Kym M. Boycott
AuthID: R-00G-QZD
1
TITLE: Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Full Text
AUTHORS: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; ...More
PUBLISHED: 2022, SOURCE: ANNALS OF NEUROLOGY
AUTHORS: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; ...More
PUBLISHED: 2022, SOURCE: ANNALS OF NEUROLOGY
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
AUTHORS: Yoko Ito; Keren J Carss; Sofia T Duarte; Taila Hartley; Boris Keren; Manju A Kurian; Isabelle Marey; Perinne Charles; Carla Mendonca; Caroline Nava; Rolph Pfundt; Alba Sanchis Juan; Hans van Bokhoven; Anthony van Essen; Conny van Ravenswaaij Arts; Kym M Boycott; Kristin D Kernohan; Sarah Dyack; Lucy L Raymond;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 1
AUTHORS: Yoko Ito; Keren J Carss; Sofia T Duarte; Taila Hartley; Boris Keren; Manju A Kurian; Isabelle Marey; Perinne Charles; Carla Mendonca; Caroline Nava; Rolph Pfundt; Alba Sanchis Juan; Hans van Bokhoven; Anthony van Essen; Conny van Ravenswaaij Arts; Kym M Boycott; Kristin D Kernohan; Sarah Dyack; Lucy L Raymond;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 1
INDEXED IN: WOS
WOS3
TITLE: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Full Text
AUTHORS: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
AUTHORS: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
