathan A Bernstein, Tanya Eble, Yasemen Eroglu, Deanna Erwin, Luis Escobar, James B Gibson, Karen Gripp, Soledad Kleppe, Mary K Koenig, Andrea M Lewis, Marvin Natowicz, Pedro Mancias, LaKeesha Minor, Fernando Scaglia, Christian P Schaaf, Haley Streff, Hilary Vernon, Crescenda L Uhles, Elaine H Zackai, Nan Wu, V Reid Sutton, Arthur L Beaudet, Donna Muzny, Richard A Gibbs, Jennifer E Posey, Seema Lalani, Chad Shaw, Christine M Eng, James R Lupski, Yaping Yang
Reanalysis of Clinical Exome Sequencing Data. The New England journal of medicine 380 (25) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Pengfei Liu