LouisePyleMDPhD

PubMed

• 1 citations
  Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
  Tomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi, Ian Krantz, Thomas F Kolon, David Langdon, Cara Skraban, Jason Van Batavia, Ela...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 50 Years Ago in TheJournalofPediatrics: From Chromosomes to Clinical Care: Klinefelter Syndrome.
  Louise C Pyle, Jacqueline M M Leonard, Ian D Krantz> ;The Journal of Pediatrics. 2022 Apr 1
• Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States.
  Aisha L Siebert, Veronica Gomez-Lobo, Emilie K Johnson, Leena Nahata, Kyle E Orwig, Louise C Pyle, Selma F Witchel, Courtney Finlayson, Monica M Laronda> ;Frontiers in Endocrinology. 2022 Jan 1
• 2 citations
  The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene
  Servi J. C. Stevens, Constance T. R. M. Stumpel, Karin E. M. Diderich, Marjon van Slegtenhorst, Mary-Alice Abbott, Courtney Manning, Jorune Balciuniene, Louise C. Pyle...> ;Clinical Genetics. 2021 Oct 28
• 5 citations
  Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study.
  Rachel Sewell, Cindy L. Buchanan, Shanlee M Davis, Dimitri A. Christakis, Amanda Dempsey, Anna Furniss, Anne E. Kazak, Anna J. Kerlek, Brianna Magnusen, Nathan M. Pajo...> ;The Journal of Pediatrics. 2021 Aug 27
• 50 Years Ago in TheJournalofPediatrics: To Every Season Turner, Turner, Turner.
  Louise C. Pyle, Ian D. Krantz> ;The Journal of Pediatrics. 2021 Aug 1
• 23 citations
  Identification of 22 susceptibility loci associated with testicular germ cell tumors.
  John Pluta, Louise C. Pyle, Kevin T. Nead, Rona Wilf, Mingyao Li, Nandita Mitra, Benita Weathers, Kurt D'Andrea, Kristian Almstrup, Lynn Anson-Cartwright, Javier Benit...> ;Nature Communications. 2021 Jul 23
• 1 citations
  The discipline of dysmorphology and the beauty of art
  Louise C. Pyle> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 May 15
• 3 citations
  Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
  Dong Li, Michael E. March, Paola Fortugno, Liza L Cox, Leticia S. Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C. Pyle, Emma Bedoukian, María José Sánchez-Soler...> ;Human Genetics. 2021 Apr 3
• 2 citations
  Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
  Alexander F. Gileta, Maria Helgeson, Jacqueline Leonard, Louise C. Pyle, Hari Prasanna Subramanian, Kelly Arndt, Colin P. Hawkes, Daniela del Gaudio> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• Lack of Pathogenic Germline DICER1 Variants in Males with Testicular Germ-Cell Tumors
  Lauren M Vasta, Mary L McMaster, Laura A. Harney, Alexander Ling, Jung Kim, Anne K. Harris, Ann G Carr, Scott M. Damrauer, Daniel J. Rader, Rachel L. Kember, Peter A. ...> ;Cancer Genetics. 2020 Oct 1
• 15 citations
  A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers
  Jacquelyn Powers, Emilia M. Pinto, Thibaut Barnoud, Jessica C. Leung, Tetyana Martynyuk, Andrew V. Kossenkov, Aaron H. Philips, Heena Desai, Ryan Hausler, Gregory Kell...> ;Cancer Research. 2020 Sep 1
• 24 citations
  Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
  Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nan...> ;American Journal of Human Genetics. 2020 Jan 2
• 38 citations
  Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors.
  Saud H. AlDubayan, Louise C. Pyle, Marija Gamulin, Tomislav Kuliš, Nathanael D. Moore, Amaro Taylor-Weiner, Anis A. Hamid, Brendan Reardon, Bradley Wubbenhorst, Rama G...> ;JAMA Oncology. 2019 Apr 1
• 1 citations
  Case 2: Severe Hyperammonemia in a Neonate: An Alternate Ending.
  Sarah E Sheppard, Heidi M. Herrick, Rebecca C. Ahrens-Nicklas, Jennifer L. Cohen, John Flibbotte, Louise C. Pyle> ;Neoreviews. 2019 Feb 1
• 268 citations
  Integrated Molecular Characterization of Testicular Germ Cell Tumors
  Hui Shen, Juliann Shih, Daniel P. Hollern, Linghua Wang, Reanne Bowlby, Satish K. Tickoo, Vesteinn Thorsson, Andrew J. Mungall, Yulia Newton, Apurva M. Hegde, Joshua A...> ;Cell Reports. 2018 Jun 12
• 38 citations
  De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
  Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara M. Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine H. Zackai, El...> ;American Journal of Medical Genetics. Part A. 2018 Feb 15
• 3 citations
  Ovotestis in Adolescence: 2 Case Reports
  Jyoti Chouhan, David I. Chu, Antoinette Birs, Louise C. Pyle, Jason P. Van Batavia, Rebecca L. Linn, Susan J. Back, Pierre Russo, Kassa Darge, Thomas F. Kolon, Arun K....> ;Urology. 2017 Jul 1
• 88 citations
  Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.
  Zhaoming Wang, Katherine A. McGlynn, Ewa Rajpert-De Meyts, D. Timothy Bishop, Charles C. Chung, Marlene Danner Dalgaard, Mark H. Greene, Ramneek Gupta, Tom Grotmol, Tr...> ;Nature Genetics. 2017 Jun 12
• 40 citations
  A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
  Louise C. Pyle, Katherine L. Nathanson> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2017 May 25
• 22 citations
  Genetic changes associated with testicular cancer susceptibility
  Louise C. Pyle, Katherine L. Nathanson> ;Seminars in Oncology. 2016 Oct 1
• Response to van Rijt et al.
  Rebecca C. Ahrens-Nicklas, Louise C. Pyle, Can Ficicioglu> ;Genetics in Medicine. 2016 Sep 22
• 8 citations
  Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency
  Rebecca C. Ahrens-Nicklas, Louise C. Pyle, Can Ficicioglu> ;Genetics in Medicine. 2016 May 5
• 44 citations
  Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
  Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura A. Baker, Tabib Dabir, Katrina M. Dipple, William B. Dobyns, Jane...> ;Human Mutation. 2016 Feb 1
• 12 citations
  Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop
  Annette Ehrhardt, W. Joon Chung, Louise C. Pyle, Wei Wang, Kryzysztof Nowotarski, Cory M. Mulvihill, Mohabir Ramjeesingh, Jeong S. Hong, Sadanandan E. Velu, Hal A. Lew...> ;The Journal of Biological Chemistry. 2016 Jan 22
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