Evaluation of the modified Alvarado score in the diagnosis of acute appendicitis: a prospective study.

od Kiely, N., Williams, N.
Izdano 1995

Calcaneal pull-down technique in the management of resistant equinus associated with congenital club foot

od Johnson, B, Choudry, Q, Heaver, C, Kiely, N
izdano v Ann R Coll Surg Engl (2014)

Calcaneal pull-down technique in the management of resistant equinus associated with congenital club foot

od Johnson, B, Choudry, Q, Heaver, C, Kiely, N
izdano v Ann R Coll Surg Engl (2014)

Medullary carcinoma of the thyroid metastatic to breast.

od Kiely, N., Williams, N., Wilson, G., Williams, R. J.
Izdano 1995

Ephrin-As are required for the topographic mapping but not laminar choice of physiologically distinct RGC types

od Sweeney, Neal T., James, Kiely N., Sales, Emily, Feldheim, David A.
izdano v Dev Neurobiol (2015)

Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case

od Sabir, A. H., Ryan, G., Mohammed, Z., Kirk, J., Kiely, N., Thyagarajan, M., Cole, T.
izdano v Case Rep Genet (2019)

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

od Briggs, Benjamin, James, Kiely N., Chowdhury, Shimul, Thornburg, Courtney, Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
izdano v Cold Spring Harb Mol Case Stud (2018)

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

od Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Izdano 2020-07-01

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

od Segal, Michael M., George, Renee, Waltman, Peter, El-Hattab, Ayman W., James, Kiely N., Stanley, Valentina, Gleeson, Joseph
izdano v Orphanet J Rare Dis (2020)

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

od James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.
izdano v NPJ Genom Med (2020)

Mechanism for selective synaptic wiring of rod photoreceptors into the retinal circuitry and its role in vision

od Cao, Yan, Sarria, Ignacio, Fehlhaber, Katherine E., Kamasawa, Naomi, Orlandi, Cesare, James, Kiely N., Hazen, Jennifer L., Gardner, Matthew R., Farzan, Michael, Lee, Amy, Baker, Sheila, Baldwin, Kristin, Sampath, Alapakkam P., Martemyanov, Kirill A.
izdano v Neuron (2015)

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

od Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.
izdano v Am J Hum Genet (2016)

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

od Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.
izdano v Am J Hum Genet (2016)

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

od Breuss, Martin W., Nguyen, An, Song, Qiong, Nguyen, Thai, Stanley, Valentina, James, Kiely N., Musaev, Damir, Chai, Guoliang, Wirth, Sara A., Anzenberg, Paula, George, Renee D., Johansen, Anide, Ali, Shaila, Zia-ur-Rehman, Muhammad, Sultan, Tipu, Zaki, Maha S., Gleeson, Joseph G.
izdano v Am J Hum Genet (2018)

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

od Garcia, Camila A. B., Carvalho, Simone C. S., Yang, Xiaoxu, Ball, Laurel L., George, Renee D., James, Kiely N., Stanley, Valentina, Breuss, Martin W., Thomé, Ursula, Santos, Marcelo V., Saggioro, Fabiano P., Neder Serafini, Luciano, Silva, Wilson A., Gleeson, Joseph G., Machado, Hélio R.
izdano v Epilepsia Open (2020)

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

od Breuss, Martin W., Nguyen, Thai, Srivatsan, Anjana, Leca, Ines, Tian, Guoling, Fritz, Tanja, Hansen, Andi H., Musaev, Damir, McEvoy-Venneri, Jennifer, James, Kiely N., Rosti, Rasim O., Scott, Eric, Tan, Uner, Kolodner, Richard D., Cowan, Nicholas J., Keays, David A., Gleeson, Joseph G.
izdano v Hum Mol Genet (2017)

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

od Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam
izdano v J Med Genet (2019)

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

od Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Izdano 2020-02-01

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

od 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
izdano v Mol Genet Genomic Med (2019)

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

od Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley, Valentina, James, Kiely N., Mancini, Grazia M.S., Schot, Rachel, Kalayci, Tugba, Altunoglu, Umut, Karimiani, Ehsan Ghayoor, Brick, Lauren, Kozenko, Mariya, Jamshidi, Yalda, Manzini, M. Chiara, Beiraghi Toosi, Mehran, Gleeson, Joseph G.
izdano v Am J Hum Genet (2019)