Publications by authors named "Kendra Engleman"

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Kendra Engleman

Am J Hum Genet· June 2024

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Kendra Engleman

Am J Hum Genet· June 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Kendra Engleman

Am J Hum Genet· April 2024

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Kendra Engleman

Am J Hum Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Kendra Engleman

Am J Hum Genet· January 2024

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Pseudo-Dystonia and Marked Intrafamilial Variability in CADM3-Related Disease.
Keith Coffman, Kendra Engleman, Elizabeth Shaffer, Tyler Allison, Carol Saunders

Pediatr Neurol· July 2023

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Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, Lauren Bartik, Laura A Cross, Kendra L Engleman

Genet Med· May 2023

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Rare variants in cause delayed development, intellectual disability, autism, and epilepsy.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Jessica M Pfliger, Jill A Rosenfeld, Kendra Engleman

medRxiv· March 2023

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Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Maxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, Ana S A Cohen, Holly Welsh, Kendra Engleman

Clin Genet· August 2022

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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Ana S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, Joseph T Alaimo, Shivarajan M Amudhavalli, Kendra L Engleman

Genet Med· June 2022

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Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Simon Lebaron, Marie-Françoise O'Donohue, Scott C Smith, Kendra L Engleman, Jane Juusola

Hum Mutat· March 2022

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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Charlotte von der Lippe, Kristian Tveten, Trine E Prescott, Øystein L Holla, Øyvind L Busk, Kendra Engleman

Am J Med Genet A· January 2022

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Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
William Burns, Lynne M Bird, Delphine Heron, Boris Keren, Divya Ramachandra, Kendra Engleman

Am J Med Genet A· October 2021

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Kendra Engleman

Genet Med· October 2021

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Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, Sylvia Redon, Caroline Benech, Kendra Engleman

Clin Genet· October 2021

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A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
Lisa A Lansdon, Dong Chen, Eric T Rush, Kendra Engleman, Lei Zhang

Cold Spring Harb Mol Case Stud· October 2021

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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Kendra Engleman

Genet Med· October 2021

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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, Margot R F Reijnders, Marjolein H Willemsen, Kendra Engleman

Mol Psychiatry· June 2021

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Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Maxime Cadieux-Dion, Susan Hughes, Kendra Engleman, Eric T Rush, Carol Saunders

Am J Med Genet A· May 2021

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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, Nazar Mashtalir, Jennifer B Phillips, Kendra L Engleman

Am J Hum Genet· December 2020

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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N Sigafoos, Karl J Clark, Kendra Engleman

Genet Med· August 2020

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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Kezhi Yan, Justine Rousseau, Keren Machol, Laura A Cross, Katherine E Agre, Kendra L Engleman

Sci Adv· January 2020

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T Siu, Andrei Turinsky, Kendra Engleman

BMC Med Genomics· July 2019

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Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, Carol Saunders, Elena Repnikova

BMC Med Genet· March 2018

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