Publications by authors named "Rachel Slaugh"

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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado

Genome Med· October 2025

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Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado

medRxiv· March 2025

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Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.
Rodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, Rachel Slaugh, Dawn Easterlin

Eur J Hum Genet· September 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, Rachel Slaugh

Am J Hum Genet· June 2024

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Xueyang Pan, Alice M Tao, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Rachel Slaugh

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, Rachel Slaugh

Am J Hum Genet· April 2024

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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, Rachel Slaugh

Genet Med· 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, Rachel Slaugh

Genet Med· October 2021

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germline variants result in aberrant neurodevelopment and growth.
Joanna J Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, Rachel Slaugh, Shamile Morgan

HGG Adv· July 2021

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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, Rachel Slaugh

Genet Med· August 2020

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Lysosomal storage diseases.
Linda P Manwaring, Patricia A Jamerson, Rachel Slaugh

RN· July 2008

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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Patrick S Tarpey, F Lucy Raymond, Sarah O'Meara, Sarah Edkins, Jon Teague, Rachel Slaugh

Am J Hum Genet· February 2007

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Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
Rick A Martin, Rachel Slaugh, Marvin Natowicz, Kayla Pearlman, Eduard Orvisky

Am J Med Genet A· July 2003

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