Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders
Carey, Abigail S., Schacht, John P., Umandap, Christine, Fasel, David, Weng, Chunhua, Cappell, Joshua, Chung, Wendy K., Kernie, Steven G.
Published in Pediatric research (01.11.2020)
Published in Pediatric research (01.11.2020)
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Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
Thomas‐Wilson, Amanda, Schacht, John P., Chitayat, David, Blaser, Susan, Santos, Francis Jeshira Reynoso, Glaser, Kimberly, Caffo, Alesky, Wentzensen, Ingrid M., Henderson, Lindsay B., Zhang, Futao, Zhu, Ying, Di Corleto, Ellen, da Silva Costa, Fabricio, Vink, Rebecca, Alkhunaizi, Ebba, Russell, Laura, Buckley, Michael F., Roscioli, Tony, Pereira, Elaine Maria, Ganapathi, Mythily
Published in American journal of medical genetics. Part A (01.07.2023)
Published in American journal of medical genetics. Part A (01.07.2023)
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Journal Article
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Ganapathi, Mythily, Matsuoka, Leticia S, March, Michael, Li, Dong, Brokamp, Elly, Benito-Sanz, Sara, White, Susan M, Lachlan, Katherine, Ahimaz, Priyanka, Sewda, Anshuman, Bastarache, Lisa, Thomas-Wilson, Amanda, Stoler, Joan M, Bramswig, Nuria C, Baptista, Julia, Stals, Karen, Demurger, Florence, Cogne, Benjamin, Isidor, Bertrand, Bedeschi, Maria Francesca, Peron, Angela, Amiel, Jeanne, Zackai, Elaine, Schacht, John P, Iglesias, Alejandro D, Morton, Jenny, Schmetz, Ariane, Seidel, Verónica, Lucia, Stephanie, Baskin, Stephanie M, Thiffault, Isabelle, Cogan, Joy D, Gordon, Christopher T, Chung, Wendy K, Bowdin, Sarah, Bhoj, Elizabeth
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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Journal Article
Hypoglycemia Due to Acquired Carnitine Deficiency in a Pediatric Patient Receiving Chemotherapy
Vasta, Lauren M, Reynolds, Sarah M, Sami, Seppideh, Schacht, John P, Emerick, Jill E, Parekh, Dina S, Vogt, Karen S
Published in Journal of pediatric hematology/oncology (01.03.2022)
Published in Journal of pediatric hematology/oncology (01.03.2022)
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Changes in HIV Preexposure Prophylaxis Awareness and Use Among Men Who Have Sex with Men — 20 Urban Areas, 2014 and 2017
Finlayson, Teresa, Cha, Susan, Xia, Ming, Trujillo, Lindsay, Denson, Damian, Prejean, Joseph, Kanny, Dafna, Wejnert, Cyprian
Published in MMWR. Morbidity and mortality weekly report (12.07.2019)
Published in MMWR. Morbidity and mortality weekly report (12.07.2019)
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Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide
Ebrahim, Ismail C., Hoang, Thanh D., Vietor, Nicole O., Schacht, John P., Shakir, Mohamed K. M.
Published in Clinical case reports (01.12.2022)
Published in Clinical case reports (01.12.2022)
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Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant
Ketchum, Elizabeth H., Groomes, Charles L., Ghersi, Alexis N., Graziose, Brian B., Wilson, Sharen C., Zven, Sidney E., Hicks, Rebecca L., Langley, William A., Reott, Michael A., Schacht, John P., Schulz, Elizabeth V., Curtis, Jerri
Published in Clinical case reports (01.06.2024)
Published in Clinical case reports (01.06.2024)
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HIV Among MSM and Heterosexual Women in the United States: An Ecologic Analysis
Raymond, H Fisher, Al-Tayyib, Alia, Neaigus, Alan, Reilly, Kathleen H, Braunstein, Sarah, Brady, Kathleen A, Sey, Ekow, Risser, Jan, Padget, Paige, Lalota, Marlene, Schacht, John-Mark, Forrest, David W, Macomber, Katie, Griffin, Vivian, Higgins, Emily, Robinson, William T, Zarwell, Meagan C, Opoku, Jenevieve, Magnus, Manya, Kuo, Irene, Burt, Richard, Thiede, Hanne, Glick, Sara, Flynn, Colin, German, Danielle
Published in Journal of acquired immune deficiency syndromes (1999) (01.07.2017)
Published in Journal of acquired immune deficiency syndromes (1999) (01.07.2017)
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An application of agent-based modeling to explore the impact of decreasing incarceration rates and increasing drug treatment access on sero-discordant partnerships among people who inject drugs
Linton, Sabriya L., Jarlais, Don C. Des, Ornstein, Joseph T., Kasman, Matt, Hammond, Ross, Kianian, Behzad, Smith, Justin C., Wolfe, Mary E, Ross, Zev, German, Danielle, Flynn, Colin, Raymond, Henry F., Klevens, R. Monina, Spencer, Emma, Schacht, John-Mark, Finlayson, Teresa, Paz-Bailey, Gabriela, Wejnert, Cyprian, Cooper, Hannah L.F.
Published in The International journal of drug policy (01.08.2021)
Published in The International journal of drug policy (01.08.2021)
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Pyknodysostosis (Osteopetrosis Acro-Osteolytica)
Schmidt, Gregory S., Schacht, John P., Knee, Treyce S., Shakir, Mohamed K.M., Hoang, Thanh D.
Published in AACE clinical case reports (01.09.2020)
Published in AACE clinical case reports (01.09.2020)
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Journal Article
PSAT182 Dilemmas in the Diagnosis and Management of Osteoporosis in a patient with Alkaptonuria: Successful Treatment with Teriparatide
Ebrahim, Ismail, Vietor, Nicole, Schacht, John, Hoang, Thanh, Shakir, Mohamed
Published in Journal of the Endocrine Society (01.11.2022)
Published in Journal of the Endocrine Society (01.11.2022)
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Journal Article
Age-Specific Race and Ethnicity Disparities in HIV Infection and Awareness Among Men Who Have Sex With Men—20 US Cities, 2008–2014
Wejnert, Cyprian, Hess, Kristen L., Rose, Charles E., Balaji, Alexandra, Smith, Justin C., Paz-Bailey, Gabriela
Published in The Journal of infectious diseases (01.03.2016)
Published in The Journal of infectious diseases (01.03.2016)
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Self-Reported History of Chlamydia or Gonorrhea Testing Among Heterosexual Women at High Risk of HIV Infection, National HIV Behavioral Surveillance, 2013
Johnson Jones, Michelle L, Kirkcaldy, Robert D, An, Qian, Gorwitz, Rachel, Bernstein, Kyle, Paz-Bailey, Gabriela
Published in Sexually transmitted diseases (01.09.2019)
Published in Sexually transmitted diseases (01.09.2019)
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