Jennifer E Posey

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 51

Top Venues

American journal of medical genetics. Part A

Human mutation

Annals of clinical and translational neurology

Annals of neurology

Baylor College of Medicine

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

Affiliation History

Baylor College of Medicine

United States

Assistant Professor :: Molecular and Human Genetics

Publications

Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Priya T Bhola, Radha Mishra, Jennifer E Posey, Leslie E Hamilton, Gail E Graham, Jaya Punetha, null null, James R. Lupski, Kym M Boycott, Damien D'Amours, Kristin D Kernohan
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Daniel G Calame, Jennifer E Posey, James R. Lupski, Maha Saad Zaki
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clinical genetics (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo, Xiaoxin Li, Dominyka Batkovskyte, Sen Liu, Hillevi Lindelöf, Shengru Wang, Anna Hammarsjö, Yang Yang, Yongyu Ye, Lianlei Wang, Zihui Yan, Jiachen Lin, Chenxi Yu, Zefu Chen, Yuchen Niu, Huizi Wang, Zhi Zhao, Pengfei Liu, Guixing Qiu, Jennifer E Posey, Zhihong Wu, James R. Lupski, Ieva Micule, Britt-Marie Anderlid, Ulrika Voss, Dennis Sulander, Ekaterina Kuchinskaya, Ann Nordgren, Ola Nilsson, null null, Terry Jianguo Zhang, Giedre Grigelioniene, Nan Wu
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ genomic medicine 7 (1) (2022)
Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini N. Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Vardhan Doddapaneni, Jennifer E Posey, James R. Lupski, Aniko Sabo, David R Murdock, Fritz J Sedlazeck, Richard A Gibbs
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Human mutation (2022)
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N Jhangiani, Jennifer E Posey, Richard A Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. American journal of medical genetics. Part A 188 (7) (2022)
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Daniel A Doherty, James R. Lupski, Joseph T C Shieh
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, Vernon Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R. Lupski
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of neurology 92 (2) (2022)
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R. Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Assaf Sheffer, Jessica X Chong, Yaron Einhorn, Miro Cupak, Nara Lygia de Macena Sobreira
Variant-level matching for diagnosis and discovery: Challenges and opportunities. Human mutation 43 (6) (2022)
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, Haowei Du, Karima Rafat, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, null null, Richard A Gibbs, Davut Pehlivan, Jill V Hunter, Jennifer E Posey, Maha Saad Zaki, James R. Lupski
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. American journal of medical genetics. Part A 185 (4) (2021)
Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrahim Hegazy, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, James R. Lupski
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. American journal of medical genetics. Part A (2021)
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G Calame, Jill V Hunter, V Reid Sutton, Elif Yilmaz Gulec, Ruizhi Duan, Jawid M Fatih, Dana Marafi, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, null null, Shazia Maqbool, James R. Lupski, Henry Houlden
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American journal of medical genetics. Part A 185 (7) (2021)
Smitha Kumble, Amanda M Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane-Yeboa, Paul J Benke, Sara M Berger, Lise Bjerglund, Belinda Campos-Xavier, Michael Ciliberto, Julie S Cohen, Anne M Comi, Cynthia Curry, Lena Damaj, Anne Sophie Denommé-Pichon, Lisa Emrick, Laurence Faivre, Mary Beth Fasano, Alice Fiévet, Richard S Finkel, Sixto García-Miñaúr, Amanda Gerard, Paulino Gomez-Puertas, Maria J Guillen Sacoto, Trevor L Hoffman, Lillian Howard, Alejandro D Iglesias, Kosuke Izumi, Austin Larson, Anja Leiber, Reymundo Lozano, Iñigo Marcos-Alcalde, Cassie S Mintz, Sureni V Mullegama, Rikke S Møller, Sylvie Odent, Henry Oppermann, Elsebet Ostergaard, Marta Pacio-Míguez, Maria Palomares-Bralo, Sumit Parikh, Anna M Paulson, Konrad Platzer, Jennifer E Posey, Lorraine Potocki, Anya Revah-Politi, Marlene Rio, Alyssa L Ritter, Scott Robinson, Jill Anne Rosenfeld, Fernando Santos-Simarro, Sérgio B Sousa, Undiagnosed Diseases Network, Mathys Wéber, Yili Xie, Wendy K Chung, Natasha J Brown, Zeynep Tümer
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human mutation (2021)
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, Ghalia Y Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, Dana Marafi, James R. Lupski
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. American journal of medical genetics. Part A 185 (7) (2021)
Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, David A Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T Darras, Robert J Graham, Parul Jayakar, Barry Byrne, Bat El Bar-Aluma, Yael Haberman, Amir Szeinberg, Hesham M Aldhalaan, Mais Hashem, Amal Al Tenaiji, Omar Ismayl, Asma E Al Nuaimi, Karima Maher, Shahnaz Ibrahim, Fatima Khan, Henry Houlden, Vijayalakshmi S Ramakumaran, Alistair T Pagnamenta, Jennifer E Posey, James R. Lupski, Wen-Hann Tan, Gehad ElGhazali, Isabella Herman, Tatiana Muñoz, Gabriela M Repetto, Angelika Seitz, Mandy Krumbiegel, Maria Cecilia Poli, Usha Kini, Stephanie Efthymiou, Jens Meiler, Reza Maroofian, Fowzan Sami Alkuraya, Rami Abou Jamra, Bernt Popp, Bruria Ben-Zeev, Darius Ebrahimi-Fakhari
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Human mutation 42 (6) (2021)
Daniel G Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dianna M Milewicz, Richard A Gibbs, Jennifer E Posey, Dana Marafi, Jill V Hunter, Yuxin Fan, James R. Lupski, Christina Y Miyake
Risk of sudden cardiac death in EXOSC5-related disease. American journal of medical genetics. Part A 185 (8) (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)
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, Inas S M Sayed, Shalini N Jhangiani, Ziad Khan, Haowei Du, Richard A Gibbs, Jennifer E Posey, Dana Marafi, James R. Lupski
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. American journal of medical genetics. Part A (2021)
Linyan Meng, Pirjo Isohanni, Yunru Shao, Brett H Graham, Scott E Hickey, Stephanie Brooks, Anu Suomalainen, Pascal Joset, Katharina Steindl, Anita Rauch, Annette Hackenberg, Frances A High, Amy Armstrong-Javors, Niccolò E Mencacci, Paulina Gonzàlez-Latapi, Walaa A Kamel, Jasem Y Al-Hashel, Bernabé I Bustos, Alejandro V Hernandez, Dimitri Krainc, Steven J Lubbe, Hilde Van Esch, Chiara De Luca, Katleen Ballon, Claudia Ravelli, Lydie Burglen, Leila Qebibo, Daniel G Calame, Tadahiro Mitani, Dana Marafi, Davut Pehlivan, Nebal W Saadi, Yavuz Sahin, Reza Maroofian, Stephanie Efthymiou, Henry Houlden, Shazia Maqbool, Fatima Rahman, Shen Gu, Jennifer E Posey, James R Lupski, Jill V Hunter, Michael F Wangler, Christopher J Carroll, Yaping Yang
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of neurology 89 (4) (2021)
Michael M Khayat, He Li, Varuna Chander, Jianhong Hu, Adam W Hansen, Shoudong Li, Josh Traynelis, Hua Shen, George Weissenberger, Fabio Stossi, Hannah L Johnson, James R. Lupski, Jennifer E Posey, Aniko Sabo, Qingchang Meng, David R Murdock, Michael Wangler, Richard A Gibbs
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Human mutation 42 (5) (2021)
Daniel G Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Shalini N Jhangiani, Dana Marafi, Richard A Gibbs, Jennifer E Posey, Vidya P Mehta, Carrie A Mohila, Farida Abid, Timothy E Lotze, Davut Pehlivan, Adekunle M Adesina, James R. Lupski
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Annals of clinical and translational neurology 8 (10) (2021)
Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M Nouel-Saied, Diana M Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E Posey, Regie Lyn P Santos-Cortez, Isabelle Schrauwen
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human genetics 140 (7) (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)
Gerrye Mubungu, Prince Makay, Bouchra Boujemla, Stephane Yanda, Jennifer E Posey, James R Lupski, Vincent Bours, Prosper Lukusa, Koenraad Devriendt, Aimé Z Lumaka
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). American journal of medical genetics. Part A 185 (3) (2020)
David A Dyment, Anne H O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs, Kaya Bilguvar, Eric Boerwinkle, Harrison Brand, Catherine A Brownstein, Steve Buyske, Bernard Chodirker, Jungmin Choi, Albert E Chudley, Carol L Clericuzio, Gerald F Cox, Cynthia Curry, Elke de Boer, Bert B A de Vries, Kathryn Dunn, Cullen M Dutmer, Eleina M England, Jill A Fahrner, Bilgen Bilge Geckinli, Casie A Genetti, Alper Gezdirici, William T Gibson, Joseph G Gleeson, Cheryl R Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N Jhangiani, Ender Karaca, Kristin Kernohan, Julie L Lauzon, M E Suzanne Lewis, R Brian Lowry, Francesc López-Giráldez, Tara C Matise, Jennifer McEvoy-Venneri, Brenda McInnes, Aziz Mhanni, Sixto Garcia Minaur, Jukka Moilanen, An Nguyen, Malgorzata J M Nowaczyk, Jennifer E Posey, Katrin Õunap, Davut Pehlivan, Sander Pajusalu, Lynette S Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David Wargowski, P Dane Witmer, Isaac Wong, Jinchuan Xing, Maha Saad Zaki, Yeting Zhang, null null, null null, Kym M Boycott, Michael J Bamshad, Deborah A Nickerson, Elizabeth E Blue, A Micheil Innes
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American journal of medical genetics. Part A 185 (1) (2020)
Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W El-Hattab, Jaishen Rajah, Jawid M Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill Anne Rosenfeld, Shalini N Jhangiani, Eric Boerwinkle, Zeynep C Akdemir, Serkan Erdin, Jill V Hunter, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, James R. Lupski
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Annals of clinical and translational neurology 7 (5) (2020)
Zeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, Ingrid S Paine, Jaya Punetha, Christopher M Grochowski, Tomasz Gambin, Santiago O Valdes, Bryan Cannon, Gladys Zapata, Patricia P Hernandez, Shalini Jhangiani, Harsha Doddapaneni, Jianhong Hu, Fatima Boricha, Donna M Muzny, Eric Boerwinkle, Yaping Yang, Richard A Gibbs, Jennifer E Posey, Xander H T Wehrens, John W Belmont, Jeffrey J Kim, Christina Y Miyake, James R Lupski, Seema R Lalani
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. American journal of medical genetics. Part A 182 (6) (2020)
Katherine Taylor Wild, Tia Gordon, Elizabeth Joyce Bhoj, Haowei Du, Shalini N Jhangiani, Jennifer E Posey, James R Lupski, Daryl A Scott, Elaine H Zackai
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. American journal of medical genetics. Part A 182 (12) (2020)
Heidi Cope, Rebecca Spillmann, Jill A Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily G Kelley, Jennifer A Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden-Grant, null null, James P Orengo, Gary Clark, Lindsay C Burrage, Jennifer E Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A Phillips, Julian A Martinez, Vandana Shashi
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Molecular genetics & genomic medicine 8 (10) (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)
Ximena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, Varuna Chander, Christopher M Grochowski, Yunyun Jiang, He Li, Tadahiro Mitani, Elena Kessler, Joy Jayaseelan, Hua Shen, Alper Gezdirici, Davut Pehlivan, Qingchang Meng, Jill A Rosenfeld, Shalini N Jhangiani, Suneeta Madan-Khetarpal, Daryl A Scott, Hugo Abarca-Barriga, Milana Trubnykova, Marie-Claude Gingras, Donna M Muzny, Jennifer E Posey, Pengfei Liu, James R. Lupski, Richard A Gibbs
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Human mutation 41 (12) (2020)
Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song, Zeynep Coban Akdemir, Jill A Rosenfeld, Chester W Brown, Emily Chen, Shannon G Holtrop, Elizabeth Mizerik, Margarita Nieto Moreno, Katelyn Payne, Annick Raas-Rothschild, Richard Scott, Hilary J Vernon, Neda Zadeh, null null, James R Lupski, V Reid Sutton
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). American journal of medical genetics. Part A 182 (1) (2019)
Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin-Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia M B Carvalho, Jennifer E Posey, Guixing Qiu, null null, James R Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Molecular genetics & genomic medicine 8 (1) (2019)
Ender Karaca, Jennifer E Posey, Bret Bostwick, Pengfei Liu, Alper Gezdirici, Gozde Yesil, Zeynep Coban Akdemir, Yavuz Bayram, Frederike L Harms, Peter Meinecke, Malik Alawi, Carlos A Bacino, V Reid Sutton, Fanny Kortüm, James R Lupski
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. American journal of medical genetics. Part A 179 (10) (2019)
Nurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B Bosanko, Skander Bouassida, Bert Callewaert, Ashley Cannon, Yazmin Enchautegui Colon, Adolfo D Garnica, Margaret H Harr, Sandra Heck, Anna C E Hurst, Shalini N Jhangiani, Bertrand Isidor, Rebecca O Littlejohn, Pengfei Liu, Pilar Magoulas, Helen Mar Fan, Ronit Marom, Scott McLean, Marjan M Nezarati, Kimberly M Nugent, Michael B Petersen, Maria L Rocha, Elizabeth Roeder, Robert Smigiel, Ian Tully, James Weisfeld-Adams, Katerina O Wells, null null, Jennifer E Posey, James R. Lupski, Arthur L Beaudet, Michael F Wangler
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Human mutation 41 (3) (2019)
Jennifer E Posey
Genome sequencing and implications for rare disorders. Orphanet journal of rare diseases 14 (1) (2019)
Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E Lamont, Davut Pehlivan, Dana Marafi, Juan Pablo Appendino, Jill V Hunter, Zeynep C Akdemir, Jawid M Fatih, Shalini N Jhangiani, Richard A Gibbs, A Micheil Innes, Jennifer E Posey, James R Lupski
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Annals of clinical and translational neurology 6 (8) (2019)
Weisheng Chen, Jiachen Lin, Lianlei Wang, Xiaoxin Li, Sen Zhao, Jiaqi Liu, Zeynep C Akdemir, Yanxue Zhao, Renqian Du, Yongyu Ye, Xiaofei Song, Yuanqiang Zhang, Zihui Yan, Xinzhuang Yang, Mao Lin, Jianxiong Shen, Shengru Wang, Na Gao, Ying Yang, Ying Liu, Wenli Li, Jia Liu, Na Zhang, Xu Yang, Yuan Xu, Jianguo Zhang, Mauricio R Delgado, Jennifer E Posey, Guixing Qiu, Jonathan J Rios, Pengfei Liu, Carol A Wise, Feng Zhang, Zhihong Wu, James R. Lupski, Nan Wu
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Human mutation 41 (1) (2019)
Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G Stefan, Helena Ahlfors, Robert Kleyner, Alan Rope, Aimé Lumaka, Prosper Lukusa, Koenraad Devriendt, Joris Vermeesch, Jennifer E Posey, Elizabeth E Palmer, Lucinda Murray, Eyby Leon, Jullianne Diaz, Lisa Worgan, Amalia Mallawaarachchi, Julie Vogt, Sonja A de Munnik, Lauren Dreyer, Gareth Baynam, Lisa Ewans, Zornitza Stark, Sebastian Lunke, Ana R Gonçalves, Gabriela Soares, Jorge Oliveira, Emily Fassi, Marcia Willing, Jeff L Waugh, Laurence Faivre, Jean-Baptiste Riviere, Sebastien Moutton, Shehla Mohammed, Katelyn Payne, Laurence Walsh, Amber Begtrup, Maria J Guillen Sacoto, Ganka Douglas, Nora Alexander, Michael F Buckley, Paul R Mark, Lesley C Adès, Sarah A Sandaradura, James R. Lupski, Tony Roscioli, Pankaj B Agrawal, Antonie D Kline, null null, Kai Wang, H T Marc Timmers, Gholson J Lyon
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Human mutation (2019)
Kathie J Ngo, Jessica E Rexach, Hane Lee, Lauren E Petty, Susan Perlman, Juliana M Valera, Joshua L Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E Posey, Shalini N Jhangiani, Zeynep H Coban-Akdemir, Eric Boerwinkle, Donna Muzny, Alexandra B Nelson, Sharon Hassin-Baer, Gemma Poke, Katherine Neas, Michael D Geschwind, Wayne W Grody, Richard Gibbs, Daniel H Geschwind, James R. Lupski, Jennifer E Below, Stanley F Nelson, Brent L Fogel
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Human mutation 41 (2) (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)
Michael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, Jennifer E Posey, Monte Westerfield, John H Postlethwait, null null, Philip Hieter, Kym M Boycott, Philippe M Campeau, Hugo J Bellen
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics 207 (1) (2017)
Jennifer E Posey, Jill Anne Rosenfeld, Regis A James, Matthew Bainbridge, Zhiyv Niu, Xia Wang, Shweta U Dhar, Wojciech Wiszniewski, Zeynep H C Akdemir, Tomasz Gambin, Fan Xia, Richard E Person, Magdalena Walkiewicz, Chad A Shaw, V Reid Sutton, Arthur L Beaudet, Donna Muzny, Christine M Eng, Yaping Yang, Richard A Gibbs, James R Lupski, Eric Boerwinkle, Sharon E Plon
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genetics in medicine : official journal of the American College of Medical Genetics 18 (7) (2015)

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Jennifer E Posey