Faculty

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James A Knowles, MD, PhD
Professor of Psychiatry
Della Martin Chair in Psychiatry and Neuroscience
Associate Chair For Research
Psychiatry and The Behavioral Sciences
ZNI 401 1501 San Pablo Street Health Sciences Campus Los Angeles
+1 323 442 2542

Overview

The overall interest of my laboratory is the genetic basis of behavior, cognition and affect. Most of our studies search for the genetic factors that have an etiological role in psychiatric illness. To do so, we participate in both large genetic studies of the “complex” (non-Mendelian) genetic disorders and in studying several simple or Mendelian disorders.

The study of Mendelian disorders has been a useful “testbed” to hone the laboratory techniques for finding the genes for the psychiatric disorders, which are “complex” genetic disorders. My laboratory has discovered the genes for two Mendelian disorders. The first was RP14, a gene for autosomal recessive Retinitis pigmentosa (RP) on chromosome 6p. The second is PPH1, the gene for familial Primary Pulmonary Hypertension (now called PAH-Pulmonary Arterial Hypertension), an autosomal dominant disorder. My collaborators and I also found that the gene for PAH, BMPR2 (bone morphogenetic protein receptor II), is also mutated in: some individuals with congenital heart disease; approximately 5-10% of individuals with sporadic PAH; and some individuals who developed PAH after taking the diet drug fenfluramine. We have also shown that BMPR2 interacts with the c-Src signaling pathway and have developed an assay for high-throughput drug discovery to look for new treatments for PAH. Both the RP and the PAH projects have enabled us to build a genetics laboratory with state-of-art equipment, and personnel trained in the techniques of genomic analysis, mutation detection, and bioinformatics to enable us to find the genetic loci for the psychiatric disorders.

Finding genes for the psychiatric disorders is by necessity a collaborative effort. These are large-scale studies that require multiple sites to collect the sample sizes necessary to have adequate power. These studies also require teams of clinicians, geneticists and statisticians, working together, to make progress. I am the geneticist/molecular biologist on several such teams. My work with these investigators has focused on the anxiety disorders, depression and the addictive disorders. I published the first genome-wide scan for linkage to panic disorder, which ruled out the likely existence of a single major gene for the disorder and demonstrated the need for larger sample sizes in psychiatric genetics. More recently, our collaborative group has found two loci for panic disorder, one on chromosome 15q and a second, sex-specific locus on chromosome 2q. Both are significant at when corrected for genome-wide testing. My laboratory has also worked on another anxiety disorder, obsessive-compulsive disorder (OCD). Our genome-wide scan for linkage to OCD found suggestive linkage to chromosomes 1q, 3q, 6q, 7p, and 15q. Genome-wide significant linkage to chromosome 15q has also been observed for major depression by another collaborative group we are a member of. We also work on two addictive disorder genetics projects, opiate addiction and nicotine dependence. We have observed genome-wide suggestive linkage to chromosome 14q for opiate addiction and are in the process of analyzing the data from a genome-wide scan for linkage of nicotine dependence. Lastly, since coming to USC, we have joined with Drs. Carlos and Michele Pato to discover genes for both schizophrenia and bipolar disorder using the unique sample they have collected in the Azores.

Publications

Ding SL, Royall JJ, Sunkin SM, Ng L, Facer BA, Lesnar P, Guillozet-Bongaarts A, McMurray B, Szafer A, Dolbeare TA, Stevens A, Tirrell L, Benner T, Caldejon S, Dalley RA, Dee N, Lau C, Nyhus J, Reding M, Riley ZL, Sandman D, Shen E, van der Kouwe A, Varjabedian A, Write M, Zollei L, Dang C, Knowles JA, Koch C, Phillips JW, Sestan N, Wohnoutka P, Zielke HR, Hohmann JG, Jones AR, Bernard A, Hawrylycz MJ, Hof PR, Fischl B, Lein ES. Comprehensive cellular-resolution atlas of the adult human brain. J Comp Neurol. 2016 Nov 1; 524(16):3127-481. View in: PubMed

Kim YJ, Ibrahim LA, Wang SZ, Yuan W, Evgrafov OV, Knowles JA, Wang K, Tao HW, Zhang LI. EphA7 regulates spiral ganglion innervation of cochlear hair cells. Dev Neurobiol. 2016 Apr; 76(4):452-69. View in: PubMed

Riddle MA, Maher BS, Wang Y, Grados M, Bienvenu OJ, Goes FS, Cullen B, Murphy DL, Rauch SL, Greenberg BD, Knowles JA, McCracken JT, Pinto A, Piacentini J, Pauls DL, Rasmussen SA, Shugart YY, Nestadt G, Samuels J. OBSESSIVE-COMPULSIVE PERSONALITY DISORDER: EVIDENCE FOR TWO DIMENSIONS. Depress Anxiety. 2016 Feb; 33(2):128-35. View in: PubMed

Shi L, Guo Y, Dong C, Huddleston J, Yang H, Han X, Fu A, Li Q, Li N, Gong S, Lintner KE, Ding Q, Wang Z, Hu J, Wang D, Wang F, Wang L, Lyon GJ, Guan Y, Shen Y, Evgrafov OV, Knowles JA, Thibaud-Nissen F, Schneider V, Yu CY, Zhou L, Eichler EE, So KF, Wang K. Long-read sequencing and de novo assembly of a Chinese genome. Nat Commun. 2016; 7:12065. View in: PubMed

Ho EV, Thompson SL, Katzka WR, Sharifi MF, Knowles JA, Dulawa SC. Clinically effective OCD treatment prevents 5-HT1B receptor-induced repetitive behavior and striatal activation. Psychopharmacology (Berl). 2016 Jan; 233(1):57-70. View in: PubMed

Akbarian S, Liu C, Knowles JA, Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Nairn AC, Abyzov A, Pochareddy S, Prabhakar S, Weissman S, Sullivan PF, State MW, Weng Z, Peters MA, White KP, Gerstein MB, Amiri A, Armoskus C, Ashley-Koch AE, Bae T, Beckel-Mitchener A, Berman BP, Coetzee GA, Coppola G, Francoeur N, Fromer M, Gao R, Grennan K, Herstein J, Kavanagh DH, Ivanov NA, Jiang Y, Kitchen RR, Kozlenkov A, Kundakovic M, Li M, Li Z, Liu S, Mangravite LM, Mattei E, Markenscoff-Papadimitriou E, Navarro FC, North N, Omberg L, Panchision D, Parikshak N, Poschmann J, Price AJ, Purcaro M, Reddy TE, Roussos P, Schreiner S, Scuderi S, Sebra R, Shibata M, Shieh AW, Skarica M, Sun W, Swarup V, Thomas A, Tsuji J, van Bakel H, Wang D, Wang Y, Wang K, Werling DM, Willsey AJ, Witt H, Won H, Wong CC, Wray GA, Wu EY, Xu X, Yao L, Senthil G, Lehner T, Sklar P, Sestan N. The PsychENCODE project. Nat Neurosci. 2015 Nov 25; 18(12):1707-12. View in: PubMed

Hecht PM, Ballesteros-Yanez I, Grepo N, Knowles JA, Campbell DB. Noncoding RNA in the transcriptional landscape of human neural progenitor cell differentiation. Front Neurosci. 2015; 9:392. View in: PubMed

Sook Lee N, Evgrafov OV, Souaiaia T, Bonyad A, Herstein J, Yeun Lee J, Kim J, Ning Y, Sixto M, Weitz AC, Lenz HJ, Wang K, Knowles JA, Press MF, Salvaterra PM, Kirk Shung K, Chow RH. Non-coding RNAs derived from an alternatively spliced REST transcript (REST-003) regulate breast cancer invasiveness. Sci Rep. 2015; 5:11207. View in: PubMed

Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. Am J Psychiatry. 2015 Jan 1; 172(1):82-93. View in: PubMed

Hodges LM, Fyer AJ, Weissman MM, Logue MW, Haghighi F, Evgrafov O, Rotondo A, Knowles JA, Hamilton SP. Evidence for Linkage and Association of GABRB3 and GABRA5 to Panic Disorder. Neuropsychopharmacology. 2014 Sep; 39(10):2423-31. View in: PubMed

McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. J Am Acad Child Adolesc Psychiatry. 2014 Aug; 53(8):910-9. View in: PubMed

Samuels J, Shugart YY, Wang Y, Grados MA, Bienvenu OJ, Pinto A, Rauch SL, Greenberg BD, Knowles JA, Fyer AJ, Piacentini J, Pauls DL, Cullen B, Rasmussen SA, Stewart SE, Geller DA, Maher BS, Goes FS, Murphy DL, McCracken JT, Riddle MA, Nestadt G. Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study. Am J Med Genet B Neuropsychiatr Genet. 2014 Jun; 165(4):326-36. View in: PubMed

Miller JA, Ding SL, Sunkin SM, Smith KA, Ng L, Szafer A, Ebbert A, Riley ZL, Royall JJ, Aiona K, Arnold JM, Bennet C, Bertagnolli D, Brouner K, Butler S, Caldejon S, Carey A, Cuhaciyan C, Dalley RA, Dee N, Dolbeare TA, Facer BA, Feng D, Fliss TP, Gee G, Goldy J, Gourley L, Gregor BW, Gu G, Howard RE, Jochim JM, Kuan CL, Lau C, Lee CK, Lee F, Lemon TA, Lesnar P, McMurray B, Mastan N, Mosqueda N, Naluai-Cecchini T, Ngo NK, Nyhus J, Oldre A, Olson E, Parente J, Parker PD, Parry SE, Stevens A, Pletikos M, Reding M, Roll K, Sandman D, Sarreal M, Shapouri S, Shapovalova NV, Shen EH, Sjoquist N, Slaughterbeck CR, Smith M, Sodt AJ, Williams D, Zöllei L, Fischl B, Gerstein MB, Geschwind DH, Glass IA, Hawrylycz MJ, Hevner RF, Huang H, Jones AR, Knowles JA, Levitt P, Phillips JW, Sestan N, Wohnoutka P, Dang C, Bernard A, Hohmann JG, Lein ES. Transcriptional landscape of the prenatal human brain. Nature. 2014 Apr 10; 508(7495):199-206. View in: PubMed

Hartz SM, Pato CN, Medeiros H, Cavazos-Rehg P, Sobell JL, Knowles JA, Bierut LJ, Pato MT. Comorbidity of severe psychotic disorders with measures of substance use. JAMA Psychiatry. 2014 Mar 1; 71(3):248-54. View in: PubMed

Chen EA, Souaiaia T, Herstein JS, Evgrafov OV, Spitsyna VN, Rebolini DF, Knowles JA. Effect of RNA integrity on uniquely mapped reads in RNA-Seq. BMC Res Notes. 2014; 7:753. View in: PubMed

Staab TA, Egrafov O, Knowles JA, Sieburth D. Regulation of Synaptic nlg-1/Neuroligin Abundance by the skn-1/Nrf Stress Response Pathway Protects against Oxidative Stress. PLoS Genet. 2014 Jan; 10(1):e1004100. View in: PubMed

Bigdeli TB, Maher BS, Zhao Z, Sun J, Medeiros H, Akula N, McMahon FJ, Carvalho C, Ferreira SR, Azevedo MH, Knowles JA, Pato MT, Pato CN, Fanous AH. Association study of 83 candidate genes for bipolar disorder in chromosome 6q selected using an evidence-based prioritization algorithm. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162(8):898-906. View in: PubMed

Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra-Vanderweele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. Partitioning the heritability of tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet. 2013 Oct; 9(10):e1003864. View in: PubMed

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94. View in: PubMed

Guffanti G, Torri F, Rasmussen J, Clark AP, Lakatos A, Turner JA, Fallon JH, Saykin AJ, Weiner M. Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample. Genomics. 2013 Aug; 102(2):112-22. View in: PubMed

Pato MT, Sobell JL, Medeiros H, Abbott C, Sklar BM, Buckley PF, Bromet EJ, Escamilla MA, Fanous AH, Lehrer DS, Macciardi F, Malaspina D, McCarroll SA, Marder SR, Moran J, Morley CP, Nicolini H, Perkins DO, Purcell SM, Rapaport MH, Sklar P, Smoller JW, Knowles JA. The genomic psychiatry cohort: partners in discovery. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun; 162B(4):306-12. View in: PubMed

Wang H, Girskis K, Janssen T, Chan JP, Dasgupta K, Knowles JA, Schoofs L, Sieburth D. Neuropeptide secreted from a pacemaker activates neurons to control a rhythmic behavior. Curr Biol. 2013 May 6; 23(9):746-54. View in: PubMed

A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry. 2013 Apr; 18(4):497-511. View in: PubMed

Staab TA, Griffen TC, Corcoran C, Evgrafov O, Knowles JA, Sieburth D. The conserved SKN-1/Nrf2 stress response pathway regulates synaptic function in Caenorhabditis elegans. PLoS Genet. 2013 Mar; 9(3):e1003354. View in: PubMed

Wrobel BB, Mazza JM, Evgrafov OV, Knowles JA. Assessing the efficacy of endoscopic office olfactory biopsy sites to produce neural progenitor cell cultures for the study of neuropsychiatric disorders. Int Forum Allergy Rhinol. 2013 Feb; 3(2):133-8. View in: PubMed

Webb BT, Guo AY, Maher BS, Zhao Z, van den Oord EJ, Kendler KS, Riley BP, Gillespie NA, Prescott CA, Middeldorp CM, Willemsen G, de Geus EJ, Hottenga JJ, Boomsma DI, Slagboom EP, Wray NR, Montgomery GW, Martin NG, Wright MJ, Heath AC, Madden PA, Gelernter J, Knowles JA, Hamilton SP, Weissman MM, Fyer AJ, Huezo-Diaz P, McGuffin P, Farmer A, Craig IW, Lewis C, Sham P, Crowe RR, Flint J, Hettema JM. Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes. Eur J Hum Genet. 2012 Oct; 20(10):1078-84. View in: PubMed

Torri F, Dinov ID, Zamanyan A, Hobel S, Genco A, Petrosyan P, Clark AP, Liu Z, Eggert P, Pierce J, Knowles JA, Ames J, Kesselman C, Toga AW, Potkin SG, Vawter MP, Macciardi F. Next generation sequence analysis and computational genomics using graphical pipeline workflows. Genes (Basel). 2012 Aug 30; 3(3):545-75. View in: PubMed

Fanous AH, Middleton FA, Gentile K, Amdur RL, Maher BS, Zhao Z, Sun J, Medeiros H, Carvalho C, Ferreira SR, Macedo A, Knowles JA, Azevedo MH, Pato MT, Pato CN. Genetic overlap of schizophrenia and bipolar disorder in a high-density linkage survey in the Portuguese Island population. Am J Med Genet B Neuropsychiatr Genet. 2012 Jun; 159B(4):383-91. View in: PubMed

Fyer AJ, Costa R, Haghighi F, Logue MW, Knowles JA, Weissman MM, Hodge SE, Hamilton SP. Linkage analysis of alternative anxiety phenotypes in multiply affected panic disorder families. Psychiatr Genet. 2012 Jun; 22(3):123-9. View in: PubMed

Logue MW, Bauver SR, Knowles JA, Gameroff MJ, Weissman MM, Crowe RR, Fyer AJ, Hamilton SP. Multivariate analysis of anxiety disorders yields further evidence of linkage to chromosomes 4q21 and 7p in panic disorder families. Am J Med Genet B Neuropsychiatr Genet. 2012 Apr; 159B(3):274-80. View in: PubMed

Qiu S, Luo S, Evgrafov O, Li R, Schroth GP, Levitt P, Knowles JA, Wang K. Single-neuron RNA-Seq: technical feasibility and reproducibility. Front Genet. 2012; 3:124. View in: PubMed

Evgrafov OV, Wrobel BB, Kang X, Simpson G, Malaspina D, Knowles JA. Olfactory neuroepithelium-derived neural progenitor cells as a model system for investigating the molecular mechanisms of neuropsychiatric disorders. Psychiatr Genet. 2011 Oct; 21(5):217-28. View in: PubMed

Wang Y, Mehta G, Mayani R, Lu J, Souaiaia T, Chen Y, Clark A, Yoon HJ, Wan L, Evgrafov OV, Knowles JA, Deelman E, Chen T. RseqFlow: workflows for RNA-Seq data analysis. Bioinformatics. 2011 Sep 15; 27(18):2598-600. View in: PubMed

Samuels J, Wang Y, Riddle MA, Greenberg BD, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Grados MA, Knowles JA, Piacentini J, Cullen B, Bienvenu OJ, Rasmussen SA, Geller D, Pauls DL, Liang KY, Shugart YY, Nestadt G. Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun; 156B(4):472-7. View in: PubMed

Mroczkowski MM, Goes FS, Riddle MA, Grados MA, Bienvenu OJ, Greenberg BD, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Knowles JA, Piacentini J, Cullen B, Rasmussen SA, Geller DA, Pauls DL, Liang KY, Nestadt G, Samuels JF. Separation anxiety disorder in OCD. Depress Anxiety. 2011 Mar; 28(3):256-62. View in: PubMed

Dinov ID, Torri F, Macciardi F, Petrosyan P, Liu Z, Zamanyan A, Eggert P, Pierce J, Genco A, Knowles JA, Clark AP, Van Horn JD, Ames J, Kesselman C, Toga AW. Applications of the pipeline environment for visual informatics and genomics computations. BMC Bioinformatics. 2011; 12:304. View in: PubMed

Nguyen H, Knowles J. Demand for voluntary health insurance in developing countries: the case of Vietnam's school-age children and adolescent student health insurance program. Soc Sci Med. 2010 Dec; 71(12):2074-82. View in: PubMed

Dao DT, Mahon PB, Cai X, Kovacsics CE, Blackwell RA, Arad M, Shi J, Zandi PP, O'Donnell P. Mood disorder susceptibility gene CACNA1C modifies mood-related behaviors in mice and interacts with sex to influence behavior in mice and diagnosis in humans. Biol Psychiatry. 2010 Nov 1; 68(9):801-10. View in: PubMed

Roberts KE, Kawut SM, Krowka MJ, Brown RS, Trotter JF, Shah V, Peter I, Tighiouart H, Mitra N, Handorf E, Knowles JA, Zacks S, Fallon MB. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. Gastroenterology. 2010 Jul; 139(1):130-9. e24. View in: PubMed

Brisbin A, Weissman MM, Fyer AJ, Hamilton SP, Knowles JA, Bustamante CD, Mezey JG. Bayesian linkage analysis of categorical traits for arbitrary pedigree designs. PLoS One. 2010; 5(8):e12307. View in: PubMed

Logue MW, Durner M, Heiman GA, Hodge SE, Hamilton SP, Knowles JA, Fyer AJ, Weissman MM. A linkage search for joint panic disorder/bipolar genes. Am J Med Genet B Neuropsychiatr Genet. 2009 Dec 5; 150B(8):1139-46. View in: PubMed

Mahon PB, Payne JL, MacKinnon DF, Mondimore FM, Goes FS, Schweizer B, Jancic D. Genome-wide linkage and follow-up association study of postpartum mood symptoms. Am J Psychiatry. 2009 Nov; 166(11):1229-37. View in: PubMed

Roberts KE, Fallon MB, Krowka MJ, Benza RL, Knowles JA, Badesch DB, Brown RS, Taichman DB, Trotter J, Zacks S, Horn EM, Kawut SM. Serotonin transporter polymorphisms in patients with portopulmonary hypertension. Chest. 2009 Jun; 135(6):1470-5. View in: PubMed

Knowles JA. National solid waste management plan for Iraq. Waste Manag Res. 2009 Jun; 27(4):322-7. View in: PubMed

Roberts KE, Fallon MB, Krowka MJ, Brown RS, Trotter JF, Peter I, Tighiouart H, Knowles JA, Rabinowitz D, Benza RL, Badesch DB, Taichman DB, Horn EM, Zacks S, Kaplowitz N, Kawut SM. Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease. Am J Respir Crit Care Med. 2009 May 1; 179(9):835-42. View in: PubMed

Hodges LM, Weissman MM, Haghighi F, Costa R, Bravo O, Evgrafov O, Knowles JA, Fyer AJ, Hamilton SP. Association and linkage analysis of candidate genes GRP, GRPR, CRHR1, and TACR1 in panic disorder. Am J Med Genet B Neuropsychiatr Genet. 2009 Jan 5; 150B(1):65-73. View in: PubMed

Dursun A, Ozgul RK, Soydas A, Tugrul T, Gurgey A, Celiker A, Barst RJ, Knowles JA, Mahesh M, Morse JH. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. Clin Dysmorphol. 2009 Jan; 18(1):19-23. View in: PubMed

Liang KY, Wang Y, Shugart YY, Grados M, Fyer AJ, Rauch S, Murphy D, McCracken J, Rasmussen S, Cullen B, Hoehn-Saric R, Greenberg B, Pinto A, Knowles J, Piacentini J, Pauls D, Bienvenu O, Riddle M, Samuels J, Nestadt G. Evidence for potential relationship between SLC1A1 and a putative genetic linkage region on chromosome 14q to obsessive-compulsive disorder with compulsive hoarding. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5; 147B(6):1000-2. View in: PubMed

Samuels JF, Bienvenu OJ, Pinto A, Murphy DL, Piacentini J, Rauch SL, Fyer AJ, Grados MA, Greenberg BD, Knowles JA, McCracken JT, Cullen B, Riddle MA, Rasmussen SA, Pauls DL, Liang KY, Hoehn-Saric R, Pulver AE, Nestadt G. Sex-specific clinical correlates of hoarding in obsessive-compulsive disorder. Behav Res Ther. 2008 Sep; 46(9):1040-6. View in: PubMed

Pinto A, Greenberg BD, Grados MA, Bienvenu OJ, Samuels JF, Murphy DL, Hasler G, Stout RL, Rauch SL, Shugart YY, Pauls DL, Knowles JA, Fyer AJ, McCracken JT, Piacentini J, Wang Y, Willour VL, Cullen B, Liang KY, Hoehn-Saric R, Riddle MA, Rasmussen SA, Nestadt G. Further development of YBOCS dimensions in the OCD Collaborative Genetics study: symptoms vs. categories. Psychiatry Res. 2008 Jul 15; 160(1):83-93. View in: PubMed

Verma R, Holmans P, Knowles JA, Grover D, Evgrafov OV, Crowe RR, Scheftner WA, Weissman MM, DePaulo JR, Potash JB, Levinson DF. Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. Biol Psychiatry. 2008 Jun 15; 63(12):1185-9. View in: PubMed

Rosenzweig EB, Morse JH, Knowles JA, Chada KK, Khan AM, Roberts KE, McElroy JJ, Juskiw NK, Mallory NC, Rich S, Diamond B, Barst RJ. Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. J Heart Lung Transplant. 2008 Jun; 27(6):668-74. View in: PubMed

Cullen B, Samuels JF, Pinto A, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Greenberg BD, Knowles JA, Piacentini J, Bienvenu OJ, Grados MA, Riddle MA, Rasmussen SA, Pauls DL, Willour VL, Shugart YY, Liang KY, Hoehn-Saric R, Nestadt G. Demographic and clinical characteristics associated with treatment status in family members with obsessive-compulsive disorder. Depress Anxiety. 2008; 25(3):218-24. View in: PubMed

Verma R, Cutler DJ, Holmans P, Knowles JA, Crowe RR, Scheftner WA, Weissman MM, DePaulo JR, Levinson DF, Potash JB. Investigating the role of p11 (S100A10) sequence variation in susceptibility to major depression. Am J Med Genet B Neuropsychiatr Genet. 2007 Dec 5; 144B(8):1079-82. View in: PubMed

Lachman HM, Fann CS, Bartzis M, Evgrafov OV, Rosenthal RN, Nunes EV, Miner C, Santana M, Gaffney J, Riddick A, Hsu CL, Knowles JA. Genomewide suggestive linkage of opioid dependence to chromosome 14q. Hum Mol Genet. 2007 Jun 1; 16(11):1327-34. View in: PubMed

Chen X, Hale GA, Neale GA, Knowles J, Barfield RC, Wang YD, Kaushal D, Naeve DC, Srivastava DK, Tong X, Turner V, Naeve CW, Handgretinger R. A novel approach for the analysis of T-cell reconstitution by using a T-cell receptor beta-based oligonucleotide microarray in hematopoietic stem cell transplantation. Exp Hematol. 2007 May; 35(5):831-41. View in: PubMed

Samuels JF, Bienvenu OJ, Pinto A, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Grados MA, Greenberg BD, Knowles JA, Piacentini J, Cannistraro PA, Cullen B, Riddle MA, Rasmussen SA, Pauls DL, Willour VL, Shugart YY, Liang KY, Hoehn-Saric R, Nestadt G. Hoarding in obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study. Behav Res Ther. 2007 Apr; 45(4):673-86. View in: PubMed

Hasler G, Pinto A, Greenberg BD, Samuels J, Fyer AJ, Pauls D, Knowles JA, McCracken JT, Piacentini J, Riddle MA, Rauch SL, Rasmussen SA, Willour VL, Grados MA, Cullen B, Bienvenu OJ, Shugart YY, Liang KY, Hoehn-Saric R, Wang Y, Ronquillo J, Nestadt G, Murphy DL. Familiality of factor analysis-derived YBOCS dimensions in OCD-affected sibling pairs from the OCD Collaborative Genetics Study. Biol Psychiatry. 2007 Mar 1; 61(5):617-25. View in: PubMed

Samuels J, Shugart YY, Grados MA, Willour VL, Bienvenu OJ, Greenberg BD, Knowles JA, McCracken JT, Rauch SL, Murphy DL, Wang Y, Pinto A, Fyer AJ, Piacentini J, Pauls DL, Cullen B, Rasmussen SA, Hoehn-Saric R, Valle D, Liang KY, Riddle MA, Nestadt G. Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive-compulsive disorder: results from the OCD Collaborative Genetics Study. Am J Psychiatry. 2007 Mar; 164(3):493-9. View in: PubMed

Levinson DF, Evgrafov OV, Knowles JA, Potash JB, Weissman MM, Scheftner WA, Depaulo JR, Crowe RR, Murphy-Eberenz K, Marta DH, McInnis MG, Adams P, Gladis M, Miller EB, Thomas J, Holmans P. Genetics of recurrent early-onset major depression (GenRED): significant linkage on chromosome 15q25-q26 after fine mapping with single nucleotide polymorphism markers. Am J Psychiatry. 2007 Feb; 164(2):259-64. View in: PubMed

Holmans P, Weissman MM, Zubenko GS, Scheftner WA, Crowe RR, Depaulo JR, Knowles JA, Zubenko WN, Murphy-Eberenz K, Marta DH, Boutelle S, McInnis MG, Adams P, Gladis M, Steele J, Miller EB, Potash JB, Mackinnon DF, Levinson DF. Genetics of recurrent early-onset major depression (GenRED): final genome scan report. Am J Psychiatry. 2007 Feb; 164(2):248-58. View in: PubMed

Fyer AJ, Hamilton SP, Durner M, Haghighi F, Heiman GA, Costa R, Evgrafov O, Adams P, de Leon AB, Taveras N, Klein DF, Hodge SE, Weissman MM, Knowles JA. A third-pass genome scan in panic disorder: evidence for multiple susceptibility loci. Biol Psychiatry. 2006 Aug 15; 60(4):388-401. View in: PubMed

Samuels JF, Riddle MA, Greenberg BD, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Grados MA, Pinto A, Knowles JA, Piacentini J, Cannistraro PA, Cullen B, Bienvenu OJ, Rasmussen SA, Pauls DL, Willour VL, Shugart YY, Liang KY, Hoehn-Saric R, Nestadt G. The OCD collaborative genetics study: methods and sample description. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5; 141B(3):201-7. View in: PubMed

Willers ED, Newman JH, Loyd JE, Robbins IM, Wheeler LA, Prince MA, Stanton KC, Cogan JA, Runo JR, Byrne D, Humbert M, Simonneau G, Sztrymf B, Morse JA, Knowles JA, Roberts KE, McElroy JJ, Barst RJ, Phillips JA. Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension. Am J Respir Crit Care Med. 2006 Apr 1; 173(7):798-802. View in: PubMed

Wong WK, Morse JH, Knowles JA. Evolutionary conservation and mutational spectrum of BMPR2 gene. Gene. 2006 Mar 1; 368:84-93. View in: PubMed

Roberts KE, Barst RJ, McElroy JJ, Widlitz A, Chada K, Knowles JA, Morse JH. Bone morphogenetic protein receptor 2 mutations in adults and children with idiopathic pulmonary arterial hypertension: association with thyroid disease. Chest. 2005 Dec; 128(6 Suppl):618S. View in: PubMed

Wong WP, Knowles JA, Morse JH. Comparative analysis of BMPR2 gene and its mutations in idiopathic pulmonary arterial hypertension. Chest. 2005 Dec; 128(6 Suppl):615S. View in: PubMed

Wong WK, Knowles JA, Morse JH. Bone morphogenetic protein receptor type II C-terminus interacts with c-Src: implication for a role in pulmonary arterial hypertension. Am J Respir Cell Mol Biol. 2005 Nov; 33(5):438-46. View in: PubMed

Lochner C, Kinnear CJ, Hemmings SM, Seller C, Niehaus DJ, Knowles JA, Daniels W, Moolman-Smook JC, Seedat S, Stein DJ. Hoarding in obsessive-compulsive disorder: clinical and genetic correlates. J Clin Psychiatry. 2005 Sep; 66(9):1155-60. View in: PubMed

Lochner C, Hemmings SM, Kinnear CJ, Moolman-Smook JC, Corfield VA, Knowles JA, Niehaus DJ, Stein DJ. Corrigendum to "gender in obsessive-compulsive disorder: clinical and genetic findings" [Eur. Neuropsychopharmacol. 14 (2004) 105-113]. Eur Neuropsychopharmacol. 2004 Oct; 14(5):437-45. View in: PubMed

Hemmings SM, Kinnear CJ, Lochner C, Niehaus DJ, Knowles JA, Moolman-Smook JC, Corfield VA, Stein DJ. Early- versus late-onset obsessive-compulsive disorder: investigating genetic and clinical correlates. Psychiatry Res. 2004 Sep 30; 128(2):175-82. View in: PubMed

Newman JH, Fanburg BL, Archer SL, Badesch DB, Barst RJ, Garcia JG, Kao PN, Knowles JA, Loyd JE, McGoon MD, Morse JH, Nichols WC, Rabinovitch M, Rodman DM, Stevens T, Tuder RM, Voelkel NF, Gail DB. Pulmonary arterial hypertension: future directions: report of a National Heart, Lung and Blood Institute/Office of Rare Diseases workshop. Circulation. 2004 Jun 22; 109(24):2947-52. View in: PubMed

Newman JH, Trembath RC, Morse JA, Grunig E, Loyd JE, Adnot S, Coccolo F, Ventura C, Phillips JA, Knowles JA, Janssen B, Eickelberg O, Eddahibi S, Herve P, Nichols WC, Elliott G. Genetic basis of pulmonary arterial hypertension: current understanding and future directions. J Am Coll Cardiol. 2004 Jun 16; 43(12 Suppl S):33S-39S. View in: PubMed

Holmans P, Zubenko GS, Crowe RR, DePaulo JR, Scheftner WA, Weissman MM, Zubenko WN, Boutelle S, Murphy-Eberenz K, MacKinnon D, McInnis MG, Marta DH, Adams P, Knowles JA, Gladis M, Thomas J, Chellis J, Miller E, Levinson DF. Genomewide significant linkage to recurrent, early-onset major depressive disorder on chromosome 15q. Am J Hum Genet. 2004 Jun; 74(6):1154-67. View in: PubMed

Hamilton SP, Slager SL, Mayo D, Heiman GA, Klein DF, Hodge SE, Fyer AJ, Weissman MM, Knowles JA. Investigation of polymorphisms in the CREM gene in panic disorder. Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1; 126B(1):111-5. View in: PubMed

Lochner C, Hemmings SM, Kinnear CJ, Moolman-Smook JC, Corfield VA, Knowles JA, Niehaus DJ, Stein DJ. Gender in obsessive-compulsive disorder: clinical and genetic findings. Eur Neuropsychopharmacol. 2004 Mar; 14(2):105-13. View in: PubMed

Hamilton SP, Slager SL, De Leon AB, Heiman GA, Klein DF, Hodge SE, Weissman MM, Fyer AJ, Knowles JA. Evidence for genetic linkage between a polymorphism in the adenosine 2A receptor and panic disorder. Neuropsychopharmacology. 2004 Mar; 29(3):558-65. View in: PubMed

Nunes H, Humbert M, Sitbon O, Morse JH, Deng Z, Knowles JA, Le Gall C, Parent F, Garcia G, Hervé P, Barst RJ, Simonneau G. Prognostic factors for survival in human immunodeficiency virus-associated pulmonary arterial hypertension. Am J Respir Crit Care Med. 2003 May 15; 167(10):1433-9. View in: PubMed

Levinson DF, Zubenko GS, Crowe RR, DePaulo RJ, Scheftner WS, Weissman MM, Holmans P, Zubenko WN, Boutelle S, Murphy-Eberenz K, MacKinnon D, McInnis MG, Marta DH, Adams P, Sassoon S, Knowles JA, Thomas J, Chellis J. Genetics of recurrent early-onset depression (GenRED): design and preliminary clinical characteristics of a repository sample for genetic linkage studies. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15; 119B(1):118-30. View in: PubMed

Hamilton SP, Fyer AJ, Durner M, Heiman GA, Baisre de Leon A, Hodge SE, Knowles JA, Weissman MM. Further genetic evidence for a panic disorder syndrome mapping to chromosome 13q. Proc Natl Acad Sci U S A. 2003 Mar 4; 100(5):2550-5. View in: PubMed

Hemmings SM, Kinnear CJ, Niehaus DJ, Moolman-Smook JC, Lochner C, Knowles JA, Corfield VA, Stein DJ. Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder. Eur Neuropsychopharmacol. 2003 Mar; 13(2):93-8. View in: PubMed

Morse J, Barst R, Horn E, Cuervo N, Deng Z, Knowles J. Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations. J Rheumatol. 2002 Nov; 29(11):2379-81. View in: PubMed

Hamilton SP, Slager SL, Heiman GA, Deng Z, Haghighi F, Klein DF, Hodge SE, Weissman MM, Fyer AJ, Knowles JA. Evidence for a susceptibility locus for panic disorder near the catechol-O-methyltransferase gene on chromosome 22. Biol Psychiatry. 2002 Apr 1; 51(7):591-601. View in: PubMed

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