P. Sanchez-Lara

发表

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

R. Pelikan, J. Iwata, A. Suzuki, 2013, Development.

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

S. D. Davidson Ward, P. Sanchez-Lara, Naikhoba C. O. Munabi, 2017, Annals of plastic surgery.

Paternal Risk Factors for Oral Clefts in Northern Africans, Southeast Asians, and Central Americans

P. Sanchez-Lara, J. Figueiredo, Y. DeClerck, 2017, International journal of environmental research and public health.

Fetal constraint as a potential risk factor for craniosynostosis

G. Shaw, S. Rasmussen, J. Graham, 2010, American journal of medical genetics. Part A.

Transforming Growth Factor-β Regulates Basal Transcriptional Regulatory Machinery to Control Cell Proliferation and Differentiation in Cranial Neural Crest-derived Osteoprogenitor Cells*

H. Slavkin, J. Iwata, P. Sanchez-Lara, 2009, The Journal of Biological Chemistry.

Congenital Heart Disease in Patients With Cleft Lip/Palate and Its Impact on Cleft Management

S. D. Davidson Ward, P. Sanchez-Lara, Naikhoba C. O. Munabi, 2020, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

B. Torchia, L. Shaffer, B. Bejjani, 2011, American journal of medical genetics. Part A.

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

R. Pelikan, J. Iwata, A. Suzuki, 2014, Development.

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

J. Iwata, T. Ho, P. Sanchez-Lara, 2015, Developmental biology.

Neural Crest Stem Cell: Tissue Regeneration and Repair

P. Sanchez-Lara, Hu Zhao, 2014 .

Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate

T. Ho, P. Sanchez-Lara, Y. Chai, 2017, Human molecular genetics.

Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

I. Glass, J. Allanson, K. Millen, 2012, American journal of medical genetics. Part A.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder

P. Sanchez-Lara, Christine F. Stafford, 2022, Genes.

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

T. Liehr, P. Sanchez-Lara, Jia-Chi Wang, 2014, European Journal of Human Genetics.

Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

I. Krantz, P. Sanchez-Lara, D. Piccoli, 2013 .

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

P. Sanchez-Lara, Alaina P. Vidmar, P. Pitukcheewanont, 2017, Journal of bone metabolism.

Reintroduction of Diazoxide after Diagnosis of Pulmonary Hypertension in a Patient with Transient Hyperinsulinism

P. Sanchez-Lara, P. Nawathe, B. Schweiger, 2021, Journal of Child Science.

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

S. Nelson, V. Kimonis, P. Sanchez-Lara, 2021, Journal of Medical Genetics.

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

R. Pelikan, J. Iwata, A. Suzuki, 2014, Human molecular genetics.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Disruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence

R. Pelikan, P. Sanchez-Lara, Y. Chai, 2015, Development.

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

A. Panigrahy, H. Shimada, P. Sanchez-Lara, 2012, BMC Medical Genetics.

Failure to thrive in an 8-month-old female: Answers

P. Sanchez-Lara, Romina Kim, Sanjeev Kumar, 2022, Pediatric Nephrology.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia

P. Sanchez-Lara, R. Burwick, S. Govindappagari, 2020, Journal of clinical ultrasound : JCU.

ALX4 gain‐of‐function mutations in nonsyndromic craniosynostosis

J. Stoler, V. Kimonis, M. Cunningham, 2012, Human mutation.

Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21

P. Sanchez-Lara, Celeste C. Eno, R. Schreck, 2021, Cold Spring Harbor molecular case studies.

Automated syndrome diagnosis by three-dimensional facial imaging

David C. Katz, Jordan J. Bannister, Jacinda R. Larson, 2020, Genetics in Medicine.

Characterization of sleep habits of children with Sotos syndrome

P. Sanchez-Lara, Carrie Ward, S. Ward, 2021, American journal of medical genetics. Part A.

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

J. Graham, M. Cunningham, P. Sanchez-Lara, 2007, American journal of medical genetics. Part A.

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

J. Samet, G. Casey, D. J. Van Den Berg, 2014, American journal of medical genetics. Part A.

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

E. Zackai, B. Harding, J. Graham, 2007, American journal of medical genetics. Part A.

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development

P. Sanchez-Lara, Zhiyu Qian, A. Freedman, 2021, American journal of medical genetics. Part A.

An Unusual Accessory Mandible and a Submucosal Cleft Palate—A Case Report and Review of the Literature

P. Sanchez-Lara, A. Borzabadi-Farahani, S. Yen, 2013, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.

E. Farrow, P. Sanchez-Lara, V. Allareddy, 2019, Orthodontics & craniofacial research.

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.

P. Kaplan, J. Ganesh, N. Spinner, 2008, Molecular genetics and metabolism.

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

N. Segil, P. Sanchez-Lara, Juan Llamas, 2017, Scientific Reports.

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

I. Krantz, N. Spinner, Ryan McDaniell, 2006, American journal of human genetics.

Clinical and Genomic Approaches for the Diagnosis of Craniofacial Disorders.

P. Sanchez-Lara, 2015, Current topics in developmental biology.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Angeliki Pantazi, Nikolaos A Patsopoulos, Ignaty Leshchiner, 2018, npj Genomic Medicine.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012, Nature Genetics.

A genome wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP 2 and within BBS 9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012 .

Extrinsic Factors Influencing Fetal Deformations and Intrauterine Growth Restriction

J. Graham, P. Sanchez-Lara, I. Wadhawan, 2012, Journal of pregnancy.

Smith's Recognizable Patterns of Human Deformation

P. Sanchez-Lara, J. Graham, 1988 .

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

J. Graham, P. Sanchez-Lara, S. Pepkowitz, 2007, American journal of medical genetics. Part A.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

J. Graham, W. Dobyns, P. Sanchez-Lara, 2021, American journal of medical genetics. Part A.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

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

J. Hacia, J. Iwata, A. Suzuki, 2012, The Journal of clinical investigation.

Fibroblast Growth Factor 9 (FGF9)-Pituitary Homeobox 2 (PITX2) Pathway Mediates Transforming Growth Factor β (TGFβ) Signaling to Regulate Cell Proliferation in Palatal Mesenchyme during Mouse Palatogenesis*

J. Hacia, R. Pelikan, J. Iwata, 2011, The Journal of Biological Chemistry.

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

M. Bootwalla, J. Jing, P. Sanchez-Lara, 2016, Genesis.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

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

D. Earl, P. Sanchez-Lara, T. Wenger, 2016, The Journal of pediatrics.

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

I. Glass, D. Shaw, K. Millen, 2012, Brain : a journal of neurology.

Postoperative helmet therapy following fronto‐orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis

P. Sanchez-Lara, M. Urata, E. Wolfswinkel, 2021, American journal of medical genetics. Part A.

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

P. Sanchez-Lara, M. Urata, J. McComb, 2019, Plastic and reconstructive surgery.

Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation

P. Sanchez-Lara, Ruchira Garg, Dor Markush, 2023, Pediatric Cardiology.

Impact of Stem Cells in Craniofacial Regenerative Medicine

D. Warburton, R. Bajpai, P. Sanchez-Lara, 2012, Front. Physio..

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

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Investigation of NRXN1 deletions: Clinical and molecular characterization

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach with review of the Literature

P. Sanchez-Lara, M. Urata, W. Magee, 2017, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

D. Nickerson, M. Bamshad, J. Graham, 2021, American journal of medical genetics. Part A.

A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate

Hanlin Gao, R. Maas, A. Suzuki, 2020, Genes.

Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations

P. Sanchez-Lara, G. Mirzaa, M. Adam, 2021, American journal of medical genetics. Part A.

Neonatal and Infant Mandibular Distraction as an Alternative to Tracheostomy in Severe Obstructive Sleep Apnea

Cameron S. Francis, S. D. Davidson Ward, P. Sanchez-Lara, 2012, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

A celebration in honor of John M. Graham, Jr, MD, ScD

J. Golden, J. Carey, P. Sanchez-Lara, 2021, American journal of medical genetics. Part A.

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

B. Burton, P. Sanchez-Lara, M. Deardorff, 2012, American journal of medical genetics. Part A.

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

Cameron S. Francis, P. Sanchez-Lara, M. Urata, 2012, Clinical epidemiology.

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Graeme S. V. McDowell, D. Friedman, S. Berkovic, 2022, Annals of clinical and translational neurology.

High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects

Ryan J. Schmidt, P. Sanchez-Lara, Naikhoba C. O. Munabi, 2022, American journal of medical genetics. Part A.

The International Family Study of Nonsyndromic Orofacial Clefts: Design and Methods

D. Conti, R. Mckean-Cowdin, P. Sanchez-Lara, 2021, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Parental risk factors for oral clefts among Central Africans, Southeast Asians, and Central Americans

J. Samet, A. Foong, P. Sanchez-Lara, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Proteus Syndrome With a Cranial Intraosseous Lipoma.

P. Sanchez-Lara, M. Urata, J. McComb, 2017, The Journal of craniofacial surgery.

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome

P. Sanchez-Lara, Ruchira Garg, D. Frishberg, 2021, American journal of medical genetics. Part A.

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

Sarah C. Nelson, C. Rotimi, A. Adeyemo, 2018, Human molecular genetics.

Bilateral maxillary duplication: case report and literature review.

P. Sanchez-Lara, A. Borzabadi-Farahani, D. Yamashita, 2012, Oral surgery, oral medicine, oral pathology and oral radiology.

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

H. Slavkin, P. Sanchez-Lara, M. Urata, 2014, Journal - California Dental Association.

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

Jeremy D. Woods, J. Graham, P. Sanchez-Lara, 2019, The Journal of pediatrics.

Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening

L. Armengol, T. Pierson, P. Sanchez-Lara, 2023, Cellular and Molecular Life Sciences.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

P. Sanchez-Lara, J. Hoover-Fong, K. Rauen, 2014, Clinical genetics.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

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

T. Triche, D. Maglinte, J. Buckley, 2016, The Journal of molecular diagnostics : JMD.

Thinking outside “The Box”: Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr

J. Carey, P. Sanchez-Lara, C. Curry, 2021, American journal of medical genetics. Part A.

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

H. Shimada, P. Sanchez-Lara, R. Boles, 2011, Molecular genetics and metabolism.

Congenital hyperinsulinism in a newborn presenting with poor feeding

P. Sanchez-Lara, B. Schweiger, Katheryn L. Grand, 2022, SAGE open medical case reports.

Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia

P. Sanchez-Lara, H. Kim, R. Lachman, 2020, American journal of medical genetics. Part A.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay

Elizabeth L. Fieg, A. Stergachis, J. Krier, 2020, Frontiers in Pharmacology.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

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

J. Samet, G. Casey, D. J. Van Den Berg, 2014, American journal of medical genetics. Part A.

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

B. Torchia, L. Shaffer, B. Bejjani, 2011, American journal of medical genetics. Part A.