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Papers authored by Pennacchio L

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A restricted spectrum of NRAS mutations causes Noonan syndrome.

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Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L,

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Nature genetics 42(1):27-9, 2010 Jan - Who cited this? | PubMed ID: 19966803 | Fulltext

Tracking the roots of cellulase hyperproduction by the fungus Trichoderma reesei using massively parallel DNA sequencing.

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Le Crom S, Schackwitz W, Pennacchio L, Magnuson JK, Culley DE, Collett JR, Martin J, Druzhinina IS, Mathis H, Monot F, Seiboth B, Cherry B, Rey M, Berka R, Kubicek CP, Baker SE,

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Proceedings of the National Academy of Sciences of the United States of America 106(38):16151-6, 2009 Sep 22 - Who cited this? | PubMed ID: 19805272 | Fulltext

Genomic views of distant-acting enhancers.

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Visel A, Rubin EM, and Pennacchio LA

Nature 461(7261):199-205, 2009 Sep 10 - Who cited this? | PubMed ID: 19741700 | Fulltext

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

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Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E,

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Nature genetics 41(9):1022-6, 2009 Sep - Who cited this? | PubMed ID: 19684605 | Fulltext

Directed evolution of ionizing radiation resistance in Escherichia coli.

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Harris DR, Pollock SV, Wood EA, Goiffon RJ, Klingele AJ, Cabot EL, Schackwitz W, Martin J, Eggington J, Durfee TJ, Middle CM, Norton JE, Popelars MC, Li H, Klugman SA, Hamilton LL,

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Journal of bacteriology 191(16):5240-52, 2009 Aug - Who cited this? | PubMed ID: 19502398 | Fulltext

Contrasting patterns of sequence evolution at the functionally redundant bric à brac paralogs in Drosophila melanogaster.

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Bickel RD, Schackwitz WS, Pennacchio LA, Nuzhdin SV, and Kopp A

Journal of molecular evolution 69(2):194-202, 2009 Aug - Who cited this? | PubMed ID: 19639236 | Fulltext

Functional autonomy of distant-acting human enhancers.

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Visel A, Akiyama JA, Shoukry M, Afzal V, Rubin EM, and Pennacchio LA

Genomics 93(6):509-13, 2009 Jun - Who cited this? | PubMed ID: 19268701 | Fulltext

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.

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Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, and Bates MD

Clinical genetics 75(5):429-39, 2009 May - Who cited this? | PubMed ID: 19459883 | Fulltext

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

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Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, and Vaisse C

Human molecular genetics 18(6):1140-7, 2009 Mar 15 - Who cited this? | PubMed ID: 19091795 | Fulltext

Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy.

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Zhang Z, Alpert D, Francis R, Chatterjee B, Yu Q, Tansey T, Sabol SL, Cui C, Bai Y, Koriabine M, Yoshinaga Y, Cheng JF, Chen F, Martin J, Schackwitz W, Gunn TM,

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Proceedings of the National Academy of Sciences of the United States of America 106(9):3219-24, 2009 Mar 3 - Who cited this? | PubMed ID: 19218456 | Fulltext

ChIP-seq accurately predicts tissue-specific activity of enhancers.

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Visel A, Blow MJ, Li Z, Zhang T, Akiyama JA, Holt A, Plajzer-Frick I, Shoukry M, Wright C, Chen F, Afzal V, Ren B, Rubin EM, and Pennacchio LA

Nature 457(7231):854-8, 2009 Feb 12 - Who cited this? | PubMed ID: 19212405 | Fulltext

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

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Romeo S, Yin W, Kozlitina J, Pennacchio LA, Boerwinkle E, Hobbs HH, and Cohen JC

The Journal of clinical investigation 119(1):70-9, 2009 Jan - Who cited this? | PubMed ID: 19075393 | Fulltext

The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts.

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Bressler J, Fornage M, Hanis CL, Kao WH, Lewis CE, McPherson R, Dent R, Mosley TH, Pennacchio LA, and Boerwinkle E

BMC medical genetics 10:56, 2009 - Who cited this? | PubMed ID: 19523229 | Fulltext

Dicer, Drosha, and outcomes in patients with ovarian cancer.

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Merritt WM, Lin YG, Han LY, Kamat AA, Spannuth WA, Schmandt R, Urbauer D, Pennacchio LA, Cheng JF, Nick AM, Deavers MT, Mourad-Zeidan A, Wang H, Mueller P, Lenburg ME, Gray JW,

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The New England journal of medicine 359(25):2641-50, 2008 Dec 18 - Who cited this? | PubMed ID: 19092150 | Fulltext

Combinatorial regulation of endothelial gene expression by ets and forkhead transcription factors.

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De Val S, Chi NC, Meadows SM, Minovitsky S, Anderson JP, Harris IS, Ehlers ML, Agarwal P, Visel A, Xu SM, Pennacchio LA, Dubchak I, Krieg PA, Stainier DY, and Black BL

Cell 135(6):1053-64, 2008 Dec 12 - Who cited this? | PubMed ID: 19070576 | Fulltext

Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers.

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Leary RJ, Lin JC, Cummins J, Boca S, Wood LD, Parsons DW, Jones S, Sjöblom T, Park BH, Parsons R, Willis J, Dawson D, Willson JK, Nikolskaya T, Nikolsky Y, Kopelovich L,

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Proceedings of the National Academy of Sciences of the United States of America, 2008 Oct 13 - Who cited this? | PubMed ID: 18852474 | Fulltext

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

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Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED,

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Nature genetics, 2008 Oct 5 - Who cited this? | PubMed ID: 18836445 | Fulltext

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

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Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA, Boerwinkle E, Cohen JC, and Hobbs HH

Nature genetics, 2008 Sep 25 - Who cited this? | PubMed ID: 18820647 | Fulltext

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

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Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, and Geschwind DH

Human molecular genetics, 2008 Sep 9 - Who cited this? | PubMed ID: 18782849 | Fulltext

Human-specific gain of function in a developmental enhancer.

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Prabhakar S, Visel A, Akiyama JA, Shoukry M, Lewis KD, Holt A, Plajzer-Frick I, Morrison H, Fitzpatrick DR, Afzal V, Pennacchio LA, Rubin EM, and Noonan JP

Science (New York, N.Y.) 321(5894):1346, 2008 Sep 5 - Who cited this? | PubMed ID: 18772437 | Fulltext

The amphioxus genome and the evolution of the chordate karyotype.

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Putnam NH, Butts T, Ferrier DE, Furlong RF, Hellsten U, Kawashima T, Robinson-Rechavi M, Shoguchi E, Terry A, Yu JK, Benito-Gutiérrez EL, Dubchak I, Garcia-Fernàndez J, Gibson-Brown JJ, Grigoriev IV, Horton AC,

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Nature 453(7198):1064, 2008 Jun 19 - Who cited this? | PubMed ID: 18563158 | Fulltext

The amphioxus genome illuminates vertebrate origins and cephalochordate biology.

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Holland LZ, Albalat R, Azumi K, Benito-Gutiérrez E, Blow MJ, Bronner-Fraser M, Brunet F, Butts T, Candiani S, Dishaw LJ, Ferrier DE, Garcia-Fernàndez J, Gibson-Brown JJ, Gissi C, Godzik A, Hallböök F,

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Genome research, 2008 Jun 18 - Who cited this? | PubMed ID: 18562680 | Fulltext

Glucose Regulates the Expression of the Apolipoprotein A5 Gene.

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Nowak M, Helleboid-Chapman A, Jakel H, Moitrot E, Rommens C, Pennacchio LA, Fruchart-Najib J, and Fruchart JC

Journal of molecular biology, 2008 Apr 30 - Who cited this? | PubMed ID: 18572192 | Fulltext

Ultraconservation identifies a small subset of extremely constrained developmental enhancers.

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Visel A, Prabhakar S, Akiyama JA, Shoukry M, Lewis KD, Holt A, Plajzer-Frick I, Afzal V, Rubin EM, and Pennacchio LA

Nature genetics 40(2):158, 2008 Feb - Who cited this? | PubMed ID: 18176564 | Fulltext

In vivo characterization of human APOA5 haplotypes.

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Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, and Pennacchio LA

Genomics 90(6):674-9, 2007 Dec - Who cited this? | PubMed ID: 17936576 | Fulltext

Deletion of ultraconserved elements yields viable mice.

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Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, and Rubin EM

PLoS biology 5(9), 2007 Sep - Who cited this? | PubMed ID: 17803355 | Fulltext

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

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Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, and Slavotinek AM

European journal of human genetics : EJHG 15(9):950-8, 2007 Sep - Who cited this? | PubMed ID: 17568391 | Fulltext

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

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Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P,

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Nature genetics 39(8):1007, 2007 Aug - Who cited this? | PubMed ID: 17603483 | Fulltext

A common allele on chromosome 9 associated with coronary heart disease.

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McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, Hinds DA, Pennacchio LA, Tybjaerg-Hansen A, Folsom AR, Boerwinkle E, Hobbs HH, and Cohen JC

Science (New York, N.Y.) 316(5830):1488-91, 2007 Jun 8 - Who cited this? | PubMed ID: 17478681 | Fulltext

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.

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Kryukov GV, Pennacchio LA, and Sunyaev SR

American journal of human genetics 80(4):727-39, 2007 Apr - Who cited this? | PubMed ID: 17357078 | Fulltext

Medical sequencing at the extremes of human body mass.

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Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R,

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American journal of human genetics 80(4):779-91, 2007 Apr - Who cited this? | PubMed ID: 17357083 | Fulltext

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

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Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH, and Cohen JC

Nature genetics 39(4):513-6, 2007 Apr - Who cited this? | PubMed ID: 17322881 | Fulltext

Predicting tissue-specific enhancers in the human genome.

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Pennacchio LA, Loots GG, Nobrega MA, and Ovcharenko I

Genome research 17(2):201-11, 2007 Feb - Who cited this? | PubMed ID: 17210927 | Fulltext

Enhancer identification through comparative genomics.

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Visel A, Bristow J, and Pennacchio LA

Seminars in cell & developmental biology 18(1):140-52, 2007 Feb - Who cited this? | PubMed ID: 17276707 | Fulltext

Gain-of-function R225W mutation in human AMPKgamma3 causing increased glycogen and decreased triglyceride in skeletal muscle.

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Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, and Harper ME

PLoS ONE 2(9), 2007 - Who cited this? | PubMed ID: 17878938 | Fulltext

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

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Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C,

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Nature genetics 39(1):75, 2007 Jan - Who cited this? | PubMed ID: 17143282 | Fulltext

VISTA Enhancer Browser--a database of tissue-specific human enhancers.

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Visel A, Minovitsky S, Dubchak I, and Pennacchio LA

Nucleic acids research 35(Database issue):D88-92, 2007 Jan - Who cited this? | PubMed ID: 17130149 | Fulltext

Comparative genomics: a tool to functionally annotate human DNA.

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Cheng JF, Priest JR, and Pennacchio LA

Methods in molecular biology (Clifton, N.J.) 366:229-51, 2007 - Who cited this? | PubMed ID: 17568128 | Fulltext

In vivo enhancer analysis of human conserved non-coding sequences.

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Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, Minovitsky S, Dubchak I, Holt A, Lewis KD, Plajzer-Frick I, Akiyama J, De Val S, Afzal V, Black BL, Couronne O,

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Nature 444(7118):499, 2006 Nov 23 - Who cited this? | PubMed ID: 17086198 | Fulltext

Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers.

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Wood LD, Calhoun ES, Silliman N, Ptak J, Szabo S, Powell SM, Riggins GJ, Wang TL, Yan H, Gazdar A, Kern SE, Pennacchio L, Kinzler KW, Vogelstein B, and Velculescu VE

Human mutation 27(10):1060-1, 2006 Oct - Who cited this? | PubMed ID: 16941478 | Fulltext

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

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Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, and Pennacchio LA

European journal of human genetics : EJHG 14(9):999, 2006 Sep - Who cited this? | PubMed ID: 16736036 | Fulltext

Close sequence comparisons are sufficient to identify human cis-regulatory elements.

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Prabhakar S, Poulin F, Shoukry M, Afzal V, Rubin EM, Couronne O, and Pennacchio LA

Genome research 16(7):855, 2006 Jul - Who cited this? | PubMed ID: 16769978 | Fulltext

Human cathepsin L rescues the neurodegeneration and lethality in cathepsin B/L double-deficient mice.

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Sevenich L, Pennacchio LA, Peters C, and Reinheckel T

Biological chemistry 387(7):885-91, 2006 Jul - Who cited this? | PubMed ID: 16913838 | Fulltext

A PYY Q62P variant linked to human obesity.

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Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, and McPherson R

Human molecular genetics 15(3):387, 2006 Feb 1 - Who cited this? | PubMed ID: 16368708 | Fulltext

Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants.

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Grosskopf I, Baroukh N, Lee SJ, Kamari Y, Harats D, Rubin EM, Pennacchio LA, and Cooper AD

Arteriosclerosis, thrombosis, and vascular biology 25(12):2573-9, 2005 Dec - Who cited this? | PubMed ID: 16166565 | Fulltext

Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.

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Marçais C, Verges B, Charrière S, Pruneta V, Merlin M, Billon S, Perrot L, Drai J, Sassolas A, Pennacchio LA, Fruchart-Najib J, Fruchart JC, Durlach V, and Moulin P

The Journal of clinical investigation 115(10):2862-9, 2005 Oct - Who cited this? | PubMed ID: 16200213 | Fulltext

Lack of support for the association between GAD2 polymorphisms and severe human obesity.

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Swarbrick MM, Waldenmaier B, Pennacchio LA, Lind DL, Cavazos MM, Geller F, Merriman R, Ustaszewska A, Malloy M, Scherag A, Hsueh WC, Rief W, Mauvais-Jarvis F, Pullinger CR, Kane JP, Dent R,

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PLoS biology 3(9), 2005 Sep - Who cited this? | PubMed ID: 16122350 | Fulltext

Apolipoprotein AV accelerates plasma hydrolysis of triglyceride-rich lipoproteins by interaction with proteoglycan-bound lipoprotein lipase.

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Merkel M, Loeffler B, Kluger M, Fabig N, Geppert G, Pennacchio LA, Laatsch A, and Heeren J

The Journal of biological chemistry 280(22):21553, 2005 Jun 3 - Who cited this? | PubMed ID: 15774484 | Fulltext

In vivo characterization of a vertebrate ultraconserved enhancer.

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Poulin F, Nobrega MA, Plajzer-Frick I, Holt A, Afzal V, Rubin EM, and Pennacchio LA

Genomics 85(6):774, 2005 Jun - Who cited this? | PubMed ID: 15885503 | Fulltext

Transcriptional regulation of apolipoprotein A5 gene expression by the nuclear receptor RORalpha.

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Genoux A, Dehondt H, Helleboid-Chapman A, Duhem C, Hum DW, Martin G, Pennacchio LA, Staels B, Fruchart-Najib J, and Fruchart JC

Arteriosclerosis, thrombosis, and vascular biology 25(6):1186-92, 2005 Jun - Who cited this? | PubMed ID: 15790933 | Fulltext

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