InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics

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

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

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

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

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

    R01GM055713     (CRAIGEN, WILLIAM JAMES)May 1, 1997 - Apr 30, 2003
    Role: Principal Investigator

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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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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT. PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625. PMID: 36905087.
      Citations:    Fields:    
    2. Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Hum Mol Genet. 2022 05 04; 31(9):1430-1442. PMID: 34788807; PMCID: PMC9271223.
      Citations:    Fields:    Translation:AnimalsCells
    3. Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Craigen W, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Thulin PC, Sadikovic B, Genevieve D, Hammer TB, D?murger F, Dubourg C, Fradin M, Str?mme P. DNA methylation episignature in Gabriele-de Vries?syndrome. Genet Med. 2022 04; 24(4):905-914. PMID: 35027293.
      Citations: 1     Fields:    Translation:HumansCells
    4. Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324. PMID: 33949769; PMCID: PMC8562426.
      Citations:    Fields:    Translation:Humans
    5. Rawal AS, VanCleave T, Yedlapati N, Saffitz JE, Craigen WJ, Jefferies JL. Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes. JACC Case Rep. 2021 Mar; 3(3):438-442. PMID: 34317553; PMCID: PMC8311029.
      Citations: 1     
    6. Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, Ficicioglu C, Tanpaiboon P, Craigen WJ, Rosenberg AS, Kishnani PS. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med. 2021 05; 23(5):845-855. PMID: 33495531; PMCID: PMC8107133.
      Citations: 4     Fields:    Translation:HumansPHPublic Health
    7. Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Undiagnosed Diseases Network, Lee B, M?ller MF, Y?pez VA. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1). PMID: 33001864; PMCID: PMC7773386.
      Citations: 14     Fields:    Translation:HumansCellsCTClinical Trials
    8. Dufies M, Rovini A, Craigen WJ, Meyenberg Cunha-de Padua M, Fabbri L, Lacas-Gervais S, Contenti J, Voyton C, Fazio S, Irondelle M, Mograbi B, Rouleau M, Sadaghianloo N, Brenner C, Bourgeais J, Herault O, Bost F, Mazure NM. Evidences of a Direct Relationship between Cellular Fuel Supply and Ciliogenesis Regulated by Hypoxic VDAC1-?C. Cancers (Basel). 2020 Nov 23; 12(11). PMID: 33238609; PMCID: PMC7700438.
      Citations: 3     
    9. Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Clinical and laboratory interpretation of mitochondrial mRNA variants. Hum Mutat. 2020 10; 41(10):1783-1796. PMID: 32652755.
      Citations: 4     Fields:    Translation:Humans
    10. Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Undiagnosed Diseases Network, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. PMID: 32693025; PMCID: PMC7413887.
      Citations: 21     Fields:    Translation:Humans
    11. Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Correction: Interpretation of mitochondrial tRNA variants. Genet Med. 2020 Jun; 22(6):1130. PMID: 32269312.
      Citations:    Fields:    
    12. Wong LC, Chen T, Schmitt ES, Wang J, Zhang S, Landsverk M, Li F, Tang S, Wang Y, Zhang VW, Craigen WJ. Response to Bai et al. Genet Med. 2020 08; 22(8):1420-1421. PMID: 32418988.
      Citations:    Fields:    Translation:Humans
    13. Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Correction: Interpretation of mitochondrial tRNA variants. Genet Med. 2020 May; 22(5):979. PMID: 32132679.
      Citations:    Fields:    
    14. Nowak G, Megyesi J, Craigen WJ. Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury. Biomolecules. 2020 04 10; 10(4). PMID: 32290153; PMCID: PMC7226369.
      Citations: 4     Fields:    Translation:AnimalsCells
    15. Dufies M, Gardie B, Borchiellini D, Leclercq NR, Ambrosetti D, Viotti J, Chamorey E, Craigen WJ, Fabbri L, Lacas-Gervais S, Gad-Lapiteau S, Parola J, Nottet N, Meyenberg Cunha de Padua M, Contenti J, Ferrero JM, Mograbi B, Richard S, Sadaghianloo N, Rouleau M, Mari B, Clavel S, Pag?s G, Pouyss?gur J, Bost F, Mazure NM. Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-?C in clear cell Renal Cell Carcinoma patients. Theranostics. 2020; 10(6):2696-2713. PMID: 32194829; PMCID: PMC7052902.
      Citations: 3     Fields:    Translation:HumansCells
    16. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WJ, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:1344. PMID: 32082103; PMCID: PMC7001677.
    17. Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Interpretation of mitochondrial tRNA variants. Genet Med. 2020 05; 22(5):917-926. PMID: 31965079.
      Citations: 9     Fields:    Translation:HumansCells
    18. Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443. PMID: 31757659; PMCID: PMC6898966.
      Citations: 9     Fields:    Translation:Humans
    19. Van Dijck A, Coluzzi E, Catanzaro G, 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, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Petrucci S, De Luca A, Ferretti E, Matullo G, Sgura A, Walkiewicz M, Kooy RF, Flex E, Martinelli S, Ciolfi A, Cecchetti S, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Pedace L, Miele E, Carcarino E, ?unap K, Bertini E, Rota R, Dallapiccola B, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 09 05; 105(3):493-508. PMID: 31447100; PMCID: PMC6731364.
      Citations: 20     Fields:    Translation:HumansCells
    20. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Members of the UCDC,, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986. PMID: 30670878; PMCID: PMC6650380.
      Citations: 16     Fields:    Translation:Humans
    21. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network, 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; PMCID: PMC6288200.
      Citations: 6     Fields:    Translation:HumansCells
    22. 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, Rivera-Mu?oz EA. 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; PMCID: PMC6225902.
      Citations: 55     Fields:    Translation:Humans
    23. 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, ClinGen Inborn Errors of Metabolism Working Group. 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; PMCID: PMC6556116.
      Citations: 17     Fields:    Translation:Humans
    24. 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; PMCID: PMC6401338.
      Citations: 8     Fields:    Translation:Humans
    25. Nemani N, Carvalho E, Tomar D, Dong Z, Ketschek A, Breves SL, 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, Ja?a F. MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress. Cell Rep. 2018 04 24; 23(4):1005-1019. PMID: 29694881; PMCID: PMC5973819.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    26. Almannai M, Alasmari A, Alqasmi A, Faqeih E, Al Mutairi F, Alotaibi M, Samman MM, Eyaid W, Aljadhai YI, Shamseldin HE, Craigen W, Alkuraya FS. Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Clin Genet. 2018 05; 93(5):1097-1102. PMID: 29327420.
      Citations: 14     Fields:    Translation:HumansCells
    27. 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, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG, Kuechler A, Sch?ffer AA, Zweier C. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185. PMID: 29469822; PMCID: PMC6105555.
      Citations: 45     Fields:    Translation:HumansCells
    28. 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; PMCID: PMC6359927.
      Citations: 130     Fields:    Translation:Humans
    29. 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; PMCID: PMC5695760.
      Citations:    Fields:    
    30. 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; PMCID: PMC5665372.
      Citations: 36     Fields:    Translation:Humans
    31. 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; PMCID: PMC5535992.
      Citations: 7     Fields:    Translation:AnimalsCells
    32. 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; PMCID: PMC5612879.
      Citations: 10     Fields:    Translation:HumansPHPublic Health
    33. 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, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, 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, Andrieux J, Stray-Pedersen A, T?rring PM, Powis Z. 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; PMCID: PMC5473733.
      Citations: 45     Fields:    Translation:HumansCells
    34. Besnard T, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, 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, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Nugent KM, Gibson JB, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Stankiewicz P, Isidor B, K?ry S, Ebstein F, Latypova X, Denomm?-Pichon AS, Schmitt S, Malan V, Brice?o I, G?mez A, Cogn? B, B?zieau S. 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; PMCID: PMC5384094.
      Citations: 4     Fields:    
    35. 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.
      Citations: 82     Fields:    Translation:HumansAnimals
    36. Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Khan K, Sacharow S, Glaser K, Cho MT, Roeder E, Monaghan KG, Yuan B, Xia F, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Nugent KM, Gibson JB, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Katsanis N, Rosenfeld JA, Golzio C, Stankiewicz P, K?ry S, Besnard T, Ebstein F, Lehmann A, Latypova X, Pacault M, Bieth E, Perrin-Sabourin L, Jacquemont ML, Denomm?-Pichon AS, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Brice?o I, G?mez A, Cogn? B, Redon R, Kloetzel PM, B?zieau S, 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; PMCID: PMC5294671.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    37. Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr; 91(4):634-639. PMID: 27743463.
      Citations: 7     Fields:    Translation:Humans
    38. 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; PMCID: PMC5585109.
      Citations: 2     
    39. 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; PMCID: PMC5362362.
      Citations: 36     Fields:    Translation:Humans
    40. 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; PMCID: PMC5020405.
      Citations: 33     Fields:    Translation:HumansCells
    41. 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; PMCID: PMC5031536.
      Citations: 3     Fields:    Translation:HumansCells
    42. 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.
      Citations: 25     Fields:    Translation:HumansCells
    43. 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; PMCID: PMC4818739.
      Citations: 21     Fields:    Translation:Humans
    44. Orhan Akman H, Emmanuele V, Sheiko T, DiMauro S, Craigen WJ, Kurt YG, Kurt B. A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015 Dec 01; 24(23):6801-10. PMID: 26385640; PMCID: PMC4634380.
      Citations: 10     Fields:    Translation:Animals
    45. 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; PMCID: PMC4790081.
      Citations: 26     Fields:    Translation:HumansPHPublic Health
    46. Brahimi-Horn MC, Giuliano S, Sheiko T, Pelletier J, Bourget I, Boulter E, Ivan M, Garmy-Susini B, Craigen WJ, Mazure NM, Saland E, Lacas-Gervais S, Bost F, F?ral C, Tauc M, Popa A, Mari B, Sarry JE, Pouyss?gur J. 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; PMCID: PMC4551760.
      Citations: 17     
    47. 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; PMCID: PMC4750557.
      Citations: 4     
    48. Besse A, Wu P, Donti T, Graham BH, Craigen WJ, Moretti P, Lalani S, Scott KL, Bonnen PE, Bruni F, McFarland R, Taylor RW. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 03; 21(3):417-27. PMID: 25738457; PMCID: PMC4757431.
      Citations: 60     Fields:    Translation:HumansCells
    49. 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; PMCID: PMC4326249.
      Citations: 588     Fields:    Translation:Humans
    50. 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; PMCID: PMC4225583.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    51. 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; PMCID: PMC4463505.
      Citations: 20     Fields:    Translation:HumansCells
    52. 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; PMCID: PMC4252755.
      Citations: 16     Fields:    Translation:HumansCells
    53. 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.
      Citations: 14     Fields:    Translation:HumansCells
    54. 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; PMCID: PMC4502750.
      Citations: 76     Fields:    Translation:AnimalsCells
    55. 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; PMCID: PMC3917248.
      Citations: 13     Fields:    Translation:AnimalsCells
    56. 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; PMCID: PMC4205025.
      Citations: 9     
    57. 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; PMCID: PMC3953896.
      Citations: 5     Fields:    Translation:HumansCells
    58. 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; PMCID: PMC3769921.
      Citations: 61     Fields:    Translation:HumansCells
    59. 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; PMCID: PMC3751849.
      Citations: 8     Fields:    Translation:Humans
    60. Chanprasert S, Wang J, Weng SW, Enns GM, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ, Bou? DR. 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.
      Citations: 9     Fields:    Translation:Humans
    61. 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.
      Citations: 9     Fields:    Translation:HumansCells
    62. 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.
      Citations: 39     Fields:    Translation:HumansCells
    63. 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; PMCID: PMC3925364.
      Citations: 23     Fields:    Translation:AnimalsCells
    64. 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.
      Citations: 22     Fields:    Translation:HumansCells
    65. 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.
      Citations: 40     Fields:    Translation:HumansCells
    66. 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.
      Citations: 14     Fields:    Translation:Humans
    67. 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; PMCID: PMC3392111.
      Citations: 10     Fields:    Translation:HumansCells
    68. 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.
      Citations: 5     Fields:    Translation:Humans
    69. 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.
      Citations: 15     Fields:    Translation:HumansCells
    70. 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.
      Citations: 10     Fields:    Translation:Humans
    71. 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; PMCID: PMC4093801.
      Citations: 52     Fields:    Translation:Humans
    72. Craigen WJ. Mitochondrial DNA mutations: an overview of clinical and molecular aspects. Methods Mol Biol. 2012; 837:3-15. PMID: 22215537.
      Citations: 6     Fields:    Translation:HumansAnimals
    73. 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.
      Citations: 4     Fields:    Translation:Humans
    74. 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; PMCID: PMC4273737.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    75. 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; PMCID: PMC7512120.
      Citations: 9     Fields:    Translation:HumansCells
    76. 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; PMCID: PMC3260920.
      Citations: 16     Fields:    Translation:HumansCells
    77. 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.
      Citations: 58     Fields:    Translation:Humans
    78. 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; PMCID: PMC3196891.
      Citations: 14     Fields:    Translation:Animals
    79. 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.
      Citations: 9     Fields:    Translation:HumansCells
    80. 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; PMCID: PMC3651890.
      Citations: 1     Fields:    Translation:HumansCells
    81. 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.
      Citations: 10     Fields:    Translation:Humans
    82. 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.
      Citations: 2     Fields:    Translation:HumansCells
    83. 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.
      Citations: 13     Fields:    Translation:Humans
    84. Akman HO, Raghavan A, Craigen WJ. Animal models of glycogen storage disorders. Prog Mol Biol Transl Sci. 2011; 100:369-88. PMID: 21377631.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    85. 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; PMCID: PMC3004954.
      Citations: 23     Fields:    Translation:HumansCells
    86. 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; PMCID: PMC2998388.
      Citations: 16     Fields:    Translation:AnimalsCells
    87. 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; PMCID: PMC2978617.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    88. 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.
      Citations: 7     Fields:    Translation:HumansCells
    89. 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, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT, Feillet F. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010 Jul; 133(Pt 7):2148-59. PMID: 20554659; PMCID: PMC2892945.
      Citations: 62     Fields:    Translation:Humans
    90. 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.
      Citations: 13     Fields:    Translation:HumansCells
    91. 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.
      Citations: 13     Fields:    Translation:HumansCells
    92. 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; PMCID: PMC2856991.
      Citations: 21     Fields:    Translation:AnimalsCells
    93. 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.
      Citations: 7     Fields:    Translation:HumansCells
    94. 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; PMCID: PMC3158566.
      Citations: 213     Fields:    Translation:HumansCells
    95. 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.
      Citations: 33     Fields:    Translation:Humans
    96. Roy SS, Ehrlich AM, Craigen WJ, Hajn?czky 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; PMCID: PMC2799216.
      Citations: 62     Fields:    Translation:AnimalsCells
    97. 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.
      Citations: 1     Fields:    Translation:Humans
    98. Yamagata H, Shimizu S, Nishida Y, Watanabe Y, Craigen WJ, Tsujimoto Y. Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax. Oncogene. 2009 Oct 08; 28(40):3563-72. PMID: 19617898.
      Citations: 22     Fields:    Translation:AnimalsCells
    99. 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; PMCID: PMC2746757.
      Citations: 19     Fields:    Translation:Humans
    100. 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.
      Citations: 13     Fields:    Translation:HumansCells
    101. Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009 May; 46(5):308-14. PMID: 19188198.
      Citations: 29     Fields:    Translation:HumansCells
    102. 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; PMCID: PMC2673983.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    103. 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; PMCID: PMC2722226.
      Citations: 58     Fields:    Translation:HumansCells
    104. De Marchi U, Cereghetti GM, Hoxha P, Craigen WJ, Zoratti M, Szab? I. A maxi-chloride channel in the inner membrane of mammalian mitochondria. Biochim Biophys Acta. 2008 Nov; 1777(11):1438-48. PMID: 18805391.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    105. 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; PMCID: PMC4822497.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    106. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29(2):330-1. PMID: 18205204.
      Citations: 43     Fields:    Translation:Humans
    107. Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007 Nov; 72(5):411-9. PMID: 17916097.
      Citations: 5     Fields:    Translation:HumansCells
    108. 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.
      Citations: 36     Fields:    Translation:Humans
    109. 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; PMCID: PMC2680246.
      Citations: 400     Fields:    Translation:AnimalsCells
    110. 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.
      Citations: 121     Fields:    Translation:HumansCells
    111. 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.
      Citations: 32     Fields:    Translation:AnimalsCells
    112. Brunetti-Pierri N, Wilfong AA, Hunter JV, Craigen WJ. A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. Neuropediatrics. 2006 Oct; 37(5):308-11. PMID: 17236112.
      Citations: 5     Fields:    Translation:Humans
    113. 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.
      Citations:    Fields:    Translation:HumansCells
    114. 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.
      Citations: 91     Fields:    Translation:AnimalsCells
    115. 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; PMCID: PMC1380237.
      Citations: 117     Fields:    Translation:HumansAnimalsCells
    116. 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.
      Citations: 24     Fields:    Translation:AnimalsCells
    117. 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.
      Citations: 97     Fields:    Translation:Humans
    118. 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; PMCID: PMC1366961.
      Citations: 24     Fields:    Translation:AnimalsCells
    119. 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.
      Citations: 13     Fields:    Translation:AnimalsCells
    120. 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.
      Citations: 1     Fields:    Translation:Animals
    121. 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; PMCID: PMC550653.
      Citations: 2     Fields:    Translation:Humans
    122. 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; PMCID: PMC1196381.
      Citations: 62     Fields:    Translation:Humans
    123. 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; PMCID: PMC2234005.
      Citations: 74     Fields:    Translation:AnimalsCells
    124. 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.
      Citations: 115     Fields:    Translation:HumansCells
    125. 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; PMCID: PMC516624.
      Citations: 63     Fields:    Translation:HumansAnimalsCells
    126. Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36. PMID: 15253763.
      Citations: 12     Fields:    Translation:HumansCells
    127. Elefteriou F, Takeda S, Ebihara K, Magre J, Patano N, Kim CA, Ogawa Y, Liu X, Ware SM, Craigen WJ, Robert JJ, Vinson C, Nakao K, Capeau J, Karsenty G. Serum leptin level is a regulator of bone mass. Proc Natl Acad Sci U S A. 2004 Mar 02; 101(9):3258-63. PMID: 14978271; PMCID: PMC365777.
      Citations: 110     Fields:    Translation:HumansAnimals
    128. 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; PMCID: PMC1303779.
      Citations: 16     Fields:    Translation:Cells
    129. Graham BH, Craigen WJ. Genetic approaches to analyzing mitochondrial outer membrane permeability. Curr Top Dev Biol. 2004; 59:87-118. PMID: 14975248.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    130. 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.
      Citations: 151     Fields:    Translation:Humans
    131. 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.
      Citations: 12     Fields:    Translation:AnimalsCells
    132. 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.
      Citations: 312     Fields:    Translation:HumansAnimalsCells
    133. 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.
      Citations: 59     Fields:    Translation:HumansAnimalsCells
    134. 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.
      Citations: 6     Fields:    Translation:HumansCells
    135. 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.
      Citations: 70     Fields:    Translation:AnimalsCells
    136. 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.
      Citations: 9     Fields:    Translation:HumansAnimals
    137. 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; PMCID: PMC124905.
      Citations: 121     Fields:    Translation:HumansCells
    138. 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.
      Citations: 64     Fields:    Translation:AnimalsCells
    139. Bodamer OA, Bravermann RM, Craigen WJ. Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. J Paediatr Child Health. 2001 Oct; 37(5):520-2. PMID: 11885723.
      Citations: 1     Fields:    Translation:Humans
    140. Anflous K, Armstrong DD, Craigen WJ. Altered mitochondrial sensitivity for ADP and maintenance of creatine-stimulated respiration in oxidative striated muscles from VDAC1-deficient mice. J Biol Chem. 2001 Jan 19; 276(3):1954-60. PMID: 11044447.
      Citations: 65     Fields:    Translation:AnimalsCells
    141. Kosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo N. Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. J Med Genet. 2000 Sep; 37(9):E19. PMID: 10978366; PMCID: PMC1734674.
      Citations: 3     Fields:    Translation:HumansCells
    142. Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet. 2000 Jul 01; 9(11):1587-95. PMID: 10861285.
      Citations: 54     Fields:    Translation:HumansCells
    143. Decker WK, Craigen WJ. The tissue-specific, alternatively spliced single ATG exon of the type 3 voltage-dependent anion channel gene does not create a truncated protein isoform in vivo. Mol Genet Metab. 2000 May; 70(1):69-74. PMID: 10833333.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    144. Huang T, Yang W, Pereira AC, Craigen WJ, Shih VE. Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q. Biochem Biophys Res Commun. 2000 Feb 16; 268(2):298-301. PMID: 10679197.
      Citations: 1     Fields:    Translation:HumansCells
    145. Kosaki K, Kosaki R, Craigen WJ, Matsuo N. Isoform-specific imprinting of the human PEG1/MEST gene. Am J Hum Genet. 2000 Jan; 66(1):309-12. PMID: 10631159; PMCID: PMC1288335.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    146. Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH. Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. Hum Genet. 2000 Jan; 106(1):19-28. PMID: 10982177.
      Citations: 8     Fields:    Translation:HumansCells
    147. Wu S, Sampson MJ, Decker WK, Craigen WJ. Each mammalian mitochondrial outer membrane porin protein is dispensable: effects on cellular respiration. Biochim Biophys Acta. 1999 Oct 13; 1452(1):68-78. PMID: 10525161.
      Citations: 41     Fields:    Translation:AnimalsCells
    148. Decker WK, Bowles KR, Schatte EC, Towbin JA, Craigen WJ. Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis. Mamm Genome. 1999 Oct; 10(10):1041-2. PMID: 10501981.
      Citations: 8     Fields:    Translation:HumansCells
    149. Pan Y, Decker WK, Huq AH, Craigen WJ. Retrotransposition of glycerol kinase-related genes from the X chromosome to autosomes: functional and evolutionary aspects. Genomics. 1999 Aug 01; 59(3):282-90. PMID: 10444329.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    150. Xu X, Decker W, Sampson MJ, Craigen WJ, Colombini M. Mouse VDAC isoforms expressed in yeast: channel properties and their roles in mitochondrial outer membrane permeability. J Membr Biol. 1999 Jul 15; 170(2):89-102. PMID: 10430654.
      Citations: 64     Fields:    Translation:AnimalsCells
    151. Bodamer OA, Craigen WJ. Importance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199. PMID: 9934989.
      Citations:    Fields:    Translation:Humans
    152. van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA. D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol. 1999 Jan; 45(1):111-9. PMID: 9894884.
      Citations: 22     Fields:    Translation:Humans
    153. Sampson MJ, Ross L, Decker WK, Craigen WJ. A novel isoform of the mitochondrial outer membrane protein VDAC3 via alternative splicing of a 3-base exon. Functional characteristics and subcellular localization. J Biol Chem. 1998 Nov 13; 273(46):30482-6. PMID: 9804816.
      Citations: 24     Fields:    Translation:AnimalsCells
    154. Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet. 1998 Jun; 62(6):1551-5. PMID: 9585585; PMCID: PMC1377136.
      Citations: 18     Fields:    Translation:HumansCells
    155. Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat. 1998; 11(4):286-94. PMID: 9554745.
      Citations: 28     Fields:    Translation:HumansCells
    156. Craigen WJ, Lindsay EA, Bricker JT, Hawkins EP, Baldini A. Deletion of chromosome 22q11 and pseudohypoparathyroidism. Am J Med Genet. 1997 Oct 03; 72(1):63-5. PMID: 9295077.
      Citations: 4     Fields:    Translation:HumansCells
    157. Huq AH, Lovell RS, Ou CN, Beaudet AL, Craigen WJ. X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death. Hum Mol Genet. 1997 Oct; 6(11):1803-9. PMID: 9302256.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    158. Craigen WJ, Levy ML, Lewis RA. Sch?pf-Schulz-Passarge syndrome with an unusual pattern of inheritance. Am J Med Genet. 1997 Aug 08; 71(2):186-8. PMID: 9217219.
      Citations: 1     Fields:    Translation:Humans
    159. Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet. 1997 Aug; 61(2):395-401. PMID: 9311745; PMCID: PMC1715914.
      Citations: 11     Fields:    Translation:HumansCells
    160. Sampson MJ, Lovell RS, Craigen WJ. The murine voltage-dependent anion channel gene family. Conserved structure and function. J Biol Chem. 1997 Jul 25; 272(30):18966-73. PMID: 9228078.
      Citations: 79     Fields:    Translation:HumansAnimalsCells
    161. Sutton VR, Pan Y, Craigen WJ. Regional localization of the mouse argininosuccinate lyase gene to chromosome 5. Mamm Genome. 1997; 8(11):871. PMID: 9337408.
      Citations: 1     Fields:    Translation:HumansAnimals
    162. Hong YS, Kerr DS, Craigen WJ, Tan J, Pan Y, Lusk M, Patel MS. Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. Hum Mol Genet. 1996 Dec; 5(12):1925-30. PMID: 8968745.
      Citations: 20     Fields:    Translation:HumansCells
    163. Guo W, Lovell RS, Zhang YH, Huang BL, Burris TP, Craigen WJ, McCabe ER. Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus. Gene. 1996 Oct 31; 178(1-2):31-4. PMID: 8921887.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    164. Huq AH, Lovell RS, Sampson MJ, Decker WK, Dinulos MB, Disteche CM, Craigen WJ. Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene. Genomics. 1996 Sep 15; 36(3):530-4. PMID: 8884278.
      Citations: 8     Fields:    Translation:AnimalsCells
    165. Sampson MJ, Lovell RS, Davison DB, Craigen WJ. A novel mouse mitochondrial voltage-dependent anion channel gene localizes to chromosome 8. Genomics. 1996 Aug 15; 36(1):192-6. PMID: 8812436.
      Citations: 24     Fields:    Translation:AnimalsCells
    166. Sampson MJ, Lovell RS, Craigen WJ. Isolation, characterization, and mapping of two mouse mitochondrial voltage-dependent anion channel isoforms. Genomics. 1996 Apr 15; 33(2):283-8. PMID: 8660977.
      Citations: 27     Fields:    Translation:AnimalsCells
    167. Craigen WJ. Persistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity. J Inherit Metab Dis. 1996; 19(6):793-4. PMID: 8982955.
      Citations: 3     Fields:    Translation:Humans
    168. Craigen WJ. Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. Pediatr Neurol. 1996 Jan; 14(1):69-71. PMID: 8652022.
      Citations: 13     Fields:    Translation:HumansCells
    169. Jones D, Kay M, Craigen W, McCabe E, Hawkins H, Dominey A. Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia. J Am Acad Dermatol. 1995 Aug; 33(2 Pt 2):323-6. PMID: 7615878.
      Citations:    Fields:    Translation:Humans
    170. Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50. PMID: 7977460.
      Citations: 9     Fields:    Translation:HumansCells
    171. Craigen WJ, Jakobs C, Sekul EA, Levy ML, Gibson KM, Butler IJ, Herman GE. D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. Pediatr Neurol. 1994 Feb; 10(1):49-53. PMID: 7515241.
      Citations: 9     Fields:    Translation:Humans
    172. Wong LJ, Craigen WJ, O'Brien WE. Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. Ann Intern Med. 1994 Feb 01; 120(3):216-7. PMID: 8273985.
      Citations: 13     Fields:    Translation:Humans
    173. Gibson KM, Craigen W, Herman GE, Jakobs C. D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis. 1993; 16(3):497-500. PMID: 7609436.
      Citations: 15     Fields:    Translation:Humans
    174. Jones SN, Jones PG, Ibarguen H, Caskey CT, Craigen WJ. Induction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice. Nucleic Acids Res. 1991 Dec 11; 19(23):6547-51. PMID: 1754392; PMCID: PMC329216.
      Citations: 8     Fields:    Translation:AnimalsCells
    175. Jones SN, Grompe M, Munir MI, Veres G, Craigen WJ, Caskey CT. Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice. J Biol Chem. 1990 Aug 25; 265(24):14684-90. PMID: 2387875.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    176. Craigen WJ, Lee CC, Caskey CT. Recent advances in peptide chain termination. Mol Microbiol. 1990 Jun; 4(6):861-5. PMID: 2215213; PMCID: PMC7168415.
      Citations: 30     Fields:    Translation:Cells
    177. Lee CC, Craigen WJ, Muzny DM, Harlow E, Caskey CT. Cloning and expression of a mammalian peptide chain release factor with sequence similarity to tryptophanyl-tRNA synthetases. Proc Natl Acad Sci U S A. 1990 May; 87(9):3508-12. PMID: 2185472; PMCID: PMC53930.
      Citations: 18     Fields:    Translation:AnimalsCells
    178. Gibson KM, Lee CF, Kamali V, Johnston K, Beaudet AL, Craigen WJ, Powell BR, Schwartz R, Tsai MY, Tuchman M. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. Clin Chem. 1990 Feb; 36(2):297-303. PMID: 2302772.
      Citations: 10     Fields:    Translation:HumansCells
    179. Lee CC, Kohara Y, Akiyama K, Smith CL, Craigen WJ, Caskey CT. Rapid and precise mapping of the Escherichia coli release factor genes by two physical approaches. J Bacteriol. 1988 Oct; 170(10):4537-41. PMID: 3049538; PMCID: PMC211487.
      Citations: 14     Fields:    Translation:Cells
    180. Craigen WJ, Caskey CT. The function, structure and regulation of E. coli peptide chain release factors. Biochimie. 1987 Oct; 69(10):1031-41. PMID: 3126822.
      Citations: 13     Fields:    Translation:Cells
    181. Craigen WJ, Caskey CT. Translational frameshifting: where will it stop? Cell. 1987 Jul 03; 50(1):1-2. PMID: 3297347.
      Citations: 44     Fields:    Translation:AnimalsCells
    182. Craigen WJ, Caskey CT. Expression of peptide chain release factor 2 requires high-efficiency frameshift. Nature. 1986 Jul 17-23; 322(6076):273-5. PMID: 3736654.
      Citations: 142     Fields:    Translation:Cells
    183. Veres G, Craigen WJ, Caskey CT. The 5' flanking region of the ornithine transcarbamylase gene contains DNA sequences regulating tissue-specific expression. J Biol Chem. 1986 Jun 15; 261(17):7588-91. PMID: 3011788.
      Citations: 9     Fields:    Translation:AnimalsCells
    184. Craigen WJ, Cook RG, Tate WP, Caskey CT. Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2. Proc Natl Acad Sci U S A. 1985 Jun; 82(11):3616-20. PMID: 3889910; PMCID: PMC397836.
      Citations: 112     Fields:    Translation:Cells
    185. Craigen W, Bronson FH. Deterioration of the capacity for sexual arousal in aged male mice. Biol Reprod. 1982 Jun; 26(5):869-74. PMID: 7093405.
      Citations: 1     Fields:    Translation:Animals
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