Amy Crunk

发表

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Martin W. Breuss, A. Pagnamenta, P. Bauer, 2020, European Journal of Human Genetics.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

J. Rosenfeld, P. Striano, F. Zara, 2022, American journal of human genetics.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

V. Lefebvre, R. Bökenkamp, D. Barge-Schaapveld, 2022, Journal of Medical Genetics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

Amy Crunk, John P. Johnson, Abdallah F Elias, 2018, Journal of Assisted Reproduction and Genetics.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

M. Fornerod, L. D. de Vries, A. Afenjar, 2019, American journal of human genetics.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB

N. Haddad, Amy Crunk, A. Elsotouhy, 2023, neurogenetics.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

J. Lupski, P. Sulem, S. Küry, 2024, American journal of human genetics.