Irfan Saadi

Irfan Saadi

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Irfan Saadi

Irfan Saadi

Publications by authors named "Irfan Saadi"

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A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.

Authors:
Jenna C Carlson Deepti Anand Azeez Butali Carmen J Buxo Kaare Christensen Frederic Deleyiannis Jacqueline T Hecht Lina M Moreno Ieda M Orioli Carmencita Padilla John R Shaffer Alexandre R Vieira George L Wehby Seth M Weinberg Jeffrey C Murray Terri H Beaty Irfan Saadi Salil A Lachke Mary L Marazita Eleanor Feingold Elizabeth J Leslie

Genet Epidemiol 2019 09 6;43(6):704-716. Epub 2019 Jun 6.

Department of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, Georgia.

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http://dx.doi.org/10.1002/gepi.22214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687557PMC
September 2019

RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery.

Authors:
Deepti Anand Atul Kakrana Archana D Siddam Hongzhan Huang Irfan Saadi Salil A Lachke

Hum Genet 2018 Dec 11;137(11-12):941-954. Epub 2018 Nov 11.

Department of Biological Sciences, University of Delaware, 105 The Green, Delaware Avenue, 236 Wolf Hall, Newark, DE, 19716, USA.

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http://dx.doi.org/10.1007/s00439-018-1958-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342005PMC
December 2018

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Authors:
Elizabeth J Bhoj Damien Haye Annick Toutain Dominique Bonneau Irene Kibæk Nielsen Ida Bay Lund Pauline Bogaard Stine Leenskjold Kadri Karaer Katherine T Wild Katheryn L Grand Mirena C Astiazaran Luis A Gonzalez-Nieto Ana Carvalho Daphné Lehalle Shivarajan M Amudhavalli Elena Repnikova Carol Saunders Isabelle Thiffault Irfan Saadi Dong Li Hakon Hakonarson Yoann Vial Elaine Zackai Patrick Callier Séverine Drunat Alain Verloes

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183046
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http://dx.doi.org/10.1016/j.ejmg.2018.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594898PMC
November 2018

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Authors:
Huan Liu Tamara Busch Steven Eliason Deepti Anand Steven Bullard Lord J J Gowans Nichole Nidey Aline Petrin Eno-Abasi Augustine-Akpan Irfan Saadi Martine Dunnwald Salil A Lachke Ying Zhu Adebowale Adeyemo Brad Amendt Tony Roscioli Robert Cornell Jeffrey Murray Azeez Butali

Birth Defects Res 2017 01;109(1):27-37

Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, U.S.A.

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http://dx.doi.org/10.1002/bdra.23596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388577PMC
January 2017

SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination.

Authors:
Nathan R Wilson Adam J Olm-Shipman Diana S Acevedo Kanagaraj Palaniyandi Everett G Hall Edina Kosa Kelly M Stumpff Guerin J Smith Lenore Pitstick Eric C Liao Bryan C Bjork Andras Czirok Irfan Saadi

Sci Rep 2016 Jan 20;6:17735. Epub 2016 Jan 20.

Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA.

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http://dx.doi.org/10.1038/srep17735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726231PMC
January 2016

THPO-MPL pathway and bone marrow failure.

Authors:
Majed Dasouki Irfan Saadi Syed O Ahmed

Hematol Oncol Stem Cell Ther 2015 Mar 29;8(1):6-9. Epub 2014 Nov 29.

Adult Hematology/Bone Marrow Transplantation, Oncology Center, MBC-64, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.hemonc.2014.11.005DOI Listing
March 2015

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Authors:
Paul Kruszka Dong Li Margaret H Harr Nathan R Wilson Daniel Swarr Elizabeth M McCormick Rosetta M Chiavacci Mindy Li Ariel F Martinez Rachel A Hart Donna M McDonald-McGinn Matthew A Deardorff Marni J Falk Judith E Allanson Cindy Hudson John P Johnson Irfan Saadi Hakon Hakonarson Maximilian Muenke Elaine H Zackai

J Med Genet 2015 Feb 20;52(2):104-10. Epub 2014 Nov 20.

Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393015PMC
February 2015

Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.

Authors:
Majed Dasouki Jennifer Roberts Angela Santiago Irfan Saadi Karine Hovanes

Eur J Med Genet 2014 Feb 22;57(2-3):76-80. Epub 2014 Jan 22.

CombiMatrix Diagnostics, Irvine, CA, USA.

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http://dx.doi.org/10.1016/j.ejmg.2013.12.007DOI Listing
February 2014

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

Authors:
Majed J Dasouki Syed K Rafi Adam J Olm-Shipman Nathan R Wilson Sunil Abhyankar Brigitte Ganter L Mike Furness Jianwen Fang Rodrigo T Calado Irfan Saadi

Blood 2013 Nov 1;122(20):3440-9. Epub 2013 Oct 1.

Department of Pediatrics.

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http://dx.doi.org/10.1182/blood-2012-12-473538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829117PMC
November 2013

Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development.

Authors:
Irfan Saadi Pragnya Das Minglian Zhao Lakshmi Raj Intan Ruspita Yan Xia Virginia E Papaioannou Marianna Bei

Development 2013 Jul 29;140(13):2697-702. Epub 2013 May 29.

Center for Regenerative and Developmental Biology, The Forsyth Institute, Cambridge, MA 02142, USA.

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http://dx.doi.org/10.1242/dev.088393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678339PMC
July 2013

Protein inhibitors of activated STAT (Pias1 and Piasy) differentially regulate pituitary homeobox 2 (PITX2) transcriptional activity.

Authors:
Jianbo Wang Zhao Sun Zichao Zhang Irfan Saadi Jun Wang Xiao Li Shan Gao Jamison J Engle Adisa Kuburas Xueyao Fu Wenjie Yu William H Klein Andrew F Russo Brad A Amendt

J Biol Chem 2013 May 20;288(18):12580-95. Epub 2013 Mar 20.

Institute of Biosciences and Technology, Texas A&M University Health Science Center, Houston, Texas 77030, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M112.374561
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http://dx.doi.org/10.1074/jbc.M112.374561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642306PMC
May 2013

The cell adhesion gene PVRL3 is associated with congenital ocular defects.

Authors:
Salil A Lachke Anne W Higgins Maiko Inagaki Irfan Saadi Qiongchao Xi Michelle Long Bradley J Quade Michael E Talkowski James F Gusella Atsuko Fujimoto Michael L Robinson Ying Yang Quynh T Duong Irit Shapira Benny Motro Jun Miyoshi Yoshimi Takai Cynthia C Morton Richard L Maas

Hum Genet 2012 Feb 17;131(2):235-50. Epub 2011 Jul 17.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s00439-011-1064-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279124PMC
February 2012

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Authors:
Irfan Saadi Fowzan S Alkuraya Stephen S Gisselbrecht Wolfram Goessling Resy Cavallesco Annick Turbe-Doan Aline L Petrin James Harris Ursela Siddiqui Arthur W Grix Hanne D Hove Philippe Leboulch Thomas W Glover Cynthia C Morton Antonio Richieri-Costa Jeffrey C Murray Robert P Erickson Richard L Maas

Am J Hum Genet 2011 Jul 23;89(1):44-55. Epub 2011 Jun 23.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.05.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135813PMC
July 2011

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

Authors:
Salil A Lachke Fowzan S Alkuraya Stephen C Kneeland Takbum Ohn Anton Aboukhalil Gareth R Howell Irfan Saadi Resy Cavallesco Yingzi Yue Anne C-H Tsai K Saidas Nair Mihai I Cosma Richard S Smith Emily Hodges Suad M Alfadhli Amal Al-Hajeri Hanan E Shamseldin Abdulmutalib Behbehani Gregory J Hannon Martha L Bulyk Arlene V Drack Paul J Anderson Simon W M John Richard L Maas

Science 2011 Mar;331(6024):1571-6

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1195970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279122PMC
March 2011

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood.

Authors:
Xiu-Ping Wang Daniel J O'Connell Jennifer J Lund Irfan Saadi Mari Kuraguchi Annick Turbe-Doan Resy Cavallesco Hyunsoo Kim Peter J Park Hidemitsu Harada Raju Kucherlapati Richard L Maas

Development 2009 Jun;136(11):1939-49

Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dev.biologists.org/cgi/doi/10.1242/dev.033803
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http://dx.doi.org/10.1242/dev.033803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680115PMC
June 2009

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Authors:
Anne W Higgins Fowzan S Alkuraya Amy F Bosco Kerry K Brown Gail A P Bruns Diana J Donovan Robert Eisenman Yanli Fan Chantal G Farra Heather L Ferguson James F Gusella David J Harris Steven R Herrick Chantal Kelly Hyung-Goo Kim Shotaro Kishikawa Bruce R Korf Shashikant Kulkarni Eric Lally Natalia T Leach Emma Lemyre Janine Lewis Azra H Ligon Weining Lu Richard L Maas Marcy E MacDonald Steven D P Moore Roxanna E Peters Bradley J Quade Fabiola Quintero-Rivera Irfan Saadi Yiping Shen Jay Shendure Robin E Williamson Cynthia C Morton

Am J Hum Genet 2008 Mar;82(3):712-22

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ajhg.2008.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427206PMC
March 2008

SUMO1 haploinsufficiency leads to cleft lip and palate.

Authors:
Fowzan S Alkuraya Irfan Saadi Jennifer J Lund Annick Turbe-Doan Cynthia C Morton Richard L Maas

Science 2006 Sep;313(5794):1751

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, NRB-458, 77 Louis Pasteur, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1128406DOI Listing
September 2006

An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.

Authors:
Irfan Saadi Rafael Toro Adisa Kuburas Elena Semina Jeffrey C Murray Andrew F Russo

Birth Defects Res A Clin Mol Teratol 2006 Mar;76(3):175-81

Genetics Program, University of Iowa, Iowa City, Iowa 52242-1109, USA.

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http://dx.doi.org/10.1002/bdra.20226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023635PMC
March 2006

Cell-specific activation of the atrial natriuretic factor promoter by PITX2 and MEF2A.

Authors:
Rafael Toro Irfan Saadi Adisa Kuburas Mona Nemer Andrew F Russo

J Biol Chem 2004 Dec 1;279(50):52087-94. Epub 2004 Oct 1.

Genetics Program, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1074/jbc.M404802200DOI Listing
December 2004

Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome.

Authors:
Irfan Saadi Adisa Kuburas Jamison J Engle Andrew F Russo

Mol Cell Biol 2003 Mar;23(6):1968-82

Genetics Progra, University of Iowa, Iowa City, IA 52242, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC149458PMC
http://dx.doi.org/10.1128/mcb.23.6.1968-1982.2003DOI Listing
March 2003