Posey Lab

Close up DNA patterns, genetic analysis, DNA sequencing, and genome structure.

Principal Investigator

  • Jennifer E Posey, MD, PhD

    Profile Headshot
    • Chief, Division of Clinical Genetics, Department of Pediatrics
    • Chief Genomics Officer, Columbia University Irving Medical Center

The Posey Lab advances the diagnosis and molecular characterization of undiagnosed diseases by investigating disease mechanisms, building genotype-phenotype correlations, and describing novel disease markers. We translate these insights into new diagnoses and therapeutic strategies, with the goal of closing the gap between biological understanding and patient care.  

Led by Dr. Jennifer E Posey, a physician-scientist at Columbia University Irving Medical Center and co-investigator of the GREGoR Consortium, the lab pursues interdisciplinary collaboration and partnerships to advance precision medicine and close persistent gaps in genomic healthcare access and equity. 

Lab Members

Current Members

  • Shagheyegh Beheshti

    • Graduate Student
    Shagheyegh Beheshti

  • Ryan German, MS, CGC

    • Research Genetic Counselor
    Ryan German, MS, CGC

  • Chloe Munderloh

    • Graduate Student
    Chloe Munderloh

Past Members

  • Scott Barish, PhD

  • Raymond Belanger Deloge, MS, CGC

  • Mary Fang, MD

  • Brandon Garcia, PhD

  • Nikhita Gogate, PhD

  • Yidan Li

  • Andy Rivera-Munoz, PhD

  • Lauren Westerfield, MS, CGC

  • Priya Yelemani

  • Rhia Yi, MD

Select Publications

  • Jay KL, Gogate N, Hall PI, Ezell KM, Andrews JC, Jangam SV, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch EA; Brain Gene Registry Consortium; Undiagnosed Diseases Network; Yamamoto S, Kanca O, Bellen HJ, Dierick HA, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Pruthi S, Chen HC, Posey JE, Wangler MF. Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15;7(1):100541. doi: 10.1016/j.xhgg.2025.100541. Epub 2025 Oct 31. PMID: 41174879; PMCID: PMC12681531. 

  • Bereshneh AH, Wilson KA, Pan X, Hannan SB, Cooper MA, Diaz J, Leon E, Moses TM, Azamian MS, Scott DA, Billie Au PY, Appendino JP, Scheffer IE, Kaspi A, Bahlo M, Hildebrand MS, Morgan AT, Ekure E; Baylor College of Medicine Center for Precision Medicine Models; Shulman JM, Hildebrandt F, Posey JE, Kruszka P, Vilain E, Yamamoto S, Kanca O, Berger S, Bellen HJ. Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 Jan 16;28(4):101685. doi: 10.1016/j.gim.2026.101685. Epub ahead of print. PMID: 41556274.

  • Rivera-Munoz EA, Zhao XE, Rosenfeld JA, Luna PN, Shaw CA, Posey JE, Scott DA. Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+). Eur J Hum Genet. 2025 Dec;33(12):1606-1615. doi: 10.1038/s41431-025-01929-3. Epub 2025 Sep 6. PMID: 40913078; PMCID: PMC12669671.

  • Beheshti ST, Jolly A, Saad AK, Du H, Westerfield LE, Munderloh C, Kalra D, Wu Y, Chen Y, Gingras MC, Jhangiani SN, Yilmaz S, Zaki MS, Calame DG, Pehlivan D, Gibbs RA, Lewis RA, Lupski JR, Posey JE. Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families. medRxiv [Preprint]. 2025 Dec 29:2025.12.28.25342917. doi: 10.64898/2025.12.28.25342917. PMID: 41503485; PMCID: PMC12772676. 

  • Du H, Lun MY, Gagarina L, Bengtsson JD, Grochowski CM, Mehaffey MG, Hwang JP, Jhangiani SN, Bhamidipati SV, Muzny DM, Poli MC, Ochoa S, Chinn IK, Lindstrand A, Posey JE, Gibbs RA, Liu P, Lupski JR, Carvalho CMB. An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 Dec 31;18(1):16. doi: 10.1186/s13073-025-01593-8. PMID: 41470026; PMCID: PMC12866024. 

  • Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT; GREGoR Partner Members; Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. GREGoR: accelerating genomics for rare diseases. Nature. 2025 Nov;647(8089):331-342. doi: 10.1038/s41586-025-09613-8. Epub 2025 Nov 12. PMID: 41224980. 

  • Garcia BT, Westerfield L, Yelemali P, Gogate N, Rivera-Munoz EA, Du H, Dawood M, Jolly A, Lupski JR, Posey JE. Improving automated deep phenotyping through large language models using retrieval-augmented generation. Genome Med. 2025 Aug 18;17(1):91. doi: 10.1186/s13073-025-01521-w. PMID: 40826123; PMCID: PMC12359922. 

  • Relan S, Alarcon G, Guffey D, Minard CG, Fang ME, Timmons K, Sonabend RY, Tosur M, Redondo MJ, Posey JE. Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population. J Clin Endocrinol Metab. 2026 Jan 21;111(2):e512-e521. doi: 10.1210/clinem/dgaf360. PMID: 40554608. 

  • Gogate, N., Jolly, A., Rosenfeld, J. A., Bahena-Carbajal, P., Bernstein, J. A., Bonner, D., Busa, T., Cristian, I., D'Souza, P., Friedman, J., Gorokhova, S., Haaf, T., Herman, I., Isin, U. U., Jhangiani, S. N., Johnson, I., Lenberg, J., Macnamara, E. F., Maroofian, R., Undiagnosed Diseases Network, Melissa Racobaldo, … Posey, J. E. (2025). Domain specific phenotypic expansion associated with variants in MACF1. medRxiv : the preprint server for health sciences, 2025.06.26.25330137. https://doi.org/10.1101/2025.06.26.25330137 

  • Coban-Akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Bozkurt-Yozgatli T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CMB, Shaw CA, Posey JE, Valle D, Lupski JR. The impact of the Turkish population variome on the genomic architecture of rare disease traits. Genet Med Open. 2024 Feb 14;2:101830. doi: 10.1016/j.gimo.2024.101830. PMID: 39669594; PMCID: PMC11613692. 

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