Publications by authors named "Cathy Stevens"

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Novel variants in the SOX11 gene: clinical description of seven new patients.
Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, Nicole de Leeuw, Gabriela Roldão Correia-Costa, Cathy Stevens

Eur J Hum Genet· December 2024

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Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
Morten Alstrup, Fabrizia Cesca, Alicja Krawczun-Rygmaczewska, Celia López-Menéndez, Julia Pose-Utrilla, Cathy Stevens

Genet Med· November 2024

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A Genotype/Phenotype Study of -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre, Cathy A Stevens

Genes (Basel)· August 2024

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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Cathy A Stevens, Markus F Stevens

J Med Genet· May 2024

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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Courtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael J Lyons, Cathy A Stevens

Prenat Diagn· February 2024

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Cathy Stevens

Am J Med Genet A· August 2023

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Cathy A Stevens

Am J Hum Genet· February 2022

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Response to Hamosh et al.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, Cathy A Stevens, David A Stevenson

Am J Hum Genet· September 2021

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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Yousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, Stefanie M Geisler, Simone Pelizzari, Cathy A Stevens

Brain· August 2021

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina Gold, Dong Li, Cathy A Stevens

Am J Med Genet A· June 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Cathy A Stevens

J Clin Endocrinol Metab· January 2021

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A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, Cathy A Stevens, David A Stevenson

Am J Hum Genet· January 2021

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Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).
Scott K Ward, Cathy A Stevens, Jennifer Keates-Baleeiro, Manoo Bhakta

J Pediatr Hematol Oncol· May 2020

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Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
Faith Lindsay, Ilse Anderson, Ingrid M Wentzensen, David Suhrbier, Cathy A Stevens

Am J Med Genet A· April 2020

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A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Erica D Smith, Kirsten Blanco, Samin A Sajan, Jesse M Hunter, Deepali N Shinde, Cathy A Stevens

Genet Med· October 2019

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Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Lauren B Carter, Agatino Battaglia, Athena Cherry, Melanie A Manning, Maura Rz Ruzhnikov, Cathy A Stevens

Am J Med Genet A· August 2019

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Congenital lumbar hernia-A feature of diabetic embryopathy?
Cathy A Stevens, Jacob S Hogue, Robert J Hopkin, Rachel C Lombardo, Samantha A Schrier Vergano

Am J Med Genet A· November 2018

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DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Bobby G Ng, Hunter R Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet, Cathy A Stevens

JIMD Rep· August 2018

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A Homozygous RET K666N Genotype With an MEN2A Phenotype.
Tania Jaber, Samuel M Hyde, Gilbert J Cote, Elizabeth G Grubbs, Wesley H Giles, Cathy A Stevens

J Clin Endocrinol Metab· April 2018

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38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.
Cathy A Stevens, Ian Krantz

Am J Med Genet A· April 2018

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Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.
Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Cathy Stevens

Mol Syndromol· June 2017

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The use of for natural control of gastrointestinal nematodes in Merino sheep.
Erika A Van Zyl, Francien S Botha, Kobus J N Eloff, Phumzile P Msuntsha, Peter A Oosthuizen, Cathy Stevens

Onderstepoort J Vet Res· April 2017

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Deletion upstream of SALL1 producing Townes-Brocks syndrome.
Cathy A Stevens, Kristin M May

Am J Med Genet A· September 2016

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Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.
Katherine Marie Varman, Kristen Dunbar, Katrin Usifo, Cathy A Stevens

J Clin Rheumatol· March 2016

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