Rapid Flow Cytometry–Based Structural Maintenance of Chromosomes 1 (SMC1) Phosphorylation Assay for Identification of Ataxia-Telangiectasia Homozygotes and Heterozygotes

le Nahas, Shareef A., Butch, Anthony W., Du, Liutao, Gatti, Richard A.
Foilsithe 2009

Assessing ‘Radiosensitivity’ with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 Foci

le Martin, Nathan T., Nahas, Shareef A., Tunuguntla, Rashmi, Fike, Francesca, Gatti, Richard A.
Foilsithe 2011

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

le Farnaes, Lauge, Nahas, Shareef A., Chowdhury, Shimul, Nelson, James, Batalov, Serge, Dimmock, David M., Kingsmore, Stephen F.
Foilsithe in Cold Spring Harb Mol Case Stud (2017)

ATM–Dependent MiR-335 Targets CtIP and Modulates the DNA Damage Response

le Martin, Nathan T., Nakamura, Kotoka, Davies, Robert, Nahas, Shareef A., Brown, Christina, Tunuguntla, Rashmi, Gatti, Richard A., Hu, Hailiang
Foilsithe 2013

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis

le Hildreth, Amber, Wigby, Kristen, Chowdhury, Shimul, Nahas, Shareef, Barea, Jaime, Ordonez, Paulina, Batalov, Sergey, Dimmock, David, Kingsmore, Stephen
Foilsithe in Cold Spring Harb Mol Case Stud (2017)

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

le Sanford, Erica, Watkins, Kelly, Nahas, Shareef, Gottschalk, Michael, Coufal, Nicole G., Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Foilsithe in Cold Spring Harb Mol Case Stud (2018)

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

le Lai, Chih-Hung, Chun, Helen H., Nahas, Shareef A., Mitui, Midori, Gamo, Kristin M., Du, Liutao, Gatti, Richard A.
Foilsithe 2004

Comprehensive Profiling of Radiosensitive Human Cell Lines with DNA Damage Response Assays Identifies the Neutral Comet Assay as a Potential Surrogate for Clonogenic Survival

le Nahas, Shareef A., Davies, Robert, Fike, Francesca, Nakamura, Kotoka, Du, Liutao, Kayali, Refik, Martin, Nathan T., Concannon, Patrick, Gatti, Richard A.
Foilsithe in Radiat Res (2011)

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragm...

le Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Foilsithe in Cold Spring Harb Mol Case Stud (2018)

A New Series of Small Molecular Weight Compounds Induce Read Through of All Three Types of Nonsense Mutations in the ATM Gene

le Du, Liutao, Jung, Michael E, Damoiseaux, Robert, Completo, Gladys, Fike, Francesca, Ku, Jin-Mo, Nahas, Shareef, Piao, Cijing, Hu, Hailiang, Gatti, Richard A
Foilsithe 2013

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

le Kingsmore, Stephen F., Ramchandar, Nanda, James, Kiely, Niemi, Anna-Kaisa, Feigenbaum, Annette, Ding, Yan, Benson, Wendy, Hobbs, Charlotte, Nahas, Shareef, Chowdhury, Shimul, Dimmock, David
Foilsithe in Cold Spring Harb Mol Case Stud (2020)

Nonaminoglycoside compounds induce readthrough of nonsense mutations

le Du, Liutao, Damoiseaux, Robert, Nahas, Shareef, Gao, Kun, Hu, Hailiang, Pollard, Julianne M., Goldstine, Jimena, Jung, Michael E., Henning, Susanne M., Bertoni, Carmen, Gatti, Richard A.
Foilsithe 2009

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

le Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.
Foilsithe in NPJ Genom Med (2021)

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

le Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.
Foilsithe in NPJ Genom Med (2021)

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

le Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.
Foilsithe in NPJ Genom Med (2021)

Biallelic loss of GNAS in a patient with pediatric medulloblastoma

le Tokita, Mari J., Nahas, Shareef, Briggs, Benjamin, Malicki, Denise M., Mesirov, Jill P., Reyes, Iris Anne C., Farnaes, Lauge, Levy, Michael L., Kingsmore, Stephen F., Dimmock, David, Crawford, John R., Wechsler-Reya, Robert J.
Foilsithe in Cold Spring Harb Mol Case Stud (2019)

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance

le Kwok, Brian, Hall, Jeff M., Witte, John S., Xu, Yin, Reddy, Prashanti, Lin, Keming, Flamholz, Rachel, Dabbas, Bashar, Yung, Aine, Al-Hafidh, Jenan, Balmert, Emily, Vaupel, Christine, El Hader, Carlos, McGinniss, Matthew J., Nahas, Shareef A., Kines, Julie, Bejar, Rafael
Foilsithe in Blood (2015)

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

le Farnaes, Lauge, Hildreth, Amber, Sweeney, Nathaly M., Clark, Michelle M., Chowdhury, Shimul, Nahas, Shareef, Cakici, Julie A., Benson, Wendy, Kaplan, Robert H., Kronick, Richard, Bainbridge, Matthew N., Friedman, Jennifer, Gold, Jeffrey J., Ding, Yan, Veeraraghavan, Narayanan, Dimmock, David, Kingsmore, Stephen F.
Foilsithe in NPJ Genom Med (2018)

Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit

le Sanford, Erica F., Clark, Michelle M., Farnaes, Lauge, Williams, Matthew R., Perry, James C., Ingulli, Elizabeth G., Sweeney, Nathaly M., Doshi, Ami, Gold, Jeffrey J., Briggs, Benjamin, Bainbridge, Matthew N., Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A., Dimmock, David P., Kingsmore, Stephen F., Coufal, Nicole G.
Foilsithe in Pediatr Crit Care Med (2019)

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

le Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., van den Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek
Foilsithe in Mol Genet Genomic Med (2019)