Publications by authors named "Anna Bican"

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De novo variants in DENND5B cause a neurodevelopmental disorder.
Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Anna Bican

Am J Hum Genet· March 2024

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One is the loneliest number: genotypic matchmaking using the electronic health record.
Elly Brokamp, Mary E Koziura, John A Phillips, Leigh Anne Tang, Joy D Cogan, Anna Bican

Genet Med· October 2021

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, Joel B Krier, Kimberly LeBlanc, Anna Bican

Genet Med· June 2021

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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Kelly Schoch, Cecilia Esteves, Anna Bican, Rebecca Spillmann, Heidi Cope

Genet Med· February 2021

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Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Kendall J Burdick, Joy D Cogan, Lynette C Rives, Amy K Robertson, Mary E Koziura, Anna Bican

Am J Med Genet A· June 2020

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Phenotypic heterogeneity of ZMPSTE24 deficiency.
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig

Am J Med Genet A· May 2018

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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Daniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, David N Cooper, Tyler Reimschisel, Anna Bican

Am J Med Genet A· March 2018

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