Pedro A Sanchez-Lara

Pedro A Sanchez-Lara

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Pedro A Sanchez-Lara

Pedro A Sanchez-Lara

Publications by authors named "Pedro A Sanchez-Lara"

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Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

J Pediatr 2019 Aug 10;211:207-210. Epub 2019 May 10.

Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.04.022DOI Listing
August 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Genomic analyses in African populations identify novel risk loci for cleft palate.

Hum Mol Genet 2019 Mar;28(6):1038-1051

Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddy402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400042PMC
March 2019

Risk Factors for Preoperative Developmental Delay in Patients with Nonsyndromic Sagittal Craniosynostosis.

Plast Reconstr Surg 2019 01;143(1):133e-139e

New York, N.Y.; and Los Angeles, Calif. From the Division of Plastic Surgery, New York Presbyterian Hospital-Columbia University Medical Center; the Divisions of Plastic and Maxillofacial Plastic Surgery and Neurosurgery, Children's Hospital Los Angeles; the Departments of Pediatrics, Neurological Surgery, and Pathology and Laboratory Medicine, and the Division of Plastic and Reconstructive Surgery, Keck School of Medicine at the University of Southern California.

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http://dx.doi.org/10.1097/PRS.0000000000005108DOI Listing
January 2019

Proteus Syndrome With a Cranial Intraosseous Lipoma.

J Craniofac Surg 2017 Nov;28(8):e771-e773

*Division of Plastic and Reconstructive Surgery, Keck School of Medicine at University of Southern California, Los Angeles, CA †Division of Plastic Surgery, New York Presbyterian Hospital-Columbia University Medical Center, New York, NY ‡Division of Neurosurgery, Children's Hospital Los Angeles §Department of Neurological Surgery ||Department of Pathology and Pediatrics, Keck School of Medicine ¶Center for Craniofacial Molecular Biology, University of Southern California #Division of Genomic Medicine, Center for Personalized Medicine **Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA.

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http://dx.doi.org/10.1097/SCS.0000000000003959DOI Listing
November 2017

X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female.

J Bone Metab 2017 Nov 30;24(4):257-261. Epub 2017 Nov 30.

Center for Endocrinology, Diabetes and Metabolism, Division of Endocrinology, Children's Hospital Los Angeles, Los Angeles, CA, USA.

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https://synapse.koreamed.org/DOIx.php?id=10.11005/jbm.2017.2
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http://dx.doi.org/10.11005/jbm.2017.24.4.257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734952PMC
November 2017

The Prevalence of Congenital Heart Disease in Nonsyndromic Cleft Lip and/or Palate: A Systematic Review of the Literature.

Ann Plast Surg 2017 Aug;79(2):214-220

From the *Division of Plastic and Reconstructive Surgery, Keck School of Medicine of the University of Southern California, †Division of Plastic and Reconstructive Surgery, Children's Hospital Los Angeles; ‡Department of Pathology & Laboratory Medicine and Pediatrics, Keck School of Medicine of the University of Southern California; §Center for Personalized Medicine, and ∥Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA.

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http://dx.doi.org/10.1097/SAP.0000000000001069DOI Listing
August 2017

Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear.

Sci Rep 2017 05 31;7(1):2497. Epub 2017 May 31.

Eli and Edythe Broad CIRM Center for Stem Cell Biology and Regenerative Medicine, University of Southern California, Los Angeles, CA, 90033, USA.

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http://dx.doi.org/10.1038/s41598-017-02574-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451394PMC
May 2017

Clinical and Genomic Approaches for the Diagnosis of Craniofacial Disorders.

Curr Top Dev Biol 2015 26;115:543-59. Epub 2015 Oct 26.

Director of Craniofacial Genetics, Children's Hospital Los Angeles, Los Angeles, California, USA; Assistant Professor of Clinical Pediatrics, University of Southern California, Los Angeles, California, USA; Assistant Professor of Clinical Pathology, University of Southern California, Los Angeles, California, USA; Research Instructor Center for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, California, USA. Electronic address:

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http://dx.doi.org/10.1016/bs.ctdb.2015.09.004DOI Listing
September 2016

Generation and characterization of tamoxifen-inducible Pax9-CreER knock-in mice using CrispR/Cas9.

Genesis 2016 09 26;54(9):490-6. Epub 2016 Jul 26.

Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA, 90033, USA.

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http://dx.doi.org/10.1002/dvg.22956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021577PMC
September 2016

Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition.

J Pediatr 2016 08 8;175:216-223.e1. Epub 2016 Jun 8.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA; Departments of Pathology and Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA.

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http://dx.doi.org/10.1016/j.jpeds.2016.04.061DOI Listing
August 2016

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

J Mol Diagn 2016 07 4;18(4):480-93. Epub 2016 May 4.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, USC Roski Eye Institute, University of Southern California, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820122PMC
July 2016

Integration of comprehensive 3D microCT and signaling analysis reveals differential regulatory mechanisms of craniofacial bone development.

Dev Biol 2015 Apr 23;400(2):180-90. Epub 2015 Feb 23.

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00121606150006
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http://dx.doi.org/10.1016/j.ydbio.2015.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385433PMC
April 2015

Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.

Am J Med Genet A 2014 Oct 5;164A(10):2572-80. Epub 2014 Aug 5.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36693DOI Listing
October 2014

A model for interprofessional health care: lessons learned from craniofacial teams.

J Calif Dent Assoc 2014 Sep;42(9):637-44

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September 2014

TGFβ regulates epithelial-mesenchymal interactions through WNT signaling activity to control muscle development in the soft palate.

Development 2014 Feb;141(4):909-17

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA.

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http://dev.biologists.org/cgi/doi/10.1242/dev.103093
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http://dx.doi.org/10.1242/dev.103093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912833PMC
February 2014

Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice.

Hum Mol Genet 2014 Jan 23;23(1):182-93. Epub 2013 Aug 23.

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry and.

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http://dx.doi.org/10.1093/hmg/ddt410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857953PMC
January 2014

Erratum: Impact of stem cells in craniofacial regenerative medicine.

Front Physiol 2013 29;4:219. Epub 2013 Aug 29.

Departments of Pediatrics and Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California Los Angeles, CA, USA.

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http://dx.doi.org/10.3389/fphys.2013.00219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756300PMC
August 2013

Extrinsic factors influencing fetal deformations and intrauterine growth restriction.

J Pregnancy 2012 19;2012:750485. Epub 2012 Jul 19.

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry and Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, 4650 Sunset Boulevard, MS 90, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1155/2012/750485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409542PMC
July 2013

Smad4-Irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice.

Development 2013 Mar 13;140(6):1220-30. Epub 2013 Feb 13.

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA.

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http://dx.doi.org/10.1242/dev.089615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585659PMC
March 2013

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Hum Mutat 2012 Dec 13;33(12):1626-9. Epub 2012 Aug 13.

Section of Genetics, Department of Pediatrics, University of California-Davis, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1002/humu.22166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495992PMC
December 2012

Impact of stem cells in craniofacial regenerative medicine.

Front Physiol 2012 21;3:188. Epub 2012 Jun 21.

Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California Los Angeles, CA, USA.

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http://dx.doi.org/10.3389/fphys.2012.00188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380335PMC
October 2012

Hypertrophic scarring in cleft lip repair: a comparison of incidence among ethnic groups.

Clin Epidemiol 2012 26;4:187-91. Epub 2012 Jul 26.

Division of Plastic and Maxillofacial Surgery at Children's Hospital Los Angeles, CA, USA; The Division of Plastic and Reconstructive Surgery at the Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.

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http://dx.doi.org/10.2147/CLEP.S31119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413167PMC
October 2012

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Am J Med Genet A 2012 Aug 18;158A(8):1865-76. Epub 2012 Jun 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402612PMC
August 2012

Bilateral maxillary duplication: case report and literature review.

Oral Surg Oral Med Oral Pathol Oral Radiol 2012 May 16;113(5):e29-32. Epub 2011 Sep 16.

Craniofacial Orthodontics, Division of Dentistry, Children's Hospital Los Angeles, California 90027, USA.

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http://dx.doi.org/10.1016/j.tripleo.2011.06.017DOI Listing
May 2012

Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice.

J Clin Invest 2012 Mar 13;122(3):873-85. Epub 2012 Feb 13.

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, California 90033, USA.

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http://www.jci.org/articles/view/61498
Publisher Site
http://dx.doi.org/10.1172/JCI61498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287237PMC
March 2012

Neonatal and infant mandibular distraction as an alternative to tracheostomy in severe obstructive sleep apnea.

Cleft Palate Craniofac J 2012 Jan 30;49(1):32-8. Epub 2010 Nov 30.

Keck School of Medicine of University of Southern California, Children's Hospital Los Angeles, Plastic Surgery #96, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1597/10-069DOI Listing
January 2012

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

Mol Genet Metab 2011 Feb 30;102(2):149-52. Epub 2010 Oct 30.

Division of Medical Genetics, Children's Hospital Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.014DOI Listing
February 2011

Fetal constraint as a potential risk factor for craniosynostosis.

Am J Med Genet A 2010 Feb;152A(2):394-400

Children's Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California 90027, USA.

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http://dx.doi.org/10.1002/ajmg.a.33246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815148PMC
February 2010

The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.

Am J Med Genet A 2007 Dec;143A(24):3243-51

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.32073DOI Listing
December 2007

A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000.

Am J Med Genet A 2007 Dec;143A(24):3107-20

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.32094DOI Listing
December 2007

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

Am J Hum Genet 2006 Jul 10;79(1):169-73. Epub 2006 May 10.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1086/505332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474136PMC
July 2006