| Year |
Citation |
Score |
| 2022 |
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, ... ... Northrup H, et al. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. Hgg Advances. 3: 100074. PMID 35047859 DOI: 10.1016/j.xhgg.2021.100074 |
0.304 |
|
| 2020 |
Farach LS, Richard MA, Lupo PJ, Sahin M, Krueger DA, Wu JY, Bebin EM, Au KS, Northrup H. Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex. Pediatric Neurology. 113: 46-50. PMID 33011641 DOI: 10.1016/J.Pediatrneurol.2020.07.015 |
0.309 |
|
| 2020 |
Hillman P, Baker C, Hebert L, Brown M, Hixson J, Ashley-Koch A, Morrison AC, Northrup H, Au KS. Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks. Molecular Genetics & Genomic Medicine. e1495. PMID 32960507 DOI: 10.1002/Mgg3.1495 |
0.352 |
|
| 2020 |
Streff H, Posey JE, Mauer CB, Krempely K, Potocki L, Northrup H. TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family. Pediatric Neurology. PMID 32654957 DOI: 10.1016/J.Pediatrneurol.2020.04.017 |
0.312 |
|
| 2020 |
Mowrey K, Koenig MK, Szabo CA, Samuels J, Mulligan S, Pearson DA, Northrup H. Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family. Molecular Genetics & Genomic Medicine. e1296. PMID 32383331 DOI: 10.1002/Mgg3.1296 |
0.359 |
|
| 2019 |
Scherrer B, Prohl AK, Taquet M, Kapur K, Peters JM, Tomas-Fernandez X, Davis PE, M Bebin E, Krueger DA, Northrup H, Y Wu J, Sahin M, Warfield SK. The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex. Cerebral Cortex (New York, N.Y. : 1991). PMID 31812987 DOI: 10.1093/Cercor/Bhz233 |
0.317 |
|
| 2019 |
Farach LS, Pearson DA, Woodhouse JP, Schraw JM, Sahin M, Krueger DA, Wu JY, Bebin EM, Lupo PJ, Au KS, Northrup H. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatric Neurology. PMID 31005478 DOI: 10.1016/J.Pediatrneurol.2019.03.003 |
0.372 |
|
| 2018 |
Hussain SA, Schmid E, Peters JM, Goyal M, Bebin EM, Northrup H, Sahin M, Krueger DA, Wu JY. High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. Epilepsy Research. 148: 1-7. PMID 30296632 DOI: 10.1016/J.Eplepsyres.2018.09.016 |
0.307 |
|
| 2018 |
Peron A, Au KS, Northrup H. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 30255984 DOI: 10.1002/Ajmg.C.31651 |
0.341 |
|
| 2017 |
Findley TO, Tenpenny JC, O'Byrne MR, Morrison AC, Hixson JE, Northrup H, Au KS. Mutations in folate transporter genes and risk for human myelomeningocele. American Journal of Medical Genetics. Part A. PMID 28948692 DOI: 10.1002/Ajmg.A.38472 |
0.721 |
|
| 2017 |
Au KS, Findley TO, Northrup H. Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. American Journal of Medical Genetics. Part A. PMID 28944587 DOI: 10.1002/Ajmg.A.38478 |
0.392 |
|
| 2017 |
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, ... ... Northrup H, et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Medicine. 9: 83. PMID 28934986 DOI: 10.1186/S13073-017-0472-7 |
0.409 |
|
| 2017 |
Martin KR, Zhou W, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, DeRoos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, ... Northrup H, et al. The genomic landscape of tuberous sclerosis complex. Nature Communications. 8: 15816. PMID 28643795 DOI: 10.1038/Ncomms15816 |
0.335 |
|
| 2017 |
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, et al. A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. Investigative Ophthalmology & Visual Science. 58: 2774-2784. PMID 28549094 DOI: 10.1167/Iovs.16-21341 |
0.333 |
|
| 2017 |
Aggarwal A, Rodriguez-Buritica DF, Northrup H. Wiedemann-Steiner Syndrome: Novel pathogenic variant and review of literature. European Journal of Medical Genetics. PMID 28359930 DOI: 10.1016/J.Ejmg.2017.03.006 |
0.364 |
|
| 2017 |
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. American Journal of Medical Genetics. Part A. 173: 771-775. PMID 28211972 DOI: 10.1002/Ajmg.A.38083 |
0.366 |
|
| 2016 |
Shah RH, Northrup H, Hixson JE, Morrison AC, Au KS. Genetic association of the glycine cleavage system genes and myelomeningocele. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 27620832 DOI: 10.1002/Bdra.23552 |
0.44 |
|
| 2016 |
Nguyen MP, Lupo PJ, Northrup H, Morrison AC, Cirino PT, Au KS. Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 27384413 DOI: 10.1002/Bdra.23538 |
0.33 |
|
| 2016 |
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, et al. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27195816 DOI: 10.1038/Gim.2016.53 |
0.389 |
|
| 2016 |
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, ... ... Northrup H, et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. American Journal of Human Genetics. PMID 26805781 DOI: 10.1016/J.Ajhg.2015.12.008 |
0.346 |
|
| 2015 |
Farach LS, Northrup H. KIAA2022 nonsense mutation in a symptomatic female. American Journal of Medical Genetics. Part A. PMID 26576034 DOI: 10.1002/Ajmg.A.37479 |
0.309 |
|
| 2015 |
Ruggiero JE, Northrup H, Au KS. Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype. Birth Defects Research. Part a, Clinical and Molecular Teratology. 103: 479-87. PMID 25776730 DOI: 10.1002/Bdra.23358 |
0.376 |
|
| 2015 |
Soler-Alfonso C, Enns GM, Koenig MK, Saavedra H, Bonfante-Mejia E, Northrup H. Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. Pediatric Neurology. 52: 361-5. PMID 25591832 DOI: 10.1016/J.Pediatrneurol.2014.10.023 |
0.376 |
|
| 2015 |
Connealy BD, Northrup H, Au KS. Erratum: Genetic variations in the GLUT3 gene associated with myelomeningocele (American Journal of Obstetrics and Gynecology (2014) 211 (305e1-305e8)) American Journal of Obstetrics and Gynecology. 213. DOI: 10.1016/J.Ajog.2015.06.052 |
0.329 |
|
| 2014 |
Connealy BD, Northrup H, Au KS. Genetic variations in the GLUT3 gene associated with myelomeningocele. American Journal of Obstetrics and Gynecology. 211: 305.e1-8. PMID 24813597 DOI: 10.1016/J.Ajog.2014.05.013 |
0.393 |
|
| 2013 |
Kase BA, Northrup H, Au KS. Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele. American Journal of Obstetrics and Gynecology. 209: 388.e1-7. PMID 23792044 DOI: 10.1016/J.Ajog.2013.06.004 |
0.407 |
|
| 2013 |
Gabitzsch EK, Hashmi SS, Koenig MK, Raia MH, Whittemore VH, Northrup H, Nader S, Gambello MJ. Self-reported reproductive health in women with tuberous sclerosis complex. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 966-71. PMID 23660529 DOI: 10.1038/Gim.2013.60 |
0.307 |
|
| 2013 |
Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, et al. Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene. Human Molecular Genetics. 22: 1097-111. PMID 23223018 DOI: 10.1093/Hmg/Dds515 |
0.439 |
|
| 2013 |
Kase B, Northrup H, Au KS. 570: Novel single nucleotide polymorphisms in the superoxide dismutase 1 ( SOD1 ) and 2 ( SOD2 ) genes among patients with non-syndromic myelomeningocele American Journal of Obstetrics and Gynecology. 208: S244. DOI: 10.1016/J.Ajog.2012.10.736 |
0.42 |
|
| 2012 |
Spellicy CJ, Northrup H, Fletcher JM, Cirino PT, Dennis M, Morrison AC, Martinez CA, Au KS. Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients. Plos One. 7: e51330. PMID 23227261 DOI: 10.1371/Journal.Pone.0051330 |
0.341 |
|
| 2012 |
Kase BA, Northrup H, Morrison AC, Davidson CM, Goiffon AM, Fletcher JM, Ostermaier KK, Tyerman GH, Au KS. Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele. Birth Defects Research. Part a, Clinical and Molecular Teratology. 94: 762-9. PMID 22972774 DOI: 10.1002/Bdra.23065 |
0.465 |
|
| 2012 |
Aneji CN, Northrup H, Au KS. Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele. Birth Defects Research. Part a, Clinical and Molecular Teratology. 94: 84-90. PMID 22241680 DOI: 10.1002/Bdra.22884 |
0.475 |
|
| 2012 |
Tilley MM, Northrup H, Au KS. Genetic studies of the cystathionine beta-synthase gene and myelomeningocele. Birth Defects Research. Part a, Clinical and Molecular Teratology. 94: 52-6. PMID 21957013 DOI: 10.1002/Bdra.22855 |
0.43 |
|
| 2011 |
Niemi AK, Northrup H, Hudgins L, Bernstein JA. Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. American Journal of Medical Genetics. Part A. 155: 2534-7. PMID 21910228 DOI: 10.1002/Ajmg.A.34197 |
0.353 |
|
| 2011 |
Tran PX, Au KS, Morrison AC, Fletcher JM, Ostermaier KK, Tyerman GH, Northrup H. Association of retinoic acid receptor genes with meningomyelocele. Birth Defects Research. Part a, Clinical and Molecular Teratology. 91: 39-43. PMID 21254357 DOI: 10.1002/Bdra.20744 |
0.455 |
|
| 2011 |
Cormier CM, Au KS, Northrup H. A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele. Reproductive Sciences (Thousand Oaks, Calif.). 18: 463-8. PMID 21135204 DOI: 10.1177/1933719110388293 |
0.425 |
|
| 2010 |
O'Byrne MR, Au KS, Morrison AC, Lin JI, Fletcher JM, Ostermaier KK, Tyerman GH, Doebel S, Northrup H. Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele. Birth Defects Research. Part a, Clinical and Molecular Teratology. 88: 689-94. PMID 20683905 DOI: 10.1002/Bdra.20706 |
0.719 |
|
| 2010 |
Au KS, Ashley-Koch A, Northrup H. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Developmental Disabilities Research Reviews. 16: 6-15. PMID 20419766 DOI: 10.1002/Ddrr.93 |
0.429 |
|
| 2009 |
Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. American Journal of Obstetrics and Gynecology. 201: 394.e1-11. PMID 19683694 DOI: 10.1016/J.Ajog.2009.06.042 |
0.416 |
|
| 2009 |
Cormier C, Northrup H, Au KS. 711: Genetic variation in the GLUT1 gene of patients affected with meningomyelocele American Journal of Obstetrics and Gynecology. 201: S257. DOI: 10.1016/J.Ajog.2009.10.728 |
0.381 |
|
| 2008 |
Au KS, Ward CH, Northrup H. Tuberous sclerosis complex: disease modifiers and treatments. Current Opinion in Pediatrics. 20: 628-33. PMID 19005330 DOI: 10.1097/Mop.0B013E328318C529 |
0.367 |
|
| 2008 |
Au KS, Tran PX, Tsai CC, O'Byrne MR, Lin JI, Morrison AC, Hampson AW, Cirino P, Fletcher JM, Ostermaier KK, Tyerman GH, Doebel S, Northrup H. Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals. Birth Defects Research. Part a, Clinical and Molecular Teratology. 82: 692-700. PMID 18937358 DOI: 10.1002/Bdra.20499 |
0.711 |
|
| 2008 |
Davidson CM, Northrup H, King TM, Fletcher JM, Townsend I, Tyerman GH, Au KS. Genes in glucose metabolism and association with spina bifida. Reproductive Sciences (Thousand Oaks, Calif.). 15: 51-8. PMID 18212354 DOI: 10.1177/1933719107309590 |
0.406 |
|
| 2008 |
Martinez CA, Northrup H, Lin J, Morrison A, Fletcher JM, Tyerman G, Au KS. 575: Results of a genetic association study of genes in folate metabolism and spina bifida American Journal of Obstetrics and Gynecology. 199: S167. DOI: 10.1016/J.Ajog.2008.09.605 |
0.392 |
|
| 2007 |
King TM, Au KS, Kirkpatrick TJ, Davidson C, Fletcher JM, Townsend I, Tyerman GH, Shimmin LC, Northrup H. The impact of BRCA1 on spina bifida meningomyelocele lesions. Annals of Human Genetics. 71: 719-28. PMID 17640328 DOI: 10.1111/J.1469-1809.2007.00377.X |
0.396 |
|
| 2007 |
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 88-100. PMID 17304050 DOI: 10.1097/Gim.0B013E31803068C7 |
0.373 |
|
| 2007 |
Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Human Genetics. 121: 389-400. PMID 17287951 DOI: 10.1007/S00439-006-0308-9 |
0.324 |
|
| 2006 |
Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Investigative Ophthalmology & Visual Science. 47: 3052-64. PMID 16799052 DOI: 10.1167/Iovs.05-1443 |
0.328 |
|
| 2006 |
Woerner AC, Au KS, Williams AT, Harris PC, Northrup H. Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 197-8. PMID 16540757 DOI: 10.1097/01.Gim.0000204466.34876.D5 |
0.328 |
|
| 2006 |
Davidson C, Northrup H, King T, Fletcher J, Townsend I, Tyerman G, Au KS. Genes in glucose metabolism and their association with spina bifida American Journal of Obstetrics and Gynecology. 195: S14. DOI: 10.1016/J.Ajog.2006.10.039 |
0.322 |
|
| 2005 |
Au KS, Northrup H, Kirkpatrick TJ, Volcik KA, Fletcher JM, Townsend IT, Blanton SH, Tyerman GH, Villarreal G, King TM. Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele. American Journal of Medical Genetics. Part A. 139: 194-8. PMID 16283668 DOI: 10.1002/Ajmg.A.31002 |
0.383 |
|
| 2005 |
Eichmeyer JN, Northrup H, Assel MA, Goka TJ, Johnston DA, Williams AT. An assessment of risk understanding in Hispanic genetic counseling patients. Journal of Genetic Counseling. 14: 319-28. PMID 16047094 DOI: 10.1007/S10897-005-0759-5 |
0.345 |
|
| 2004 |
Au KS, Williams AT, Gambello MJ, Northrup H. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. Journal of Child Neurology. 19: 699-709. PMID 15563017 DOI: 10.1177/08830738040190091101 |
0.362 |
|
| 2004 |
Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nature Genetics. 36: 1053-5. PMID 15338008 DOI: 10.1038/Ng1420 |
0.372 |
|
| 2004 |
Fletcher JM, Dennis M, Northrup H, Barnes MA, Hannay HJ, Landry SH, Copeland K, Blaser SE, Kramer LA, Brandt ME, Francis DJ. Spina Bifida: Genes, Brain, and Development International Review of Research in Mental Retardation. 29: 63-117. DOI: 10.1016/S0074-7750(04)29003-6 |
0.339 |
|
| 2003 |
Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. Journal of Medical Genetics. 40: 42-4. PMID 12525541 DOI: 10.1136/Jmg.40.1.42 |
0.38 |
|
| 2002 |
Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H. Testing for genetic associations in a spina bifida population: Analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects American Journal of Medical Genetics. 110: 203-207. PMID 12116226 DOI: 10.1002/Ajmg.10435 |
0.424 |
|
| 2002 |
Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H. Testing for genetic associations with the PAX gene family in a spina bifida population American Journal of Medical Genetics. 110: 195-202. PMID 12116225 DOI: 10.1002/Ajmg.10434 |
0.463 |
|
| 2001 |
Volcik KA, Blanton SH, Northrup H, Donnelly JG, Isotalo PA. Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - And in utero viability [3] (multiple letters) American Journal of Human Genetics. 69: 1150-1153. PMID 11590551 DOI: 10.1086/324066 |
0.36 |
|
| 2001 |
Khare L, Strizheva GD, Bailey JN, Au KS, Northrup H, Smith M, Smalley SL, Henske EP. A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex [9] Journal of Medical Genetics. 38: 347-349. PMID 11403047 DOI: 10.1136/Jmg.38.5.347 |
0.351 |
|
| 2001 |
Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Human Mutation. 17: 42-51. PMID 11139241 DOI: 10.1002/1098-1004(2001)17:1<42::Aid-Humu5>3.0.Co;2-K |
0.34 |
|
| 2000 |
Northrup H, Volcik KA. Spina bifida and other neural tube defects Current Problems in Pediatrics. 30: 317-332. PMID 11147289 DOI: 10.1067/Mpp.2000.112052 |
0.371 |
|
| 2000 |
Volcik KA, Blanton SH, Tyerman GH, Jong ST, Rott EJ, Page TZ, Romaine NK, Northrup H. Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in hispanics American Journal of Medical Genetics. 95: 21-27. PMID 11074490 DOI: 10.1002/1096-8628(20001106)95:1<21::Aid-Ajmg6>3.0.Co;2-M |
0.361 |
|
| 2000 |
Astrinidis A, Khare L, Carsillo T, Smolarek T, Au KS, Northrup H, Henske EP. Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis Journal of Medical Genetics. 37: 55-57. PMID 10633137 DOI: 10.1136/Jmg.37.1.55 |
0.334 |
|
| 1999 |
Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation Journal of Child Neurology. 14: 401-407. PMID 10385849 DOI: 10.1177/088307389901400610 |
0.308 |
|
| 1999 |
Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H. Germ-line mosaicism in tuberous sclerosis: How common? American Journal of Human Genetics. 64: 986-992. PMID 10090883 DOI: 10.1086/302322 |
0.35 |
|
| 1998 |
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. Journal of Child Neurology. 13: 624-8. PMID 9881533 DOI: 10.1177/088307389801301206 |
0.309 |
|
| 1998 |
Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Human Mutation. 12: 408-16. PMID 9829910 DOI: 10.1002/(Sici)1098-1004(1998)12:6<408::Aid-Humu7>3.0.Co;2-P |
0.343 |
|
| 1998 |
Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E, Northrup H. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients American Journal of Human Genetics. 62: 286-294. PMID 9463313 DOI: 10.1086/301705 |
0.362 |
|
| 1997 |
Rodriguez JA, Evans RL, Daiger SP, Northrup H. Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC). Journal of Medical Genetics. 34: 509-11. PMID 9192275 DOI: 10.1136/Jmg.34.6.509 |
0.327 |
|
| 1997 |
Au KS, Rodriguez JA, Rodriguez E, Dobyns WB, Delgado MR, Northrup H. Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16 Human Mutation. 9: 23-29. PMID 8990004 DOI: 10.1002/(Sici)1098-1004(1997)9:1<23::Aid-Humu4>3.0.Co;2-Q |
0.428 |
|
| 1996 |
Au KS, Murrell J, Buckler A, Blanton SH, Northrup H. Report of a critical recombination further narrowing the TSC1 region Journal of Medical Genetics. 33: 559-561. PMID 8818940 DOI: 10.1136/Jmg.33.7.559 |
0.367 |
|
| 1996 |
Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Cobblestone lissencephaly with normal eyes and muscle Neuropediatrics. 27: 70-75. PMID 8737821 DOI: 10.1055/S-2007-973752 |
0.31 |
|
| 1995 |
Mastrobattista JM, Dollé P, Blanton SH, Northrup H. Evaluation of candidate genes for familial brachydactyly Journal of Medical Genetics. 32: 851-854. PMID 8592325 DOI: 10.1136/Jmg.32.11.851 |
0.353 |
|
| 1995 |
Greenspan DS, Northrup H, Au KS, McAllister KA, Francomano CA, Wenstrup RJ, Marchuk DA, Kwiatkowski DJ. COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II Genomics. 25: 737-739. PMID 7759113 DOI: 10.1016/0888-7543(95)80021-D |
0.375 |
|
| 1993 |
Northrup H, Wheless JW, Bertin TK, Lewis RA. Variability of expression in tuberous sclerosis Journal of Medical Genetics. 30: 41-43. PMID 8423606 DOI: 10.1136/Jmg.30.1.41 |
0.307 |
|
| 1992 |
Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP, Dumars K, Roach ES, Steingold S, Wall S. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nature Genetics. 2: 37-41. PMID 1303246 DOI: 10.1038/Ng0992-37 |
0.317 |
|
| 1992 |
Northrup H. Tuberous sclerosis complex: Genetic aspects Journal of Dermatology. 19: 914-919. PMID 1293183 DOI: 10.1111/J.1346-8138.1992.Tb03805.X |
0.351 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2019 |
Prohl AK, Scherrer B, Tomas-Fernandez X, Davis PE, Filip-Dhima R, Prabhu SP, Peters JM, Bebin EM, Krueger DA, Northrup H, Wu JY, Sahin M, Warfield SK. Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder. Journal of Neurodevelopmental Disorders. 11: 36. PMID 31838998 DOI: 10.1186/S11689-019-9293-X |
0.298 |
|
| 1999 |
Au KS, Hebert AA, Roach ES, Northrup H. Complete inactivation of the TSC2 gene leads to formation of hamartomas [6] American Journal of Human Genetics. 65: 1790-1795. PMID 10577937 DOI: 10.1086/302648 |
0.296 |
|
| 1995 |
Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FFB, Chinault C, Horsthemke B, Wagner MJ, Wells DE. A 4-Megabase YAC Contig That Spans the Langer-Giedion Syndrome Region on Human Chromosome 8q24.1: Use in Refining the Location of the Trichorhinophalangeal Syndrome and Multiple Exostoses Genes (TRPS1 and EXT1) Genomics. 29: 87-97. PMID 8530105 DOI: 10.1006/Geno.1995.1218 |
0.293 |
|
| 2019 |
Williams ME, Pearson DA, Capal JK, Byars AW, Murray DS, Kissinger R, O'Kelley SE, Hanson E, Bing NM, Kent B, Wu JY, Northrup H, Bebin EM, Sahin M, Krueger D, et al. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. The American Psychologist. 74: 356-367. PMID 30945897 DOI: 10.1037/Amp0000436 |
0.291 |
|
| 2020 |
Oluwafemi OO, Benjamin RH, Navarro Sanchez ML, Scheuerle AE, Schaaf CP, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scott DA, Northrup H, Ray JW, McLean SD, Ludorf KL, Chen H, et al. Birth defects that co-occur with non-syndromic gastroschisis and omphalocele. American Journal of Medical Genetics. Part A. PMID 32885608 DOI: 10.1002/Ajmg.A.61830 |
0.285 |
|
| 2011 |
Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, Northrup H. Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clinical Endocrinology. 74: 312-8. PMID 21050253 DOI: 10.1111/J.1365-2265.2010.03919.X |
0.284 |
|
| 1997 |
Baumgartner JE, Wheless JW, Kulkarni S, Northrup H, Au KS, Smith A, Brookshire B. On the surgical treatment of refractory epilepsy in tuberous sclerosis complex Pediatric Neurosurgery. 27: 311-318. PMID 9655146 DOI: 10.1159/000121276 |
0.281 |
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| 2015 |
Nguyen J, Lemons J, Crandell S, Northrup H. Efficacy of a medical genetics rotation during pediatric training. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25973883 DOI: 10.1038/Gim.2015.65 |
0.281 |
|
| 2023 |
Farach LS, Northrup H, Nellist M, van Unen L, Hillman P, Klonowska K, Ekong R, Crino PB, Sing Au K. Mild TSC Phenotype and Non-Penetrance Associated with a Frameshift Variant in TSC2 Prompts Caution in Evaluating Pathogenicity of Frameshift Variants. Gene. 147566. PMID 37311496 DOI: 10.1016/j.gene.2023.147566 |
0.28 |
|
| 2013 |
Krueger DA, Northrup H. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 49: 255-65. PMID 24053983 DOI: 10.1016/J.Pediatrneurol.2013.08.002 |
0.279 |
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| 2006 |
Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM. Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA. Pediatric Research. 59: 590-2. PMID 16549535 DOI: 10.1203/01.Pdr.0000203092.83074.Eb |
0.276 |
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| 2017 |
Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, Bebin EM, Wu JY, Krueger D, Sahin M. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. PMID 29101226 DOI: 10.1542/Peds.2016-4040 |
0.273 |
|
| 1996 |
McKenney RR, Elder FFB, Garcia J, Northrup H. Brachmann-de Lange syndrome: Autosomal dominant inheritance and male- to-male transmission American Journal of Medical Genetics. 66: 449-452. PMID 8989466 DOI: 10.1002/(Sici)1096-8628(19961230)66:4<449::Aid-Ajmg13>3.0.Co;2-U |
0.272 |
|
| 2019 |
Mowrey KE, Ashfaq M, Pearson DA, Hashmi SS, Roberds SL, Farach LS, Northrup H. The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment. Pediatric Neurology. 91: 41-49. PMID 30527288 DOI: 10.1016/J.Pediatrneurol.2018.10.011 |
0.272 |
|
| 2008 |
Koenig MK, Butler IJ, Northrup H. Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. Journal of Child Neurology. 23: 1238-9. PMID 18952591 DOI: 10.1177/0883073808321764 |
0.27 |
|
| 2019 |
Ahtam B, Dehaes M, Sliva DD, Peters JM, Krueger DA, Bebin EM, Northrup H, Wu JY, Warfield SK, Sahin M, Grant PE. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. PMID 31304656 DOI: 10.1111/Jon.12653 |
0.267 |
|
| 2013 |
Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 49: 243-54. PMID 24053982 DOI: 10.1016/J.Pediatrneurol.2013.08.001 |
0.265 |
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| 2019 |
Cook IA, Wilson AC, Peters JM, Goyal MN, Bebin EM, Northrup H, Krueger D, Leuchter AF, Sahin M. EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex. Journal of Autism and Developmental Disorders. PMID 31811616 DOI: 10.1007/S10803-019-04326-0 |
0.265 |
|
| 2019 |
Schoenberger A, Capal JK, Ondracek A, Horn PS, Murray D, Byars AW, Pearson DA, Williams ME, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA. Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex. Epilepsy & Behavior : E&B. 106844. PMID 31864941 DOI: 10.1016/J.Yebeh.2019.106844 |
0.264 |
|
| 1992 |
Kitagawa S, Gleason WA, Northrup H, Middlebrook MR, Ueberschar E. Symptomatic hyperammonemia caused by a congenital portosystemic shunt The Journal of Pediatrics. 121: 917-919. PMID 1447656 DOI: 10.1016/S0022-3476(05)80341-5 |
0.262 |
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| 2016 |
Rosnau K, Hashmi SS, Northrup H, Slopis J, Noblin S, Ashfaq M. Knowledge and Self-Esteem of Individuals with Neurofibromatosis Type 1 (NF1). Journal of Genetic Counseling. PMID 27815662 DOI: 10.1007/S10897-016-0036-9 |
0.26 |
|
| 2011 |
Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, ... ... Northrup H, et al. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 146: 889-903. PMID 21925314 DOI: 10.1016/J.Cell.2011.07.042 |
0.259 |
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| 2012 |
Koenig MK, Hebert AA, Roberson J, Samuels J, Slopis J, Woerner A, Northrup H. Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin. Drugs in R&D. 12: 121-6. PMID 22934754 DOI: 10.2165/11634580-000000000-00000 |
0.258 |
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| 2018 |
Koenig MK, Bell CS, Hebert AA, Roberson J, Samuels JA, Slopis JM, Tate P, Northrup H. Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial. Jama Dermatology. PMID 29800048 DOI: 10.1001/Jamadermatol.2018.0464 |
0.257 |
|
| 2022 |
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, ... ... Northrup H, et al. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35579625 DOI: 10.1016/j.gim.2022.04.010 |
0.255 |
|
| 2019 |
Davis PE, Kapur K, Filip-Dhima R, Trowbridge SK, Little E, Wilson A, Leuchter A, Bebin EM, Krueger D, Northrup H, Wu JY, Sahin M, Peters JM. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex. Epilepsia. PMID 31297797 DOI: 10.1111/Epi.16284 |
0.255 |
|
| 2020 |
Hebert L, Hillman P, Baker C, Brown M, Ashley-Koch A, Hixson JE, Morrison AC, Northrup H, Au KS. Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients. Plos One. 15: e0239083. PMID 32970752 DOI: 10.1371/journal.pone.0239083 |
0.251 |
|
| 2019 |
Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, et al. Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. Birth Defects Research. PMID 31313535 DOI: 10.1002/Bdr2.1549 |
0.249 |
|
| 2019 |
Prohl AK, Scherrer B, Tomas-Fernandez X, Filip-Dhima R, Kapur K, Velasco-Annis C, Clancy S, Carmody E, Dean M, Valle M, Prabhu SP, Peters JM, Bebin EM, Krueger DA, Northrup H, et al. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. Frontiers in Integrative Neuroscience. 13: 24. PMID 31417372 DOI: 10.3389/Fnint.2019.00024 |
0.248 |
|
| 2015 |
Wu JY, Peters JM, Goyal M, Krueger D, Sahin M, Northrup H, Au KS, Cutter G, Bebin EM. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatric Neurology. PMID 26498039 DOI: 10.1016/J.Pediatrneurol.2015.09.013 |
0.244 |
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| 2003 |
Plotner PL, Smith JL, Northrup H. Deletion 12q: a second patient with 12q24.31q24.32 deletion. American Journal of Medical Genetics. Part A. 118: 350-2. PMID 12687666 DOI: 10.1002/Ajmg.A.10232 |
0.242 |
|
| 2010 |
Ready KJ, Daniels MS, Sun CC, Peterson SK, Northrup H, Lu KH. Obstetrics/gynecology residents' knowledge of hereditary breast and ovarian cancer and Lynch syndrome. Journal of Cancer Education : the Official Journal of the American Association For Cancer Education. 25: 401-4. PMID 20186516 DOI: 10.1007/S13187-010-0063-4 |
0.242 |
|
| 2015 |
Soler-Alfonso C, Enns GM, Koenig MK, Saavedra H, Bonfante-Mejia E, Northrup H. Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: A gene involved in valine metabolism Pediatric Neurology. 52: 361-365. DOI: 10.1016/j.pediatrneurol.2014.10.023 |
0.241 |
|
| 2016 |
Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA, Kawasaki H, Feldstein NA, ... ... Northrup H, et al. Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors. Human Molecular Genetics. PMID 27516388 DOI: 10.1093/Hmg/Ddw253 |
0.24 |
|
| 2005 |
Fletcher JM, Copeland K, Frederick JA, Blaser SE, Kramer LA, Northrup H, Hannay HJ, Brandt ME, Francis DJ, Villarreal G, Drake JM, Laurent JP, Townsend I, Inwood S, Boudousquie A, et al. Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. Journal of Neurosurgery. 102: 268-79. PMID 15881750 DOI: 10.3171/Ped.2005.102.3.0268 |
0.24 |
|
| 2018 |
Peron A, Northrup H. Tuberous sclerosis complex. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 30325570 DOI: 10.1002/Ajmg.C.31657 |
0.238 |
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| 2018 |
Bernardo D, Nariai H, Hussain SA, Sankar R, Salamon N, Krueger DA, Sahin M, Northrup H, Bebin EM, Wu JY. Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. PMID 29673547 DOI: 10.1016/J.Clinph.2018.03.010 |
0.238 |
|
| 2021 |
Cohen AL, Mulder BP, Prohl AK, Soussand L, Davis P, Kroeck MR, McManus P, Gholipour A, Scherrer B, Bebin EM, Wu JY, Northrup H, Krueger DA, Sahin M, Warfield SK, et al. Tuber locations associated with infantile spasms map to a common brain network. Annals of Neurology. PMID 33410532 DOI: 10.1002/ana.26015 |
0.234 |
|
| 1991 |
Northrup H, Blanton SH. Linkage studies for markers on 9q to tuberous sclerosis Annals of the New York Academy of Sciences. 615: 384-385. PMID 1674847 DOI: 10.1111/J.1749-6632.1991.Tb37790.X |
0.234 |
|
| 2002 |
Strecker MN, Williams AJ, Bondy M, Johnston DA, Northrup H. Knowledge and attitudes of Hispanic women and their health care providers about breast cancer risk factors and screening. Community Genetics. 5: 222-31. PMID 14960876 DOI: 10.1159/000066685 |
0.234 |
|
| 2017 |
Wagner VF, Northrup H, Hashmi SS, Nguyen JM, Koenig MK, Davis JM. Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies. Journal of Genetic Counseling. PMID 28803392 DOI: 10.1007/S10897-017-0137-0 |
0.233 |
|
| 1993 |
Northrup H, Sigman ES, Hebert AA. Exfoliative Erythroderma Resulting From Inadequate Intake of Branched-Chain Amino Acids in Infants With Maple Syrup Urine Disease Archives of Dermatology. 129: 384-385. PMID 8447687 DOI: 10.1001/Archderm.1993.01680240130027 |
0.232 |
|
| 2018 |
Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, et al. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30546086 DOI: 10.1038/S41436-018-0403-Z |
0.23 |
|
| 2002 |
Plotner PL, Smith JL, Northrup H. Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature. American Journal of Medical Genetics. 111: 71-5. PMID 12124739 DOI: 10.1002/Ajmg.10420 |
0.229 |
|
| 2018 |
DarConte M, Dunnington L, Northrup H, Hebert A. Dermatologic manifestations of PTEN hamartoma tumor syndrome in a 4-year-old child Journal of the American Academy of Dermatology. 79. DOI: 10.1016/J.Jaad.2018.05.440 |
0.226 |
|
| 1993 |
Northrup H. Recessive inheritance of von Willebrand's disease type I The Journal of Pediatrics. 123: 832. DOI: 10.1016/S0022-3476(05)80873-X |
0.226 |
|
| 2007 |
Lim SD, Stallcup W, Lefkove B, Govindarajan B, Au KS, Northrup H, Lang D, Fisher DE, Patel A, Amin MB, Arbiser JL. Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells? Molecular Medicine (Cambridge, Mass.). 13: 160-5. PMID 17592550 DOI: 10.2119/2006-00070.Lim |
0.225 |
|
| 2001 |
Arbiser JL, Yeung R, Weiss SW, Arbiser ZK, Amin MB, Cohen C, Frank D, Mahajan S, Herron GS, Yang J, Onda H, Zhang HB, Bai X, Uhlmann E, Loehr A, ... Northrup H, et al. The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: Use of telomerase to obtain stable populations of cells from benign neoplasms American Journal of Pathology. 159: 483-491. PMID 11485907 DOI: 10.1016/S0002-9440(10)61720-8 |
0.223 |
|
| 2018 |
Chung P, Northrup H, Azmath M, Mosquera RA, Moody S, Yadav A. Glycyl tRNA Synthetase () Gene Variant Causes Distal Hereditary Motor Neuropathy V. Case Reports in Pediatrics. 2018: 8516285. PMID 29527379 DOI: 10.1155/2018/8516285 |
0.223 |
|
| 2019 |
Wu JY, Goyal M, Peters JM, Krueger D, Sahin M, Northrup H, Au KS, O'Kelley S, Williams M, Pearson DA, Hanson E, Byars AW, Krefting J, Beasley M, Cutter G, et al. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. PMID 31691264 DOI: 10.1111/Epi.16379 |
0.222 |
|
| 2009 |
Wells AS, Northrup H, Crandell SS, King TM, Champaigne NL, Yafi M, Therrell BL, Noblin SJ. Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 163-8. PMID 19367189 DOI: 10.1097/Gim.0B013E3181930787 |
0.222 |
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| 2022 |
Lopez Martinolich M, Northrup H, Mancias P, Hillman P, Rao K, Mowrey K. Identification of a novel microdeletion causative of Nance-Horan syndrome. Molecular Genetics & Genomic Medicine. e1879. PMID 35122698 DOI: 10.1002/mgg3.1879 |
0.222 |
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| 2024 |
Richard MA, Lupo PJ, Ehli EA, Sahin M, Krueger DA, Wu JY, Bebin EM, Au KS, Northrup H, Farach LS. Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex. American Journal of Medical Genetics. Part A. PMID 38366765 DOI: 10.1002/ajmg.a.63569 |
0.221 |
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| 2020 |
Sánchez Fernández I, Yang E, Calvachi P, Amengual-Gual M, Wu JY, Krueger D, Northrup H, Bebin ME, Sahin M, Yu KH, Peters JM. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. Plos One. 15: e0232376. PMID 32348367 DOI: 10.1371/Journal.Pone.0232376 |
0.221 |
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| 2019 |
Hausmann O, Daha M, Longo N, Knol E, Müller I, Northrup H, Brockow K. Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy. Molecular Genetics and Metabolism. PMID 31375398 DOI: 10.1016/J.Ymgme.2019.05.006 |
0.22 |
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| 2002 |
Yetman RJ, Andrew-Casal M, Hermida RC, Dominguez BW, Portman RJ, Northrup H, Smolensky MH. Circadian pattern of blood pressure, heart rate, and double product in liver glycogen storage disease. Chronobiology International. 19: 765-83. PMID 12182502 DOI: 10.1081/Cbi-120006081 |
0.217 |
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| 2004 |
Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly Journal of Medical Genetics. 41. PMID 15121784 DOI: 10.1136/Jmg.2003.012880 |
0.217 |
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| 2023 |
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, et al. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. American Journal of Human Genetics. PMID 37071997 DOI: 10.1016/j.ajhg.2023.03.016 |
0.216 |
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| 2018 |
Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, ... Northrup H, et al. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Molecular Genetics and Metabolism. PMID 29653686 DOI: 10.1016/J.Ymgme.2018.03.006 |
0.211 |
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| 2024 |
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, ... ... Northrup H, ... ... Northrup H, et al. Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science (New York, N.Y.). 384: 584-590. PMID 38696583 DOI: 10.1126/science.adl1624 |
0.21 |
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| 2018 |
Slopis JM, Arevalo O, Bell CS, Hebert AA, Northrup H, Riascos RF, Samuels JA, Smith KC, Tate P, Koenig MK. Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial. Drugs in R&D. PMID 30284154 DOI: 10.1007/S40268-018-0248-6 |
0.205 |
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| 2018 |
Sagaser KG, Stevens B, Davis J, Northrup H, Ramdaney A. Close but not quite: two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening. Prenatal Diagnosis. PMID 29644704 DOI: 10.1002/Pd.5264 |
0.203 |
|
| 1992 |
Northrup H. Book Review: Inborn Errors of Metabolism (Nestlé Nutrition Workshop Series, Volume 24), edited by Jürgen Schaub, François Van Hoof, and Henri L. Vis. Published in 1991 by Nestec and Raven Press, Vevey, Switzerland, and New York, 318 pages, $62.00 Journal of Child Neurology. 7: 230-230. DOI: 10.1177/088307389200700223 |
0.198 |
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| 1989 |
Northrup H, Lathrop M, Lu SY, Daiger SP, Beaudet AL, O'Brien WE. Multilocus linkage analysis with the human argininosuccinate synthetase gene. Genomics. 5: 442-4. PMID 2575581 DOI: 10.1016/0888-7543(89)90007-4 |
0.197 |
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| 2010 |
Au KS, Northrup H. Genotype-Phenotype Studies in TSC and Molecular Diagnostics Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. 61-84. DOI: 10.1002/9783527630073.ch5 |
0.185 |
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| 1997 |
Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. American Journal of Human Genetics. 61: 642-50. PMID 9326330 DOI: 10.1086/515520 |
0.185 |
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| 2014 |
Northrup H. The mTOR inhibitor revolution rolls on. The Lancet. Oncology. 15: 1418-9. PMID 25456358 DOI: 10.1016/S1470-2045(14)71101-5 |
0.184 |
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| 2002 |
Urdaneta ML, Livingston J, Aguilar M, Suther S, Enciso V, Kaye CI, Northrup H, Oliveira MLCd, Fernandes MJ, Braga MJ, Albuquerque RMd, Gomes LNLF, Correia PS, Fernandes AR, Berditchevsky CR, et al. Subject Index Vol. 5, 2002 Public Health Genomics. 5: 268. DOI: 10.1159/000068109 |
0.184 |
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| 1997 |
Jackson PS, Madsen J, Madsen JR, Gruber DP, Crone KR, Razzaq AA, Cohen AR, Chabrerie A, Ozlen F, Nakajima S, Leventon ME, Atsumi H, Grimson E, Keeve E, Helmers S, ... ... Northrup H, et al. Subject Index Vol. 27, 1997 Pediatric Neurosurgery. 27: 330-330. DOI: 10.1159/000121280 |
0.184 |
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| 2021 |
Findley TO, Northrup H. The current state of prenatal detection of genetic conditions in congenital heart defects. Translational Pediatrics. 10: 2157-2170. PMID 34584888 DOI: 10.21037/tp-20-315 |
0.183 |
|
| 2021 |
Mowrey K, Northrup H, Rougeau P, Hashmi SS, Krueger DA, Ebrahimi-Fakhari D, Towbin AJ, Trout AT, Capal JK, Franz DN, Rodriguez-Buritica D. Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports. Frontiers in Neurology. 12: 627672. PMID 33897589 DOI: 10.3389/fneur.2021.627672 |
0.173 |
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| 2022 |
Langley E, Farach LS, Koenig MK, Northrup H, Rodriguez-Buritica DF, Mowrey K. NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent. American Journal of Medical Genetics. Part A. PMID 35146903 DOI: 10.1002/ajmg.a.62686 |
0.168 |
|
| 2002 |
Urdaneta ML, Livingston J, Aguilar M, Suther S, Enciso V, Kaye CI, Northrup H, Oliveira MLCd, Fernandes MJ, Braga MJ, Albuquerque RMd, Gomes LNLF, Correia PS, Fernandes AR, Berditchevsky CR, et al. Contents Vol. 5, 2002 Public Health Genomics. 5: 269-270. DOI: 10.1159/000068110 |
0.164 |
|
| 1997 |
Jackson PS, Madsen J, Madsen JR, Gruber DP, Crone KR, Razzaq AA, Cohen AR, Chabrerie A, Ozlen F, Nakajima S, Leventon ME, Atsumi H, Grimson E, Keeve E, Helmers S, ... ... Northrup H, et al. Contents, Vol. 27, 1997 Pediatric Neurosurgery. 27. DOI: 10.1159/000121270 |
0.164 |
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| 2020 |
Brown HM, Murray SA, Northrup H, Au KS, Niswander LA. is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signaling. Development (Cambridge, England). 147. PMID 33214242 DOI: 10.1242/dev.192518 |
0.163 |
|
| 2005 |
Tangjitgamol S, Erlichman J, Northrup H, Malpica A, Wang X, Lee E, Kavanagh JJ. Benign multicystic peritoneal mesothelioma: cases reports in the family with diverticulosis and literature review. International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society. 15: 1101-7. PMID 16343188 DOI: 10.1111/j.1525-1438.2005.00198.x |
0.163 |
|
| 2022 |
Cohen AL, Kroeck MR, Wall J, McManus P, Ovchinnikova A, Sahin M, Krueger DA, Bebin EM, Northrup H, Wu JY, Warfield SK, Peters JM, Fox MD. Tubers affecting the fusiform face area are associated with autism diagnosis. Annals of Neurology. PMID 36394118 DOI: 10.1002/ana.26551 |
0.159 |
|
| 1990 |
Northrup H, Beaudet AL, O'Brien WE. Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis. Prenatal Diagnosis. 10: 771-9. PMID 2075179 DOI: 10.1002/pd.1970101203 |
0.154 |
|
| 2022 |
Schraw JM, Benjamin RH, Shumate CJ, Canfield MA, Scott DA, McLean SD, Northrup H, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Agopian AJ, Lupo PJ. Patterns of co-occurring birth defects in children with anotia and microtia. American Journal of Medical Genetics. Part A. PMID 36541232 DOI: 10.1002/ajmg.a.63081 |
0.151 |
|
| 2021 |
Frigeni M, Rodriguez-Buritica DF, Saavedra H, Gunther KA, Hillman PR, Balaguru D, Northrup H. The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report. American Journal of Medical Genetics. Part A. PMID 34472180 DOI: 10.1002/ajmg.a.62469 |
0.151 |
|
| 2021 |
Diaz D, Benjamin RH, Navarro Sanchez ML, Mitchell LE, Langlois PH, Canfield MA, Chen H, Scheuerle AE, Schaaf CP, Scott DA, Northrup H, Ray JW, McLean SD, Swartz MD, Ludorf KL, et al. Patterns of congenital anomalies among individuals with trisomy 13 in Texas. American Journal of Medical Genetics. Part A. PMID 33749998 DOI: 10.1002/ajmg.a.62175 |
0.15 |
|
| 1992 |
Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E, Daiger SP, Blanton SH. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. American Journal of Human Genetics. 51: 709-20. PMID 1415216 |
0.143 |
|
| 2021 |
Capal JK, Williams ME, Pearson DA, Kissinger R, Horn PS, Murray D, Currans K, Kent B, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA. Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a longitudinal, prospective, multi-site study. Annals of Neurology. PMID 34668231 DOI: 10.1002/ana.26249 |
0.139 |
|
| 2024 |
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, ... ... Northrup H, et al. Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy. Medrxiv : the Preprint Server For Health Sciences. PMID 38352438 DOI: 10.1101/2022.08.23.22278845 |
0.139 |
|
| 2024 |
Luo H, Lao L, Au KS, Northrup H, He X, Forget D, Gauthier MS, Coulombe B, Bourdeau I, Shi W, Gagliardi L, Fragoso MCBV, Peng J, Wu J. ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans. Genome Biology. 25: 19. PMID 38225631 DOI: 10.1186/s13059-023-03147-w |
0.138 |
|
| 2023 |
Levine A, Davis P, Zhang B, Peters J, Filip-Dhima R, Warfield SK, Prohl A, Capal J, Krueger D, Bebin EM, Northrup H, Wu JY, Sahin M. Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex. Pediatric Neurology. 144: 26-32. PMID 37119787 DOI: 10.1016/j.pediatrneurol.2023.03.015 |
0.133 |
|
| 1989 |
Northrup H, Rosenbloom C, O'Brien WE, Beaudet AL. Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification. Nucleic Acids Research. 17: 1784. PMID 2564190 DOI: 10.1093/nar/17.4.1784 |
0.133 |
|
| 2023 |
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, ... ... Northrup H, et al. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 25: 100004. PMID 36745127 DOI: 10.1016/j.gim.2022.100004 |
0.132 |
|
| 2021 |
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatric Neurology. 123: 50-66. PMID 34399110 DOI: 10.1016/j.pediatrneurol.2021.07.011 |
0.131 |
|
| 2020 |
Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, Northrup H, Langlois PH, Canfield MA, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Swartz MD, Mitchell LE, et al. A COMPREHENSIVE ASSESSMENT OF CO-OCCURRING BIRTH DEFECTS AMONG INFANTS WITH NON-SYNDROMIC ANOPHTHALMIA OR MICROPHTHALMIA. Ophthalmic Epidemiology. 1-8. PMID 33345678 DOI: 10.1080/09286586.2020.1862244 |
0.129 |
|
| 1988 |
Martin AO, Northrup H, Ledbetter DH, Trask B, van den Engh G, Le Beau MM, Beaudet AL, Gray JW, Sekhon G, Krassikoff N. Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis. American Journal of Medical Genetics. 31: 643-54. PMID 3228143 DOI: 10.1002/Ajmg.1320310320 |
0.128 |
|
| 2023 |
Mills SL, Roberts P, Ashfaq M, Leal K, Northrup H, Brown DL, Rodriguez-Buritica D, Farach LS. Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin. Jimd Reports. 64: 434-439. PMID 37927486 DOI: 10.1002/jmd2.12397 |
0.122 |
|
| 2024 |
Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas JA, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK. Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program. Molecular Genetics and Metabolism Reports. 39: 101084. PMID 38694233 DOI: 10.1016/j.ymgmr.2024.101084 |
0.12 |
|
| 2021 |
Benjamin RH, Scheuerle AE, Scott DA, Navarro Sanchez ML, Langlois PH, Canfield MA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Birth defect co-occurrence patterns in the Texas Birth Defects Registry. Pediatric Research. PMID 34193968 DOI: 10.1038/s41390-021-01629-w |
0.114 |
|
| 1988 |
Greenberg F, Elder FFB, Haffner P, Northrup H, Ledbetter DH. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly American Journal of Human Genetics. 43: 605-611. PMID 3189331 |
0.11 |
|
| 2021 |
Sanchez MLN, Benjamin RH, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Lupo PJ, Agopian AJ. Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate. The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association. 10556656211010060. PMID 33906455 DOI: 10.1177/10556656211010060 |
0.109 |
|
| 2021 |
Ashfaq M, Moats AR, Northrup H, Singletary CN, Hashmi SS, Koenig MK, Bagg MB, Rodriguez-Buritica D. Hypoglycemia in Mitochondrial Disorders. Mitochondrion. PMID 33737013 DOI: 10.1016/j.mito.2021.03.002 |
0.105 |
|
| 2023 |
Bebin EM, Peters JM, Porter BE, McPherson TO, O'Kelley S, Sahin M, Taub KS, Rajaraman R, Randle SC, McClintock WM, Koenig MK, Frost MD, Northrup HA, Werner K, Nolan DA, et al. Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial. Annals of Neurology. PMID 37638552 DOI: 10.1002/ana.26778 |
0.092 |
|
| 2021 |
Ihnen SKZ, Capal JK, Horn PS, Griffith M, Sahin M, Bebin EM, Wu JY, Northrup H, Krueger DA. Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex. Pediatric Neurology. 123: 1-9. PMID 34343869 DOI: 10.1016/j.pediatrneurol.2021.06.012 |
0.091 |
|
| 2020 |
Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, et al. Patterns of co-occurring birth defects among infants with hypospadias. Journal of Pediatric Urology. PMID 33281045 DOI: 10.1016/j.jpurol.2020.11.015 |
0.088 |
|
| 1986 |
Maddock MB, Northrup H, Ellingham TJ. Induction of sister-chromatid exchanges and chromosomal aberrations in hematopoietic tissue of a marine fish following in vivo exposure to genotoxic carcinogens Mutation Research/Genetic Toxicology. 172: 165-175. PMID 3762573 DOI: 10.1016/0165-1218(86)90072-8 |
0.083 |
|
| 2022 |
Mowrey K, Northrup H, Hashmi SS, Rodriguez-Buritica D. Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex. Frontiers in Reproductive Health. 4: 798983. PMID 36303615 DOI: 10.3389/frph.2022.798983 |
0.083 |
|
| 2022 |
Nijman M, Yang E, Jaimes C, Prohl AK, Sahin M, Krueger DA, Wu JY, Northrup H, Stone SSD, Madsen JR, Fallah A, Blount JP, Weiner HL, Grayson L, Bebin EM, et al. Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis. Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. PMID 35729081 DOI: 10.1111/jon.13016 |
0.082 |
|
| 1987 |
Northrup H, Beaudet AL, O'Brien WE, Herman GE, Lewis RA, Pollack MS. Linkage of tuberous sclerosis to ABO blood group. Lancet. 2: 804-5. PMID 2889024 DOI: 10.1016/S0140-6736(87)92543-8 |
0.078 |
|
| 2020 |
Grayson LE, Peters JM, McPherson T, Krueger DA, Sahin M, Wu JY, Northrup HA, Porter B, Cutter GR, O'Kelley SE, Krefting J, Stone SS, Madsen JR, Fallah A, Blount JP, et al. Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex. Pediatric Neurology. PMID 32418847 DOI: 10.1016/J.Pediatrneurol.2020.04.002 |
0.076 |
|
| 1994 |
Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Falk C, Goudie D, Gusella J, Haines J, Armour JAL, Jeffreys AJ, Kwiatkowski D, Lathrop M, Matise T, ... Northrup H, et al. CEPH Consortium Map of Chromosome 9 Genomics. 19: 203-214. PMID 8188250 DOI: 10.1006/Geno.1994.1049 |
0.07 |
|
| 1990 |
Fujimura FK, Northrup H, Beaudet AL, O'Brien WE. Genotyping errors with the polymerase chain reaction. The New England Journal of Medicine. 322: 61. PMID 2294422 DOI: 10.1056/NEJM199001043220117 |
0.065 |
|
| 2018 |
Charupanit K, Nunez MD, Bernardo D, Bebin M, Krueger DA, Northrup H, Sahin M, Wu JY, Lopour BA. Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram. Conference Proceedings : ... Annual International Conference of the Ieee Engineering in Medicine and Biology Society. Ieee Engineering in Medicine and Biology Society. Annual Conference. 2018: 3116-3119. PMID 30441054 DOI: 10.1109/EMBC.2018.8513033 |
0.059 |
|
| 2001 |
Northrup H. Neurogenetics (Contemporary Neurology Series, No. 57) Archives of Neurology. 58: 828-a-829. DOI: 10.1001/archneur.58.5.828-a |
0.058 |
|
| 2021 |
Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, et al. Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8]. Journal of Pediatric Urology. PMID 34325994 DOI: 10.1016/j.jpurol.2021.07.008 |
0.057 |
|
| 1990 |
Northrup HR. Arizona construction labor: A case study of union decline Journal of Labor Research. 11: 161-179. DOI: 10.1007/BF02685385 |
0.054 |
|
| 2023 |
Bjoraker KJ, Eggerding C, Ellenberg E, Hollander S, Holmes BM, Lindstrom K, McNutt M, Miller S, Northrup H, Rogers M, Rose S, Scott M, Shim S, Wardley B, Wessenberg L, et al. Best practice recommendations for the management of anxiety during the pegvaliase journey. Molecular Genetics and Metabolism. 141: 107737. PMID 38043481 DOI: 10.1016/j.ymgme.2023.107737 |
0.052 |
|
| 1996 |
Northrup HR. The Dunlop Commission Report: Philosophy and overview Journal of Labor Research. 17. |
0.052 |
|
| 1946 |
Northrup HR. The appropriate bargaining unit question under the railway labor act Quarterly Journal of Economics. 60: 250-269. DOI: 10.2307/1880782 |
0.051 |
|
| 2023 |
Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, et al. Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial. Nature Metabolism. PMID 37770764 DOI: 10.1038/s42255-023-00897-6 |
0.05 |
|
| 1991 |
Northrup HR. The twelve-hour shift in the north American mini-steel industry Journal of Labor Research. 12: 261-278. DOI: 10.1007/BF02685463 |
0.04 |
|
| 1947 |
Northrup HR. Collective bargaining by air line pilots Quarterly Journal of Economics. 61: 533-576. DOI: 10.2307/1885049 |
0.035 |
|
| 1974 |
Northrup HR. Correspondence Labor History. 15: 598-599. DOI: 10.1080/00236567408584316 |
0.032 |
|
| 1942 |
Northrup HR. The tobacco workers international union Quarterly Journal of Economics. 56: 606-626. DOI: 10.2307/1883412 |
0.031 |
|
| 1988 |
Northrup HR, Greis TD, Dowgun KM. The office and professional employees international union: From "union company union" to independent representative Journal of Labor Research. 9: 91-106. DOI: 10.1007/BF02685232 |
0.03 |
|
| 1930 |
Muskat IE, Northrup HE. Studies of conjugated systems. V. The preparation and chlorination of butadiene Journal of the American Chemical Society. 52: 4043-4055. |
0.03 |
|
| 2006 |
Kaye CI, Accurso F, La Franchi S, Lane PA, Northrup H, Pang S, Schaefer GB. Introduction to the newborn screening fact sheets. Pediatrics. 118: 1304-12. PMID 16960984 |
0.029 |
|
| 1988 |
Northrup HR, Greis TD, Dowgun KM. The office and professional employees international union: Part two - Mission unclear and unrealized Journal of Labor Research. 9: 251-270. DOI: 10.1007/BF02685316 |
0.024 |
|
| 2015 |
Northrup HR, Bloom GF. Labor unions and the antitrust laws: Past, present, and proposals Perspectives On Antitrust Policy. 312-354. |
0.02 |
|
| 1996 |
Northrup HR. Corporate campaigns: The perversion of the regulatory process Journal of Labor Research. 17: 344-358. |
0.02 |
|
| 1990 |
Northrup HR. From union hegemony to union disintegration: Collective bargaining in cement and related industries Journal of Labor Research. 11: 360. DOI: 10.1007/BF02685407 |
0.02 |
|
| 1991 |
Northrup HR. "New" union approaches to membership decline: Reviving the policies of the 1920s? Journal of Labor Research. 12: 333-347. DOI: 10.1007/BF02685429 |
0.019 |
|
| 1985 |
Northrup HR. Setting realistic wages Society. 22: 39-43. DOI: 10.1007/BF02699725 |
0.019 |
|
| 1998 |
Northrup HR, Alario LE. "Boston Harbor"-type project labor agreements in construction: Nature, rationales, and legal challenges Journal of Labor Research. 19. |
0.018 |
|
| 1983 |
Northrup HR, Greis TD. The decline in average annual hours worked in the United States, 1947-1979 Journal of Labor Research. 4: 95-113. DOI: 10.1007/BF02685169 |
0.017 |
|
| 1981 |
Northrup JP, Northrup HR. Union divergent investing of pensions: A power, non-employee relations issue Journal of Labor Research. 2: 191-208. DOI: 10.1007/BF02685278 |
0.015 |
|
| 1999 |
Northrup HR, Steen CH. Union "corporate campaigns" as blackmail: The Rico battle at Bayou steel Harvard Journal of Law and Public Policy. 22. |
0.014 |
|
| 1997 |
Northrup HR. Construction union programs to regain jobs: Background and overview Journal of Labor Research. 18. |
0.01 |
|
| 1995 |
Northrup HR. Doublebreasted operations and the decline of construction unionism Journal of Labor Research. 16: 379-385. DOI: 10.1007/BF02685764 |
0.01 |
|
| 1993 |
Northrup HR. "Salting" the contractors' labor force: Construction unions organizing with NLRB assistance Journal of Labor Research. 14: 469-492. DOI: 10.1007/BF02685750 |
0.01 |
|
| 1992 |
Northrup HR. The "Helper" controversy in the construction industry Journal of Labor Research. 13: 421-435. DOI: 10.1007/BF02685531 |
0.01 |
|
| 1989 |
Northrup HR. Construction doublebreasted operations and pre-hire agreements: Assessing the issues Journal of Labor Research. 10: 215-238. DOI: 10.1007/BF02685266 |
0.01 |
|
| 1975 |
Rowan RL, Northrup HR. Multinational Bargaining in M, and Electrical Industries: Approaches and Prospects Journal of Industrial Relations. 17: 1-29. DOI: 10.1177/002218567501700101 |
0.01 |
|
| 1975 |
Northrup HJ, Turner WF. Air pollution control in textile finishing . |
0.01 |
|
| 1967 |
Northrup HE. Medical quackery Journal of the American Medical Women"S Association. 22: 647-650. PMID 4294123 |
0.01 |
|
| 1946 |
Northrup HR. Unions and negro employment The Annals of the American Academy of Political and Social Science. 244: 42-47. DOI: 10.1177/000271624624400107 |
0.01 |
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