Publications by authors named "Allison Goetsch"

9Publications

Impact of cell-free DNA screening on parental knowledge of fetal sex and disorders of sex development.

Authors:
Laurel Sofer Anthony D'Oro Ilina Rosoklija Elizabeth A Leeth Allison L Goetsch Scott Moses Diane Chen Courtney Finlayson Emilie K Johnson

Prenat Diagn 2020 10 17;40(11):1489-1496. Epub 2020 Aug 17.

Division of Urology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

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October 2020

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.

Authors:
Heather B Radtke Amanda L Bergner Allison L Goetsch Caroline McGowan Karin Panzer Ashley Cannon

J Genet Couns 2020 Oct 29;29(5):692-714. Epub 2020 Jun 29.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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October 2020

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Authors:
Aishwarya Arjunan Holly Bellerose Raul Torres Rotem Ben-Shachar Jodi D Hoffman Brad Angle Robert Nathan Slotnick Brittany N Simpson Andrea M Lewis Pilar L Magoulas Kelly Bontempo Jeanine Schulze Jennifer Tarpinian Jessica A Bucher Richard Dineen Allison Goetsch Gabriel A Lazarin Katherine Johansen Taber

Prenat Diagn 2020 09 16;40(10):1246-1257. Epub 2020 Jun 16.

Division of Medical Affairs, Myriad Women's Health, South San Francisco, CA, USA.

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September 2020

Reply by Authors.

Authors:
Emilie K Johnson Deborah L Jacobson Courtney Finlayson Elizabeth B Yerkes Allison L Goetsch Elizabeth A Leeth Earl Y Cheng

J Urol 2020 08 20;204(2):352. Epub 2020 May 20.

Department of Urology, Northwestern University, Evanston, Illinois.

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August 2020

Proximal Hypospadias-Isolated Genital Condition or Marker of More?

Authors:
Emilie K Johnson Deborah L Jacobson Courtney Finlayson Elizabeth B Yerkes Allison L Goetsch Elizabeth A Leeth Earl Y Cheng

J Urol 2020 Aug 24;204(2):345-352. Epub 2020 Feb 24.

Department of Urology, Northwestern University, Evanston, Illinois.

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August 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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January 2020

Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy.

Authors:
Elizabeth Dabrowski Emilie K Johnson Vrunda Patel YeoChing Hsu Shanlee Davis Allison L Goetsch Reema Habiby Wendy J Brickman Courtney Finlayson

J Pediatr Adolesc Gynecol 2020 Feb 26;33(1):10-14. Epub 2019 Aug 26.

Division of Pediatric Endocrinology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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February 2020

Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.

Authors:
Allison L Goetsch Catherine Wicklund Marla L Clayman Teresa K Woodruff

J Genet Couns 2016 06 14;25(3):561-71. Epub 2015 Nov 14.

Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, 303 E. Superior St, Lurie 10-231, Chicago, IL, USA.

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June 2016

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Authors:
Ghayda M Mirzaa Valerio Conti Andrew E Timms Christopher D Smyser Sarah Ahmed Melissa Carter Sarah Barnett Robert B Hufnagel Amy Goldstein Yoko Narumi-Kishimoto Carissa Olds Sarah Collins Kathreen Johnston Jean-François Deleuze Patrick Nitschké Kathryn Friend Catharine Harris Allison Goetsch Beth Martin Evan August Boyle Elena Parrini Davide Mei Lorenzo Tattini Anne Slavotinek Ed Blair Christopher Barnett Jay Shendure Jamel Chelly William B Dobyns Renzo Guerrini

Lancet Neurol 2015 Dec 29;14(12):1182-95. Epub 2015 Oct 29.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address:

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December 2015