Publications

Smith JJ, Timoshevskaya N, Ye C, Holt C, Keinath MC, Parker HJ, Cook ME, Hess JE, Narum SR, Lamanna F, Kaessmann H, Timoshevskiy VA, Waterbury CKM, Saraceno C, Wiedemann LM, Robb SMC, Baker C, Eichler EE, Hockman D, Sauka-Spengler T, Yandell M, Krumlauf R, Elgar G, Amemiya CT (2018).

Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution.

Nat Genet, 50(11), 1617.
Majoros WH, Holt C, Campbell MS, Ware D, Yandell M, Reddy TE (2018

Predicting gene structure changes resulting from genetic variants via exon definition features.

Bioinformatics, 34(21), 3616-3623.
Vickrey AI, Bruders R, Kronenberg Z, Mackey E, Bohlender RJ, Maclary ET, Maynez R, Osborne EJ, Johnson KP, Huff CD, Yandell M, Shapiro MD (2018).

Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon.

Elife, 7.
Liu MJ, Sugimoto K, Uygun S, Panchy N, Campbell MS, Yandell M, Howe GA, Shiu SH (2018).

Regulatory Divergence in Wound-Responsive Gene Expression between Domesticated and Wild Tomato.

Plant Cell, 30(7), 1445-1460.
Peterson KA, Yoshigi M, Hazel MW, Delker DA, Lin E, Krishnamurthy C, Consiglio N, Robson J, Yandell M, Clayton F (2018).

RNA sequencing confirms similarities between PPI-responsive oesophageal eosinophilia and eosinophilic oesophagitis.

Aliment Pharmacol Ther, 48(2), 219-225.
Holt C, Campbell M, Keays DA, Edelman N, Kapusta A, Maclary E, T Domyan E, Suh A, Warren WC, Yandell M, Gilbert MTP, Shapiro MD (2018).

Improved Genome Assembly and Annotation for the Rock Pigeon (Columba livia).

G3 (Bethesda), 8(5), 1391-1398.
Smith JJ, Timoshevskaya N, Ye C, Holt C, Keinath MC, Parker HJ, Cook ME, Hess JE, Narum SR, Lamanna F, Kaessmann H, Timoshevskiy VA, Waterbury CKM, Saraceno C, Wiedemann LM, Robb SMC, Baker C, Eichler EE, Hockman D, Sauka-Spengler T, Yandell M, Krumlauf R, Elgar G, Amemiya CT (2018).

Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution.

Nat Genet, 50(5), 768.
Yu Y, Hu H, Bohlender RJ, Hu F, Chen JS, Holt C, Fowler J, Guthery SL, Scheet P, Hildebrandt MAT, Yandell M, Huff CD (2017).

XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets.

Nucleic Acids Res, 46(6), e32.
Flygare S, Hernandez EJ, Phan L, Moore B, Li M, Fejes A, Hu H, Eilbeck K, Huff C, Jorde L, G Reese M, Yandell M (2018).

The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.

BMC Bioinformatics, 19(1), 57.
Manuck TA, Watkins WS, Esplin MS, Biggio J, Bukowski R, Parry S, Zhan H, Huang H, Andrews W, Saade G, Sadovsky Y, Reddy UM, Ilekis J, Yandell M, Varner MW, Jorde LB, Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD Genomics and Proteomics Network for Preterm Birth Research GPN-PBR (2018).

Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth: a case-control study.

BJOG, 125(3), 343-350.
Smith JJ, Timoshevskaya N, Ye C, Holt C, Keinath MC, Parker HJ, Cook ME, Hess JE, Narum SR, Lamanna F, Kaessmann H, Timoshevskiy VA, Waterbury CKM, Saraceno C, Wiedemann LM, Robb SMC, Baker C, Eichler EE, Hockman D, Sauka-Spengler T, Yandell M, Krumlauf R, Elgar G, Amemiya CT (2018).

The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution.

Nat Genet, 50(2), 270-277.
Al-Agha AE, Ahmed IA, Nuebel E, Moriwaki M, Moore B, Peacock KA, Mosbruger T, Neklason DW, Jorde LB, Yandell M, Welt CK (2018).

Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.

J Clin Endocrinol Metab, 103(2), 555-563.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M (2017).

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nat Genet, 49(11), 1593-1601.
Eilbeck K, Quinlan A, Yandell M (2017).

Settling the score: variant prioritization and Mendelian disease.

Nat Rev Genet, 18(10), 599-612.
Schlaberg R, Ampofo K, Tardif KD, Stockmann C, Simmon KE, Hymas W, Flygare S, Kennedy B, Blaschke A, Eilbeck K, Yandell M, McCullers JA, Williams DJ, Edwards K, Arnold SR, Bramley A, Jain S, Pavia AT (2017).

Human Bocavirus Capsid Messenger RNA Detection in Children With Pneumonia.

J Infect Dis, 216(6), 688-696.
Neale DB, McGuire PE, Wheeler NC, Stevens KA, Crepeau MW, Cardeno C, Zimin AV, Puiu D, Pertea GM, Sezen UU, Casola C, Koralewski TE, Paul R, Gonzalez-Ibeas D, Zaman S, Cronn R, Yandell M, Holt C, Langley CH, Yorke JA, Salzberg SL, Wegrzyn JL (2017).

The Douglas-Fir Genome Sequence Reveals Specialization of the Photosynthetic Apparatus in Pinaceae. 

G3 (Bethesda), 7(9), 3157-3167.
Li Q, Barghi N, Lu A, Fedosov AE, Bandyopadhyay PK, Lluisma AO, Concepcion GP, Yandell M, Olivera BM, Safavi-Hemami H (2017).

Divergence of the Venom Exogene Repertoire in Two Sister Species of Turriconus.

Genome Biol Evol, 9(9), 2211-2225.
67. Robinson SD, Li Q, Lu A, Bandyopadhyay PK, Yandell M, Olivera BM, Safavi-Hemami H (2017).

The Venom Repertoire of Conus gloriamaris (Chemnitz, 1777), the Glory of the Sea.

Mar Drugs, 15(5).
Majoros WH, Campbell MS, Holt C, DeNardo EK, Ware D, Allen AS, Yandell M, Reddy TE (2017).

High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE.

Bioinformatics, 33(10), 1437-1446.
Schlaberg R, Queen K, Simmon K, Tardif K, Stockmann C, Flygare S, Kennedy B, Voelkerding K, Bramley A, Zhang J, Eilbeck K, Yandell M, Jain S, Pavia AT, Tong S, Ampofo K (2017).

Viral Pathogen Detection by Metagenomics and Pan-Viral Group Polymerase Chain Reaction in Children With Pneumonia Lacking Identifiable Etiology.

J Infect Dis, 215(9), 1407-1415.
Robinson SD, Li Q, Bandyopadhyay PK, Gajewiak J, Yandell M, Papenfuss AT, Purcell AW, Norton RS, Safavi-Hemami H (2017).

Hormone-like peptides in the venoms of marine cone snails.

Gen Comp Endocrinol, 244, 11-18.
Moriwaki M, Moore B, Mosbruger T, Neklason DW, Yandell M, Jorde LB, Welt CK (2017).

POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women.

J Endocr Soc, 1(3), 162-173.
Cone KR, Kronenberg ZN, Yandell M, Elde NC (2017).

Emergence of a Viral RNA Polymerase Variant during Gene Copy Number Amplification Promotes Rapid Evolution of Vaccinia Virus.

J Virol, 91(4).
Campbell M, Oakeson KF, Yandell M, Halpert JR, Dearing D (2016).

The draft genome sequence and annotation of the desert woodrat Neotoma lepida.

Genom Data, 9, 58-9.

Zimmerman RM, Hernandez EJ, Yandell M, Tristani-Firouzi M, Silver RM, Grobman W, Haas D, Saade G, Steller J, Blue NR (2025).

AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios.

BMC Pregnancy Childbirth, 25(1), 80.

Zimmerman RM, Hernandez EJ, Yandell M, Tristani-Firouzi M, Silver RM, Grobman W, Haas D, Saade G, Steller J, Blue NR (2025).

AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios.

BMC Pregnancy Childbirth, 25(1), 80.

Zimmerman RM, Hernandez EJ, Yandell M, Tristani-Firouzi M, Silver RM, Grobman W, Haas D, Saade G, Steller J, Blue NR (2025).

AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios.

BMC Pregnancy Childbirth, 25(1), 80.