| 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 |
|
| Show low-probability matches. |