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Ajith Kumar

5PUBLICATIONS

85CO-AUTHORS

Gene mappingEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)

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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 <i>MBD5</i> 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

Frequent Collaborators

1 joint publications

Chris Lelliott

1 joint publications

Jeffrey C Barrett

1 joint publications

Marie Bernkopf

1 joint publications

Stephen J Bush

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