Publications by authors named "Cathy Stevens"

47Publications

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Authors:
Leslie G Biesecker Margaret P Adam Fowzan S Alkuraya Anne R Amemiya Michael J Bamshad Anita E Beck James T Bennett Lynne M Bird John C Carey Brian Chung Robin D Clark Timothy C Cox Cynthia Curry Mary Beth Palko Dinulos William B Dobyns Philip F Giampietro Katta M Girisha Ian A Glass John M Graham Karen W Gripp Chad R Haldeman-Englert Bryan D Hall A Micheil Innes Jennifer M Kalish Kim M Keppler-Noreuil Kenjiro Kosaki Beth A Kozel Ghayda M Mirzaa John J Mulvihill Malgorzata J M Nowaczyk Roberta A Pagon Kyle Retterer Alan F Rope Pedro A Sanchez-Lara Laurie H Seaver Joseph T Shieh Anne M Slavotinek Andrew K Sobering Cathy A Stevens David A Stevenson Tiong Yang Tan Wen-Hann Tan Anne C Tsai David D Weaver Marc S Williams Elaine Zackai Yuri A Zarate

Am J Hum Genet 2021 Jan;108(1):8-15

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

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January 2021

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sébire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo S van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2021 Jan;106(2):e660-e674

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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January 2021

Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Authors:
Faith Lindsay Ilse Anderson Ingrid M Wentzensen David Suhrbier Cathy A Stevens

Am J Med Genet A 2020 04 31;182(4):623-627. Epub 2020 Jan 31.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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April 2020

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Authors:
Lauren B Carter Agatino Battaglia Athena Cherry Melanie A Manning Maura Rz Ruzhnikov Lynne M Bird Leah Dowsett John M Graham Fowzan S Alkuraya Mais Hashem Mary Beth Dinulos Stephanie Vallee Margaret P Adam Ian Glass Anita E Beck Cathy A Stevens Elaine Zackai Carey McDougall Beth Keena Angela Peron Aglaia Vignoli Laurie H Seaver Thomas P Slavin Louanne Hudgins

Am J Med Genet A 2019 08 17;179(8):1543-1546. Epub 2019 Jun 17.

Stanford University, Stanford, California.

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August 2019

Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).

Authors:
Scott K Ward Cathy A Stevens Jennifer Keates-Baleeiro Manoo Bhakta

J Pediatr Hematol Oncol 2020 05;42(4):e228-e230

University of Tennessee College of Medicine Chattanooga, Chattanooga, TN.

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May 2020

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.

Authors:
Erica D Smith Kirsten Blanco Samin A Sajan Jesse M Hunter Deepali N Shinde Bess Wayburn Mari Rossi Jennifer Huang Cathy A Stevens Candace Muss Wendy Alcaraz Kelly D Farwell Hagman Sha Tang Kelly Radtke

Genet Med 2019 10 21;21(10):2199-2207. Epub 2019 Mar 21.

Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.

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October 2019

Congenital lumbar hernia-A feature of diabetic embryopathy?

Authors:
Cathy A Stevens Jacob S Hogue Robert J Hopkin Rachel C Lombardo Samantha A Schrier Vergano

Am J Med Genet A 2018 11 1;176(11):2243-2249. Epub 2018 Oct 1.

Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.

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November 2018

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Authors:
Bobby G Ng Hunter R Underhill Lars Palm Per Bengtson Jean-Michel Rozet Sylvie Gerber Arnold Munnich Xavier Zanlonghi Cathy A Stevens Martin Kircher Deborah A Nickerson Kati J Buckingham Kevin D Josephson Jay Shendure Michael J Bamshad Hudson H Freeze Erik A Eklund

JIMD Rep 2019 17;44:85-92. Epub 2018 Aug 17.

Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.

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August 2018

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.

Authors:
Cathy A Stevens Ian Krantz

Am J Med Genet A 2018 Apr 25:1463-1536. Epub 2018 Apr 25.

Division of Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania.

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April 2018

A Homozygous RET K666N Genotype With an MEN2A Phenotype.

Authors:
Tania Jaber Samuel M Hyde Gilbert J Cote Elizabeth G Grubbs Wesley H Giles Cathy A Stevens Ramona Dadu

J Clin Endocrinol Metab 2018 04;103(4):1269-1272

Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas, MD Anderson Cancer Center, Houston, Texas.

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April 2018

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

Authors:
Beatrice De Maria Tresia de Jager Caitlin Sarubbi Oliver Bartsch Alberto Bianchi Francesco Brancati Hon-Yin B Chung Albert David Ariana Kariminejad Maura Foresti Marina Gallottini Bertrand Isidor Shannon Marchegiani Fabiana Martins Laura Mazzanti Nathalie Roche Ankur Singh Cathy Stevens Kenichi Suga Martin Zenker Raoul C Hennekam

Mol Syndromol 2017 Jun 27;8(4):172-178. Epub 2017 Apr 27.

Department of Pediatrics and Translational Genetics, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.

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June 2017

The use of Lespedeza cuneata for natural control of gastrointestinal nematodes in Merino sheep.

Authors:
Erika A Van Zyl Francien S Botha Kobus J N Eloff Phumzile P Msuntsha Peter A Oosthuizen Cathy Stevens

Onderstepoort J Vet Res 2017 Apr 11;84(1):e1-e7. Epub 2017 Apr 11.

Dundee Research Station, KZN Department of Agriculture and Rural Development.

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April 2017

Deletion upstream of SALL1 producing Townes-Brocks syndrome.

Authors:
Cathy A Stevens Kristin M May

Am J Med Genet A 2016 Sep 8;170(9):2476-8. Epub 2016 Jun 8.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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September 2016

Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.

Authors:
Katherine Marie Varman Kristen Dunbar Katrin Usifo Cathy A Stevens

J Clin Rheumatol 2016 Mar;22(2):92-3

From the Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN.

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March 2016

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:
Shannon Marchegiani Taylor Davis Federico Tessadori Gijs van Haaften Francesco Brancati Alexander Hoischen Haigen Huang Elise Valkanas Barbara Pusey Denny Schanze Hanka Venselaar Anneke T Vulto-van Silfhout Lynne A Wolfe Cynthia J Tifft Patricia M Zerfas Giovanna Zambruno Ariana Kariminejad Farahnaz Sabbagh-Kermani Janice Lee Maria G Tsokos Chyi-Chia R Lee Victor Ferraz Eduarda Morgana da Silva Cathy A Stevens Nathalie Roche Oliver Bartsch Peter Farndon Eva Bermejo-Sanchez Brian P Brooks Valerie Maduro Bruno Dallapiccola Feliciano J Ramos Hon-Yin Brian Chung Cédric Le Caignec Fabiana Martins Witold K Jacyk Laura Mazzanti Han G Brunner Jeroen Bakkers Shuo Lin May Christine V Malicdan Cornelius F Boerkoel William A Gahl Bert B A de Vries Mieke M van Haelst Martin Zenker Thomas C Markello

Am J Hum Genet 2015 Jul 25;97(1):99-110. Epub 2015 Jun 25.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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July 2015

Intestinal malrotation in Rubinstein-Taybi syndrome.

Authors:
Cathy A Stevens

Am J Med Genet A 2015 Oct 19;167A(10):2399-401. Epub 2015 Jun 19.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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October 2015

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Authors:
Jessica X Chong Margaret J McMillin Kathryn M Shively Anita E Beck Colby T Marvin Jose R Armenteros Kati J Buckingham Naomi T Nkinsi Evan A Boyle Margaret N Berry Maureen Bocian Nicola Foulds Maria Luisa Giovannucci Uzielli Chad Haldeman-Englert Raoul C M Hennekam Paige Kaplan Antonie D Kline Catherine L Mercer Malgorzata J M Nowaczyk Jolien S Klein Wassink-Ruiter Elizabeth W McPherson Regina A Moreno Angela E Scheuerle Vandana Shashi Cathy A Stevens John C Carey Arnaud Monteil Philippe Lory Holly K Tabor Joshua D Smith Jay Shendure Deborah A Nickerson Michael J Bamshad

Am J Hum Genet 2015 Mar 12;96(3):462-73. Epub 2015 Feb 12.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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March 2015

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Authors:
Denny Schanze Magdalena Harakalova Cathy A Stevens Francesco Brancati Bruno Dallapiccola Peter Farndon Victor E F Ferraz Donna M McDonald-McGinn Elaine H Zackai Michael Wright Stef van Lieshout Maartje J Vogel Mieke M van Haelst Martin Zenker

Am J Med Genet A 2013 Dec 24;161A(12):3012-7. Epub 2013 Sep 24.

Institute of Human Genetics, University Hospital Magdeburg, Germany.

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December 2013

Investigation of NRXN1 deletions: clinical and molecular characterization.

Authors:
Mindy Preston Dabell Jill A Rosenfeld Patricia Bader Luis F Escobar Dima El-Khechen Stephanie E Vallee Mary Beth Palko Dinulos Cynthia Curry Jamie Fisher Raymond Tervo Mark C Hannibal Kiana Siefkas Philip R Wyatt Lauren Hughes Rosemarie Smith Sara Ellingwood Yves Lacassie Tracy Stroud Sandra A Farrell Pedro A Sanchez-Lara Linda M Randolph Dmitriy Niyazov Cathy A Stevens Cheri Schoonveld David Skidmore Sara MacKay Judith H Miles Manikum Moodley Adam Huillet Nicholas J Neill Jay W Ellison Blake C Ballif Lisa G Shaffer

Am J Med Genet A 2013 Apr 12;161A(4):717-31. Epub 2013 Mar 12.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA.

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April 2013