Publications by authors named "Patricia I Bader"

19Publications

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

Authors:
Claudia M B Carvalho Zeynep Coban-Akdemir Hadia Hijazi Bo Yuan Matthew Pendleton Eoghan Harrington John Beaulaurier Sissel Juul Daniel J Turner Rupa S Kanchi Shalini N Jhangiani Donna M Muzny Richard A Gibbs Pawel Stankiewicz John W Belmont Chad A Shaw Sau Wai Cheung Neil A Hanchard V Reid Sutton Patricia I Bader James R Lupski

Genome Med 2019 04 23;11(1):25. Epub 2019 Apr 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX, 77030-3498, USA.

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April 2019

Identification of novel candidate disease genes from de novo exonic copy number variants.

Authors:
Tomasz Gambin Bo Yuan Weimin Bi Pengfei Liu Jill A Rosenfeld Zeynep Coban-Akdemir Amber N Pursley Sandesh C S Nagamani Ronit Marom Sailaja Golla Lauren Dengle Heather G Petrie Reuben Matalon Lisa Emrick Monica B Proud Diane Treadwell-Deering Hsiao-Tuan Chao Hannele Koillinen Chester Brown Nora Urraca Roya Mostafavi Saunder Bernes Elizabeth R Roeder Kimberly M Nugent Patricia I Bader Gary Bellus Michael Cummings Hope Northrup Myla Ashfaq Rachel Westman Robert Wildin Anita E Beck LaDonna Immken Lindsay Elton Shaun Varghese Edward Buchanan Laurence Faivre Mathilde Lefebvre Christian P Schaaf Magdalena Walkiewicz Yaping Yang Sung-Hae L Kang Seema R Lalani Carlos A Bacino Arthur L Beaudet Amy M Breman Janice L Smith Sau Wai Cheung James R Lupski Ankita Patel Chad A Shaw Paweł Stankiewicz

Genome Med 2017 09 21;9(1):83. Epub 2017 Sep 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

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September 2017

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.

Authors:
Minaka Ishibashi Elizabeth Manning Cheryl Shoubridge Monika Krecsmarik Thomas A Hawkins Jean Giacomotto Ting Zhao Thomas Mueller Patricia I Bader Sau W Cheung Pawel Stankiewicz Nicole L Bain Anna Hackett Chilamakuri C S Reddy Alejandro S Mechaly Bernard Peers Stephen W Wilson Boris Lenhard Laure Bally-Cuif Jozef Gecz Thomas S Becker Silke Rinkwitz

Hum Genet 2015 Nov 4;134(11-12):1163-82. Epub 2015 Sep 4.

Department of Physiology, Brain and Mind Research Institute, Sydney Medical School, University of Sydney, 94 Mallet Street, Camperdown, NSW, 2050, Australia.

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November 2015

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Authors:
Sophia B Hufnagel K Nicole Weaver Robert B Hufnagel Patricia I Bader Elizabeth K Schorry Robert J Hopkin

Am J Med Genet A 2014 Oct 4;164A(10):2607-12. Epub 2014 Aug 4.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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October 2014

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Authors:
Sirisha Peddibhotla Sandesh C S Nagamani Ayelet Erez Jill V Hunter J Lloyd Holder Mary E Carlin Patricia I Bader Helene M F Perras Judith E Allanson Leslie Newman Gayle Simpson LaDonna Immken Erin Powell Aaron Mohanty Sung-Hae L Kang Pawel Stankiewicz Carlos A Bacino Weimin Bi Ankita Patel Sau W Cheung

Eur J Hum Genet 2015 Jan 16;23(1):54-60. Epub 2014 Apr 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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January 2015

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Authors:
Claudia Soler-Alfonso Claudia M B Carvalho Jun Ge Erin K Roney Patricia I Bader Katarzyna E Kolodziejska Rachel M Miller James R Lupski Pawel Stankiewicz Sau Wai Cheung Weimin Bi Christian P Schaaf

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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September 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Authors:
Anath C Lionel Kristiina Tammimies Andrea K Vaags Jill A Rosenfeld Joo Wook Ahn Daniele Merico Abdul Noor Cassandra K Runke Vamsee K Pillalamarri Melissa T Carter Matthew J Gazzellone Bhooma Thiruvahindrapuram Christina Fagerberg Lone W Laulund Giovanna Pellecchia Sylvia Lamoureux Charu Deshpande Jill Clayton-Smith Ann C White Susan Leather John Trounce H Melanie Bedford Eli Hatchwell Peggy S Eis Ryan K C Yuen Susan Walker Mohammed Uddin Michael T Geraghty Sarah M Nikkel Eva M Tomiak Bridget A Fernandez Noam Soreni Jennifer Crosbie Paul D Arnold Russell J Schachar Wendy Roberts Andrew D Paterson Joyce So Peter Szatmari Christina Chrysler Marc Woodbury-Smith R Brian Lowry Lonnie Zwaigenbaum Divya Mandyam John Wei Jeffrey R Macdonald Jennifer L Howe Thomas Nalpathamkalam Zhuozhi Wang Daniel Tolson David S Cobb Timothy M Wilks Mark J Sorensen Patricia I Bader Yu An Bai-Lin Wu Sebastiano Antonino Musumeci Corrado Romano Diana Postorivo Anna M Nardone Matteo Della Monica Gioacchino Scarano Leonardo Zoccante Francesca Novara Orsetta Zuffardi Roberto Ciccone Vincenzo Antona Massimo Carella Leopoldo Zelante Pietro Cavalli Carlo Poggiani Ugo Cavallari Bob Argiropoulos Judy Chernos Charlotte Brasch-Andersen Marsha Speevak Marco Fichera Caroline Mackie Ogilvie Yiping Shen Jennelle C Hodge Michael E Talkowski Dimitri J Stavropoulos Christian R Marshall Stephen W Scherer

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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May 2014

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Authors:
Wojciech Wiszniewski Jill V Hunter Neil A Hanchard Jason R Willer Chad Shaw Qi Tian Anna Illner Xueqing Wang Sau W Cheung Ankita Patel Ian M Campbell Violet Gelowani Patricia Hixson Audrey R Ester Mahshid S Azamian Lorraine Potocki Gladys Zapata Patricia P Hernandez Melissa B Ramocki Regie L P Santos-Cortez Gao Wang Michele K York Monica J Justice Zili D Chu Patricia I Bader Lisa Omo-Griffith Nirupama S Madduri Gunter Scharer Heather P Crawford Pattamawadee Yanatatsaneejit Anna Eifert Jeffery Kerr Carlos A Bacino Adiaha I A Franklin Robin P Goin-Kochel Gayle Simpson Ladonna Immken Muhammad E Haque Marija Stosic Misti D Williams Thomas M Morgan Sumit Pruthi Reed Omary Simeon A Boyadjiev Kay K Win Aye Thida Matthew Hurles Martin Lloyd Hibberd Chiea Chuen Khor Nguyen Van Vinh Chau Thomas E Gallagher Apiwat Mutirangura Pawel Stankiewicz Arthur L Beaudet Mirjana Maletic-Savatic Jill A Rosenfeld Lisa G Shaffer Erica E Davis John W Belmont Sarah Dunstan Cameron P Simmons Penelope E Bonnen Suzanne M Leal Nicholas Katsanis James R Lupski Seema R Lalani

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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August 2013

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Authors:
Gea Beunders Els Voorhoeve Christelle Golzio Luba M Pardo Jill A Rosenfeld Michael E Talkowski Ingrid Simonic Anath C Lionel Sarah Vergult Robert E Pyatt Jiddeke van de Kamp Aggie Nieuwint Marjan M Weiss Patrizia Rizzu Lucilla E N I Verwer Rosalina M L van Spaendonk Yiping Shen Bai-lin Wu Tingting Yu Yongguo Yu Colby Chiang James F Gusella Amelia M Lindgren Cynthia C Morton Ellen van Binsbergen Saskia Bulk Els van Rossem Olivier Vanakker Ruth Armstrong Soo-Mi Park Lynn Greenhalgh Una Maye Nicholas J Neill Kristin M Abbott Susan Sell Roger Ladda Darren M Farber Patricia I Bader Tom Cushing Joanne M Drautz Laura Konczal Patricia Nash Emily de Los Reyes Melissa T Carter Elizabeth Hopkins Christian R Marshall Lucy R Osborne Karen W Gripp Devon Lamb Thrush Sayaka Hashimoto Julie M Gastier-Foster Caroline Astbury Bauke Ylstra Hanne Meijers-Heijboer Danielle Posthuma Björn Menten Geert Mortier Stephen W Scherer Evan E Eichler Santhosh Girirajan Nicholas Katsanis Alexander J Groffen Erik A Sistermans

Am J Hum Genet 2013 Feb 17;92(2):210-20. Epub 2013 Jan 17.

Department of Clinical Genetics, VU University Medical Center, Amsterdam 1007 MB, The Netherlands.

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February 2013

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Authors:
Christian P Schaaf Philip M Boone Srirangan Sampath Charles Williams Patricia I Bader Jennifer M Mueller Oleg A Shchelochkov Chester W Brown Heather P Crawford James A Phalen Nicole R Tartaglia Patricia Evans William M Campbell Anne Chun-Hui Tsai Lea Parsley Stephanie W Grayson Angela Scheuerle Carol D Luzzi Sandra K Thomas Patricia A Eng Sung-Hae L Kang Ankita Patel Pawel Stankiewicz Sau W Cheung

Eur J Hum Genet 2012 Dec 23;20(12):1240-7. Epub 2012 May 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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December 2012

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Authors:
Avinash V Dharmadhikari Sung-Hae L Kang Przemyslaw Szafranski Richard E Person Srirangan Sampath Siddharth K Prakash Patricia I Bader John A Phillips Vickie Hannig Misti Williams Sherry S Vinson Angus A Wilfong Tyler E Reimschisel William J Craigen Ankita Patel Weimin Bi James R Lupski John Belmont Sau Wai Cheung Pawel Stankiewicz

Hum Mol Genet 2012 Aug 27;21(15):3345-55. Epub 2012 Apr 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room R809, Houston, TX 77030, USA.

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August 2012

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Authors:
Allen N Lamb Jill A Rosenfeld Nicholas J Neill Michael E Talkowski Ian Blumenthal Santhosh Girirajan Debra Keelean-Fuller Zheng Fan Jill Pouncey Cathy Stevens Loren Mackay-Loder Deborah Terespolsky Patricia I Bader Kenneth Rosenbaum Stephanie E Vallee John B Moeschler Roger Ladda Susan Sell Judith Martin Shawnia Ryan Marilyn C Jones Rocio Moran Amy Shealy Suneeta Madan-Khetarpal Juliann McConnell Urvashi Surti Andrée Delahaye Bénédicte Heron-Longe Eva Pipiras Brigitte Benzacken Sandrine Passemard Alain Verloes Bertrand Isidor Cedric Le Caignec Gwen M Glew Kent E Opheim Maria Descartes Evan E Eichler Cynthia C Morton James F Gusella Roger A Schultz Blake C Ballif Lisa G Shaffer

Hum Mutat 2012 Apr;33(4):728-40

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington 99207, USA.

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April 2012

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.

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January 2012

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Authors:
Anne M Slavotinek Jill A Rosenfeld Ryan Chao Dimitry Niyazov Marthand Eswara Patricia I Bader David W Stockton Pawel Stankiewicz Margaret P Adam

Am J Med Genet A 2011 May 7;155A(5):1196-201. Epub 2011 Apr 7.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, 94143-0748, USA.

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May 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Authors:
Amy M Breman Melissa B Ramocki Sung-Hae L Kang Misti Williams Debra Freedenberg Ankita Patel Patricia I Bader Sau Wai Cheung

Eur J Hum Genet 2011 Apr 1;19(4):409-15. Epub 2010 Dec 1.

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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April 2011

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

Authors:
Melissa B Ramocki Magdalena Bartnik Przemyslaw Szafranski Katarzyna E Kołodziejska Zhilian Xia Jaclyn Bravo G Steve Miller Diana L Rodriguez Charles A Williams Patricia I Bader Elżbieta Szczepanik Tomasz Mazurczak Dorota Antczak-Marach James G Coldwell Cigdem I Akman Karen McAlmon Melinda P Cohen James McGrath Elizabeth Roeder Jennifer Mueller Sung-Hae L Kang Carlos A Bacino Ankita Patel Ewa Bocian Chad A Shaw Sau Wai Cheung Tadeusz Mazurczak Paweł Stankiewicz

Am J Hum Genet 2010 Dec 25;87(6):857-65. Epub 2010 Nov 25.

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

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December 2010

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Authors:
Ruxandra Bachmann-Gagescu Heather C Mefford Charles Cowan Gwen M Glew Anne V Hing Stephanie Wallace Patricia I Bader Aline Hamati Pamela J Reitnauer Rosemarie Smith David W Stockton Hiltrud Muhle Ingo Helbig Evan E Eichler Blake C Ballif Jill Rosenfeld Karen D Tsuchiya

Genet Med 2010 Oct;12(10):641-7

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

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October 2010

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Authors:
Nicola Brunetti-Pierri Jonathan S Berg Fernando Scaglia John Belmont Carlos A Bacino Trilochan Sahoo Seema R Lalani Brett Graham Brendan Lee Marwan Shinawi Joseph Shen Sung-Hae L Kang Amber Pursley Timothy Lotze Gail Kennedy Susan Lansky-Shafer Christine Weaver Elizabeth R Roeder Theresa A Grebe Georgianne L Arnold Terry Hutchison Tyler Reimschisel Stephen Amato Michael T Geragthy Jeffrey W Innis Ewa Obersztyn Beata Nowakowska Sally S Rosengren Patricia I Bader Dorothy K Grange Sayed Naqvi Adolfo D Garnica Saunder M Bernes Chin-To Fong Anne Summers W David Walters James R Lupski Pawel Stankiewicz Sau Wai Cheung Ankita Patel

Nat Genet 2008 Dec;40(12):1466-71

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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December 2008

New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.

Authors:
Elizabeth S Moore Richard E Ward Paul L Jamison Colleen A Morris Patricia I Bader Bryan D Hall

Am J Med Genet 2002 May;109(4):249-60

St. Vincent Hospitals and Health Services, 2001 West 86th Street, PO Box 40970, Indianapolis, IN 46240, USA.

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May 2002