Year |
Citation |
Score |
2020 |
Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV, Freeze HH. Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. Journal of Inherited Metabolic Disease. PMID 32395830 DOI: 10.1002/jimd.12249 |
0.4 |
|
2020 |
Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, et al. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Molecular Genetics and Metabolism. PMID 32165008 DOI: 10.1016/j.ymgme.2020.02.005 |
0.4 |
|
2020 |
Ates KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen JA, Adams DR, Markello T, Tifft CJ, Settlage R, ... Gahl WA, et al. Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development. Disease Models & Mechanisms. PMID 32152089 DOI: 10.1242/dmm.041913 |
0.4 |
|
2020 |
Burke EA, Reichard KE, Wolfe LA, Brooks BP, DiGiovanna JJ, Hadley DW, Lehky TJ, Gropman AL, Tifft CJ, Gahl WA, Toro C, Adams D. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. American Journal of Medical Genetics. Part A. PMID 32150337 DOI: 10.1002/ajmg.a.61542 |
0.4 |
|
2020 |
Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, ... ... Gahl WA, et al. Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31949312 DOI: 10.1038/s41436-019-0737-1 |
0.4 |
|
2019 |
Mashimo M, Bu X, Aoyama K, Kato J, Ishiwata-Endo H, Stevens LA, Kasamatsu A, Wolfe LA, Toro C, Adams D, Markello T, Gahl WA, Moss J. PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells. Jci Insight. 4. PMID 30830864 DOI: 10.1172/jci.insight.124519 |
0.4 |
|
2019 |
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, ... ... Gahl WA, et al. SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. Human Mutation. PMID 30817854 DOI: 10.1002/humu.23731 |
0.4 |
|
2018 |
Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV. Glycomics in rare diseases: from diagnosis to mechanism. Translational Research : the Journal of Laboratory and Clinical Medicine. PMID 30423312 DOI: 10.1016/j.trsl.2018.10.005 |
0.4 |
|
2018 |
Davids M, Markello T, Wolfe LA, Chepa-Lotrea X, Tifft CJ, Gahl WA, Malicdan MC. Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Human Mutation. PMID 30362252 DOI: 10.1002/humu.23675 |
0.4 |
|
2018 |
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, ... ... Gahl WA, et al. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics. 103: 553-567. PMID 30290151 DOI: 10.1016/j.ajhg.2018.09.003 |
0.4 |
|
2018 |
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, et al. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics. PMID 29447355 DOI: 10.1093/hmg/ddy049 |
0.4 |
|
2018 |
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, et al. Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature Communications. 9: 337. PMID 29348635 DOI: 10.1038/s41467-017-02462-8 |
0.4 |
|
2018 |
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Harper F, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, et al. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics. PMID 29300972 DOI: 10.1093/hmg/ddx435 |
0.4 |
|
2017 |
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, et al. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature Communications. 8: 1257. PMID 29097652 DOI: 10.1038/s41467-017-01289-7 |
0.4 |
|
2017 |
Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, ... ... Gahl WA, et al. Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. Frontiers in Medicine. 4: 62. PMID 28603714 DOI: 10.3389/fmed.2017.00062 |
0.4 |
|
2017 |
Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, ... ... Gahl WA, et al. Abnormal glycosylation in Joubert syndrome type 10. Cilia. 6: 2. PMID 28344780 DOI: 10.1186/s13630-017-0048-6 |
0.4 |
|
2017 |
Zhang Y, Huang H, Zhao G, Yokoyama T, Vega H, Huang Y, Sood R, Bishop K, Maduro V, Accardi J, Toro C, Boerkoel CF, Lyons K, Gahl WA, Duan X, et al. Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. Plos Genetics. 13: e1006624. PMID 28241013 DOI: 10.1371/journal.pgen.1006624 |
0.4 |
|
2017 |
Zhang Y, Huang H, Zhao G, Yokoyama T, Vega H, Huang Y, Sood R, Bishop K, Maduro V, Accardi J, Toro C, Boerkoel CF, Lyons K, Gahl WA, Duan X, et al. ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. Plos Genetics. 13: e1006481. PMID 28158191 DOI: 10.1371/journal.pgen.1006481 |
0.4 |
|
2016 |
Links AE, Draper D, Lee E, Guzman J, Valivullah Z, Maduro V, Lebedev V, Didenko M, Tomlin G, Brudno M, Girdea M, Dumitriu S, Haendel MA, Mungall CJ, Smedley D, ... ... Gahl WA, et al. Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience. Frontiers in Medicine. 3: 39. PMID 27785453 DOI: 10.3389/fmed.2016.00039 |
0.4 |
|
2016 |
Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF. Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. The Journal of Pediatrics. PMID 27640355 DOI: 10.1016/j.jpeds.2016.08.043 |
0.4 |
|
2016 |
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Phenotypic evolution of UNC80 loss of function. American Journal of Medical Genetics. Part A. PMID 27513830 DOI: 10.1002/ajmg.a.37929 |
0.4 |
|
2016 |
Lee EM, Xu K, Mosbrook E, Links A, Guzman J, Adams DR, Flynn E, Valkanas E, Toro C, Tifft CJ, Boerkoel CF, Gahl WA, Sincan M. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27253732 DOI: 10.1038/gim.2016.47 |
0.4 |
|
2016 |
Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, ... ... Gahl WA, et al. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Orphanet Journal of Rare Diseases. 11: 62. PMID 27179618 DOI: 10.1186/s13023-016-0439-6 |
0.4 |
|
2016 |
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, ... ... Gahl WA, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/humu.22983 |
0.4 |
|
2016 |
Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. American Journal of Human Genetics. PMID 26805780 DOI: 10.1016/j.ajhg.2015.12.007 |
0.4 |
|
2015 |
Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics. PMID 26668131 DOI: 10.1136/jmedgenet-2015-103338 |
0.4 |
|
2015 |
Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K, Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF. Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data. Bmc Genomics. 16: 998. PMID 26602380 DOI: 10.1186/s12864-015-2107-y |
0.4 |
|
2015 |
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, ... ... Gahl WA, et al. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26562225 DOI: 10.1038/gim.2015.137 |
0.4 |
|
2015 |
Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, ... ... Gahl WA, et al. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human Mutation. PMID 26251998 DOI: 10.1002/humu.22851 |
0.4 |
|
2015 |
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, ... ... Gahl WA, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American Journal of Human Genetics. PMID 26119818 DOI: 10.1016/j.ajhg.2015.05.017 |
0.4 |
|
2015 |
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, ... ... Gahl WA, et al. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Molecular Genetics and Metabolism. 115: 128-40. PMID 25943031 DOI: 10.1016/j.ymgme.2015.04.007 |
0.4 |
|
2015 |
Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, et al. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. Orphanet Journal of Rare Diseases. 10: 27. PMID 25888122 DOI: 10.1186/s13023-015-0235-8 |
0.4 |
|
2015 |
Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, et al. MED23-associated intellectual disability in a non-consanguineous family. American Journal of Medical Genetics. Part A. 167: 1374-80. PMID 25845469 DOI: 10.1002/ajmg.a.37047 |
0.4 |
|
2015 |
Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Human Molecular Genetics. 24: 3050-7. PMID 25678555 DOI: 10.1093/hmg/ddv057 |
0.4 |
|
2014 |
Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. American Journal of Medical Genetics. Part A. 164: 2892-900. PMID 25251875 DOI: 10.1002/ajmg.a.36709 |
0.4 |
|
2014 |
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, ... ... Gahl WA, et al. Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. Molecular Genetics and Metabolism. 113: 161-70. PMID 24863970 DOI: 10.1016/j.ymgme.2014.04.001 |
0.4 |
|
2014 |
Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, Tifft CJ, ... ... Gahl WA, et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Annals of Clinical and Translational Neurology. 1: 190-198. PMID 24839611 DOI: 10.1002/acn3.39 |
0.4 |
|
2014 |
Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, ... ... Gahl WA, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 741-50. PMID 24784157 DOI: 10.1038/gim.2014.29 |
0.4 |
|
2014 |
Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nature Communications. 5: 3251. PMID 24504326 DOI: 10.1038/ncomms4251 |
0.4 |
|
2013 |
Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF. Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China. Frontiers of Medicine. 7: 389-94. PMID 23856975 DOI: 10.1007/s11684-013-0281-3 |
0.4 |
|
2013 |
Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, ... ... Gahl WA, et al. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Neuromuscular Disorders : Nmd. 23: 483-8. PMID 23453856 DOI: 10.1016/j.nmd.2013.01.013 |
0.4 |
|
2013 |
Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES, Kollmann TR, Demos M, Friedman JM, Speert DP, ... Gahl WA, et al. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. European Journal of Human Genetics : Ejhg. 21: 1232-9. PMID 23443029 DOI: 10.1038/ejhg.2013.20 |
0.4 |
|
2013 |
Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Kearns-Sayre syndrome presenting as isolated growth failure. Bmj Case Reports. 2013. PMID 23420719 DOI: 10.1136/bcr-2012-007272 |
0.4 |
|
2013 |
Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clinical Journal of the American Society of Nephrology : Cjasn. 8: 649-57. PMID 23293122 DOI: 10.2215/CJN.05360512 |
0.4 |
|
2012 |
Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC, Boerkoel CF, ... Gahl WA, et al. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology. 79: 123-6. PMID 22675082 DOI: 10.1212/WNL.0b013e31825f047a |
0.4 |
|
2012 |
Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Human Mutation. 33: 614-26. PMID 22311686 DOI: 10.1002/humu.22032 |
0.4 |
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2012 |
Fuentes Fajardo KV, Adams D, Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello T. Detecting false-positive signals in exome sequencing. Human Mutation. 33: 609-13. PMID 22294350 DOI: 10.1002/humu.22033 |
0.4 |
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2012 |
Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. Analysis of DNA sequence variants detected by high-throughput sequencing. Human Mutation. 33: 599-608. PMID 22290882 DOI: 10.1002/humu.22035 |
0.4 |
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2012 |
Sincan M, Simeonov DR, Adams D, Markello TC, Pierson TM, Toro C, Gahl WA, Boerkoel CF. VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. Human Mutation. 33: 593-8. PMID 22290570 DOI: 10.1002/humu.22034 |
0.4 |
|
2012 |
Markello TC, Carlson-Donohoe H, Sincan M, Adams D, Bodine DM, Farrar JE, Vlachos A, Lipton JM, Auerbach AD, Ostrander EA, Chandrasekharappa SC, Boerkoel CF, Gahl WA. Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. Molecular Genetics and Metabolism. 105: 665-71. PMID 22277120 DOI: 10.1016/j.ymgme.2011.12.015 |
0.4 |
|
2012 |
Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR, Gahl WA, Boerkoel CF. Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. Molecular Genetics and Metabolism. 105: 382-9. PMID 22264778 DOI: 10.1016/j.ymgme.2011.12.014 |
0.4 |
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2012 |
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 51-9. PMID 22237431 DOI: 10.1038/gim.0b013e318232a005 |
0.4 |
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2012 |
Gahl WA, Boerkoel CF, Boehm M. The NIH Undiagnosed Diseases Program: bonding scientists and clinicians. Disease Models & Mechanisms. 5: 3-5. PMID 22228787 DOI: 10.1242/dmm.009258 |
0.4 |
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2012 |
Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA, et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. European Journal of Human Genetics : Ejhg. 20: 476-9. PMID 22146942 DOI: 10.1038/ejhg.2011.222 |
0.4 |
|
2011 |
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, ... ... Gahl WA, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nature Genetics. 43: 732-4. PMID 21765412 DOI: 10.1038/ng.883 |
0.4 |
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