Ajith Kumar
5PUBLICATIONS
85CO-AUTHORS
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Publications (5)
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|Sep 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.Vani Jain, Seow Hoong Foo, Stephen Chooi
|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara
|Feb 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.Marie Bernkopf, Ummi B Abdullah, Stephen J Bush
|Sep 26, 2017
Inherited 2q23.1 microdeletions involving the MBD5 locus.Shereen Tadros, Rubin Wang, Jonathan J Waters
|Oct 06, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Nadia Akawi, Jeremy McRae, Morad Ansari
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Frequent Collaborators
1 joint publications
Chris Lelliott
1 joint publications
Jeffrey C Barrett
1 joint publications
Marie Bernkopf
1 joint publications
Stephen J Bush
1 joint publications
Nils Koelling
1 joint publications
Loïc M Thibaut
1 joint publications
Jonathan Williams
1 joint publications
Alexander T Deng
1 joint publications
Shwetha Ramachandrappa
1 joint publications
Andrew O M Wilkie
