Publications by authors named "Susan L Sell"

4Publications

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Authors:
Sacha Ferdinandusse Kirsty McWalter Heleen Te Brinke Lodewijk IJlst Petra M Mooijer Jos P N Ruiter Alida E M van Lint Mia Pras-Raves Eric Wever Francisca Millan Maria J Guillen Sacoto Amber Begtrup Mark Tarnopolsky Lauren Brady Roger L Ladda Susan L Sell Catherine B Nowak Jessica Douglas Cuixia Tian Elizabeth Ulm Seth Perlman Arlene V Drack Karen Chong Nicole Martin Jennifer Brault Elly Brokamp Camilo Toro William A Gahl Ellen F Macnamara Lynne Wolfe Quinten Waisfisz Petra J G Zwijnenburg Alban Ziegler Magalie Barth Rosemarie Smith Sara Ellingwood Deborah Gaebler-Spira Somayeh Bakhtiari Michael C Kruer Antoine H C van Kampen Ronald J A Wanders Hans R Waterham David Cassiman Frédéric M Vaz

Genet Med 2020 Nov 26. Epub 2020 Nov 26.

Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
November 2020

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

Authors:
Floor A Duijkers Andrew McDonald Georges E Janssens Marco Lezzerini Aldo Jongejan Silvana van Koningsbruggen Wendela G Leeuwenburgh-Pronk Marcin W Wlodarski Sébastien Moutton Frédéric Tran-Mau-Them Christel Thauvin-Robinet Laurence Faivre Kristin G Monaghan Thomas Smol Odile Boute-Benejean Roger L Ladda Susan L Sell Ange-Line Bruel Riekelt H Houtkooper Alyson W MacInnes

Am J Hum Genet 2019 06 9;104(6):1040-1059. Epub 2019 May 9.

Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. Electronic address:

View Article and Find Full Text PDF
June 2019

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.

Authors:
Blake C Ballif Jill A Rosenfeld Ryan Traylor Aaron Theisen Patricia I Bader Roger L Ladda Susan L Sell Michelle Steinraths Urvashi Surti Marianne McGuire Shelley Williams Sandra A Farrell James Filiano Rhonda E Schnur Lauren B Coffey Raymond C Tervo Tracy Stroud Michael Marble Michael Netzloff Kristen Hanson Arthur S Aylsworth J S Bamforth Deepti Babu Dmitriy M Niyazov J Britt Ravnan Roger A Schultz Allen N Lamb Beth S Torchia Bassem A Bejjani Lisa G Shaffer

Hum Genet 2012 Jan 29;131(1):145-56. Epub 2011 Jul 29.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

View Article and Find Full Text PDF
January 2012

Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors.

Authors:
Kathryn B Sheets Blythe G Crissman Cori D Feist Susan L Sell Lisa R Johnson Kelly C Donahue Diane Masser-Frye Gail S Brookshire Amanda M Carre Danielle Lagrave Campbell K Brasington

J Genet Couns 2011 Oct 27;20(5):432-41. Epub 2011 May 27.

Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.

View Article and Find Full Text PDF
October 2011