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Books
The British history, translated into English from the Latin of Jeffrey of Monmouth : With a large preface concerning the authority of the history / By Aaron Thompson...
Author / Creator:Geoffrey, of Monmouth, Bishop of St. Asaph, 1100?-1154.
Publisher:London : printed for J. Bowyer, H. Clements, and W. and J. Innys, 1718.
Date:1718.
Call Numbers:RB/DS942.01/49
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Books
The British history, [electronic resource] : translated into English from the Latin of Jeffrey of Monmouth. With a large preface concerning the authority of the History. By Aaron Thompson, late of Que...
Author / Creator:Galfridus, Monumentensis, Bishop of St. Asaph.
Publisher:London : printed for J. Bowyer at the Rose in Ludgate-Street, H. Clements at the Half-Moon, and W. and J. Innys at the Princes-Arms in St. Paul's Church-Yard, MDCCXVIII. [1718]
Date:MDCCXVIII. [1718]
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Manuscripts | Clippings
Sub-series 1: Angus & Robertson book reviews in bound volumes, 1894-1970
Date:1894-1970
Call Numbers:MLMSS 3269/Box 478-531
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ArticlesPeer ReviewedFull Text
The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies
Author / Creator:Noto, Fallon K. ; Sangodkar, Jaya ; Adedeji, Bisoye Towobola ; Moody, Sam ; McClain, Christopher B. ; Tong, Ming ; Ostertag, Eric ; Crawford, Jack ; Gao, Xiaohua ; Hurst, Lauren ; O’Connor, Caitlin M. ; Hanson, Erika N. ; Izadmehr, Sudeh ; Tohmé, Rita ; Narla, Jyothsna ; LeSueur, Kristin ; Bhattacharya, Kajari ; Rupani, Amit ; Tayeh, Marwan K. ; Innis, Jeffrey W. ; Galsky, Matthew D. ; Evers, B. Mark ; DiFeo, Analisa ; Narla, Goutham ; Jamling, Tseten Y.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-10, Vol.15 (10), p.e0240169
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ArticlesPeer ReviewedFull Text
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
Author / Creator:Hussain, Iram ; Patni, Nivedita ; Ueda, Masako ; Sorkina, Ekaterina ; Valerio, Cynthia M ; Cochran, Elaine ; Brown, Rebecca J ; Peeden, Joseph ; Tikhonovich, Yulia ; Tiulpakov, Anatoly ; Stender, Sarah R S ; Klouda, Elisabeth ; Tayeh, Marwan K ; Innis, Jeffrey W ; Meyer, Anders ; Lal, Priti ; Godoy-Matos, Amelio F ; Teles, Milena G ; Adams-Huet, Beverley ; Rader, Daniel J ; Hegele, Robert A ; Oral, Elif A ; Garg, Abhimanyu
Publisher:United States: Copyright Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2018-03, Vol.103 (3), p.1005-1014
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ArticlesPeer ReviewedFull Text
Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
Author / Creator:Ziats, Mark N. ; Ahmad, Ayesha ; Bernat, John A. ; Fisher, Rachel ; Glassford, Megan ; Hannibal, Mark C. ; Jacher, Joseph E. ; Weiser, Natasha ; Keegan, Catherine E. ; Lee, Kristen N. ; Marzulla, Tessa B. ; O’Connor, Bridget C. ; Quinonez, Shane C. ; Seemann, Lauren ; Turner, Lauren ; Bielas, Stephanie ; Harris, Nicholas L. ; Ogle, Jacob D. ; Innis, Jeffrey W. ; Martin, Donna M.
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2020-03, Vol.87 (4), p.735-739
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ArticlesPeer ReviewedFull Text
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes
Author / Creator:Mullegama, Sureni V. ; Klein, Steven D. ; Williams, Stephen R. ; Innis, Jeffrey W. ; Probst, Frank J. ; Haldeman-Englert, Chad ; Martinez-Agosto, Julian A. ; Yang, Ying ; Tian, Yuchen ; Elsea, Sarah H. ; Ezashi, Toshihiko
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-05, Vol.11 (1), p.11295-12, Article 11295
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ArticlesPeer ReviewedFull Text
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
Author / Creator:Reis, Linda M. ; Tyler, Rebecca C. ; Schilter, Kala F. ; Abdul-Rahman, Omar ; Innis, Jeffrey W. ; Kozel, Beth A. ; Schneider, Adele S. ; Bardakjian, Tanya M. ; Lose, Edward J. ; Martin, Donna M. ; Broeckel, Ulrich ; Semina, Elena V.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2011-10, Vol.130 (4), p.495-504
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ArticlesPeer ReviewedFull Text
A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification
Author / Creator:Serpen, Jasmine Y. ; Presley, William ; Beil, Adelyn ; Armenti, Stephen T. ; Johnson, Kayla ; Mian, Shahzad I. ; Innis, Jeffrey W. ; Prasov, Lev
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-05, Vol.14 (5), p.1034
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ArticlesPeer ReviewedFull Text
Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time
Author / Creator:Jalal Eldin, Abdel Wahab ; Tombayoglu, Dilara ; Butz, Laura ; Affinati, Alison ; Meral, Rasimcan ; Ontan, Mehmet Selman ; Walkovich, Kelly ; Westerhoff, Maria ; Innis, Jeffrey W. ; Parikh, Neehar D. ; Oral, Elif A.
Publisher:England: BioMed Central
Journal title:Clinical diabetes and endocrinology, 2019-07, Vol.5 (1), p.9-7, Article 9
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ArticlesPeer ReviewedFull Text
A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice
Author / Creator:Lehoczky, Jessica A. ; Thomas, Peedikayil E. ; Patrie, Kevin M. ; Owens, Kailey M. ; Villarreal, Lisa M. ; Galbraith, Kenneth ; Washburn, Joe ; Johnson, Craig N. ; Gavino, Bryant ; Borowsky, Alexander D. ; Millen, Kathleen J. ; Wakenight, Paul ; Law, William ; Van Keuren, Margaret L. ; Gavrilina, Galina ; Hughes, Elizabeth D. ; Saunders, Thomas L. ; Brihn, Lesil ; Nadeau, Joseph H. ; Innis, Jeffrey W.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-12, Vol.9 (12), p.e1003967
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ArticlesPeer ReviewedFull Text
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
Author / Creator:Gee, Heon Yung ; Zhang, Fujian ; Ashraf, Shazia ; Kohl, Stefan ; Sadowski, Carolin E. ; Vega-Warner, Virginia ; Zhou, Weibin ; Lovric, Svjetlana ; Fang, Humphrey ; Nettleton, Margaret ; Zhu, Jun-yi ; Hoefele, Julia ; Weber, Lutz T. ; Podracka, Ludmila ; Boor, Andrej ; Fehrenbach, Henry ; Innis, Jeffrey W. ; Washburn, Joseph ; Levy, Shawn ; Lifton, Richard P. ; Otto, Edgar A. ; Han, Zhe ; Hildebrandt, Friedhelm
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-07, Vol.125 (6), p.2375-2384
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ArticlesPeer ReviewedFull Text
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Author / Creator:Gee, Heon Yung ; Saisawat, Pawaree ; Ashraf, Shazia ; Hurd, Toby W. ; Vega-Warner, Virginia ; Fang, Humphrey ; Beck, Bodo B. ; Gribouval, Olivier ; Zhou, Weibin ; Diaz, Katrina A. ; Natarajan, Sivakumar ; Wiggins, Roger C. ; Lovric, Svjetlana ; Chernin, Gil ; Schoeb, Dominik S. ; Ovunc, Bugsu ; Frishberg, Yaacov ; Soliman, Neveen A. ; Fathy, Hanan M. ; Goebel, Heike ; Hoefele, Julia ; Weber, Lutz T. ; Innis, Jeffrey W. ; Faul, Christian ; Han, Zhe ; Washburn, Joseph ; Antignac, Corinne ; Levy, Shawn ; Otto, Edgar A. ; Hildebrandt, Friedhelm
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2013-08, Vol.123 (8), p.3243-3253
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ArticlesPeer ReviewedFull Text
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis
Author / Creator:Sahinoz, Melis ; Khairi, Shafaq ; Cuttitta, Ashley ; Brady, Graham F. ; Rupani, Amit ; Meral, Rasimcan ; Tayeh, Marwan K. ; Thomas, Peedikayil ; Riebschleger, Meredith ; Camelo-Piragua, Sandra ; Innis, Jeffrey W. ; Bishr Omary, M. ; Michele, Daniel E. ; Oral, Elif A.
Publisher:England: BioMed Central
Journal title:Clinical diabetes and endocrinology, 2018-03, Vol.4 (1), p.6-6, Article 6
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ArticlesPeer ReviewedFull Text
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Author / Creator:Brunetti-Pierri, Nicola ; Berg, Jonathan S ; Scaglia, Fernando ; Belmont, John ; Bacino, Carlos A ; Sahoo, Trilochan ; Lalani, Seema R ; Graham, Brett ; Lee, Brendan ; Shinawi, Marwan ; Shen, Joseph ; Kang, Sung-Hae L ; Pursley, Amber ; Lotze, Timothy ; Kennedy, Gail ; Lansky-Shafer, Susan ; Weaver, Christine ; Roeder, Elizabeth R ; Grebe, Theresa A ; Arnold, Georgianne L ; Hutchison, Terry ; Reimschisel, Tyler ; Amato, Stephen ; Geragthy, Michael T ; Innis, Jeffrey W ; Obersztyn, Ewa ; Nowakowska, Beata ; Rosengren, Sally S ; Bader, Patricia I ; Grange, Dorothy K ; Naqvi, Sayed ; Garnica, Adolfo D ; Bernes, Saunder M ; Fong, Chin-To ; Summers, Anne ; Walters, W David ; Lupski, James R ; Stankiewicz, Pawel ; Cheung, Sau Wai ; Patel, Ankita
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-12, Vol.40 (12), p.1466-1471
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ArticlesPeer ReviewedFull Text
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
Author / Creator:Saisawat, Pawaree ; Tasic, Velibor ; Vega-Warner, Virginia ; Kehinde, Elijah O. ; Günther, Barbara ; Airik, Rannar ; Innis, Jeffrey W. ; Hoskins, Bethan E. ; Hoefele, Julia ; Otto, Edgar A. ; Hildebrandt, Friedhelm
Publisher:Basingstoke: Elsevier Inc
Journal title:Kidney international, 2012-01, Vol.81 (2), p.196-200
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ArticlesPeer ReviewedFull Text
Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic
Author / Creator:Parekh, Bela ; Beil, Adelyn ; Blevins, Bridget ; Jacobson, Adam ; Williams, Pamela ; Innis, Jeffrey W. ; Barone Pritchard, Amanda ; Prasov, Lev
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-03, Vol.14 (3), p.726
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ArticlesPeer ReviewedFull Text
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Author / Creator:Gee, Heon Yung ; Otto, Edgar A. ; Hurd, Toby W. ; Ashraf, Shazia ; Chaki, Moumita ; Cluckey, Andrew ; Vega-Warner, Virginia ; Saisawat, Pawaree ; Diaz, Katrina A. ; Fang, Humphrey ; Kohl, Stefan ; Allen, Susan J. ; Airik, Rannar ; Zhou, Weibin ; Ramaswami, Gokul ; Janssen, Sabine ; Fu, Clementine ; Innis, Jamie L. ; Weber, Stefanie ; Vester, Udo ; Davis, Erica E. ; Katsanis, Nicholas ; Fathy, Hanan M. ; Jeck, Nikola ; Klaus, Gunther ; Nayir, Ahmet ; Rahim, Khawla A. ; Attrach, Ibrahim Al ; Hassoun, Ibrahim Al ; Ozturk, Savas ; Drozdz, Dorota ; Helmchen, Udo ; O'Toole, John F. ; Attanasio, Massimo ; Lewis, Richard A. ; Nürnberg, Gudrun ; Nürnberg, Peter ; Washburn, Joseph ; MacDonald, James ; Innis, Jeffrey W. ; Levy, Shawn ; Hildebrandt, Friedhelm
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2014-04, Vol.85 (4), p.880-887
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ArticlesPeer ReviewedFull Text
Interstitial microdeletion of the 1p34.3p34.2 region
Author / Creator:Jacher, Joseph E. ; Innis, Jeffrey W.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2018-07, Vol.6 (4), p.673-677
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ArticlesPeer ReviewedFull Text
Of fingers, toes and penises
Author / Creator:Kondo, Takashi ; Zákány, József ; Innis, Jeffrey W. ; Duboule, Denis
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 1997-11, Vol.390 (6655), p.29-29
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The British history, translated into English from the Latin of Jeffrey of Monmouth : With a large preface concerning the authority of the history / By Aaron Thompson...

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The British history, [electronic resource] : translated into English from the Latin of Jeffrey of Monmouth. With a large preface concerning the authority of the History. By Aaron Thompson, late of Que...

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Sub-series 1: Angus & Robertson book reviews in bound volumes, 1894-1970

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The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies

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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

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Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

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A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification

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Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

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A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice

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KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

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Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

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Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic

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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

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Interstitial microdeletion of the 1p34.3p34.2 region

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Of fingers, toes and penises

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