Publications by authors named "Susan Sell"

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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Susan S Sell

medRxiv· December 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Susan S Sell

Eur J Hum Genet· May 2025

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Susan Sell

Eur J Hum Genet· December 2023

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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Susan L Sell

Am J Hum Genet· May 2023

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow, Susan L Sell

Genet Med· October 2022

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Authority in tobacco control in Pacific Small Island Developing States: a qualitative study of multisectoral tobacco governance in Fiji and Vanuatu.
Dori Patay, Ashley Schram, Jeff Collin, Susan Sell, Sharon Friel

Tob Control· July 2022

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Susan L Sell

Genet Med· December 2021

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Susan L Sell

Genet Med· April 2021

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What COVID-19 Reveals About Twenty-First Century Capitalism: Adversity and Opportunity.
Susan K Sell

Development (Rome)· November 2020

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21st-century capitalism: structural challenges for universal health care.
Susan K Sell

Global Health· November 2019

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Redefining the Etiologic Landscape of Cerebellar Malformations.
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, Ghayda M Mirzaa, James T Bennett, Susan Sell

Am J Hum Genet· September 2019

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HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Floor A Duijkers, Andrew McDonald, Georges E Janssens, Marco Lezzerini, Aldo Jongejan, Susan L Sell

Am J Hum Genet· June 2019

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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska van Belle, Sonja A de Munnik, Susan Sell

Am J Hum Genet· February 2019

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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska van Belle, Sonja A de Munnik, Susan Sell

Am J Hum Genet· January 2019

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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Nataliya Di Donato, Alma Kuechler, Samantha Vergano, Wolfram Heinritz, Joann Bodurtha, Susan Sell

Am J Med Genet A· October 2016

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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Cynthia J Curry, Jill A Rosenfeld, Erica Grant, Karen W Gripp, Carol Anderson, Susan Sell

Am J Med Genet A· August 2013

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, James F Gusella, Susan Sell

Am J Hum Genet· February 2013

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Allen N Lamb, Jill A Rosenfeld, Nicholas J Neill, Michael E Talkowski, Ian Blumenthal, Susan Sell, James F Gusella

Hum Mutat· April 2012

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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Susan L Sell

Hum Genet· January 2012

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Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors.
Kathryn B Sheets, Blythe G Crissman, Cori D Feist, Susan L Sell, Lisa R Johnson

J Genet Couns· October 2011

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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Mary C O'Driscoll, Sarah B Daly, Jill E Urquhart, Graeme C M Black, Daniela T Pilz, Susan Sell

Am J Hum Genet· September 2010

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Preferential reduction of beta cells derived from Pax6-MafB pathway in MafB deficient mice.
Wataru Nishimura, Sheldon Rowan, Therese Salameh, Richard L Maas, Susan Bonner-Weir, Susan M Sell

Dev Biol· February 2008

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Whole genome microarray analysis of gene expression in Prader-Willi syndrome.
Douglas C Bittel, Nataliya Kibiryeva, Susan M Sell, Theresa V Strong, Merlin G Butler

Am J Med Genet A· March 2007

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A tiered approach to comparative genomics.
Travis Ptacek, Susan M Sell

Brief Funct Genomic Proteomic· July 2005

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Personalized online information search and visualization.
Dongquan Chen, Helmuth F Orthner, Susan M Sell

BMC Med Inform Decis Mak· March 2005

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