Publications by authors named "Melissa Maisenbacher"

25Publications

Pericentric inversion (Inv) 9 variant-reproductive risk factor or benign finding?

Authors:
Katrina Merrion Melissa Maisenbacher

J Assist Reprod Genet 2019 Dec 16;36(12):2557-2561. Epub 2019 Nov 16.

Natera, Inc., San Carlos, CA, USA.

View Article and Find Full Text PDF
December 2019

Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages.

Authors:
Melissa K Maisenbacher Katrina Merrion William H Kutteh

Fertil Steril 2019 10 5;112(4):700-706. Epub 2019 Aug 5.

Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Memphis, Tennessee; Fertility Associates of Memphis, Memphis, Tennessee. Electronic address:

View Article and Find Full Text PDF
October 2019

Neutropenia in Barth syndrome: characteristics, risks, and management.

Authors:
Colin G Steward Sarah J Groves Carolyn T Taylor Melissa K Maisenbacher Birgitta Versluys Ruth A Newbury-Ecob Hulya Ozsahin Michaela K Damin Valerie M Bowen Katherine R McCurdy Michael C Mackey Audrey A Bolyard David C Dale

Curr Opin Hematol 2019 01;26(1):6-15

Department of Medicine, University of Washington, Seattle, Washington, USA.

View Article and Find Full Text PDF
January 2019

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.

Authors:
Melissa K Maisenbacher Katrina Merrion Barbara Pettersen Michael Young Kiyoung Paik Sushma Iyengar Stephanie Kareht Styrmir Sigurjonsson Zachary P Demko Kimberly A Martin

Mol Cytogenet 2017 9;10. Epub 2017 Mar 9.

Natera, Inc., 201 Industrial Road, San Carlos, 94070 CA USA.

View Article and Find Full Text PDF
March 2017

Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens.

Authors:
Meera Sridhar Shah Cengiz Cinnioglu Melissa Maisenbacher Ioanna Comstock Jonathan Kort Ruth Bunker Lathi

Fertil Steril 2017 Apr 7;107(4):1028-1033. Epub 2017 Mar 7.

Stanford University Reproductive Health and Fertility Center, Palo Alto, California.

View Article and Find Full Text PDF
April 2017

Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis.

Authors:
Brynn Levy Styrmir Sigurjonsson Barbara Pettersen Melissa K Maisenbacher Megan P Hall Zachary Demko Ruth B Lathi Rosina Tao Vimla Aggarwal Matthew Rabinowitz

Obstet Gynecol 2014 Aug;124(2 Pt 1):202-209

Department of Pathology and Cell Biology, Columbia University, New York, New York; the Departments of Statistics, Genetic Counseling, Research and Development, and Operations, Natera Inc., San Carlos, and the Reproductive Endocrinology and Infertility Division, Stanford University, Palo Alto, California.

View Article and Find Full Text PDF
August 2014

Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens.

Authors:
Ruth B Lathi Stephanie L F Gustin Jennifer Keller Melissa K Maisenbacher Styrmir Sigurjonsson Rosina Tao Zach Demko

Fertil Steril 2014 Jan 29;101(1):178-82. Epub 2013 Oct 29.

Natera, Inc., San Carlos, California.

View Article and Find Full Text PDF
January 2014

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Authors:
Sandy Chan Hsu Renee L Sears Roberta R Lemos Beatriz Quintáns Alden Huang Elizabeth Spiteri Lisette Nevarez Catherine Mamah Mayana Zatz Kerrie D Pierce Janice M Fullerton John C Adair Jon E Berner Matthew Bower Henry Brodaty Olga Carmona Valerija Dobricić Brent L Fogel Daniel García-Estevez Jill Goldman John L Goudreau Suellen Hopfer Milena Janković Serge Jaumà Joanna C Jen Suppachok Kirdlarp Joerg Klepper Vladimir Kostić Anthony E Lang Agnès Linglart Melissa K Maisenbacher Bala V Manyam Pietro Mazzoni Zofia Miedzybrodzka Witoon Mitarnun Philip B Mitchell Jennifer Mueller Ivana Novaković Martin Paucar Henry Paulson Sheila A Simpson Per Svenningsson Paul Tuite Jerrold Vitek Suppachok Wetchaphanphesat Charles Williams Michele Yang Peter R Schofield João R M de Oliveira María-Jesús Sobrido Daniel H Geschwind Giovanni Coppola

Neurogenetics 2013 Feb 20;14(1):11-22. Epub 2013 Jan 20.

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

View Article and Find Full Text PDF
February 2013

The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.

Authors:
Amy E Roberts Connie Nixon Colin G Steward Kimberly Gauvreau Melissa Maisenbacher Matthew Fletcher Judith Geva Barry J Byrne Carolyn T Spencer

Am J Med Genet A 2012 Nov 8;158A(11):2726-32. Epub 2012 Oct 8.

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA.

View Article and Find Full Text PDF
November 2012

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome.

Authors:
W Todd Cade Carolyn T Spencer Dominic N Reeds Alan D Waggoner Robert O'Connor Melissa Maisenbacher Jan R Crowley Barry J Byrne Linda R Peterson

J Inherit Metab Dis 2013 Jan 12;36(1):91-101. Epub 2012 May 12.

Program in Physical Therapy & Department of Medicine, Washington University School of Medicine, Box 8502, St Louis, MO 63108, USA.

View Article and Find Full Text PDF
January 2013

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Authors:
Jill A Rosenfeld Dina Amrom Eva Andermann Frederick Andermann Martin Veilleux Cynthia Curry Jamie Fisher Stephen Deputy Arthur S Aylsworth Cynthia M Powell Kandamurugu Manickam Bryce Heese Melissa Maisenbacher Cathy Stevens Jay W Ellison Sheila Upton John Moeschler Wilfredo Torres-Martinez Abby Stevens Robert Marion Elaine Maria Pereira Melanie Babcock Bernice Morrow Trilochan Sahoo Allen N Lamb Blake C Ballif Alex R Paciorkowski Lisa G Shaffer

Neurogenetics 2012 Feb 5;13(1):31-47. Epub 2012 Jan 5.

Signature Genomic Laboratories, PerkinElmer, Inc., 2820 N. Astor St., Spokane, WA 99207, USA.

View Article and Find Full Text PDF
February 2012

Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome.

Authors:
Carolyn T Spencer Barry J Byrne Randall M Bryant Renee Margossian Melissa Maisenbacher Petar Breitenger Paul B Benni Sharon Redfearn Edward Marcus W Todd Cade

Am J Physiol Heart Circ Physiol 2011 Nov 26;301(5):H2122-9. Epub 2011 Aug 26.

Division of Cardiology, Department of Pediatrics, East Carolina University, Greenville, North Carolina, USA.

View Article and Find Full Text PDF
November 2011

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Authors:
Jennifer J Johnston Julie C Sapp Joyce T Turner David Amor Salim Aftimos Kyrieckos A Aleck Maureen Bocian Joann N Bodurtha Gerald F Cox Cynthia J Curry Ruth Day Dian Donnai Michael Field Ikuma Fujiwara Michael Gabbett Moran Gal John M Graham Peter Hedera Raoul C M Hennekam Joseph H Hersh Robert J Hopkin Hülya Kayserili Alexa M J Kidd Virginia Kimonis Angela E Lin Sally Ann Lynch Melissa Maisenbacher Sahar Mansour Julie McGaughran Lakshmi Mehta Helen Murphy Margarita Raygada Nathaniel H Robin Alan F Rope Kenneth N Rosenbaum G Bradley Schaefer Amy Shealy Wendy Smith Maria Soller Annmarie Sommer Heather J Stalker Bernhard Steiner Mark J Stephan David Tilstra Susan Tomkins Pamela Trapane Anne Chun-Hui Tsai Margot I Van Allen Pradeep C Vasudevan Bernhard Zabel Janice Zunich Graeme C M Black Leslie G Biesecker

Hum Mutat 2010 Oct;31(10):1142-54

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

View Article and Find Full Text PDF
October 2010

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

Authors:
Carol Gallione Arthur S Aylsworth Jill Beis Terri Berk Barbara Bernhardt Robin D Clark Carol Clericuzio Cesare Danesino Joanne Drautz Jeffrey Fahl Zheng Fan Marie E Faughnan Arupa Ganguly John Garvie Katharine Henderson Usha Kini Tracey Leedom Mark Ludman Andreas Lux Melissa Maisenbacher Sara Mazzucco Carla Olivieri Johannes K Ploos van Amstel Nadia Prigoda-Lee Reed E Pyeritz Willie Reardon Kirk Vandezande J Deane Waldman Robert I White Charles A Williams Douglas A Marchuk

Am J Med Genet A 2010 Feb;152A(2):333-9

Duke University Medical Center, Durham, North Carolina 27710, USA.

View Article and Find Full Text PDF
February 2010

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Authors:
Paweł Stankiewicz Partha Sen Samarth S Bhatt Mekayla Storer Zhilian Xia Bassem A Bejjani Zhishuo Ou Joanna Wiszniewska Daniel J Driscoll Melissa K Maisenbacher Juan Bolivar Mislen Bauer Elaine H Zackai Donna McDonald-McGinn Małgorzata M J Nowaczyk Mitzi Murray Virginia Hustead Kristin Mascotti Regina Schultz Lavinia Hallam Duncan McRae Andrew G Nicholson Robert Newbury Jane Durham-O'Donnell Gail Knight Usha Kini Tamim H Shaikh Vicki Martin Matthew Tyreman Ingrid Simonic Lionel Willatt Joan Paterson Sarju Mehta Diana Rajan Tomas Fitzgerald Susan Gribble Elena Prigmore Ankita Patel Lisa G Shaffer Nigel P Carter Sau Wai Cheung Claire Langston Charles Shaw-Smith

Am J Hum Genet 2009 Jun 4;84(6):780-91. Epub 2009 Jun 4.

Dept of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article and Find Full Text PDF
June 2009

Identification of copy number variants associated with BPES-like phenotypes.

Authors:
Antoinet C J Gijsbers Barbara D'haene Yvonne Hilhorst-Hofstee Marcel Mannens Beate Albrecht Joerg Seidel David R Witt Melissa K Maisenbacher Bart Loeys Ton van Essen Egbert Bakker Raoul Hennekam Martijn H Breuning Elfride De Baere Claudia A L Ruivenkamp

Hum Genet 2008 Dec 25;124(5):489-98. Epub 2008 Oct 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S-6-P, Einthovenweg 20, 2333 CZ, Leiden, The Netherlands.

View Article and Find Full Text PDF
December 2008

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:
Louise S Bicknell Claire Farrington-Rock Yousef Shafeghati Patrick Rump Yasemin Alanay Yves Alembik Navid Al-Madani Helen Firth Mohammad Hassan Karimi-Nejad Chong Ae Kim Kathryn Leask Melissa Maisenbacher Ellen Moran John G Pappas Paolo Prontera Thomy de Ravel Jean-Pierre Fryns Elizabeth Sweeney Alan Fryer Sheila Unger L C Wilson Ralph S Lachman David L Rimoin Daniel H Cohn Deborah Krakow Stephen P Robertson

J Med Genet 2007 Feb 26;44(2):89-98. Epub 2006 Jun 26.

Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.

View Article and Find Full Text PDF
February 2007

Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.

Authors:
Jia Huang Jodi D Hoffman Yi Zhang Melissa K Maisenbacher Elaine H Zackai Barbara L Weber Jeffrey E Ming

Clin Genet 2006 Apr;69(4):367-9

View Article and Find Full Text PDF
April 2006

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

Authors:
Donna M McDonald-McGinn Karen W Gripp Richard E Kirschner Melissa K Maisenbacher Virginia Hustead Galen M Schauer Kim M Keppler-Noreuil Karen L Ciprero Patrick Pasquariello Don LaRossa Scott P Bartlett Linton A Whitaker Elaine H Zackai

Am J Med Genet A 2005 Aug;136A(4):358-62

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

View Article and Find Full Text PDF
August 2005

Molecular analysis of congenital scoliosis: a candidate gene approach.

Authors:
Melissa K Maisenbacher Ji-Soo Han Megan L O'brien Michael R Tracy Bülent Erol Alyssa A Schaffer John P Dormans Elaine H Zackai Kenro Kusumi

Hum Genet 2005 Apr 17;116(5):416-9. Epub 2005 Feb 17.

Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104-4318, USA.

View Article and Find Full Text PDF
April 2005