Suneeta Madan-Khetarpal

Medical Genetics & Genomics Laboratories, Magee-Womens Hospital of UPMC, Pittsburgh, PA, Unitetd States; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, Unitetd States; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Unitetd States; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, Unitetd States; Magee-Womens Research Institute, Pittsburgh, PA, Unitetd States. Electronic address:

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April 2019

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Authors:

Magalie S Leduc Marianne Mcguire Suneeta Madan-Khetarpal Damara Ortiz Susan Hayflick Kory Keller Christine M Eng Yaping Yang Weimin Bi

Hum Genet 2018 Mar 19;137(3):257-264. Epub 2018 Mar 19.

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

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March 2018

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

Authors:

Rüstem Yilmaz Katalin Szakszon Anna Altmann Umut Altunoglu Leyli Senturk Marianne McGuire Olga Calabrese Suneeta Madan-Khetarpal Lina Basel-Vanagaite Guntram Borck

Am J Med Genet A 2018 01 21;176(1):187-193. Epub 2017 Nov 21.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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January 2018

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Genome Med 2017 08 14;9(1):73. Epub 2017 Aug 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.

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August 2017

Infant Botulism in the Very Young Neonate: A Case Series.

Authors:

Laura Jackson Suneeta Madan-Khetarpal Monica Naik Marian G Michaels Melissa Riley

AJP Rep 2017 Jul 31;7(3):e163-e166. Epub 2017 Jul 31.

Division of Newborn Medicine, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.

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July 2017

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Authors:

Jie Hu Zhishuo Ou Elena Infante Sally J Kochmar Suneeta Madan-Khetarpal Lori Hoffner Shafagh Parsazad Urvashi Surti

Mol Cytogenet 2017 19;10:24. Epub 2017 Jun 19.

Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.

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June 2017

Aplastic anemia and cytotoxic T lymphocyte antigen-4 haploinsufficiency treated with bone marrow transplantation.

Authors:

Payal Makadia Arvind Srinath Suneeta Madan-Khetarpal Marianne McGuire Elena Infante Jing Zhang Raymond E Felgar Amy W Davis Hey J Chong Randy M Windreich

J Allergy Clin Immunol Pract 2017 Sep - Oct;5(5):1445-1447.e2. Epub 2017 May 9.

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pa; Division of Blood and Marrow Transplantation and Cellular Therapies, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa; Division of Hematology/Oncology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa. Electronic address:

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June 2019

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

Authors:

Andrew Cheng Mary Beth P Dinulos Whitney Neufeld-Kaiser Jill Rosenfeld McKenna Kyriss Suneeta Madan-Khetarpal Hiba Risheg Peter H Byers Yajuan J Liu

Am J Med Genet A 2017 Jul 2;173(7):1848-1857. Epub 2017 May 2.

Department of Pathology, University of Washington School of Medicine, Seattle, Washington.

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July 2017

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

Authors:

Wenjuan Chen Christine Shieh Sharon A Swanger Anel Tankovic Margaret Au Marianne McGuire Michele Tagliati John M Graham Suneeta Madan-Khetarpal Stephen F Traynelis Hongjie Yuan Tyler Mark Pierson

J Hum Genet 2017 Jun 23;62(6):589-597. Epub 2017 Feb 23.

Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

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June 2017

Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.

Authors:

Emir Tas Jessica Sebastian Suneeta Madan-Khetarpal Philip Sweet Alexander N Yatsenko Nijole Pollock Aleksandar Rajkovic Francis X Schneck Svetlana A Yatsenko Selma Feldman Witchel

Am J Med Genet A 2017 Jan 20;173(1):221-224. Epub 2016 Sep 20.

Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.

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January 2017

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:

Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

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

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May 2016

Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

Authors:

You Li Andrea S Garrod Suneeta Madan-Khetarpal Gayathri Sreedher Marianne McGuire Hisato Yagi Nikolai T Klena George C Gabriel Omar Khalifa Maliha Zahid Ashok Panigrahy Daniel J Weiner Cecilia W Lo

Am J Med Genet A 2015 Sep 25;167A(9):2188-96. Epub 2015 Apr 25.

Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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September 2015

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.

Authors:

Chi-Ting Su Jenq-Wen Huang Chih-Kang Chiang Elizabeth C Lawrence Kara L Levine Branka Dabovic Christine Jung Elaine C Davis Suneeta Madan-Khetarpal Zsolt Urban

Hum Mol Genet 2015 Jul 16;24(14):4024-36. Epub 2015 Apr 16.

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, 130 DeSoto Street, Crabtree Hall A300, Pittsburgh, PA 15261, USA,

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July 2015

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Authors:

Jie Hu Malini Sathanoori Sally Kochmar Meron Azage Susan Mann Suneeta Madan-Khetarpal Amy Goldstein Urvashi Surti

Am J Med Genet A 2015 Aug 10;167A(8):1921-6. Epub 2015 Apr 10.

Pittsburgh Cytogenetics Laboratory, Magee- Womens Hospital of UPMC, Pittsburgh, Pennsylvania.

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August 2015

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Authors:

Megan Beck Jess F Peterson Juliann McConnell Marianne McGuire Miya Asato Joseph E Losee Urvashi Surti Suneeta Madan-Khetarpal Aleksandar Rajkovic Svetlana A Yatsenko

Am J Med Genet A 2015 May 21;167A(5):1047-53. Epub 2015 Mar 21.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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May 2015

Biomechanical properties of the skin in cutis laxa.

Authors:

Beth A Kozel Chi-Ting Su Joshua R Danback Ryan L Minster Suneeta Madan-Khetarpal Juliann S McConnell Meghan K Mac Neal Kara L Levine Robert C Wilson Frank C Sciurba Zsolt Urban

J Invest Dermatol 2014 Nov 20;134(11):2836-2838. Epub 2014 May 20.

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA. Electronic address:

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November 2014

Clear cell sarcoma of the kidney in a child with Fanconi anemia.

Authors:

Humberto E Trejo Bittar Josiah E Radder Sarangarajan Ranganathan Abhay Srinivasan Suneeta Madan-Khetarpal Miguel Reyes-Múgica

Pediatr Dev Pathol 2014 Jul-Aug;17(4):297-301. Epub 2014 Apr 15.

1 Division of Pediatric Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

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October 2014

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Authors:

Jess F Peterson Lina Ghaloul-Gonzalez Suneeta Madan-Khetarpal Jessica Hartman Urvashi Surti Aleksandar Rajkovic Svetlana A Yatsenko

Am J Med Genet A 2014 Feb;164A(2):364-9

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February 2014

Array CGH as a first-tier test for neonates with congenital heart disease.

Authors:

Kristine K Bachman Stephanie J DeWard Constantinos Chrysostomou Ricardo Munoz Suneeta Madan-Khetarpal

Cardiol Young 2015 Jan 6;25(1):115-22. Epub 2013 Nov 6.

2Department of Pediatrics,School of Medicine, University of Pittsburgh,Pittsburgh,Pennsylvania,United States of America.

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January 2015

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Authors:

Jie Hu Malini Sathanoori Sally Kochmar Suneeta Madan-Khetarpal Marianne McGuire Urvashi Surti

Am J Med Genet A 2013 Jan 7;161A(1):179-84. Epub 2012 Dec 7.

Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA.

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January 2013

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Hum Mutat 2013 Jan 13;34(1):111-21. Epub 2012 Aug 13.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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January 2013

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

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

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

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April 2012

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

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

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

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April 2012

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Authors:

Jun Liao Stephanie J DeWard Suneeta Madan-Khetarpal Urvashi Surti Jie Hu

Am J Med Genet A 2011 Nov 11;155A(11):2795-800. Epub 2011 Oct 11.

Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

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November 2011

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Authors:

Paweł Stankiewicz Shashikant Kulkarni Avinash V Dharmadhikari Srirangan Sampath Samarth S Bhatt Tamim H Shaikh Zhilian Xia Amber N Pursley M Lance Cooper Marwan Shinawi Alex R Paciorkowski Dorothy K Grange Michael J Noetzel Scott Saunders Paul Simons Marshall Summar Brendan Lee Fernando Scaglia Florence Fellmann Danielle Martinet Jacques S Beckmann Alexander Asamoah Kathryn Platky Susan Sparks Ann S Martin Suneeta Madan-Khetarpal Jacqueline Hoover Livija Medne Carsten G Bonnemann John B Moeschler Stephanie E Vallee Sumit Parikh Polly Irwin Victoria P Dalzell Wendy E Smith Valerie C Banks David B Flannery Carolyn M Lovell Gary A Bellus Kathryn Golden-Grant Jerome L Gorski Jennifer L Kussmann Tracy L McGregor Rizwan Hamid Jean Pfotenhauer Blake C Ballif Chad A Shaw Sung-Hae L Kang Carlos A Bacino Ankita Patel Jill A Rosenfeld Sau Wai Cheung Lisa G Shaffer

Hum Mutat 2012 Jan 2;33(1):165-79. Epub 2011 Nov 2.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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January 2012

Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.

Authors:

Mariana M Cajaiba Selma Witchel Suneeta Madan-Khetarpal Jaqueline Hoover Lori Hoffner Trevor Macpherson Urvashi Surti

Am J Med Genet A 2011 Aug 7;155A(8):1996-2002. Epub 2011 Jul 7.

Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA.

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August 2011

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Am J Hum Genet 2011 Feb 3;88(2):138-49. Epub 2011 Feb 3.

Division of Morphogenesis, National Institute for Basic Biology, 38 Nishigonaka, Myodaiji, Okazaki, Japan.

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February 2011

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Am J Hum Genet 2011 Feb 3;88(2):138-49. Epub 2011 Feb 3.

Division of Morphogenesis, National Institute for Basic Biology, 38 Nishigonaka, Myodaiji, Okazaki, Japan.

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February 2011

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Authors:

Jie Hu Suneeta Madan-Khetarpal Alvaro H Serrano Russi Sally Kochmar Stephanie J Deward Malini Sathanoori Urvashi Surti

Genet Res Int 2011 17;2011:185271. Epub 2011 Jul 17.

Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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August 2012

Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.

Authors:

Shobhit Madan Suneeta Madan-Khetarpal Sang C Park Urvashi Surti Ariel L Bailey Juliann McConnell Sameh S Tadros

Am J Med Genet A 2010 May;152A(5):1295-9

Department of Radiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.

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May 2010

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.

Authors:

Blake C Ballif Aaron Theisen Justine Coppinger Gordon C Gowans Joseph H Hersh Suneeta Madan-Khetarpal Karen R Schmidt Raymond Tervo Luis F Escobar Christopher A Friedrich Marie McDonald Lindsey Campbell Jeffrey E Ming Elaine H Zackai Bassem A Bejjani Lisa G Shaffer

Mol Cytogenet 2008 Apr 28;1. Epub 2008 Apr 28.

Signature Genomic Laboratories, LLC, Spokane, WA, USA.

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April 2008

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

Authors:

Blake C Ballif Sara A Hornor Elizabeth Jenkins Suneeta Madan-Khetarpal Urvashi Surti Kelly E Jackson Alexander Asamoah Pamela L Brock Gordon C Gowans Robert L Conway John M Graham Livija Medne Elaine H Zackai Tamim H Shaikh Joel Geoghegan Rebecca R Selzer Peggy S Eis Bassem A Bejjani Lisa G Shaffer

Nat Genet 2007 Sep 19;39(9):1071-3. Epub 2007 Aug 19.

Signature Genomic Laboratories, Spokane, Washington 99202, USA.

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September 2007

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