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Jennifer E. Posey

baylor college of medicine

51H-index
345Paper Count
9.5KCitation Count
Published Papers 139
Publication Date
Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families
err2026-07-17
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errShaghayegh T. Beheshti; Angad Jolly; Ahmed K. Saad; Haowei Du; Lauren E. Westerfield; Chloe Munderloh; Divya Kalra; Yifan Wu; Yi Chen; Marie-Claude Gingras; Shalini N. Jhangiani; Sarenur Yilmaz; Maha S. Zaki; Daniel G. Calame; Davut Pehlivan; Richard A. Gibbs; Richard A. Lewis; James R. Lupski; Jennifer E. Posey
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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
err2026-05-18
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errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
err2026-04-08
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errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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GREGoR: accelerating genomics for rare diseases
errNature
IF48.5
err2025-11-12
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PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
err2025-10-31
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errKristy L. Jay; Nikhita Gogate; Paige I. Hall; Kimberly M. Ezell; Jonathan C. Andrews; Sharayu V. Jangam; Hongling Pan; Kelvin Pham; Ryan German; Vanessa Gomez; Emily Jellinek-Russo; Eric Storch; Shinya Yamamoto; Oguz Kanca; Hugo J. Bellen; Herman Dierick; Joy D. Cogan; John A. Phillips; Rizwan Hamid; Thomas Cassini; Lynette Rives; Sumit Pruthi; Hua-Chang Chen; Jennifer E. Posey; Michael F. Wangler
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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes
err2025-10-26
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errYingxi Wang; Eleanor I. Sams; Rachel Slaugh; Sandra Crocker; Emily Cordova Hurtado; Sophia Tracy; Ying-Chen Claire Hou; Christopher Markovic; Kostandin Valle; Victoria Tate; Khadija Belhassan; Elizabeth Appelbaum; Titilope Akinwe; Rodrigo T. Starosta; Yang Cao; Amber Neilson; Yu Liu; Nathaniel Jensen; Reza Ghasemi; Tina Lindsay; Juana Manuel; Sophia Couteranis; Milinn Kremitzki; Jack Ustanik; Thomas Antonacci; Jeffrey K. Ng; Andrew Emory; Laura Metz; Tracie DeLuca; Katherine N. Lyons; Toni Sinnwell; Brianne Thomeczek; Kymme Wang; Nick Sisneros; Megha Muraleedharan; Anantha Kethireddy; Marco Corbo; Harsha Gowda; Katherine A. King; Christina A. Gurnett; Susan K. Dutcher; Catherine Gooch; Yang E. Li; Matthew W. Mitchell; Kevin A. Peterson; Amjad Horani; Jill A. Rosenfeld; Weimin Bi; Pawel Stankiewicz; Hsiao-Tuan Chao; Jennifer E. Posey; Christopher M. Grochowski; Zain Dardas; Erik G. Puffenberger; Christopher E. Pearson; Frank Kooy; Dale Annear; A. Micheil Innes; Michael Heinz; Richard Head; Robert Fulton; Stephan Toutain; Lucinda Antonacci-Fulton; Xiaoxia Cui; Robi D. Mitra; F. Sessions Cole; Julie Neidich; Patricia I. Dickson; Jeffrey Milbrandt; Tychele N. Turner
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Reported Demographics of Primary Immunodeficiency Diseases in the United States
err2025-09-12
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PREAI
errLavinia Ferrante di Ruffano; Emma Carr; Mary Edwards; Mick R. Arber; Stephanie A. Grilo; Jennifer E. Posey; Manar Abdalgani; Jordan S. Orange
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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
err2025-09-06
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errE. Andres Rivera-Munoz; Xiaonan E. Zhao; Jill A. Rosenfeld; Pamela N. Luna; Chad A. Shaw; Jennifer E. Posey; Daryl A. Scott
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The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions
err2025-05-14
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errAparna Krishnavajhala; Marie-Claude Gingras; Emmanuel Urquieta; Hsu Chao; Dilrukshi Bandaranaike; Yi Chen; Sravya Bhamidipati; Viktoriya Korchina; S. Michelle Griffin; Michal M. Masternak; Hannah Moreno; Javid Mohammed; Mullai Murugan; Jennifer E. Posey; Jimmy H. Wu; Donna Muzny; Richard A. Gibbs; Harsha Doddapaneni
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
err2025-05-01
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errDardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
err2025-02-01
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errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
err2025-02-01
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errAbdalgani, Manar; Hernandez, Evelyn R.; Pedroza, Luis A.; Chinn, Ivan K.; Satter, Lisa R. Forbes; Rider, Nicholas L.; Banerjee, Pinaki P.; Poli, M. Cecilia; Mahapatra, Sanjana; Canter, Debra; Cao, Tram; Shawver, Linda M.; Nandiwada, Sarada L.; Lupski, James R.; Posey, Jennifer E.; Ramakrishnan, Rajasekhar; Mace, Emily M.
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The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity
err2025-01-01
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errPedroza, Luis A.; van den Haak, Frederique; Frumovitz, Alexander; Hernandez, Evelyn; Hegewisch-Solloa, Everardo; Orange, Tabitha K.; Sheehan, Keri B.; Prockop, Susan; Bodansky, Aaron; Chinn, Ivan K.; Lupski, James R.; Posey, Jennifer E.; Mace, Emily M.; Li, Yu; Orange, Jordan S.
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TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies
err2024-12-23
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PREAI
errKalanithy, Jeshurun C.; Mingardo, Enrico; Stegmann, Jil D.; Dhakar, Ramgopal; Dakal, Tikam Chand; Rosenfeld, Jill A.; Tan, Wen-Hann; Coury, Stephanie A.; Woerner, Audrey C.; Sebastian, Jessica; Levy, Paul A.; Fleming, Leah R.; Waffenschmidt, Lea; Lindenberg, Tobias T.; Yilmaz, Oeznur; Channab, Khadija; Babra, Bimaljeet K.; Christ, Andrea; Eiberger, Britta; Hoelzel, Selina; Vidic, Clara; Haeberlein, Felix; Ishorst, Nina; Rodriguez-Gatica, Juan E.; Pezeshkpoor, Behnaz; Kupczyk, Patrick A.; Vanakker, Olivier M.; Loddo, Sara; Novelli, Antonio; Dentici, Maria L.; Becker, Albert; Thiele, Holger; Posey, Jennifer E.; Lupski, James R.; Hilger, Alina C.; Reutter, Heiko M.; Merz, Waltraut M.; Dworschak, Gabriel C.; Odermatt, Benjamin
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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
err2024-11-01
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PREAI
errBarish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurelien; Waberski, Marta Biderman; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Oystein L.; Busk, Oyvind L.; Houlden, Henry; Karimiani, Ehsan Ghayoor; Toosi, Mehran Beiraghi; Badv, Reza Shervin; Torbati, Paria Najarzadeh; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M.; Huang, Kevin; Petree, Cassidy; Calame, Daniel G.; von der Lippe, Charlotte; Alkuraya, Fowzan S.; Wali, Sami; Lupski, James R.; Varshney, Gaurav K.; Posey, Jennifer E.; Pehlivan, Davut
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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
err2024-09-10
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errDardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M.; El-Rashidy, Omnia F.; Grochowski, Christopher M.; Carvalho, Claudia M. B.; Jhangiani, Shalini N.; Bi, Weimin; Du, Haowei; Gibbs, Richard A.; Posey, Jennifer E.; Calame, Daniel G.; Zaki, Maha S.; Lupski, James R.
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Implementing evidence-based assertions of clinical actionability in the context of secondary fi ndings: Updates from the ClinGen Actionability Working Group
err2024-08-01
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PREAI
errPak, Christine M.; Gilmore, Marian J.; Bulkley, Joanna E.; Chakraborty, Pranesh; Dagan-Rosenfeld, Orit; Foreman, Ann Katherine M.; Gollob, Michael H.; Jenkins, Charisma L.; Katz, Alexander E.; Lee, Kristy; Meeks, Naomi; O'Daniel, Julianne M.; Posey, Jennifer E.; Rego, Shannon M.; Shah, Neethu; Steiner, Robert D.; Stergachis, Andrew B.; Subramanian, Sai Lakshmi; Trotter, Tracy; Wallace, Kathleen; Williams, Marc S.; Goddard, Katrina A. B.; Buchanan, Adam H.; Manickam, Kandamurugu; Powell, Bradford; Hunter, Jessica Ezzell
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
err2024-07-01
err3
errOAAI
errDeb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic
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Novel Lipodystrophy Genotype Correlations Identified through the Rare and Atypical Diabetes Network (RADIANT)
err2024-06-14
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PREAI
errBroome, David; Foss-Freitas, Maria C.; Sabo, Aniko; Saeed, Zeb I.; Udler, Miriam; Pollin, Toni I.; Flannick, Jason; Maloney, Kristin A.; Gilio, Donatella; Guler, Merve Celik; Kaba, Diarratou; Gomes, Anabela Dill; Posey, Jennifer; Tosur, Mustafa; Stone, Stephen I.; Kreienkamp, Raymond J.; Hirsch, Irl B.; Florez, Jose C.; Balasubramanyam, Ashok; Philipson, Louis H.; Pihoker, Catherine; Oral, Elif A.
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Erratum. Atypical Diabetes: What Have We Learned and What Does the Future Hold? Diabetes Care 2024;47:770-781
err2024-06-11
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errOAAI
errStone, Stephen I.; Balasubramanyam, Ashok; Posey, Jennifer E.
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