Publications by authors named "Suneeta Madan-Khetarpal"

45Publications

Copy number alterations involving 59 ACMG-recommended secondary findings genes.

Clin Genet 2020 Dec 10;98(6):577-588. Epub 2020 Oct 10.

Department of Pathology, University of California San Francisco, San Francisco, California, USA.

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December 2020

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Plast Reconstr Surg Glob Open 2019 Dec 30;7(12):e2540. Epub 2019 Dec 30.

Department of Ophthalmology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.

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December 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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January 2020

RASopathy in Patients With Isolated Sagittal Synostosis.

Glob Pediatr Health 2019 12;6:2333794X19846774. Epub 2019 May 12.

Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

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May 2019

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.

Eur J Med Genet 2019 Apr 23;62(4):239-242. Epub 2018 Jul 23.

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.

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

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

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.

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.

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.

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

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.

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.

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.

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

Biomechanical properties of the skin in cutis laxa.

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.

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

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

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

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

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

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

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

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

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.

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