Laura E Schultz-Rogers

Eric W Klee 8 collaborations

Margot A Cousin 4 collaborations

Erica L Macke 3 collaborations

Gavin R Oliver 3 collaborations

Kristin G Monaghan 2 collaborations

Aida Telegrafi 2 collaborations

Suneeta Madan-Khetarpal 2 collaborations

Jennifer J MacKenzie 2 collaborations

Jennifer Kemppainen 2 collaborations

Lynn Pais 2 collaborations

Katharina Steindl 2 collaborations

Rolph Pfundt 2 collaborations

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Anita Rauch 2 collaborations

Tahsin Stefan Barakat 2 collaborations

Tianyun Wang 2 collaborations

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Marco Tartaglia 2 collaborations

Filippo Pinto E Vairo 2 collaborations

W Garrett Jenkinson 2 collaborations

Alejandro Ferrer 2 collaborations

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Michael T Zimmermann 2 collaborations

Patrick R Blackburn 2 collaborations

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Linda Hasadsri 2 collaborations

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Pavel N Pichurin 2 collaborations

Ralitza H Gavrilova 2 collaborations

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Dusica Babovic-Vuksanovic 2 collaborations

Sekhar Kambakam 2 collaborations

Wesley A Wierson 2 collaborations

Stephen C Ekker 2 collaborations

Maura McGrail 2 collaborations

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Ingo Helbig 2 collaborations

Boris Keren 2 collaborations

Pritha Chanana 2 collaborations

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None None 2 collaborations

Francesca Clementina Radio 1 collaboration

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Tal Gilboa 1 collaboration

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Mohammed Al-Owain 1 collaboration

Ali Awaji 1 collaboration

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David A Koolen 1 collaboration

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Yue Si 1 collaboration

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Affiliations

Publications (10)

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Impact of integrated translational research on clinical exome sequencing.

SPECC1L regulates palate development downstream of IRF6.

Cre/

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis.

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.

Réseau de co-auteurs