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

Por Kiely, N., Williams, N.
Publicado em 1995

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

Por Johnson, B, Choudry, Q, Heaver, C, Kiely, N
Publicado no Ann R Coll Surg Engl (2014)

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

Por Johnson, B, Choudry, Q, Heaver, C, Kiely, N
Publicado no Ann R Coll Surg Engl (2014)

Medullary carcinoma of the thyroid metastatic to breast.

Por Kiely, N., Williams, N., Wilson, G., Williams, R. J.
Publicado em 1995

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

Por Sweeney, Neal T., James, Kiely N., Sales, Emily, Feldheim, David A.
Publicado no Dev Neurobiol (2015)

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

Por Sabir, A. H., Ryan, G., Mohammed, Z., Kirk, J., Kiely, N., Thyagarajan, M., Cole, T.
Publicado no Case Rep Genet (2019)

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

Por Briggs, Benjamin, James, Kiely N., Chowdhury, Shimul, Thornburg, Courtney, Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Publicado no 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

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

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

Por Segal, Michael M., George, Renee, Waltman, Peter, El-Hattab, Ayman W., James, Kiely N., Stanley, Valentina, Gleeson, Joseph
Publicado no Orphanet J Rare Dis (2020)

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

Por James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.
Publicado no NPJ Genom Med (2020)

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

Por 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.
Publicado no Neuron (2015)

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

Por 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.
Publicado no Am J Hum Genet (2016)

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

Por 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.
Publicado no Am J Hum Genet (2016)

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

Por 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.
Publicado no Am J Hum Genet (2018)

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Por 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.
Publicado no Epilepsia Open (2020)

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

Por 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.
Publicado no Hum Mol Genet (2017)

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

Por 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
Publicado no J Med Genet (2019)

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

Por 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
Publicado em 2020-02-01

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

Por 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
Publicado no 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

Por 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.
Publicado no Am J Hum Genet (2019)