Marisa V. Andrews

发表

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Variants in DOCK3 cause developmental delay and hypotonia

M. Shinawi, D. Babovic‐Vuksanovic, R. Schnur, 2019, European Journal of Human 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.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

O. Lichtarge, M. Shinawi, Panagiotis Katsonis, 2018, Bone.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

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

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures

J. Shimony, D. Spencer, M. Shinawi, 2018, Pediatric Research.

Effect of accessibility of a genetic counselor on uptake of preimplantation genetic testing for aneuploidy (PGT-A) and carrier screening for patients undergoing in vitro fertilization.

P. Jimenez, Caitlin E. Martin, Prapti Singh, 2023, Journal of genetic counseling.

Variants in DOCK3 cause developmental delay and hypotonia

M. Shinawi, D. Babovic‐Vuksanovic, R. Schnur, 2019, European Journal of Human Genetics.