NouraSereneAbul-HusnMDPhD, FACMG(She/Her)

PubMed

• Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
  Michael E Horesh, Marta Martin-Fernandez, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hod...> ;The Journal of Experimental Medicine. 2024 Jun 3
• 3 citations
  Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
  Niall J Lennon, Leah C Kottyan, Christopher Kachulis, Noura S Abul-Husn, Josh Arias, Gillian Belbin, Jennifer E Below, Sonja I Berndt, Wendy K Chung, James J Cimino, E...> ;Nature Medicine. 2024 Feb 1
• Pharmacogenomic knowledge and awareness among diverse patients treated with angiotensin converting enzyme inhibitors.
  Naik, H., O'Connor, M., Sanderson, S., Pinnell, N., Dong, M., Wiegand, A., Obeng, A., Scott, S., Abul-Husn, N.> ;Pharmacogenomics. 2023 Dec 1
• The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
  Sabrina A Suckiel, Nicole R Kelly, Jacqueline A Odgis, Katie M Gallagher, Monisha Sebastin, Katherine E Bonini, Priya N Marathe, Kaitlyn Brown, Miranda Di Biase, Miche...> ;American Journal of Human Genetics. 2023 Dec 7
• Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.
  Asem Berkalieva, Nicole R Kelly, Ashley Fisher, Samuel F Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E Bonini, Priya Marathe, Jacqueline A Odgis, Sabrina A ...> ;Genetics in Medicine. 2024 Jan 1
• The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.
  Sabrina A Suckiel, Nicole R Kelly, Jacqueline A Odgis, Katie M Gallagher, Monisha Sebastin, Katherine E Bonini, Priya N Marathe, Kaitlyn Brown, Miranda Di Biase, Miche...> ;Medrxiv. 2023 Jul 7
• 1 citations
  Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
  Katherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, Monisha Sebastin, Jacqueline A Odgis, Miranda Di Biase, Nicole R Kelly, Michelle A Ramos, Beverly J Insel, L...> ;Clinical Genetics. 2023 Aug 1
• 26 citations
  ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genom...
  David T Miller, Kristy Lee, Noura S Abul-Husn, Laura M Amendola, Kyle Brothers, Wendy K Chung, Michael H Gollob, Adam S Gordon, Steven M Harrison, Ray E Hershberger, T...> ;Genetics in Medicine. 2023 Aug 1
• 1 citations
  Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
  Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Jacqueline A Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie...> ;Genetics in Medicine. 2023 Sep 1
• 21 citations
  Returning integrated genomic risk and clinical recommendations: The eMERGE study.
  Esplin, E. D., Jodell E Linder, Aimee Allworth, Harris T Bland, Pedro J Caraballo, Rex L Chisholm, Ellen Wright Clayton, David R Crosslin, Ozan Dikilitas, Alanna DiVie...> ;Genetics in Medicine. 2023 Apr 1
• 4 citations
  The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.
  Monisha Sebastin, Jacqueline A Odgis, Sabrina A Suckiel, Katherine E Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R Kelly, Michelle A Ramos, Jessica ...> ;Pilot and Feasibility Studies. 2023 Mar 22
• 7 citations
  Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
  Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Jacqueline A Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie...> ;Medrxiv. 2023 Mar 20
• TTR Val142Ile: Bystander Genetic Finding or Diagnosis?
  Amy R Kontorovich, Noura S Abul-Husn> ;Pediatric Cardiology. 2023 Feb 1
• 2 citations
  Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.
  Stephanie M Rutledge, Emily R Soper, Ning Ma, Vikas Pejaver, Scott L Friedman, Andrea D Branch, Eimear E Kenny, Gillian M Belbin, Noura S Abul-Husn> ;Clinical Gastroenterology and Hepatology. 2023 Sep 1
• 3 citations
  Specifications of the ACMG/AMP Variant Classification Guidelines for GermlineVariant Curation.
  Jessica N Hatton, Megan N Frone, Hannah C Cox, Stephanie B Crowley, Susan Hiraki, Noriko N Yokoyama, Noura S Abul-Husn, James F Amatruda, Michael J Anderson, Xavier Bo...> ;Human Mutation. 2023 Jan 1
• 2 citations
  Admixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35.
  Sinead Cullina, Genevieve L Wojcik, Ruhollah Shemirani, Derek Klarin, Bryan R Gorman, Elena P Sorokin, Christopher R Gignoux, Gillian M Belbin, Saiju Pyarajan, Samira ...> ;Frontiers in Genetics. 2023 Jan 1
• Elective genetic testing: Genetics professionals' perspectives and practices.
  Madison S Miura, Sabrina A Suckiel, Hetanshi Naik, Emily R Soper, Noura S Abul-Husn> ;Journal of Genetic Counseling. 2023 Jun 1
• 4 citations
  Detection of mosaic variants using genome sequencing in a large pediatric cohort.
  Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R Kelly, Michell...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
  Margo S Breilyn, Eimear E Kenny, Noura S Abul-Husn> ;Molecular Genetics and Metabolism. 2023 Jan 1
• 2 citations
  Prescriber Adoption of SLCO1B1 Genotype-Guided Simvastatin Clinical Decision Support in a Clinical Pharmacogenetics Program.
  Aniwaa Owusu Obeng, Stuart A Scott, Tom Kaszemacher, Stephen B Ellis, Ana Mejia, Alanna Gomez, Rajiv Nadukuru, Noura S Abul-Husn, Aida Vega, Eva Waite, Omri Gottesman,...> ;Clinical Pharmacology and Therapeutics. 2023 Feb 1
• A first update on mapping the human genetic architecture of COVID-19.
  COVID-19 Host Genetics Initiative> ;Nature. 2022-08-03
• 37 citations
  Genome-wide polygenic score to predict chronic kidney disease across ancestries.
  Khan, A., Turchin, M., Patki, A., Srinivasasainagendra, V., Shang, N., Nadukuru, R., Jones, A., Malolepsza, E., Dikilitas, O., Kullo, I., Schaid, D., Karlson, E., Ge, ...> ;Nature Medicine. 2022 Jul 1
• 93 citations
  ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genom...
  David T Miller, Kristy Lee, Noura S Abul-Husn, Laura M Amendola, Kyle Brothers, Wendy K Chung, Michael H Gollob, Adam S Gordon, Steven M Harrison, Ray E Hershberger, T...> ;Genetics in Medicine. 2022 Jul 1
• 4 citations
  Addressing the routine failure to clinically identify monogenic cases of common disease.
  Michael F Murray, Muin J Khoury, Noura S Abul-Husn> ;Genome Medicine. 2022 Jun 7
• 7 citations
  Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.
  Sabrina A Suckiel, Giovanna T Braganza, Karla López Aguiñiga, Jacqueline A Odgis, Katherine E Bonini, Eimear E Kenny, Jada G Hamilton, Noura S Abul-Husn> ;Genetics in Medicine. 2022 Jun 1
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