| Year |
Citation |
Score |
| 2016 |
Prensner JR, Mody RJ, Wu Y, Lonigro RJ, Cao X, Roychowdhury S, Vats P, Frank KM, Asangani I, Palanisamy N, Rabah RM, Kunju LP, Everett J, Stoffel EM, Innis JW, et al. Abstract PR07: The landscape of molecular aberrations in pediatric and young adult cancer patients undergoing clinical sequencing for disease management: Novel biological findings from the Peds-MiOncoSeq study Cancer Research. 76. DOI: 10.1158/1538-7445.Pedca15-Pr07 |
0.35 |
|
| 2014 |
Quinonez SC, Innis JW. Human HOX gene disorders. Molecular Genetics and Metabolism. 111: 4-15. PMID 24239177 DOI: 10.1016/j.ymgme.2013.10.012 |
0.353 |
|
| 2013 |
Lehoczky JA, Thomas PE, Patrie KM, Owens KM, Villarreal LM, Galbraith K, Washburn J, Johnson CN, Gavino B, Borowsky AD, Millen KJ, Wakenight P, Law W, Van Keuren ML, Gavrilina G, ... ... Innis JW, et al. A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice. Plos Genetics. 9: e1003967. PMID 24339789 DOI: 10.1371/Journal.Pgen.1003967 |
0.717 |
|
| 2013 |
Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, ... ... Innis JW, et al. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. The Journal of Clinical Investigation. 123: 3243-53. PMID 23867502 DOI: 10.1172/Jci69134 |
0.372 |
|
| 2013 |
Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW. Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation. American Journal of Medical Genetics. Part A. 161: 1019-27. PMID 23532960 DOI: 10.1002/Ajmg.A.35843 |
0.356 |
|
| 2012 |
Quinonez SC, Hedera P, Barr M, Ackley T, Lam C, Purkayastha A, Glover TW, Innis JW. Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings. American Journal of Medical Genetics. Part A. 158: 2591-601. PMID 22903861 DOI: 10.1002/Ajmg.A.35563 |
0.315 |
|
| 2012 |
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. 90: 925-33. PMID 22541558 DOI: 10.1016/J.Ajhg.2012.04.004 |
0.379 |
|
| 2012 |
Butler MG, Dagenais SL, Garcia-Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW. Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. American Journal of Medical Genetics. Part A. 158: 839-49. PMID 22407726 DOI: 10.1002/Ajmg.A.35229 |
0.425 |
|
| 2012 |
Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. American Journal of Medical Genetics. Part A. 158: 635-40. PMID 22302627 DOI: 10.1002/Ajmg.A.34425 |
0.358 |
|
| 2012 |
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. The Journal of Pediatrics. 160: 679-683.e2. PMID 22050868 DOI: 10.1016/J.Jpeds.2011.09.019 |
0.34 |
|
| 2012 |
Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F. Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis Kidney International. 81: 196-200. PMID 21900877 DOI: 10.1038/Ki.2011.315 |
0.407 |
|
| 2011 |
Roychowdhury S, Iyer MK, Robinson DR, Lonigro RJ, Wu YM, Cao X, Kalyana-Sundaram S, Sam L, Balbin OA, Quist MJ, Barrette T, Everett J, Siddiqui J, Kunju LP, Navone N, ... ... Innis JW, et al. Personalized oncology through integrative high-throughput sequencing: a pilot study. Science Translational Medicine. 3: 111ra121. PMID 22133722 DOI: 10.1126/Scitranslmed.3003161 |
0.324 |
|
| 2011 |
Nelson ME, Griffin GR, Innis JW, Green GE. Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck. The Annals of Otology, Rhinology, and Laryngology. 120: 682-5. PMID 22097155 DOI: 10.1177/000348941112001009 |
0.321 |
|
| 2011 |
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, ... ... Innis JW, et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics. 89: 551-63. PMID 21981781 DOI: 10.1016/J.Ajhg.2011.09.011 |
0.367 |
|
| 2011 |
Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome Journal of Pediatric Urology. 7: 569-573. PMID 21450525 DOI: 10.1016/J.Jpurol.2011.02.034 |
0.343 |
|
| 2011 |
Nelson M, Quinonez S, Ackley T, Iyer RK, Innis JW. Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion. American Journal of Medical Genetics. Part A. 155: 612-7. PMID 21344629 DOI: 10.1002/Ajmg.A.33808 |
0.407 |
|
| 2011 |
Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Human Genetics. 130: 495-504. PMID 21340693 DOI: 10.1007/S00439-011-0968-Y |
0.358 |
|
| 2011 |
Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis JW, Misra VK. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. American Journal of Medical Genetics. Part A. 155: 154-63. PMID 21204225 DOI: 10.1002/Ajmg.A.33751 |
0.371 |
|
| 2010 |
Boztug K, Rosenberg PS, Böhm M, Moulton T, Curtin J, Rezaei N, Corns J, Innis J, Avci Z, Tran HC, Pellier I, Gatti S, Fruge R, Parvaneh N, Darbyshire P, et al. Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency. Blood. 116: 1495-1495. DOI: 10.1182/Blood.V116.21.1495.1495 |
0.334 |
|
| 2009 |
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics. 46: 511-23. PMID 19372089 DOI: 10.1136/Jmg.2008.063412 |
0.356 |
|
| 2008 |
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, ... ... Innis JW, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nature Genetics. 40: 1466-71. PMID 19029900 DOI: 10.1038/Ng.279 |
0.337 |
|
| 2008 |
Lehoczky JA, Innis JW. Expanded HOXA13 polyalanine tracts in a monotreme Evolution and Development. 10: 433-438. PMID 18638320 DOI: 10.1111/J.1525-142X.2008.00254.X |
0.662 |
|
| 2008 |
Lehoczky JA, Innis JW. BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud Evolution and Development. 10: 421-432. PMID 18638319 DOI: 10.1111/J.1525-142X.2008.00253.X |
0.736 |
|
| 2007 |
Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW. Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. American Journal of Medical Genetics. Part A. 143: 3161-8. PMID 17935235 DOI: 10.1002/Ajmg.A.31967 |
0.307 |
|
| 2007 |
Lehoczky JA, Innis JW. A mouse transgene drives embryonic dorsal posterior commissure expression Transgenic Research. 16: 823-828. PMID 17549599 DOI: 10.1007/S11248-007-9104-0 |
0.697 |
|
| 2006 |
Lehoczky JA, Cai WW, Douglas JA, Moran JL, Beier DR, Innis JW. Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 17: 903-13. PMID 16964440 DOI: 10.1007/S00335-006-0041-7 |
0.687 |
|
| 2006 |
Williams ME, Lehoczky JA, Innis JW. A group 13 homeodomain is neither necessary nor sufficient for posterior prevalence in the mouse limb. Developmental Biology. 297: 493-507. PMID 16806154 DOI: 10.1016/J.Ydbio.2006.05.027 |
0.685 |
|
| 2006 |
Lehoczky JA, Williams ME, Innis JW. Long-range regulation of Hoxa13 in limb development Developmental Biology. 295: 387-388. DOI: 10.1016/J.Ydbio.2006.04.189 |
0.647 |
|
| 2005 |
McCabe CD, Innis JW. A genomic approach to the identification and characterization of HOXA13 functional binding elements. Nucleic Acids Research. 33: 6782-94. PMID 16321965 DOI: 10.1093/Nar/Gki979 |
0.384 |
|
| 2005 |
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatric Research. 58: 981-6. PMID 16183809 DOI: 10.1203/01.Pdr.0000182593.95441.64 |
0.338 |
|
| 2005 |
Williams TM, Williams ME, Heaton JH, Gelehrter TD, Innis JW. Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability. Nucleic Acids Research. 33: 4475-84. PMID 16087734 DOI: 10.1093/Nar/Gki761 |
0.303 |
|
| 2005 |
Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. Molecular Genetics and Metabolism. 86: 200-5. PMID 16081310 DOI: 10.1016/J.Ymgme.2005.06.005 |
0.329 |
|
| 2005 |
DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. American Journal of Medical Genetics. Part A. 137: 276-82. PMID 16075459 DOI: 10.1002/Ajmg.A.30857 |
0.34 |
|
| 2005 |
Williams TM, Williams ME, Kuick R, Misek D, McDonagh K, Hanash S, Innis JW. Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability. Developmental Biology. 279: 462-80. PMID 15733672 DOI: 10.1016/J.Ydbio.2004.12.015 |
0.446 |
|
| 2004 |
Lehoczky JA, Williams ME, Innis JW. Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication. Evolution & Development. 6: 423-30. PMID 15509224 DOI: 10.1111/J.1525-142X.2004.04050.X |
0.735 |
|
| 2004 |
Innis JW, Hedera P. Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. American Journal of Medical Genetics. Part A. 131: 77-81. PMID 15389704 DOI: 10.1002/Ajmg.A.30296 |
0.347 |
|
| 2004 |
Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics. 13: 2841-51. PMID 15385446 DOI: 10.1093/Hmg/Ddh306 |
0.396 |
|
| 2004 |
Wechsler SB, Lehoczky JA, Hall JG, Innis JW. Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: Further delineation and mutational analysis Clinical Dysmorphology. 13: 63-69. PMID 15057119 DOI: 10.1097/00019605-200404000-00002 |
0.695 |
|
| 2004 |
Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. American Journal of Medical Genetics. Part A. 125: 293-8. PMID 14994240 DOI: 10.1002/Ajmg.A.20455 |
0.688 |
|
| 2003 |
Hedera P, Innis JW. Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. American Journal of Medical Genetics. Part A. 122: 257-60. PMID 12966528 DOI: 10.1002/Ajmg.A.20263 |
0.32 |
|
| 2003 |
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. American Journal of Human Genetics. 72: 408-18. PMID 12457340 DOI: 10.1086/346090 |
0.366 |
|
| 2002 |
Innis JW, Margulies EH, Kardia S. Integrative biology and the developing limb bud. Evolution & Development. 4: 378-89. PMID 12356268 DOI: 10.1046/J.1525-142X.2002.02025.X |
0.705 |
|
| 2002 |
Hedera P, Innis JW. Possible third case of Lin-Gettig syndrome. American Journal of Medical Genetics. 110: 380-3. PMID 12116213 DOI: 10.1002/Ajmg.10460 |
0.303 |
|
| 2002 |
Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Human Mutation. 19: 573-4. PMID 11968094 DOI: 10.1002/Humu.9036 |
0.396 |
|
| 2002 |
Innis JW. Priming the search for HOX mutations. Teratology. 65: 47-9. PMID 11857505 DOI: 10.1002/Tera.10021 |
0.428 |
|
| 2001 |
Margulies EH, Kardia SL, Innis JW. A comparative molecular analysis of developing mouse forelimbs and hindlimbs using serial analysis of gene expression (SAGE). Genome Research. 11: 1686-98. PMID 11591645 DOI: 10.1101/Gr.192601 |
0.714 |
|
| 2001 |
Dagenais SL, Adam AN, Innis JW, Glover TW. A novel frameshift mutation in exon 23 of ATP7a (MNK) results in occipital horn syndrome and not in Menkes disease American Journal of Human Genetics. 69: 420-427. PMID 11431706 DOI: 10.1086/321290 |
0.348 |
|
| 2001 |
Margulies EH, Kardia SL, Innis JW. Identification and prevention of a GC content bias in SAGE libraries. Nucleic Acids Research. 29: E60-0. PMID 11410683 DOI: 10.1093/Nar/29.12.E60 |
0.667 |
|
| 2000 |
Margulies EH, Innis JW. eSAGE: managing and analysing data generated with serial analysis of gene expression (SAGE). Bioinformatics (Oxford, England). 16: 650-1. PMID 11038335 DOI: 10.1093/Bioinformatics/16.7.650 |
0.666 |
|
| 2000 |
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. American Journal of Human Genetics. 67: 197-202. PMID 10839976 DOI: 10.1086/302961 |
0.354 |
|
| 2000 |
Celli J, Van Beusekom E, Hennekam RCM, Gallardo ME, Smeets DFCM, Rodríguez De Córdoba S, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LCP, Van Bokhoven H, Brunner HG. Familial syndromic esophageal atresia maps to 2p23-p24 American Journal of Human Genetics. 66: 436-444. PMID 10677303 DOI: 10.1086/302779 |
0.38 |
|
| 2000 |
Mortlock DP, Sateesh P, Innis JW. Evolution of N-terminal sequences of the vertebrate HOXA13 protein. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 11: 151-8. PMID 10656931 DOI: 10.1007/S003350010029 |
0.367 |
|
| 2000 |
Post LC, Margulies EH, Kuo A, Innis JW. Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein. Developmental Biology. 217: 290-300. PMID 10625554 DOI: 10.1006/Dbio.1999.9550 |
0.691 |
|
| 2000 |
Margulies EH, Innis JW. Building arms or legs with molecular models. Pediatric Research. 47: 2-3. PMID 10625073 DOI: 10.1203/00006450-200001000-00002 |
0.634 |
|
| 1999 |
Post LC, Innis JW. Infertility in Adult Hypodactyly Mice Is Associated with Hypoplasia of Distal Reproductive Structures Biology of Reproduction. 61: 1402-1408. PMID 10569982 DOI: 10.1095/Biolreprod61.6.1402 |
0.324 |
|
| 1999 |
Post LC, Innis JW. Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice. The International Journal of Developmental Biology. 43: 287-294. DOI: 10.1387/Ijdb.10470645 |
0.405 |
|
| 1998 |
Innis JW. Role of HOX genes in human development. Current Opinion in Pediatrics. 9: 617-22. PMID 9425595 DOI: 10.1097/00008480-199712000-00011 |
0.42 |
|
| 1997 |
Kondo T, Zákány J, Innis JW, Duboule D. Of fingers, toes and penises. Nature. 390: 29. PMID 9363887 DOI: 10.1038/36234 |
0.434 |
|
| 1997 |
Innis JW, Asher JH, Liang Y, Wang A, Wilke CM, Dierick HA, Kazen-Gillespie K, Sheldon S, Glover TW, Friedman TB. Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia. American Journal of Medical Genetics. 71: 292-7. PMID 9268099 DOI: 10.1002/(Sici)1096-8628(19970822)71:3<292::Aid-Ajmg9>3.0.Co;2-W |
0.386 |
|
| 1997 |
Innis JW, Asher JH, Poznanski AK, Sheldon S. Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies. American Journal of Medical Genetics. 71: 150-5. PMID 9217213 DOI: 10.1002/(Sici)1096-8628(19970808)71:2<150::Aid-Ajmg6>3.0.Co;2-1 |
0.337 |
|
| 1997 |
Mortlock DP, Innis JW. Mutation of HOXA13 in hand-foot-genital syndrome. Nature Genetics. 15: 179-80. PMID 9020844 DOI: 10.1038/Ng0297-179 |
0.37 |
|
| 1996 |
Mortlock DP, Nelson MR, Innis JW. An efficient method for isolating putative promoters and 5'-transcribed sequences from large genomic clones. Genome Research. 6: 327-35. PMID 8723725 DOI: 10.1101/Gr.6.4.327 |
0.315 |
|
| 1996 |
Griffith AJ, Arts A, Downs C, Innis JW, Shepard NT, Sheldon S, Gebarski SS. Familial large vestibular aqueduct syndrome. The Laryngoscope. 106: 960-5. PMID 8699909 DOI: 10.1097/00005537-199608000-00009 |
0.328 |
|
| 1996 |
Mortlock DP, Post LC, Innis JW. The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. Nature Genetics. 13: 284-9. PMID 8673126 DOI: 10.1038/Ng0796-284 |
0.43 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 1995 |
Begy CR, Dierick HA, Innis JW, Glover TW. Two highly polymorphic CA repeats in the Menkes gene (ATP7A). Human Genetics. 96: 355-6. PMID 7649557 DOI: 10.1007/Bf00210423 |
0.3 |
|
| 2005 |
Williams TM, Williams ME, Innis JW. Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction. Developmental Biology. 277: 457-71. PMID 15617687 DOI: 10.1016/J.Ydbio.2004.10.004 |
0.3 |
|
| 1996 |
Innis JW, Darling SM, Kazen-Gillespie K, Post LC, Mortlock DP, Yang T. Orientation of the Hoxa complex and placement of the Hd locus distal to Hoxa2 on mouse chromosome 6. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 7: 216-7. PMID 8833244 DOI: 10.1007/S003359900058 |
0.28 |
|
| 1998 |
Innis JW, Mortlock DP. Limb development: molecular dysmorphology is at hand! Clinical Genetics. 53: 337-48. PMID 9660051 DOI: 10.1111/J.1399-0004.1998.Tb02744.X |
0.28 |
|
| 2023 |
Serpen JY, Presley W, Beil A, Armenti ST, Johnson K, Mian SI, Innis JW, Prasov L. A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification. Genes. 14. PMID 37239394 DOI: 10.3390/genes14051034 |
0.267 |
|
| 2015 |
Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, ... ... Innis JW, et al. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. The Journal of Clinical Investigation. 125: 2375-84. PMID 25961457 DOI: 10.1172/Jci79504 |
0.267 |
|
| 1997 |
Innis JW, Kazen-Gillespie K, Post LC, McGorman J. High-resolution genetic mapping of the hypodactyly (Hd) locus on mouse chromosome 6. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 7: 2-5. PMID 8903719 DOI: 10.1007/S003359900002 |
0.265 |
|
| 1998 |
Innis JW, Sieving PA, McMillan P, Weatherly RA. Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth. American Journal of Medical Genetics. 75: 13-7. PMID 9450850 DOI: 10.1002/(Sici)1096-8628(19980106)75:1<13::Aid-Ajmg4>3.0.Co;2-R |
0.265 |
|
| 2021 |
Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T. Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Scientific Reports. 11: 11295. PMID 34050248 DOI: 10.1038/s41598-021-90798-z |
0.262 |
|
| 2021 |
Khayat MM, Hu J, Jiang Y, Li H, Chander V, Dawood M, Hansen AW, Li S, Friedman J, Cross L, Bijlsma EK, Ruivenkamp CAL, Sansbury FH, Innis JW, O'Shea JO, et al. missense mutations in Xia-Gibbs syndrome. Hgg Advances. 2. PMID 34950897 DOI: 10.1016/j.xhgg.2021.100049 |
0.247 |
|
| 1994 |
McDonald M, Maynard S, Sheldon S, Innis JW. Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma American Journal of Medical Genetics. 49: 288-293. PMID 8209888 DOI: 10.1002/Ajmg.1320490309 |
0.241 |
|
| 2018 |
Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Human Mutation. PMID 29573043 DOI: 10.1002/Humu.23424 |
0.24 |
|
| 2015 |
Thorsson T, Russell WW, El-Kashlan N, Soemedi R, Levine J, Geisler SB, Ackley T, Tomita-Mitchell A, Rosenfeld JA, Töpf A, Tayeh M, Goodship J, Innis JW, Keavney B, Russell MW. Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development. Congenital Heart Disease. 10: 193-208. PMID 24720490 DOI: 10.1111/Chd.12179 |
0.23 |
|
| 2017 |
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis J, Meyer A, et al. A Novel Generalized Lipodystrophy-associated Progeroid Syndrome due to recurrent heterozygous LMNA p.T10I Mutation. The Journal of Clinical Endocrinology and Metabolism. PMID 29267953 DOI: 10.1210/Jc.2017-02078 |
0.212 |
|
| 2014 |
Russell MW, Raeker MO, Geisler SB, Thomas PE, Simmons TA, Bernat JA, Thorsson T, Innis JW. Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Human Molecular Genetics. 23: 4272-84. PMID 24694933 DOI: 10.1093/hmg/ddu144 |
0.21 |
|
| 2006 |
Lahidji SF, Buchman SR, Muraszko K, Innis JW, Keegan CE. Craniofacial dyssynostosis in two boys with apparently normal cognitive development. American Journal of Medical Genetics. Part A. 140: 1333-6. PMID 16691590 DOI: 10.1002/Ajmg.A.31268 |
0.21 |
|
| 2020 |
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, ... ... Innis JW, et al. Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients. Science Advances. 6. PMID 33268356 DOI: 10.1126/sciadv.abc9207 |
0.209 |
|
| 2014 |
Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, ... ... Innis JL, ... ... Innis JW, et al. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney International. 85: 880-7. PMID 24257694 DOI: 10.1038/Ki.2013.450 |
0.206 |
|
| 2022 |
Tayeh MK, DeVaul J, LeSueur K, Yang C, Bedoyan JK, Thomas P, Hannibal MC, Innis JW. Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability. American Journal of Medical Genetics. Part A. PMID 35365979 DOI: 10.1002/ajmg.a.62752 |
0.206 |
|
| 2015 |
Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, et al. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. PMID 26576547 DOI: 10.1007/S10048-015-0466-9 |
0.198 |
|
| 2018 |
Jacher JE, Innis JW. Interstitial microdeletion of the 1p34.3p34.2 region. Molecular Genetics & Genomic Medicine. PMID 29726122 DOI: 10.1002/mgg3.409 |
0.183 |
|
| 2019 |
Jacher JE, Roy N, Ghaziuddin M, Innis JW. Expanding the phenotypic spectrum of MBOAT7-related intellectual disability. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 31282596 DOI: 10.1002/ajmg.b.32749 |
0.183 |
|
| 2018 |
Sahinoz M, Khairi S, Cuttitta A, Brady GF, Rupani A, Meral R, Tayeh MK, Thomas P, Riebschleger M, Camelo-Piragua S, Innis JW, Bishr Omary M, Michele DE, Oral EA. Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. Clinical Diabetes and Endocrinology. 4: 6. PMID 29610677 DOI: 10.1186/s40842-018-0058-3 |
0.18 |
|
| 2020 |
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, ... Innis JW, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32376980 DOI: 10.1038/S41436-020-0792-7 |
0.178 |
|
| 2017 |
Robinson DR, Wu YM, Lonigro RJ, Vats P, Cobain E, Everett J, Cao X, Rabban E, Kumar-Sinha C, Raymond V, Schuetze S, Alva A, Siddiqui J, Chugh R, Worden F, ... ... Innis J, et al. Integrative clinical genomics of metastatic cancer. Nature. PMID 28783718 DOI: 10.1038/Nature23306 |
0.173 |
|
| 2015 |
Tayeh MK, Rocco T, Ackley T, Ernst L, Glover T, Innis JW. Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay. Clinical Case Reports. 3: 396-401. PMID 26185636 DOI: 10.1002/Ccr3.241 |
0.167 |
|
| 1998 |
Carey ML, Friedman TB, Asher JH, Innis JW. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. Journal of Medical Genetics. 35: 248-50. PMID 9541113 DOI: 10.1136/jmg.35.3.248 |
0.165 |
|
| 2023 |
Parekh B, Beil A, Blevins B, Jacobson A, Williams P, Innis JW, Barone Pritchard A, Prasov L. Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic. Genes. 14. PMID 36980998 DOI: 10.3390/genes14030726 |
0.159 |
|
| 2019 |
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, ... ... Innis JW, et al. Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. Pediatric Research. PMID 31618753 DOI: 10.1038/S41390-019-0611-5 |
0.155 |
|
| 2013 |
Thorsson T, Sow S, Levine J, Russell W, El-Kashlam N, Innis J, Zoellner S, Russell M. CHROMOSOMAL REARRANGEMENTS IN PATIENTS WITH CONGENITAL CARDIAC DEFECTS: A META-ANALYSIS REVEALS NOVEL POTENTIAL CRITICAL REGIONS INVOLVED IN HEART DEVELOPMENT Journal of the American College of Cardiology. 61: E524. DOI: 10.1016/s0735-1097(13)60524-0 |
0.154 |
|
| 2024 |
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, et al. Personal journeys to and in human genetics and dysmorphology. American Journal of Medical Genetics. Part A. e63514. PMID 38329159 DOI: 10.1002/ajmg.a.63514 |
0.154 |
|
| 2015 |
Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. American Journal of Medical Genetics. Part A. 167: 2664-73. PMID 26227573 DOI: 10.1002/ajmg.a.37269 |
0.142 |
|
| 2015 |
Mody RJ, Wu YM, Lonigro RJ, Cao X, Roychowdhury S, Vats P, Frank KM, Prensner JR, Asangani I, Palanisamy N, Dillman JR, Rabah RM, Kunju LP, Everett J, Raymond VM, ... ... Innis JW, et al. Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. Jama. 314: 913-25. PMID 26325560 DOI: 10.1001/Jama.2015.10080 |
0.127 |
|
| 2019 |
Jalal Eldin AW, Tombayoglu D, Butz L, Affinati A, Meral R, Ontan MS, Walkovich K, Westerhoff M, Innis JW, Parikh ND, Oral EA. Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time. Clinical Diabetes and Endocrinology. 5: 9. PMID 31333877 DOI: 10.1186/s40842-019-0082-y |
0.119 |
|
| 2020 |
Noto FK, Sangodkar J, Adedeji BT, Moody S, McClain CB, Tong M, Ostertag E, Crawford J, Gao X, Hurst L, O'Connor CM, Hanson EN, Izadmehr S, Tohmé R, Narla J, ... ... Innis JW, et al. The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies. Plos One. 15: e0240169. PMID 33027304 DOI: 10.1371/journal.pone.0240169 |
0.1 |
|
| 2021 |
Jalal Eldin A, Akinci B, Monteiro da Rocha A, Meral R, Yildirim Simsir I, Adiyaman SC, Ozpelit E, Bhave N, Gen R, Yurekli B, Ozdemir Kutbay N, Siklar Z, Neidert AH, Hench R, Tayeh MK, ... Innis JW, et al. Cardiac Phenotype in Familial Partial Lipodystrophy. Clinical Endocrinology. PMID 33502018 DOI: 10.1111/cen.14426 |
0.068 |
|
| 2017 |
Ajluni N, Meral R, Neidert AH, Brady GF, Buras E, McKenna B, DiPaola F, Chenevert TL, Horowitz JF, Buggs-Saxton C, Rupani AR, Thomas PE, Tayeh MK, Innis JW, Omary MB, et al. Spectrum of Disease Associated with Partial Lipodystrophy (PL): Lessons from a Trial Cohort. Clinical Endocrinology. PMID 28199729 DOI: 10.1111/Cen.13311 |
0.049 |
|
| 2021 |
Akinci B, Subauste A, Ajluni N, Esfandiari NH, Meral R, Neidert AH, Eraslan A, Hench R, Rus D, McKenna B, Hussain HK, Chenevert TL, Tayeh MK, Rupani AR, Innis JW, et al. Metreleptin therapy for nonalcoholic steatohepatitis: Open-label therapy interventions in two different clinical settings. Med (New York, N.Y.). 2: 814-835. PMID 35291351 DOI: 10.1016/j.medj.2021.04.001 |
0.036 |
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