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Shrikant Mane

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Oligonucleotide Array Sequence Analysis

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Mathieu Lemaire; Janine Altmüller; Véronique Baudouin; Murim Choi; Laure Collard; Georges Deschenes; Fadi Fakhouri; Véronique Frémeaux-Bacchi; Marie Claire Gubler; John Hwa; Weizhen Ji; Moglie Le Quintrec; Brigitte Llanas; Chantal Loirat; Mohammed A Majid; Shrikant M Mane; Frank Martinez; Gilbert W Moeckel; Denis Morin; François Nobili; Gudrun Nürnberg; Peter Nürnberg; John D Overton; Nathalie Rioux-Leclerc; Franz Schaefer; Eva Simkova; Wai Ho Tang; Sophie Taque; Holger Thiele; Richard P Lifton
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Jonathan L Levinsohn; Richard P Lifton; Erin S Loring; Shrikant M Mane; Jennifer M McNiff; Deepak Narayan; John D Overton; Amy S Paller; Jeffrey L Sugarman; Li C Tian; Annette M Wagner; Duri Yun; Richard J Antaya; Lynn M Boyden; Keith Choate
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
Kaya Bilguvar; Titus Boggon; Ahmet O Caglayan; Sreeganga S Chandra; Murim Choi; Sakir Delil; alp dincer; Ozdem Erturk; Arthur L Horwich; Michele H Johnson; Murat Karacorlu; Richard P Lifton; Angeliki Louvi; Shrikant M Mane; Cigdem Ozkara; Beyhan Tuysuz; Navneet K Tyagi; Cengiz Yalcinkaya; Mehmet Bakircioglu; Jacob F Baranoski; Murat Gunel
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.

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All Publications

2013: Mathieu Lemaire; Janine Altmüller; Véronique Baudouin; Murim Choi; Laure Collard; Georges Deschenes; Fadi Fakhouri; Véronique Frémeaux-Bacchi; Marie Claire Gubler; John Hwa; Weizhen Ji; Moglie Le Quintrec; Brigitte Llanas; Chantal Loirat; Mohammed A Majid; Shrikant M Mane; Frank Martinez; Gilbert W Moeckel; Denis Morin; François Nobili; Gudrun Nürnberg; Peter Nürnberg; John D Overton; Nathalie Rioux-Leclerc; Franz Schaefer; Eva Simkova; Wai Ho Tang; Sophie Taque; Holger Thiele; Richard P Lifton
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Nature genetics 2013;45(5):531-6.
2013: Jonathan L Levinsohn; Richard P Lifton; Erin S Loring; Shrikant M Mane; Jennifer M McNiff; Deepak Narayan; John D Overton; Amy S Paller; Jeffrey L Sugarman; Li C Tian; Annette M Wagner; Duri Yun; Richard J Antaya; Lynn M Boyden; Keith Choate
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
The Journal of investigative dermatology 2013;133(3):827-30.
2013: Kaya Bilguvar; Titus Boggon; Ahmet O Caglayan; Sreeganga S Chandra; Murim Choi; Sakir Delil; alp dincer; Ozdem Erturk; Arthur L Horwich; Michele H Johnson; Murat Karacorlu; Richard P Lifton; Angeliki Louvi; Shrikant M Mane; Cigdem Ozkara; Beyhan Tuysuz; Navneet K Tyagi; Cengiz Yalcinkaya; Mehmet Bakircioglu; Jacob F Baranoski; Murat Gunel
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(9):3489-94.
2012: Michael Krauthammer; Richard P Lifton; Roger S Lo; Shuangge Ma; Shrikant M Mane; Miguel A Materin; James P McCusker; Deepak Narayan; Joseph Schlessinger; David F Stern; Mario Sznol; Stephan Ariyan; Antonella Bacchiocchi; Titus J Boggon; Marcus W Bosenberg; Douglas E Brash; Ana Capatana; Elaine Cheng; Murim Choi; Matthew J Davis; Ken Dutton-Regester; Perry Evans; Gerald Goh; Byung Hak Ha; Nicholas K Hayward; Edna C Holman; Kenneth K Kidd; Harriet M Kluger; Yong Kong; Ruth Halaban
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Nature genetics 2012;44(9):1006-14.
2012: Sarah M Lo; Shrikant M Mane; Farzana Pashankar; Johannes M F G Aerts; Rolf G Boot; Murim Choi; Dhanpat Jain; Wouter W Kallemeijn; Gary M Kupfer; Richard P Lifton; Jun Liu; Pramod K Mistry
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
Blood 2012;119(20):4731-40.
2012: Stephan Sanders; Nenad Sestan; Youeun Song; Jason L Stein; Nicole A Teran; Michael F Walker; A Jeremy Willsey; Kaya Bilguvar; Robert D Bjornson; Nicholas Carriero; Murim Choi; Bernie Devlin; Nicholas M DiLullo; Paul El-Fishawy; A Gulhan Ercan-Sencicek; Daniel H Geschwind; Murat Günel; Abha R Gupta; Richard P Lifton; Shrikant M Mane; Kyle A Meyer; John D Murdoch; Michael T Murtha; Ryan C Murtha; Gordon T Ober; John D Overton; Neelroop N Parikshak; Melanie J Raubeson; Kathryn Roeder; Sate Matthew
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Nature 2012;485(7397):237-41.
2012: Thomas V Fernandez; Daniel O Fishman; Donald L Gilbert; Joseph Glessner; Murat Günel; Hakon Hakonarson; Gary A Heiman; Winson S C Ho; Pieter J Hoekstra; Young-Shin Kim; Robert A King; James F Leckman; Shrikant M Mane; Melanie J Raubeson; Stephan Sanders; Youeun Song; Kaya Bilguvar; Su Hee Chu; Bernie Devlin; A Gulhan Ercan-Sencicek; Jay A Tischfield; Katsuhito Yasuno; Ilana R Yurkiewicz; Sate Matthew
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
Biological psychiatry 2012;71(5):392-402.
2012: Lambertus Klei; David H Ledbetter; Catherine Lord; Jennifer K Lowe; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Nadine M Melhem; Daniel Moreno-De-Luca; Eric M Morrow; Michael T Murtha; Kathryn Roeder; Stephan J Sanders; Matthew W State; James S Sutcliffe; Christopher A Walsh; A Jeremy Willsey; Timothy W Yu; Eric Fombonne; Daniel Geschwind; Dorothy E Grice; Vanessa Hus; Pauline Chaste; Edwin H Cook; Bernie Devlin
Common genetic variants, acting additively, are a major source of risk for autism.
Molecular autism 2012;3(1):9.
2011: Katsuhito Yasuno; Hitoshi Zembutsu; Mehmet Bakırcıoğlu; Georg Auburger; Philippe Bijlenga; Kaya Bilgüvar; François Cambien; Emília Gaál; Akira Hata; Juha Hernesniemi; Ituro Inoue; Juha E Jääskeläinen; Hidetoshi Kasuya; Dietmar Krex; Boris Krischek; Richard P Lifton; Siew-Kee Low; Shrikant M Mane; Yusuke Nakamura; Mika Niemelä; Ali K Ozturk; Aarno Palotie; Gabriel J E Rinkel; Ynte M Ruigrok; Karl Schaller; Matthias Simon; Helmuth Steinmetz; Murat Günel
Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(49):19707-12.
2011: Kelly A Bordner; Becky Carlyle; Elizabeth D George; Robert R Kitchen; Milind C Mahajan; Shrikant M Mane; Jane R Taylor; Arthur A Simen
Parallel declines in cognition, motivation, and locomotion in aging mice: association with immune gene upregulation in the medial prefrontal cortex.
Experimental gerontology 2011;46(8):643-59.
2011: Tanyeri Barak; Kenneth Y Kwan; Angeliki Louvi; Veysi Demirbilek; Serap Saygı; Beyhan Tüysüz; Murim Choi; Hüseyin Boyacı; Katja Doerschner; Ying Zhu; Hande Kaymakçalan; Saliha Yılmaz; Mehmet Bakırcıoğlu; Ahmet Okay Cağlayan; Ali Kemal Oztürk; Katsuhito Yasuno; William J Brunken; Ergin Atalar; Cengiz Yalçınkaya; Alp Dinçer; Richard A Bronen; Shrikant M Mane; Tayfun Ozçelik; Richard P Lifton; Nenad Sestan; Kaya Bilgüvar; Murat Günel
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Nature genetics 2011;43(6):590-4.
2011: Murim Choi; Ute I Scholl; Peng Yue; Peyman Björklund; Bixiao Zhao; Carol Nelson-Williams; Weizhen Ji; Yoonsang Cho; Aniruddh Patel; Clara J Men; Elias Lolis; Max V Wisgerhof; David S Geller; Shrikant M Mane; Per Hellman; Gunnar Westin; Göran Åkerström; Wenhui Wang; Tobias Carling; Richard P Lifton
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
Science (New York, N.Y.) 2011;331(6018):768-72.
2011: Kelly A Bordner; Elizabeth D George; Becky C Carlyle; Alvaro Duque; Robert R Kitchen; Tukiet T Lam; Christopher M Colangelo; Kathryn L Stone; Thomas B Abbott; Shrikant M Mane; Angus C Nairn; Arthur A Simen
Functional genomic and proteomic analysis reveals disruption of myelin-related genes and translation in a mouse model of early life neglect.
Frontiers in psychiatry / Frontiers Research Foundation 2011;2():18.
2010: Pramod K Mistry; Jun Liu; Mei Yang; Timothy Nottoli; James McGrath; Dhanpat Jain; Kate Zhang; Joan Keutzer; Wei-Lien Chuang; Wajahat Z Mehal; Hongyu Zhao; Aiping Lin; Shrikant M Mane; Xuan Liu; Yuan Z Peng; Jian H Li; Manasi Agrawal; Ling-Ling Zhu; Harry C Blair; Lisa J Robinson; Jameel Iqbal; Li Sun; Wei-Lein Chuang; Mone Zaidi
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(45):19473-8.
2010: Daniel Cifuentes; Huiling Xue; David W Taylor; Heather Patnode; Yuichiro Mishima; Sihem Cheloufi; Enbo Ma; Shrikant M Mane; Gregory J Hannon; Nathan D Lawson; Scot A Wolfe; Antonio J Giraldez
A novel miRNA processing pathway independent of Dicer requires Argonaute2 catalytic activity.
Science (New York, N.Y.) 2010;328(5986):1694-8.
2010: A Gulhan Ercan-Sencicek; Althea A Stillman; Ananda K Ghosh; Kaya Bilguvar; Brian J O'Roak; Christopher E Mason; Thomas Abbott; Abha Gupta; Robert A King; David L Pauls; Jay A Tischfield; Gary A Heiman; Harvey S Singer; Donald L Gilbert; Pieter J Hoekstra; Thomas M Morgan; Erin Loring; Katsuhito Yasuno; Thomas V Fernandez; Stephan Sanders; Angeliki Louvi; Judy H Cho; Shrikant M Mane; Christopher M Colangelo; Thomas Biederer; Richard P Lifton; Murat Gunel; Sate Matthew
L-histidine decarboxylase and Tourette's syndrome.
The New England journal of medicine 2010;362(20):1901-8.
2009: Fatih Bayrakli; Ilter Guney; Yasar Bayri; Adife Gulhan Ercan-Sencicek; Dogan Ceyhan; Tufan Cankaya; Christopher Mason; Kaya Bilguvar; Sengul Bayrakli; Shrikant M Mane; Sate Matthew; Murat Gunel
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2009;16(12):1610-4.
2009: Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; AHMET NAYIR; Ayşin Bakkaloğlu; Seza Ozen; Sami A Sanjad; Carol Nelson-Williams; anita farhi; Shrikant M Mane; Richard P Lifton
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(45):19096-101.
2009: Matthew B Johnson; Yuka Imamura Kawasawa; Christopher E Mason; Zeljka Krsnik; Giovanni Coppola; Darko Bogdanović; Daniel Geschwind; Shrikant M Mane; Sate Matthew; Nenad Sestan
Functional and evolutionary insights into human brain development through global transcriptome analysis.
Neuron 2009;62(4):494-509.
2009: Ignat Drozdov; Mark Kidd; Boaz Nadler; Robert L Camp; Shrikant M Mane; Oyvind Hauso; Bjorn I Gustafsson; Irvin M Modlin
Predicting neuroendocrine tumor (carcinoid) neoplasia using gene expression profiling and supervised machine learning.
Cancer 2009;115(8):1638-50.
2009: Ee-Chun Cheng; Qing Luo; Emanuela Bruscia; Matthew J Renda; James A Troy; Stephanie Massaro; David Tuck; Vincent Schulz; Shrikant M Mane; Nancy Berliner; Yi Sun; Stephan W Morris; Caihong Qiu; Diane S Krause
Role for MKL1 in megakaryocytic maturation.
Blood 2009;113(12):2826-34.
2009: Rungnapa Hirunsatit; Elizabeth D George; Barbara K Lipska; Hani M Elwafi; Lisa Sander; Carolyn M Yrigollen; Joel Gelernter; Elena L Grigorenko; Jaakko Lappalainen; Shrikant M Mane; Angus Nairn; Joel E Kleinman; Arthur A Simen
Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity.
Pharmacogenetics and genomics 2009;19(1):53-65.
2008: Kaya Bilguvar; Katsuhito Yasuno; Mika Niemelä; Ynte M Ruigrok; Mikael von Und Zu Fraunberg; C.M. Duijn; Leonard H van den Berg; Shrikant M Mane; Christopher E Mason; Murim Choi; Emília Gaál; Yasar Bayri; Luis Kolb; Zulfikar Arlier; Sudhakar Ravuri; Antti Ronkainen; Atsushi Tajima; Aki Laakso; Akira Hata; Hidetoshi Kasuya; Timo Koivisto; Jaakko Rinne; Juha Ohman; Monique Breteler; cisca wijmenga; Sate Matthew; Gabriel J E Rinkel; Juha Hernesniemi; Juha E Jääskeläinen; Aarno Palotie; Ituro Inoue; Richard P Lifton; Murat Günel
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
Nature genetics 2008;40(12):1472-7.
2008: John C Marioni; Christopher E Mason; Shrikant M Mane; Matthew Stephens; Yoav Gilad
RNA-seq: an assessment of technical reproducibility and comparison with gene expression arrays.
Genome research 2008;18(9):1509-17.
2008: Makoto Yono; Shrikant M Mane; Aiping Lin; Robert M Weiss; Jamshid Latifpour
Differential effects of diabetes induced by streptozotocin and that develops spontaneously on prostate growth in Bio Breeding (BB) rats.
Life sciences 2008;83(5-6):192-7.
2007: Kathryn L Stone; Robert D Bjornson; Gregory G Blasko; Can Bruce; Renee Cofrancesco; Nicholas Carriero; Christopher M Colangelo; Janet K Crawford; J Myron Crawford; Nancy C daSilva; Joseph D Deluca; James I Elliott; Margaret M Elliott; P John Flory; Ewa J Folta-Stogniew; Erol Gulcicek; Yong Kong; Tukiet T Lam; Ji Y Lee; Aiping Lin; Mary B LoPresti; Shrikant M Mane; Walter J McMurray; Irina R Tikhonova; Sheila Westman; Nancy A Williams; Terence L Wu; Zhao Hongyu; Kenneth R Williams
Keck Foundation Biotechnology Resource Laboratory, Yale University.
The Yale journal of biology and medicine 2007;80(4):195-211.
2007: Fatih Bayrakli; Kaya Bilguvar; Christopher E Mason; Michael L DiLuna; Yasar Bayri; Levent Gungor; Murat Terzi; Shrikant M Mane; Richard P Lifton; Sate Matthew; Murat Gunel
Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.
Human mutation 2007;28(12):1236-40.
2007: Mark Kidd; Irvin M Modlin; Michael D Shapiro; Robert L Camp; Shrikant M Mane; W Usinger; John R Murren
CTGF, intestinal stellate cells and carcinoid fibrogenesis.
World journal of gastroenterology : WJG 2007;13(39):5208-16.
2007: Mark Kidd; Boaz Nadler; Shrikant M Mane; Geeta Eick; Maximillian Malfertheiner; Manish C Champaneria; Roswitha Pfragner; Irvin M Modlin
GeneChip, geNorm, and gastrointestinal tumors: novel reference genes for real-time PCR.
Physiological genomics 2007;30(3):363-70.
2007: Mark Kidd; Irvin M Modlin; Roswitha Pfragner; Geeta Eick; Manish C Champaneria; Anthony K C Chan; Robert L Camp; Shrikant M Mane
Small bowel carcinoid (enterochromaffin cell) neoplasia exhibits transforming growth factor-beta1-mediated regulatory abnormalities including up-regulation of C-Myc and MTA1.
Cancer 2007;109(12):2420-31.
2007: Arya Mani; Jayaram Radhakrishnan; He Wang; Alaleh Mani; Mohammad-Ali Mani; Carol Nelson-Williams; Khary S Carew; Shrikant M Mane; Hossein Najmabadi; Dianqing Wu; Richard P Lifton
LRP6 mutation in a family with early coronary disease and metabolic risk factors.
Science (New York, N.Y.) 2007;315(5816):1278-82.
2007: Tih-Shih Lee; Shrikant M Mane; Tore Eid; Hongyu Zhao; Aiping Lin; Zhong Guan; Jung H Kim; Jeffrey Schweitzer; David King-Stevens; Peter Weber; Susan S Spencer; Dennis D Spencer; Nihal C de Lanerolle
Gene expression in temporal lobe epilepsy is consistent with increased release of glutamate by astrocytes.
Molecular medicine (Cambridge, Mass.) 2007;13(1-2):1-13.
2007: Mark Kidd; Irvin M Modlin; Geeta Eick; Robert L Camp; Shrikant M Mane
Role of CCN2/CTGF in the proliferation of Mastomys enterochromaffin-like cells and gastric carcinoid development.
American journal of physiology. Gastrointestinal and liver physiology 2007;292(1):G191-200.
2006: Irvin M Modlin; Mark Kidd; Igor Latich; Michelle Nabulumba Zikusoka; Geeta Eick; Shrikant M Mane; Robert L Camp
Genetic differentiation of appendiceal tumor malignancy: a guide for the perplexed.
Annals of surgery 2006;244(1):52-60.
2006: Mark Kidd; Irvin M Modlin; Shrikant M Mane; Robert L Camp; Geeta Eick; Igor Latich; Michelle Nabulumba Zikusoka
Utility of molecular genetic signatures in the delineation of gastric neoplasia.
Cancer 2006;106(7):1480-8.
2006: Mark Kidd; Irvin M Modlin; Shrikant M Mane; Robert L Camp; Michael D Shapiro
Q RT-PCR detection of chromogranin A: a new standard in the identification of neuroendocrine tumor disease.
Annals of surgery 2006;243(2):273-80.
2006: Mark Kidd; Irvin M Modlin; Shrikant M Mane; Robert L Camp; Geeta Eick; Igor Latich
The role of genetic markers--NAP1L1, MAGE-D2, and MTA1--in defining small-intestinal carcinoid neoplasia.
Annals of surgical oncology 2006;13(2):253-62.
2005: Makoto Yono; Harris E Foster; David Shin; Shrikant M Mane; Jamshid Latifpour
Molecular classification of doxazosin-induced alterations in the rat prostate using gene expression profiling.
Life sciences 2005;77(4):470-9.
2005: Robert J. Klein; Caroline J Zeiss; Emily Y Chew; Jen-Yue Tsai; Richard S Sackler; Chad Haynes; Alice K Henning; John Paul SanGiovanni; Shrikant M Mane; Susan T Mayne; Michael B Bracken; Frederick L Ferris; Jurg Ott; Colin J Barnstable; Josephine Hoh
Complement factor H polymorphism in age-related macular degeneration.
Science (New York, N.Y.) 2005;308(5720):385-9.
2005: Mark Kidd; Geeta Eick; Michael D Shapiro; Robert L Camp; Shrikant M Mane; Irvin M Modlin
Microsatellite instability and gene mutations in transforming growth factor-beta type II receptor are absent in small bowel carcinoid tumors.
Cancer 2005;103(2):229-36.
2004: Mark Kidd; Toshi Hinoue; Geeta Eick; Kevin D Lye; Shrikant M Mane; Y Wen; Irvin M Modlin
Global expression analysis of ECL cells in Mastomys natalensis gastric mucosa identifies alterations in the AP-1 pathway induced by gastrin-mediated transformation.
Physiological genomics 2004;20(1):131-42.
2004: Tih-Shih Lee; Tore Eid; Shrikant M Mane; Jung H Kim; Dennis D Spencer; Ole Petter Ottersen; Nihal C de Lanerolle
Aquaporin-4 is increased in the sclerotic hippocampus in human temporal lobe epilepsy.
Acta neuropathologica 2004;108(6):493-502.
2004: Kei-Hoi Cheung; Janet Hager; Deyun Pan; Ranjana Srivastava; Shrikant M Mane; Yuli Li; Perry Miller; Kenneth R Williams
KARMA: a web server application for comparing and annotating heterogeneous microarray platforms.
Nucleic acids research 2004;32(Web Server issue):W441-4.
2003: Ravi Kothapalli; Ratna D Bailey; Irina Kusmartseva; Shrikant M Mane; Pearlie K Epling-Burnette; Thomas P Loughran
Constitutive expression of cytotoxic proteases and down-regulation of protease inhibitors in LGL leukemia.
International journal of oncology 2003;22(1):33-9.
2002: Ravi Kothapalli; Sean J Yoder; Shrikant M Mane; Thomas P Loughran
Microarray results: how accurate are they?
BMC bioinformatics 2002;3():22.
2002: John C M Tsibris; James H Segars; Domenico Coppola; Shrikant M Mane; George D Wilbanks; William F O'Brien; William N Spellacy
Insights from gene arrays on the development and growth regulation of uterine leiomyomata.
Fertility and sterility 2002;78(1):114-21.
2002: Emmanuel N Lazaridis; Dominic Sinibaldi; Gregory C Bloom; Shrikant M Mane; Richard Jove
A simple method to improve probe set estimates from oligonucleotide arrays.
Mathematical biosciences 2002;176(1):53-8.
2002: Jay F Dorsey; Jess M Cunnick; Shrikant M Mane; Jie Wu
Regulation of the Erk2-Elk1 signaling pathway and megakaryocytic differentiation of Bcr-Abl(+) K562 leukemic cells by Gab2.
Blood 2002;99(4):1388-97.
1990: S Bantia; Shrikant M Mane; William R Bell; Chi Dang
Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly----Val (GGC----GTC) mutation.
Blood 1990;76(11):2279-83.