Search | VHL Search Portal

1.

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

Hughes, Joel J; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C; Grange, Dorothy K; Berger, Seth I; Payne, Katelyn K; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R; Clegg, Nancy J; Everson, Joshua L; Martinez, Ariel F; Walsh, Laurence E; Bedoukian, Emma; Jones, Marilyn C; Harris, Catharine Jean; Riedhammer, Korbinian M; Choukair, Daniela; Fechner, Patricia Y; Rutter, Meilan M; Hufnagel, Sophia B; Roifman, Maian; Kletter, Gad B; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J; Vezina, Chad M; Muenke, Maximilian; Chitayat, David.

Am J Hum Genet ; 106(1): 121-128, 2020 01 02.

Article in English | MEDLINE | ID: mdl-31883643

2.

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

Nomakuchi, Tomoki T; Danowitz, Melinda; Stewart, Blythe; Leonard, Jacqueline; Izumi, Kosuke; Krantz, Ian; Kolon, Thomas F; Langdon, David; Skraban, Cara; Van Batavia, Jason; Zackai, Elaine; Jiao, Kai; Linn, Rebecca; Alexander, Caitlin; Zaontz, Mark; Vogiatzi, Maria G; Pyle, Louise C.

Am J Med Genet A ; 191(5): 1418-1424, 2023 05.

Article in English | MEDLINE | ID: mdl-36794641

3.

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

Stevens, Servi J C; Stumpel, Constance T R M; Diderich, Karin E M; van Slegtenhorst, Marjon A; Abbott, Mary-Alice; Manning, Courtney; Balciuniene, Jorune; Pyle, Louise C; Leonard, Jacqueline; Murrell, Jill R; van de Putte, Romy; van Rooij, Iris A L M; Hoischen, Alexander; Lasko, Paul; Brunner, Han G.

Clin Genet ; 101(2): 183-189, 2022 02.

Article in English | MEDLINE | ID: mdl-34671974

4.

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

Garnai, Sarah J; Brinkmeier, Michelle L; Emery, Ben; Aleman, Tomas S; Pyle, Louise C; Veleva-Rotse, Biliana; Sisk, Robert A; Rozsa, Frank W; Ozel, Ayse Bilge; Li, Jun Z; Moroi, Sayoko E; Archer, Steven M; Lin, Cheng-Mao; Sheskey, Sarah; Wiinikka-Buesser, Laurel; Eadie, James; Urquhart, Jill E; Black, Graeme C M; Othman, Mohammad I; Boehnke, Michael; Sullivan, Scot A; Skuta, Gregory L; Pawar, Hemant S; Katz, Alexander E; Huryn, Laryssa A; Hufnagel, Robert B; Camper, Sally A; Richards, Julia E; Prasov, Lev.

PLoS Genet ; 15(5): e1008130, 2019 05.

Article in English | MEDLINE | ID: mdl-31048900

5.

The discipline of dysmorphology and the beauty of art.

Pyle, Louise C.

Am J Med Genet C Semin Med Genet ; 187(2): 141-143, 2021 06.

Article in English | MEDLINE | ID: mdl-33991442

6.

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

Li, Dong; March, Michael E; Fortugno, Paola; Cox, Liza L; Matsuoka, Leticia S; Monetta, Rosanna; Seiler, Christoph; Pyle, Louise C; Bedoukian, Emma C; Sánchez-Soler, María José; Caluseriu, Oana; Grand, Katheryn; Tam, Allison; Aycinena, Alicia R P; Camerota, Letizia; Guo, Yiran; Sleiman, Patrick; Callewaert, Bert; Kumps, Candy; Dheedene, Annelies; Buckley, Michael; Kirk, Edwin P; Turner, Anne; Kamien, Benjamin; Patel, Chirag; Wilson, Meredith; Roscioli, Tony; Christodoulou, John; Cox, Timothy C; Zackai, Elaine H; Brancati, Francesco; Hakonarson, Hakon; Bhoj, Elizabeth J.

Hum Genet ; 140(7): 1061-1076, 2021 Jul.

Article in English | MEDLINE | ID: mdl-33811546

7.

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

Sewell, Rachel; Buchanan, Cindy L; Davis, Shanlee; Christakis, Dimitri A; Dempsey, Amanda; Furniss, Anna; Kazak, Anne E; Kerlek, Anna J; Magnusen, Brianna; Pajor, Nathan M; Pyle, Laura; Pyle, Louise C; Razzaghi, Hanieh; Schwartz, Beth I; Vogiatzi, Maria G; Nokoff, Natalie J.

J Pediatr ; 239: 175-181.e2, 2021 12.

Article in English | MEDLINE | ID: mdl-34461062

8.

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

Gileta, Alexander F; Helgeson, Maria L; Leonard, Jacqueline M M; Pyle, Louise C; Subramanian, Hari P; Arndt, Kelly; Hawkes, Colin P; Del Gaudio, Daniela.

Am J Med Genet A ; 185(3): 889-893, 2021 03.

Article in English | MEDLINE | ID: mdl-33369061

9.

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

Pinz, Hailey; Pyle, Louise C; Li, Dong; Izumi, Kosuke; Skraban, Cara; Tarpinian, Jennifer; Braddock, Stephen R; Telegrafi, Aida; Monaghan, Kristin G; Zackai, Elaine; Bhoj, Elizabeth J.

Am J Med Genet A ; 176(4): 969-972, 2018 04.

Article in English | MEDLINE | ID: mdl-29446546

10.

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

Ehrhardt, Annette; Chung, W Joon; Pyle, Louise C; Wang, Wei; Nowotarski, Krzysztof; Mulvihill, Cory M; Ramjeesingh, Mohabir; Hong, Jeong; Velu, Sadanandan E; Lewis, Hal A; Atwell, Shane; Aller, Steve; Bear, Christine E; Lukacs, Gergely L; Kirk, Kevin L; Sorscher, Eric J.

J Biol Chem ; 291(4): 1854-1865, 2016 Jan 22.

Article in English | MEDLINE | ID: mdl-26627831

11.

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

Pyle, Louise C; Nathanson, Katherine L.

Am J Med Genet C Semin Med Genet ; 175(2): 304-314, 2017 06.

Article in English | MEDLINE | ID: mdl-28544305

12.

50 Years Ago in TheJournalofPediatrics: From Chromosomes to Clinical Care: Klinefelter Syndrome.

Pyle, Louise C; Leonard, Jacqueline M M; Krantz, Ian D.

J Pediatr ; 243: 90, 2022 Apr.

Article in English | MEDLINE | ID: mdl-35341558

13.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion-Almeida, Maria-Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair G W; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López-González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny E V; Pyle, Louise C; Quintero-Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf-Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; van de Kamp, Jiddeke M; van Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Bulman, Dennis E.

Hum Mutat ; 37(2): 148-54, 2016 Feb.

Article in English | MEDLINE | ID: mdl-26507355

14.

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

Ahrens-Nicklas, Rebecca C; Pyle, Louise C; Ficicioglu, Can.

Genet Med ; 18(12): 1315-1319, 2016 12.

Article in English | MEDLINE | ID: mdl-27148938

15.

50 Years Ago in TheJournalofPediatrics: To Every Season Turner, Turner, Turner.

Pyle, Louise C; Krantz, Ian D.

J Pediatr ; 235: 115, 2021 Aug.

Article in English | MEDLINE | ID: mdl-34304758

16.

Editorial Comment.

Weiss, Dana A; Pyle, Louise C.

J Urol ; 201(2): 392, 2019 02.

Article in English | MEDLINE | ID: mdl-30634375

17.

Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.

Pyle, Louise C; Kim, Jung; Bradfield, Jonathan; Damrauer, Scott M; D'Andrea, Kurt; Einhorn, Lawrence H; Godse, Rama; Hakonarson, Hakon; Kanetsky, Peter A; Kember, Rachel L; Jacobs, Linda A; Maxwell, Kara N; Rader, Daniel J; Vaughn, David J; Weathers, Benita; Wubbenhorst, Bradley; Greene, Mark H; Nathanson, Katherine L; Stewart, Douglas R.

Eur Urol ; 85(4): 337-345, 2024 Apr.

Article in English | MEDLINE | ID: mdl-37246069

18.

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

Siebert, Aisha L; Gomez-Lobo, Veronica; Johnson, Emilie K; Nahata, Leena; Orwig, Kyle E; Pyle, Louise C; Witchel, Selma F; Finlayson, Courtney; Laronda, Monica M.

Front Endocrinol (Lausanne) ; 13: 990359, 2022.

Article in English | MEDLINE | ID: mdl-36733807

19.

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

Szigety, Katherine M; Crowley, Terrence B; Gaiser, Kimberly B; Chen, Erin Y; Priestley, Jessica R C; Williams, Lydia S; Rangu, Sneha A; Wright, Christina M; Adusumalli, Priyanka; Ahrens-Nicklas, Rebecca C; Calderon, Brandon; Cuddapah, Sanmati R; Edmondson, Andrew; Ficicioglu, Can; Ganetzky, Rebecca; Kalish, Jennifer M; Krantz, Ian D; McDonald-McGinn, Donna M; Medne, Livija; Muraresku, Colleen; Pyle, Louise C; Zackai, Elaine H; Campbell, Ian M; Sheppard, Sarah E.

Pediatrics ; 150(1)2022 07 01.

Article in English | MEDLINE | ID: mdl-35642503

20.

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

Pyle, Louise C; Ehrhardt, Annette; Mitchell, Lisa High; Fan, Lijuan; Ren, Aixia; Naren, Anjaparavanda P; Li, Yao; Clancy, J P; Bolger, Graeme B; Sorscher, Eric J; Rowe, Steven M.

Am J Physiol Lung Cell Mol Physiol ; 301(4): L587-97, 2011 Oct.

Article in English | MEDLINE | ID: mdl-21724857

VHL Search Portal

Information and Knowledge for Health

Config filters

Your selection (0)

Export format:

Export: