Kendra L. Engleman

发表

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

R. Pfundt, M. Reijnders, D. Schubert, 2019, bioRxiv.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Orion J. Buske, Nigel J. Price, Warren A. Cheung, 2021, medRxiv.

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly

A. Toutain, Kilannin Krysiak, B. Gilbert-Dussardier, 2021, Clinical genetics.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Andrei L. Turinsky, S. Scherer, C. Cytrynbaum, 2019, BMC Medical Genomics.

Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series

E. Farrow, C. Saunders, I. Thiffault, 2022, Clinical genetics.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

Orion J. Buske, Neil A. Miller, J. Korlach, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

J. Hoenicka, J. Baptista, A. Fry, 2021, American journal of medical genetics. Part A.

A novel likely pathogenic variant in a patient with Hermansky–Pudlak syndrome

Lisa A. Lansdon, C. Saunders, Dong Chen, 2021, Cold Spring Harbor molecular case studies.

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease

Carol J. Saunders, C. Saunders, M. Cadieux-Dion, 2021, American journal of medical genetics. Part A.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

A. Telegrafi, C. Phornphutkul, M. Osmond, 2024, American journal of human genetics.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

Carol J. Saunders, E. Farrow, L. Willig, 2018, neurogenetics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype

Scott C. Smith, Carol J. Saunders, C. Saunders, 2021, Human mutation.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Neil A. Miller, Carol J. Saunders, E. Farrow, 2018, BMC Medical Genetics.