S. Collins

发表

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

G. Bejerano, S. Mehta, R. Hevner, 2017, Brain : a journal of neurology.

N-ras mutations in adult de novo acute myelogenous leukemia: prevalence and clinical significance.

J. Radich, F. Appelbaum, C. Willman, 1990, Blood.

oncogene in both chronic phase and blast crisis Chronic myelogenous leukemia: amplification of a rearranged c-abl

M. Groudine, S. Collins, 2010 .

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Martin, J. Shendure, Martin Kircher, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

A Novel Signaling Pathway

Yumei Song, Kelly A Kernan, R. Leboeuf, 2009, The Journal of Biological Chemistry.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

Polymerase chain reaction detection of the BCR-ABL fusion transcript after allogeneic marrow transplantation for chronic myeloid leukemia: results and implications in 346 patients.

J. Radich, T. Gooley, E. Bryant, 1995, Blood.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

Beth K. Martin, J. Shendure, K. Friend, 2015, The Lancet Neurology.

Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome

A. Rump, W. Dobyns, J. Altmüller, 2016, American journal of medical genetics. Part A.

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

E. Puffenberger, K. Strauss, K. Millen, 2016, American journal of human genetics.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

William B Dobyns, Renske Oegema, A. Green, 2015, Human molecular genetics.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Beth K. Martin, Michael P. Morrissey, J. Shendure, 2016, JAMA neurology.

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Joseph B Hiatt, J. Shendure, B. O’Roak, 2015, Brain : a journal of neurology.

PI 3 K / AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Joseph B Hiatt, J. Shendure, B. O’Roak, 2015 .

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.

GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)

Bernard Y. Kim, James W. MacDonald, A. McKenna, 2023, bioRxiv.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.