L. Pyle

发表

D. Weiss, L. Pyle, 2019, The Journal of urology.

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

M. Boehnke, T. Aleman, Jun Z. Li, 2019, PLoS genetics.

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development

K. Nathanson, L. Pyle, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Integrated Molecular Characterization of Testicular Germ Cell Tumors

Joshua M. Stuart, Jeffrey A Jones, David I Heiman, 2018, Cell reports.

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants

D. del Gaudio, K. Arndt, C. Hawkes, 2020, American journal of medical genetics. Part A.

Identification of human and mouse hematopoietic stem cell populations expressing high levels of mRNA encoding retrovirus receptors

D. Bodine, H. Broxmeyer, M. Yoder, 1998 .

Identification of human and mouse hematopoietic stem cell populations expressing high levels of mRNA encoding retrovirus receptors.

H. Broxmeyer, M. Yoder, S. Anderson, 1998, Blood.

Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies

E. Zackai, N. Spinner, Minjie Luo, 2015, American journal of medical genetics. Part A.

Amphotropic or gibbon ape leukemia virus retrovirus binding and transduction correlates with the level of receptor mRNA in human hematopoietic cell lines.

S. Spratt, D. Sabatino, D. Orlic, 1997, Blood cells, molecules & diseases.

50 Years Ago in T J P

I. Krantz, L. Pyle, 2021, The Journal of Pediatrics.

Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States

S. Witchel, Emilie K. Johnson, C. Finlayson, 2023, Frontiers in Endocrinology.

Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor

Robert Karlsson, Trine B. Haugen, Nandita Mitra, 2017, Nature Genetics.

Ovotestis in Adolescence: 2 Case Reports.

K. Darge, Susan J. Back, T. Kolon, 2017, Urology.

Ovotestis in Adolescence: Two Case Reports

K. Darge, Susan J. Back, T. Kolon, 2017 .

Behavioral Health Diagnoses in Youth With Difference of Sex Development or Congenital Adrenal Hyperplasia Compared With Controls: A PEDSnet Study.

D. Christakis, L. Pyle, A. Kazak, 2021, The Journal of pediatrics.

Expanding the reproductive organ phenotype of CHD7‐spectrum disorder

E. Zackai, I. Krantz, C. Skraban, 2023, American journal of medical genetics. Part A.

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors

Nathanael D. Moore, D. Rader, E. V. Van Allen, 2019, JAMA oncology.

Identification of 22 susceptibility loci associated with testicular germ cell tumors

Christopher D. Brown, L. Kiemeney, K. Stefánsson, 2021, Nature Communications.

Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators.

J. Clancy, S. Rowe, G. Bolger, 2011, American journal of physiology. Lung cellular and molecular physiology.

A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

Marilyn M. Li, F. Couch, K. Offit, 2020, Cancer Research.

Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.

D. Rader, M. Greene, K. Nathanson, 2020, Cancer genetics.

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

A. Hoischen, I. V. van Rooij, H. Brunner, 2021, Clinical genetics.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

D. Chitayat, Marilyn C. Jones, G. Kletter, 2019, American journal of human genetics.

Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.

M. Vogiatzi, L. Pyle, Marissa J Kilberg, 2019, Pediatric endocrinology reviews : PER.

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

E. Zackai, A. Telegrafi, C. Skraban, 2018, American journal of medical genetics. Part A.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.

M. Yudkoff, Meng Li, N. Sondheimer, 2015, JIMD reports.

A Minimal Ankyrin Promoter Linked to a Human γ-Globin Gene Demonstrates Erythroid Specific Copy Number Dependent Expression with Minimal Position or Enhancer Dependence in Transgenic Mice*

D. Bodine, D. Sabatino, P. Gallagher, 2000, The Journal of Biological Chemistry.

Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop*

G. Lukács, S. Atwell, H. Lewis, 2015, The Journal of Biological Chemistry.

DeltaF508 CFTR processing correction and activity in polarized airway and non-airway cell monolayers.

J. Clancy, Y. Li, S. Rowe, 2010, Pulmonary pharmacology & therapeutics.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

Case Report: Low Bone and Normal Lean Mass in Adolescents With Complete Androgen Insensitivity Syndrome

M. Vogiatzi, T. Kolon, A. Kelly, 2021, Frontiers in Endocrinology.

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

E. Zackai, I. Krantz, R. Ganetzky, 2022, Pediatrics.

Activation of the cystic fibrosis transmembrane conductance regulator by the flavonoid quercetin: potential use as a biomarker of ΔF508 cystic fibrosis transmembrane conductance regulator rescue.

J. Clancy, S. Rowe, M. Mazur, 2010, American journal of respiratory cell and molecular biology.

Genetic changes associated with testicular cancer susceptibility.

K. Nathanson, L. Pyle, 2016, Seminars in oncology.

Integrated Molecular Characterization of Testicular Germ Cell Tumors

Joshua M. Stuart, Jeffrey A Jones, David I Heiman, 2018, Cell reports.