Publications – Page 2

Maclary ET, Phillips B, Wauer R, Boer EF, Bruders R, Gilvarry T, Holt C, Yandell M, Shapiro MD (2021).

Mol Biol Evol, 38(12), 5376-5390.

Hberle J, Moore MB, Haskins N, Rfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L (2021).

Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

Hum Mutat, 42(12), 1624-1636.

Boer EF, Van Hollebeke HF, Maclary ET, Holt C, Yandell M, Shapiro MD (2021).

A ROR2 coding variant is associated with craniofacial variation in domestic pigeons.

Curr Biol, 31(22), 5069-5076.e5.

Hateley S, Lopez-Izquierdo A, Jou CJ, Cho S, Schraiber JG, Song S, Maguire CT, Torres N, Riedel M, Bowles NE, Arrington CB, Kennedy BJ, Etheridge SP, Lai S, Pribble C, Meyers L, Lundahl D, Byrnes J, Granka JM, Kauffman CA, Lemmon G, Boyden S, Scott Watkins W, Karren MA, Knight S, Brent Muhlestein J, Carlquist JF, Anderson JL, Chahine KG, Shah KU, Ball CA, Benjamin IJ, Yandell M, Tristani-Firouzi M (2021).

The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.

Nat Commun, 12(1), 6442.

Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK (2021).

Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency.

J Clin Endocrinol Metab, 107(3), 685-714.

De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Lscher BS, Franke A, Boone B, Levy SE, unap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF (2021).

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome Med, 13(1), 153.

Lemmon G, Wesolowski S, Henrie A, Tristani-Firouzi M, Yandell M (2021).

A Poisson binomial-based statistical testing framework for comorbidity discovery across electronic health record datasets.

Nat Comput Sci, 1(10), 694-702.

Lin E, Hahn AW, Nussenzveig RH, Wesolowski S, Sayegh N, Maughan BL, McFarland T, Rathi N, Sirohi D, Sonpavde G, Swami U, Kohli M, Rich T, Sartor O, Yandell M, Agarwal N (2021).

Identification of Somatic Gene Signatures in Circulating Cell-Free DNA Associated with Disease Progression in Metastatic Prostate Cancer by a Novel Machine Learning Platform.

Oncologist, 26(9), 751-760.

Tollis M, Ferris E, Campbell MS, Harris VK, Rupp SM, Harrison TM, Kiso WK, Schmitt DL, Garner MM, Aktipis CA, Maley CC, Boddy AM, Yandell M, Gregg C, Schiffman JD, Abegglen LM (2021).

Elephant Genomes Reveal Accelerated Evolution in Mechanisms Underlying Disease Defenses.

Mol Biol Evol, 38(9), 3606-3620.

Malone Jenkins S, Palmquist R, Kapron AL, Torr C, Best DH, Karren MA, Brunelli L, Yandell M, Tristani-Firouzi M, Dimmock D, Watts B, Botkin JR, Johnson A, Bonkowsky JL (2021).

Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program

J Clin Transl Sci, 5(1), e177.

Fouks B, Brand P, Nguyen HN, Herman J, Camara F, Ence D, Hagen DE, Hoff KJ, Nachweide S, Romoth L, Walden KKO, Guigo R, Stanke M, Narzisi G, Yandell M, Robertson HM, Koeniger N, Chantawannakul P, Schatz MC, Worley KC, Robinson GE, Elsik CG, Rueppell O (2021).

The genomic basis of evolutionary differentiation among honey bees.

Genome Res.

37. Musfee FI, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Taylor DM, Tristani-Firouzi M, Watkins WS, Yandell M, Mitchell LE (2021).

Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.

Genes (Basel), 12(5).

Bogenschutz EL, Fox ZD, Farrell A, Wynn J, Moore B, Yu L, Aspelund G, Marth G, Yandell M, Shen Y, Chung WK, Kardon G (2020).

Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.

HGG Adv, 1(1).

Shah RU, Mutharasan RK, Ahmad FS, Rosenblatt AG, Gay HC, Steinberg BA, Yandell M, Tristani-Firouzi M, Klewer J, Mukherjee R, Lloyd-Jones DM (2020).

Development of a Portable Tool to Identify Patients With Atrial Fibrillation Using Clinical Notes From the Electronic Medical Record.

Circ Cardiovasc Qual Outcomes, 13(10), e006516.

Crandall H, Kapusta A, Killpack J, Heyrend C, Nilsson K, Dickey M, Daly JA, Ampofo K, Pavia AT, Mulvey MA, Yandell M, Hulten KG, Blaschke AJ (2020).

Clinical and molecular epidemiology of invasive Staphylococcus aureus infection in Utah children; continued dominance of MSSA over MRSA.

PLoS One, 15(9), e0238991.

Bjrn-Yoshimoto WE, Ramiro IBL, Yandell M, McIntosh JM, Olivera BM, Ellgaard L, Safavi-Hemami H (2020)

Curses or Cures: A Review of the Numerous Benefits Versus the Biosecurity Concerns of Conotoxin Research.

Biomedicines, 8(8).

Dong ZM, Lin E, Wechsler ME, Weller PF, Klion AD, Bochner BS, Delker DA, Hazel MW, Fairfax K, Khoury P, Akuthota P, Merkel PA, Dyer AM, Langford C, Specks U, Gleich GJ, Chinchilli VM, Raby B, Yandell M, Clayton F (2020).

Pulmonary Eosinophilic Granulomatosis with Polyangiitis Has IgG4 Plasma Cells and Immunoregulatory Features.

Am J Pathol, 190(7), 1438-1448.

Bruders R, Van Hollebeke H, Osborne EJ, Kronenberg Z, Maclary E, Yandell M, Shapiro MD (2020).

A copy number variant is associated with a spectrum of pigmentation patterns in the rock pigeon (Columba livia).

PLoS Genet, 16(5), e1008274

Lu A, Watkins M, Li Q, Robinson SD, Concepcion GP, Yandell M, Weng Z, Olivera BM, Safavi-Hemami H, Fedosov AE (2020).

Transcriptomic Profiling Reveals Extraordinary Diversity of Venom Peptides in Unexplored Predatory Gastropods of the Genus Clavus.

Genome Biol Evol, 12(5), 684-700.

Ledet EM, Lilly MB, Sonpavde G, Lin E, Nussenzveig RH, Barata PC, Yandell M, Nagy RJ, Kiedrowski L, Agarwal N, Sartor O (2019).

Comprehensive Analysis of AR Alterations in Circulating Tumor DNA from Patients with Advanced Prostate Cancer.

Oncologist, 25(4), 327-333.

Ledet EM, Lilly MB, Sonpavde G, Lin E, Nussenzveig RH, Barata PC, Yandell M, Nagy RJ, Kiedrowski L, Agarwal N, Sartor O (2019).

Comprehensive Analysis of AR Alterations in Circulating Tumor DNA from Patients with Advanced Prostate Cancer.

Oncologist.

Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M (2019).

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Nat Commun, 10(1), 4722

Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ, Childhood Liver Disease Research Network ChiLDReN (2019).

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.

Hepatology, 70(3), 899-910.

Li Q, Watkins M, Robinson SD, Safavi-Hemami H, Yandell M (2018

Discovery of Novel Conotoxin Candidates Using Machine Learning.

Toxins (Basel), 10(12).