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1. Lambda and (Lambda)over-bar polarization from deep in elastic muon scattering

Author

Adams, MR, Aderholz, M, Aid, S, Anthony, PL, Ashery, D, Averill, DA, Baker, MD, Baller, BR, Banerjee, A, Bhatti, AA, Bratzler, U, Braun, HM, Carroll, TJ, Clark, HL, Conrad, JM, Davisson, R, Derado, I, Dietrich, FS, Dougherty, W, Dreyer, T, Eckardt, V, Ecker, U, Erdmann, M, Fang, GY, Figiel, J, Finlay, RW, Gebauer, HJ, Geesaman, DF, Griffioen, KA, Guo, RS, Haas, J, Halliwell, C, Hantke, D, Hicks, KH, Jackson, HE, Jancso, G, Jansen, DM, Jin, Z, Kadija, K, Kaufmann, S, Kennedy, RD, Kinney, ER, Kobrak, HGE, Kotwal, AV, Kunori, S, Lenski, M, Lord, JJ, Lubatti, HJ, McLeod, D, Madden, P, Manz, A, Melanson, H, Michael, DG, Montgomery, HE, Morfin, JG, Nickerson, RB, Novak, J, Olkiewicz, K, Osborne, L, Otten, R, Papavassiliou, V, Pawlik, B, Pipkin, FM, Potterveld, DH, Roser, A, Ryan, JJ, Salgado, CW, Schellman, H, Schmitt, M, Schmitz, N, Siegert, G, Skuja, A, Snow, GA, Soldner-Rembold, S, Spentzouris, P, Stopa, P, Swanson, RA, Pop, VT, Venkataramania, H, Wilhelm, M, Wilson, R, Wittek, W, Wolbers, SA, Zghiche, A, and Zhao, T

Published
2000

2. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Author

Robinson K, Singh SK, Walkup RB, Fawwal DV, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Chung WK, Cutler DJ, Epstein MP, Fashina A, Gasser B, Gowans LJ, Hecht JT, Uribe LM, Scott DA, Shaw GM, Thomas MA, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Murray JC, Cornell RA, and Leslie-Clarkson EJ

Abstract

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis. Both IRF6 and GRHL3 function in a transcriptional regulatory network governing differentiation of periderm, a single layer of epithelial cells that prevents pathological adhesions during palatogenesis. Disruption of this layer results in a spectrum of phenotypes ranging from lip pits and OFCs to severe pterygia and other congenital anomalies that can be incompatible with life. Understanding the mechanisms of peridermopathies is vital in improving health outcomes for affected individuals. We reasoned that genes encoding additional members of the periderm gene regulatory network, including kinases acting upstream of IRF6 (i.e., atypical protein kinase C family members, RIPK4, and CHUK), are candidates to harbor variants resulting in VWS. Consistent with this prediction, we identified 6 de novo variants (DNs) and 11 rare variants in PRKCI , an atypical protein kinase C, in 17 individuals with clinical features consistent with syndromic OFCs and peridermopathies. Of the identified DNs, 4 were identical p.(Asn383Ser) variants in unrelated individuals with syndromic OFCs, indicating a likely hotspot mutation. We also performed functional validation of 12 variants using the enveloping layer in zebrafish embryos, a structure analogous to the periderm. Three patient-specific alleles (p.Arg130His, p.(Asn383Ser), and p.Leu385Phe) were confirmed to be loss-of-function variants. In summary, we identified PRKCI as a novel causal gene for VWS and syndromic OFC with other features of peridermopathies., Competing Interests: Declaration of interests The authors declare no competing interests.

Published
2025
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3. Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.

Author

Robinson K, Parrish R, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Gowans LJ, Hecht JT, Moreno L, Murray JC, Shaw GM, Weinberg SM, Brand H, Marazita ML, Cutler DJ, Epstein MP, Yang J, and Leslie EJ

Abstract

Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural birth defects and are often divided into cleft lip with or without cleft palate (CL/P) and cleft palate only (CP). Previous studies have found sex-specific risks for CL/P, but these risks have yet to be evaluated in CP. CL/P is more common in males and CP is more frequently observed in females, so we hypothesized there would also be sex-specific differences for CP. Using a trio-based cohort, we performed sex-stratified genome-wide association studies (GWAS) based on proband sex followed by a genome-wide gene-by-sex (GxS) interaction testing. There were 13 loci significant for GxS interactions, with the top finding in LTBP1 (RR=3.37 [2.04 - 5.56], p=1.93x10 -6 ). LTBP1 plays a role in regulating TGF-B bioavailability, and knockdown in both mice and zebrafish lead to craniofacial anomalies. Further, there is evidence for differential expression of LTBP1 between males and females in both mice and humans. Therefore, we tested the association between the imputed genetically regulated gene expression of genes with significant GxS interactions and the CP phenotype. We found significant association for LTBP1 in cell cultured fibroblasts in female probands (p=0.0013) but not in males. Taken altogether, we show there are sex-specific risks for CP that are otherwise undetectable in a combined sex cohort, and LTBP1 is a candidate risk gene, particularly in females.

Published
2024
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4. Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.

Author

Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, and Leslie EJ

Abstract

Orofacial clefts (OFCs) are the most common craniofacial birth defects and are often categorized into two etiologically distinct groups: cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP). CP is highly heritable, but there are still relatively few established genetic risk factors associated with its occurrence compared to CL/P. Historically, CP has been studied as a single phenotype despite manifesting across a spectrum of defects involving the hard and/or soft palate. We performed GWAS using transmission disequilibrium tests using 435 case-parent trios to evaluate broad risks for any cleft palate (ACP, n=435), as well as subtype-specific risks for any cleft soft palate (CSP, n=259) and any cleft hard palate (CHP, n=125). We identified a single genome-wide significant locus at 9q33.3 (lead SNP rs7035976, p=4.24×10 -8 ) associated with CHP. One gene at this locus, angiopoietin-like 2 ( ANGPTL2 ), plays a role in osteoblast differentiation. It is expressed in craniofacial tissue of human embryos, as well as in the developing mouse palatal shelves. We found 19 additional loci reaching suggestive significance (p<5×10 -6 ), of which only one overlapped between groups (chromosome 17q24.2, ACP and CSP). Odds ratios (ORs) for each of the 20 loci were most similar across all three groups for SNPs associated with the ACP group, but more distinct when comparing SNPs associated with either the CSP or CHP groups. We also found nominal evidence of replication (p<0.05) for 22 SNPs previously associated with cleft palate (including CL/P). Interestingly, most SNPs associated with CL/P cases were found to convey the opposite effect in those replicated in our dataset for CP only. Ours is the first study to evaluate CP risks in the context of its subtypes and we provide newly reported associations affecting the broad risk for CP as well as evidence of subtype-specific risks.

Published
2023
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5. Proton and deuteron structure functions in muon scattering at 470 GeV.

Author

Adams MR, Aïd S, Anthony PL, Averill DA, Baker MD, Baller BR, Banerjee A, Bhatti AA, Bratzler U, Braun HM, Carroll TJ, Clark HL, Conrad JM, Davisson R, Derado I I, Dietrich FS, Dougherty W, Dreyer T, Eckardt V V, Ecker U, Erdmann M, Fang GY, Figiel J, Finlay RW, Gebauer HJ, Geesaman DF, Griffioen KA, Guo RS, Haas J, Halliwell C, Hantke D, Hicks KH, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Jin Z, Kaufman S, Kennedy RD, Kinney ER, Kobrak HG, Kotwal AV, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Madden P, Magill S, Manz A, Melanson H, Michael DG, Montgomery HE, Morfin JG, Nickerson RB, Novak J, O'Day S, Olkiewicz K, Osborne L, Otten R, Papavassiliou V V, Pawlik B, Pipkin FM, Potterveld DH, and Ramberg EJ

Published
1996
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6. Extraction of the Ratio Fn2/Fp2 from Muon-Deuteron and Muon-Proton Scattering at Small x and Q2.

Author

Adams MR, Aïd S, Anthony PL, Averill DA, Baker MD, Baller BR, Banerjee A, Bhatti AA, Bratzler U, Braun HM, Carroll TJ, Clark HL, Conrad JM, Davisson R, Derado I I, Dhawan SK, Dietrich FS, Dougherty W, Dreyer T, Eckardt V V, Ecker U, Erdmann M, Fang GY, Figiel J, Finlay RW, Gebauer HJ, Geesaman DF, Griffioen KA, Guo RS, Haas J, Halliwell C, Hantke D, Hicks KH, Hughes VW, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Jin Z, Kaufman S, Kennedy RD, Kinney ER, Kobrak HG, Kotwal AV, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Madden P, Magill S, Manz A, Melanson H, Michael DG, Montgomery HE, Morfin JG, Nickerson RB, Novak J, O'Day S, Olkiewicz K, Osborne L, Otten R, Papavassiliou V V, Pawlik B, and Pipkin FM

Published
1995
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7. Nuclear decay following deep inelastic scattering of 470 GeV muons.

Author

Adams MR, Aïd S, Anthony PL, Averill DA, Baker MD, Baller BR, Banerjee A, Bhatti AA, Bratzler U, Braun HM, Breidung H, Busza W, Carroll TJ, Clark HL, Conrad JM, Davisson R, Derado I I, Dhawan SK, Dietrich FS, Dougherty W, Dreyer T, Eckardt V V, Ecker U, Erdmann M, Fang GY, Figiel J, Finlay RW, Gebauer HJ, Geesaman DF, Griffioen KA, Guo RS, Haas J, Halliwell C, Hantke D, Hicks KH, Hughes VW, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Jin Z, Kaufman S, Kennedy RD, Kinney ER, Kirk T, Kobrak HG, Kotwal AV, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Madden P, Magill S, Manz A, Melanson H, Michael DG, Montgomery HE, Morfin JG, Nickerson RB, O'Day S, Olkiewicz K, Osborne L, Otten R, and Papavassiliou V V

Published
1995
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8. Measurement of nuclear transparencies from exclusive rho 0 meson production in muon-nucleus scattering at 470 GeV.

Author

Adams MR, Aïd S, Anthony PL, Averill DA, Baker MD, Baller BR, Banerjee A, Bhatti AA, Bratzler U, Braun HM, Breidung H, Busza W, Carroll TJ, Clark HL, Conrad JM, Davisson R, Derado I I, Dhawan SK, Dietrich FS, Dougherty W, Dreyer T, Eckardt V V, Ecker U, Erdmann M, Faller F, Fang GY, Figiel J, Finlay RW, Gebauer HJ, Geesaman DF, Griffioen KA, Guo RS, Haas J, Halliwell C, Hantke D, Hicks KH, Hughes VW, Jackson HE, Jancso G, Jansen DM, Jin Z, Kaufman S, Kennedy RD, Kinney ER, Kirk T, Kobrak HG, Kotwal AV, Kunori S, Lancaster S, Lord JJ, Lubatti HJ, McLeod D, Madden P, Magill S, Manz A, Melanson H, Michael DG, Montgomery HE, Morfin JG, Nickerson RB, O'Day S, Olkiewicz K, Osborne L, and Otten R

Published
1995
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9. Scaled energy (z) distributions of charged hadrons observed in deep-inelastic muon scattering at 490 GeV from xenon and deuterium targets.

Author

Adams MR, Aïd S, Anthony PL, Baker MD, Bartlett J, Bhatti AA, Braun HM, Busza W, Carroll T, Conrad JM, Coutrakon G, Davisson R, Derado I I, Dhawan SK, Dougherty W, Dreyer T, Dziunikowska K, Eckardt V V, Ecker U, Erdmann M, Eskreys A, Figiel J, Gebauer HJ, Geesaman DF, Gilman R, Green MC, Haas J, Halliwell C, Hanlon J, Hantke D, Hughes VW, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Kaufman S, Kennedy RD, Kirk T, Kobrak HG, Krzywdzinski S, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Magill S, Malecki P, Manz A, Melanson H, Michael DG, Mohr W, Montgomery HE, Morfin JG, Nickerson RB, O'Day S, Olkiewicz K, Osborne L, Papavassiliou V V, Pawlik B, Pipkin FM, Ramberg EJ, Röser A, Ryan JJ, Salvarani A, and Schellman H

Published
1994
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10. Q2 dependence of the average squared transverse energy of jets in deep-inelastic muon-nucleon scattering with comparison to perturbative QCD predictions.

Author

Adams MR, Arndotïd S, Anthony PL, Baker MD, Bartlett J, Bhatti AA, Braun HM, Busza W, Conrad JM, Coutrakon G, Davisson R, Derado I I, Dhawan SK, Dougherty W, Dreyer T, Dziunikowska K, Eckardt V V, Ecker U, Erdmann M, Eskreys A, Figiel J, Gebauer HJ, Geesaman DF, Gilman R, Green MC, Haas J, Halliwell C, Hanlon J, Hantke D, Hughes VW, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Kaufman S, Kennedy RD, Kirk T, Kobrak HG, Krzywdzinski S, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Magill S, Malecki P, Manz A, Melanson H, Michael DG, Mohr W, Montgomery HE, Morfin JG, Nickerson RB, O'Day S, Olkiewicz K, Osborne L, Papavassiliou V V, Pawlik B, Pipkin FM, Ramberg EJ, Röser A, Ryan JJ, Salgado CW, Salvarani A, and Schellman H

Published
1994
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11. Perturbative QCD effects observed in 490 GeV deep-inelastic muon scattering.

Author

Adams MR, Aïd S, Anthony PL, Baker MD, Bartlett J, Bhatti AA, Braun HM, Busza W, Conrad JM, Coutrakon G, Davisson R, Derado I I, Dhawan SK, Dougherty W, Dreyer T, Dziunikowska K, Eckardt V V, Ecker U, Erdmann M, Eskreys A, Figiel J, Gebauer HJ, Geesaman DF, Gilman R, Green MC, Haas J, Halliwell C, Hanlon J, Hantke D, Hughes VW, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Kaufman S, Kennedy RD, Kirk T, Kobrak HG, Krzywdzinski S, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Magill S, Malecki P, Manz A, Melanson H, Michael DG, Mohr W, Montgomery HE, Morfin JG, Nickerson RB, O'Day S, Olkiewicz K, Osborne L, Papavassiliou V V, Pawlik B, Pipkin FM, Ramberg EJ, Röser A, Ryan JJ, Salgado CW, Salvarani A, and Schellman H

Published
1993
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12. Systematic investigation of scaled factorial cumulant moments for nucleus-nucleus interactions.

Author

Adamovich MI, Aggarwal MM, Alexandrov YA, Andreeva NP, Anson ZV, Arora R, Avetyan FA, Badyal SK, Basova E, Bazarov IK, Bhalla KB, Bhasin A, Bhatia VS, Bogdanov VG, Bubnov VI VI, Burnett TH, Cai X, Carshiev DA, Chasnicov IY, Chernova LP, Chernyavski MM, Eligbaeva GZ, Eremenko LE, Gaitinov AS, Ganssauge ER, Garpman S, Gerassimov SG, Grote JG, Gulamov KG, Gupta SK, Gupta VK, Heckman HH, Huang H, Jacobsson B, Judek B, Kachroo S, Kalyachkina GS, Kanygina EK, Karabova M, Kharlamov SP, Kitroo S, Koss T, Krasnov SA, Kumar V V, Lal P, Larionova VG, Lepetan VN, Liu LS, Lokanathan S, Lord JJ, Lukicheva NS, Luo SB, Mangotra LK, Marutyan NA, Maslennikova NV, Mittra IS, Mookerjee S, Nasyrov SZ, Navotny VS, Nystrand J, Orlova GI, Otterlund I I, Palsania H, and Peresadko NG

Published
1993
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14. First measurements of jet production rates in deep-inelastic lepton-proton scattering.

Author

Adams MR, Aïd S, Anthony PL, Baker MD, Bartlett J, Bhatti AA, Braun HM, Busza W, Conrad JM, Coutrakon G, Davisson R, Derado I I, Dhawan SK, Dougherty W, Dreyer T, Dziunikowska K, Eckardt V V, Ecker U, Erdmann M, Eskreys A, Figiel J, Gebauer HJ, Geesaman DF, Gilman R, Green MC, Haas J, Halliwell C, Hanlon J, Hantke D, Hughes VW, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Kaufman S, Kennedy RD, Kobrak HG, Krzywdzinski S, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Magill S, Malecki P, Manz A, Michael DG, Mohr W, Montgomery HE, Morfin JG, Nickerson RB, O'Day S, Olkiewicz K, Osborne L, Papavassiliou V V, Pawlik B, Pipkin FM, Ramberg EJ, Röser A, Ryan J, Salgado CW, Salvarani A, Schellman H, Schmitz N, and Schüler KP

Published
1992
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15. Saturation of shadowing at very low Bjorken x.

Author

Adams MR, Aïd S, Anthony PL, Baker MD, Bartlett J, Bhatti AA, Braun HM, Busza W, Carroll TJ, Conrad JM, Coutrakon G, Davisson R, Derado I I, Dhawan SK, Dougherty W, Dreyer T, Dziunikowska K, Eckardt V V, Ecker U, Erdmann M, Eskreys A, Figiel J, Gebauer HJ, Geesaman DF, Gilman R, Green MC, Haas J, Halliwell C, Hanlon J, Hantke D, Hughes VW, Jackson HE, Jaffe DE, Jancso G, Jansen DM, Kaufman S, Kennedy RD, Kirk T, Kobrak HG, Krzywdzinski S, Kunori S, Lord JJ, Lubatti HJ, McLeod D, Magill S, Malecki P, Manz A, Melanson H, Michael DG, Mohr W, Montgomery HE, Morfin JG, Nickerson RB, O'Day S, Olkiewicz K, Osborne L, Papavassiliou V V, Pawlik B, Pipkin FM, Ramberg EJ, Röser A, Ryan JJ, Salvarani A, and Schellman H

Published
1992
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16. Scaled-factorial-moment analysis of 200A-GeV sulfur+gold interactions.

Author

Adamovich MI, Aggarwal MM, Alexandrov YA, Ameeva ZV, Andreeva NP, Anzon ZV, Arora R, Badyal SK, Bhalla KB, Bhasin A, Bhatia VS, Bubnov VI VI, Burnett TH, Cai X, Chasnikov IY, Chernova LP, Chernyavski MM, Dressel B, Eligbaeva GZ, Eremenko LE, Friedlander EM, Gadzhieva SI, Gaitinov AS, Ganssauge ER, Garpman S, Gerassimov SG, Gill A, Grote JG, Gulamov KG, Gulyamov UG, Gupta VK, Hackel S, Heckman HH, Haung H, Judek B, Kachroo S, Kadyrov FG, Kalyachkina GS, Kanygina EK, Kaul GL, Kaur M, Kharlamov SP, Koss T, Kumar V V, Lal P, Larionova VG, Lindstrom PJ, Liu LS, Lokanathan S, Lord JJ, Lukicheva NS, Luo SB, Maslennikova NV, Mangotra LK, Mittra IS, Mookerjee S, Mueller C, Nasyrov SH, Navotny VS, Orlova GI, Otterlund I I, Peresadko NG, Persson S, and Petrov NV

Published
1990
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19. Nucleus-nucleus interactions between 20 and 65 GeV per nucleon.

Author

Burnett TH, Dake S, Derrickson JH, Fountain WF, Fuki M, Gregory JC, Hayashi T, Holynski R, Iwai J, Jones WV, Jurak A, Lord JJ, Meegan CA, Miyamura O, Oda H, Ogata T, Parnell TA, Roberts FE, Saito T, Strausz S, Tabuki T, Takahashi Y, Tominaga T, Watts JW, Wilczynska B, Wilkes RJ, Wolter W, and Wosiek B

Published
1987
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