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WILLIAM JAMES CRAIGEN

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular Physiology & Biophysics
    DivisionMolecular Physiology & Biophysics

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics
    DivisionPediatrics-Administration


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    R01GM055713     (CRAIGEN, WILLIAM JAMES)May 1, 1997 - Apr 30, 2003
    NIH/NIGMS
    GENETIC APPROACHES TO MITOCHONDRIAL VDAC FUNCTION
    Role: Principal Investigator

    R01NS042319     (CRAIGEN, WILLIAM JAMES)Jul 1, 2001 - Jul 31, 2012
    NIH/NINDS
    The Role of Mitochondrial VDACs in Apoptosis
    Role: Principal Investigator

    R03HD048458     (CRAIGEN, WILLIAM JAMES)Jan 1, 2005 - Dec 31, 2006
    NIH/NICHD
    Transcriptional profiling in childhood diseases
    Role: Principal Investigator

    R21HL088352     (CRAIGEN, WILLIAM JAMES)Aug 1, 2007 - Jul 31, 2009
    NIH/NHLBI
    The mitochondrial permeability transition and heart failure
    Role: Principal Investigator

    R21HD056997     (CRAIGEN, WILLIAM JAMES)Jul 1, 2008 - Jun 30, 2010
    NIH/NICHD
    The role of creatine in health and disease
    Role: Principal Investigator

    R21HL084239     (CRAIGEN, WILLIAM JAMES)Feb 1, 2010 - May 31, 2012
    NIH/NHLBI
    A novel recessive genetic screen for mitochondrial phenotypes in mammalian cells
    Role: Principal Investigator

    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 Sep 05; 105(3):493-508. PMID: 31447100.
      View in: PubMed
    2. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 Sep; 21(9):1977-1986. PMID: 30670878.
      View in: PubMed
    3. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Craigen WJ, Bearden DR, Graham BH, Freeze HH. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037. PMID: 30503518.
      View in: PubMed
    4. Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018 11; 39(11):1614-1622. PMID: 30311389.
      View in: PubMed
    5. Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018 11; 39(11):1569-1580. PMID: 30311390.
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    6. Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2019 04; 21(4):987-993. PMID: 30181607.
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    7. Nemani N, Carvalho E, Tomar D, Dong Z, Ketschek A, Breves SL, Jaña F, Worth AM, Heffler J, Palaniappan P, Tripathi A, Subbiah R, Riitano MF, Seelam A, Manfred T, Itoh K, Meng S, Sesaki H, Craigen WJ, Rajan S, Shanmughapriya S, Caplan J, Prosser BL, Gill DL, Stathopulos PB, Gallo G, Chan DC, Mishra P, Madesh M. MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress. Cell Rep. 2018 04 24; 23(4):1005-1019. PMID: 29694881.
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    8. Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C, Zenker M, Lee B, Biesecker LG. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185. PMID: 29469822.
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    9. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083.
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    10. Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LC. Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes. PLoS One. 2017; 12(11):e0188610. PMID: 29155871.
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    11. Miszalski-Jamka K, Jefferies JL, Mazur W, Glowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Klys J, Venner E, Muzny DM, Rycaj J, Bialkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN. Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug; 10(4). PMID: 28798025.
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    12. Lai YC, Baker JS, Donti T, Graham BH, Craigen WJ, Anderson AE. Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus. Int J Mol Sci. 2017 Jul 12; 18(7). PMID: 28704930.
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    13. Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH. Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66. PMID: 28693988.
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    14. Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 01; 100(6):907-925. PMID: 28575647.
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    15. Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 04 06; 100(4):689. PMID: 28388435.
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    16. El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017 06; 1863(6):1539-1555. PMID: 28215579.
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    17. Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363. PMID: 28132691.
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    18. Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SH. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Rep. 2017; 35:33-37. PMID: 27900673.
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    19. Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420. PMID: 27657687.
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    20. Lauterwasser J, Todt F, Zerbes RM, Nguyen TN, Craigen W, Lazarou M, van der Laan M, Edlich F. The porin VDAC2 is the mitochondrial platform for Bax retrotranslocation. Sci Rep. 2016 09 13; 6:32994. PMID: 27620692.
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    21. Donti TR, Masand R, Scott DA, Craigen WJ, Graham BH. Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016 09; 119(1-2):68-74. PMID: 27484306.
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    22. Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn. 2016 05; 18(3):446-453. PMID: 26944031.
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    23. El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016 Apr; 117(4):407-12. PMID: 26851065.
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    24. Orhan Akman H, Emmanuele V, Kurt YG, Kurt B, Sheiko T, DiMauro S, Craigen WJ. A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015 Dec 01; 24(23):6801-10. PMID: 26385640.
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    25. Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45. PMID: 26385305.
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    26. Brahimi-Horn MC, Giuliano S, Saland E, Lacas-Gervais S, Sheiko T, Pelletier J, Bourget I, Bost F, Féral C, Boulter E, Tauc M, Ivan M, Garmy-Susini B, Popa A, Mari B, Sarry JE, Craigen WJ, Pouysségur J, Mazure NM. Knockout of Vdac1 activates hypoxia-inducible factor through reactive oxygen species generation and induces tumor growth by promoting metabolic reprogramming and inflammation. Cancer Metab. 2015; 3:8. PMID: 26322231.
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    27. Thomas T, Craigen WJ, Moore R, Czosek R, Jefferies JL. Arrhythmia as a cardiac manifestation in MELAS syndrome. Mol Genet Metab Rep. 2015 Sep; 4:9-10. PMID: 26937404.
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    28. Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 03; 21(3):417-27. PMID: 25738457.
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    29. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9. PMID: 25326635.
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    30. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83. PMID: 25439098.
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    31. Szafranski P, Golla S, Jin W, Fang P, Hixson P, Matalon R, Kinney D, Bock HG, Craigen W, Smith JL, Bi W, Patel A, Wai Cheung S, Bacino CA, Stankiewicz P. Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21. PMID: 25315662.
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    32. El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Jahoor F, Scaglia F, Craigen WJ. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion. 2014 Sep; 18:63-9. PMID: 25086207.
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    33. El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014 Mar; 48:85-91. PMID: 24412347.
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    34. Gatliff J, East D, Crosby J, Abeti R, Harvey R, Craigen W, Parker P, Campanella M. TSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control. Autophagy. 2014; 10(12):2279-96. PMID: 25470454.
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    35. Donti TR, Stromberger C, Ge M, Eldin KW, Craigen WJ, Graham BH. Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion. Dis Model Mech. 2014 Feb; 7(2):271-80. PMID: 24271779.
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    36. El-Hattab AW, Emrick LT, Williamson KC, Craigen WJ, Scaglia F. The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene. 2013 Dec; 1:8-14. PMID: 25411654.
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    37. Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL. Novel cardiovascular findings in association with a POMT2 mutation: three siblings with a-dystroglycanopathy. Eur J Hum Genet. 2014 Apr; 22(4):486-91. PMID: 24002165.
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    38. Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 05; 93(3):471-81. PMID: 23993193.
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    39. Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83. PMID: 23947751.
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    40. Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61. PMID: 23932787.
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    41. Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8. PMID: 23660394.
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    42. Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93. PMID: 23463613.
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    43. Manczak M, Sheiko T, Craigen WJ, Reddy PH. Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies. J Alzheimers Dis. 2013; 37(4):679-90. PMID: 23948905.
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    44. Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Wong LJ, Zhang VW. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med. 2013 Feb; 15(2):106-14. PMID: 22899091.
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    45. El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab. 2012 Nov; 107(3):247-52. PMID: 22819233.
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    46. Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ. SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat. 2012 Aug; 33(8):1192-200. PMID: 22488715.
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    47. Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55. PMID: 22543972.
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    48. Brunetti-Pierri N, Lamance KM, Lewis RA, Craigen WJ. 30-year follow-up of a patient with classic citrullinemia. Mol Genet Metab. 2012 Jun; 106(2):248-50. PMID: 22494546.
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    49. Wang J, Schmitt ES, Landsverk ML, Zhang VW, Li FY, Graham BH, Craigen WJ, Wong LJ. An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience. Genet Med. 2012 Jun; 14(6):620-6. PMID: 22402757.
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    50. Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun; 43(6):943-51. PMID: 22305237.
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    51. El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 Apr; 105(4):607-14. PMID: 22325939.
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    52. Craigen WJ. Mitochondrial DNA mutations: an overview of clinical and molecular aspects. Methods Mol Biol. 2012; 837:3-15. PMID: 22215537.
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    53. Martinez HR, Pignatelli R, Belmont JW, Craigen WJ, Jefferies JL. Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. Am J Med Genet A. 2011 Dec; 155A(12):3025-9. PMID: 22052614.
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    54. Raghavan A, Sheiko T, Graham BH, Craigen WJ. Voltage-dependant anion channels: novel insights into isoform function through genetic models. Biochim Biophys Acta. 2012 Jun; 1818(6):1477-85. PMID: 22051019.
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    55. Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ. Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet. 2011 Dec; 56(12):834-9. PMID: 22011815.
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    56. Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012 Feb; 20(2):176-9. PMID: 21934713.
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    57. Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet. 2011 Oct; 48(10):669-81. PMID: 21880868.
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    58. Akman HO, Sheiko T, Tay SK, Finegold MJ, Dimauro S, Craigen WJ. Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Hum Mol Genet. 2011 Nov 15; 20(22):4430-9. PMID: 21856731.
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    59. Blinder JJ, Martinez HR, Craigen WJ, Belmont J, Pignatelli RH, Jefferies JL. Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. Am J Med Genet A. 2011 Sep; 155A(9):2215-20. PMID: 21834050.
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    60. Breman AM, Probst FJ, Blazo MA, Schaaf CP, Roney EK, Craigen WJ, Bacino CA, Cheung SW. Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q. Am J Med Genet A. 2011 Jun; 155A(6):1465-8. PMID: 21567909.
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    61. Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL. Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8. PMID: 21484993.
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    62. Belmont JW, Craigen W, Martinez H, Jefferies JL. Genetic disorders with both hearing loss and cardiovascular abnormalities. Adv Otorhinolaryngol. 2011; 70:66-74. PMID: 21358187.
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    63. Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70. PMID: 21406331.
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    64. Akman HO, Raghavan A, Craigen WJ. Animal models of glycogen storage disorders. Prog Mol Biol Transl Sci. 2011; 100:369-88. PMID: 21377631.
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    65. Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 12 20; 5(12):e15687. PMID: 21187929.
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    66. Anflous-Pharayra K, Lee N, Armstrong DL, Craigen WJ. VDAC3 has differing mitochondrial functions in two types of striated muscles. Biochim Biophys Acta. 2011 Jan; 1807(1):150-6. PMID: 20875390.
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    67. Lazarou M, Stojanovski D, Frazier AE, Kotevski A, Dewson G, Craigen WJ, Kluck RM, Vaux DL, Ryan MT. Inhibition of Bak activation by VDAC2 is dependent on the Bak transmembrane anchor. J Biol Chem. 2010 Nov 19; 285(47):36876-83. PMID: 20851889.
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    68. Szigeti R, Chumpitazi BP, Finegold MJ, Ranganathan S, Craigen WJ, Carter BA, Tatevian N. Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Dev Pathol. 2010 Jul-Aug; 13(4):322-5. PMID: 20028211.
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    69. Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010 Jul; 133(Pt 7):2148-59. PMID: 20554659.
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    70. Wong LJ, Scaglia F, Graham BH, Craigen WJ. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab. 2010 Jun; 100(2):111-7. PMID: 20359921.
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    71. El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ. OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010 Feb; 152A(2):504-11. PMID: 20101692.
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    72. Graham BH, Li Z, Alesii EP, Versteken P, Lee C, Wang J, Craigen WJ. Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. J Biol Chem. 2010 Apr 09; 285(15):11143-53. PMID: 20110367.
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    73. Jefferies JL, Taylor MD, Rossano J, Belmont JW, Craigen WJ. Novel cardiac findings in periventricular nodular heterotopia. Am J Med Genet A. 2010 Jan; 152A(1):165-8. PMID: 20014127.
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    74. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41. PMID: 19914906.
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    75. El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010 Mar; 99(3):300-8. PMID: 20074988.
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    76. Roy SS, Ehrlich AM, Craigen WJ, Hajnóczky G. VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria. EMBO Rep. 2009 Dec; 10(12):1341-7. PMID: 19820692.
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    77. Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJ. PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol. 2010 Jan; 31(1):114-6. PMID: 19795160.
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    78. Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B. Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? Mol Genet Metab. 2009 Sep-Oct; 98(1-2):195-7. PMID: 19592285.
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    79. Erez A, Patel AJ, Wang X, Xia Z, Bhatt SS, Craigen W, Cheung SW, Lewis RA, Fang P, Davenport SL, Stankiewicz P, Lalani SR. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. 2009 Oct; 10(4):363-9. PMID: 19471977.
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    80. Chen Y, Craigen WJ, Riley DJ. Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1. Cell Cycle. 2009 Jan 15; 8(2):257-67. PMID: 19158487.
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    81. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 01; 18(5):861-71. PMID: 19064609.
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    82. De Marchi U, Szabò I, Cereghetti GM, Hoxha P, Craigen WJ, Zoratti M. A maxi-chloride channel in the inner membrane of mammalian mitochondria. Biochim Biophys Acta. 2008 Nov; 1777(11):1438-48. PMID: 18805391.
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    83. Craigen WJ, Graham BH. Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions. J Bioenerg Biomembr. 2008 Jun; 40(3):207-12. PMID: 18622693.
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    84. Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology. 2007 Oct; 46(4):1218-27. PMID: 17694548.
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    85. Baines CP, Kaiser RA, Sheiko T, Craigen WJ, Molkentin JD. Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death. Nat Cell Biol. 2007 May; 9(5):550-5. PMID: 17417626.
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    86. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. PMID: 17172942.
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    87. Anflous-Pharayra K, Cai ZJ, Craigen WJ. VDAC1 serves as a mitochondrial binding site for hexokinase in oxidative muscles. Biochim Biophys Acta. 2007 Feb; 1767(2):136-42. PMID: 17207767.
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    88. Brunetti-Pierri N, Opekun AR, Craigen WJ. Two familial cases of high blood galactose of unknown aetiology. J Inherit Metab Dis. 2006 Dec; 29(6):762. PMID: 16988899.
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    89. Krauskopf A, Eriksson O, Craigen WJ, Forte MA, Bernardi P. Properties of the permeability transition in VDAC1(-/-) mitochondria. Biochim Biophys Acta. 2006 May-Jun; 1757(5-6):590-5. PMID: 16626625.
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    90. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14. PMID: 16400610.
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    91. Sabirov RZ, Sheiko T, Liu H, Deng D, Okada Y, Craigen WJ. Genetic demonstration that the plasma membrane maxianion channel and voltage-dependent anion channels are unrelated proteins. J Biol Chem. 2006 Jan 27; 281(4):1897-904. PMID: 16291750.
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    92. Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JA. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005 Nov 01; 112(18):2799-804. PMID: 16246949.
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    93. Komarov AG, Deng D, Craigen WJ, Colombini M. New insights into the mechanism of permeation through large channels. Biophys J. 2005 Dec; 89(6):3950-9. PMID: 16199505.
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    94. Graham BH, Craigen WJ. Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression. Mol Genet Metab. 2005 Aug; 85(4):308-17. PMID: 15886041.
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    95. Golovko MY, Hovda JT, Cai ZJ, Craigen WJ, Murphy EJ. Tissue-dependent alterations in lipid mass in mice lacking glycerol kinase. Lipids. 2005 Mar; 40(3):287-93. PMID: 15957255.
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    96. Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW. SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8. PMID: 15710038.
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    97. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb; 76(2):358-60. PMID: 15609246.
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    98. Okada SF, O'Neal WK, Huang P, Nicholas RA, Ostrowski LE, Craigen WJ, Lazarowski ER, Boucher RC. Voltage-dependent anion channel-1 (VDAC-1) contributes to ATP release and cell volume regulation in murine cells. J Gen Physiol. 2004 Nov; 124(5):513-26. PMID: 15477379.
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    99. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31. PMID: 15466086.
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    100. Sano M, Wang SC, Shirai M, Scaglia F, Xie M, Sakai S, Tanaka T, Kulkarni PA, Barger PM, Youker KA, Taffet GE, Hamamori Y, Michael LH, Craigen WJ, Schneider MD. Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure. EMBO J. 2004 Sep 01; 23(17):3559-69. PMID: 15297879.
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    101. Komarov AG, Graham BH, Craigen WJ, Colombini M. The physiological properties of a novel family of VDAC-like proteins from Drosophila melanogaster. Biophys J. 2004 Jan; 86(1 Pt 1):152-62. PMID: 14695259.
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    102. Graham BH, Craigen WJ. Genetic approaches to analyzing mitochondrial outer membrane permeability. Curr Top Dev Biol. 2004; 59:87-118. PMID: 14975248.
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    103. Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation. 2003 Nov 25; 108(21):2672-8. PMID: 14623814.
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    104. Darbandi-Tonkabon R, Manion BD, Hastings WR, Craigen WJ, Akk G, Bracamontes JR, He Y, Sheiko TV, Steinbach JH, Mennerick SJ, Covey DF, Evers AS. Neuroactive steroid interactions with voltage-dependent anion channels: lack of relationship to GABA(A) receptor modulation and anesthesia. J Pharmacol Exp Ther. 2004 Feb; 308(2):502-11. PMID: 14593090.
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    105. Cheng EH, Sheiko TV, Fisher JK, Craigen WJ, Korsmeyer SJ. VDAC2 inhibits BAK activation and mitochondrial apoptosis. Science. 2003 Jul 25; 301(5632):513-7. PMID: 12881569.
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    106. Arnaud P, Monk D, Hitchins M, Gordon E, Dean W, Beechey CV, Peters J, Craigen W, Preece M, Stanier P, Moore GE, Kelsey G. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum Mol Genet. 2003 May 01; 12(9):1005-19. PMID: 12700169.
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    107. Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6. PMID: 12673657.
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    108. Levy M, Faas GC, Saggau P, Craigen WJ, Sweatt JD. Mitochondrial regulation of synaptic plasticity in the hippocampus. J Biol Chem. 2003 May 16; 278(20):17727-34. PMID: 12604600.
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    109. Reid Sutton V, Pan Y, Davis EC, Craigen WJ. A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan; 78(1):11-6. PMID: 12559843.
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    110. Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2002 Aug 06; 99(16):10282-6. PMID: 12142464.
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    111. Graham BH, David Sweatt J, Craigen WJ. Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial disease. Methods. 2002 Apr; 26(4):364-70. PMID: 12054928.
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    112. Weeber EJ, Levy M, Sampson MJ, Anflous K, Armstrong DL, Brown SE, Sweatt JD, Craigen WJ. The role of mitochondrial porins and the permeability transition pore in learning and synaptic plasticity. J Biol Chem. 2002 May 24; 277(21):18891-7. PMID: 11907043.
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