Publications Authored by Suneeta Madan-Khetarpal

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 Jan 29;87(2):100-112. Epub 2019 Jun 29.

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

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349	PMC

January 2020

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

Authors:

Jie Hu Zhishuo Ou Urvashi Surti Sally Kochmar Lori Hoffner Suneeta Madan-Khetarpal Georgianne L Arnold Leslie Walsh Roxanne Acquaro Jessica Sebastian Svetlana A Yatsenko

Am J Med Genet A 2020 Jan 8. Epub 2020 Jan 8.

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

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http://dx.doi.org/10.1002/ajmg.a.61482	DOI Listing

January 2020

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Genet Med 2019 12 2;21(12):2755-2764. Epub 2019 Jul 2.

Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41436-019-0576-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895419	PMC

December 2019

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Genet Med 2019 Dec 20. Epub 2019 Dec 20.

Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41436-019-0732-6	DOI Listing

December 2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Mol Autism 2019 22;10:35. Epub 2019 Oct 22.

21Department of Biology, Chungnam National University, Daejeon, Korea.

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http://dx.doi.org/10.1186/s13229-019-0286-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805429	PMC

October 2019

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.

Authors:

Lina Ghaloul-Gonzalez Al-Walid Mohsen Anuradha Karunanidhi Bianca Seminotti Hey Chong Suneeta Madan-Khetarpal Jessica Sebastian Catherine Walsh Vockley Miguel Reyes-Múgica Mark T Vander Lugt Jerry Vockley

Sci Rep 2019 Oct 31;9(1):15739. Epub 2019 Oct 31.

Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1038/s41598-019-51922-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823482	PMC

October 2019

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Authors:

Hui Guo Ying Li Lu Shen Tianyun Wang Xiangbin Jia Lijuan Liu Tao Xu Mengzhu Ou Kendra Hoekzema Huidan Wu Madelyn A Gillentine Cenying Liu Hailun Ni Pengwei Peng Rongjuan Zhao Yu Zhang Chanika Phornphutkul Alexander P A Stegmann Carlos E Prada Robert J Hopkin Joseph T Shieh Kirsty McWalter Kristin G Monaghan Peter M van Hasselt Koen van Gassen Ting Bai Min Long Lin Han Yingting Quan Meilin Chen Yaowen Zhang Kuokuo Li Qiumeng Zhang Jieqiong Tan Tengfei Zhu Yaning Liu Nan Pang Jing Peng Daryl A Scott Seema R Lalani Mahshid Azamian Grazia M S Mancini Darius J Adams Malin Kvarnung Anna Lindstrand Ann Nordgren Jonathan Pevsner Ikeoluwa A Osei-Owusu Corrado Romano Giuseppe Calabrese Ornella Galesi Jozef Gecz Eric Haan Judith Ranells Melissa Racobaldo Magnus Nordenskjold Suneeta Madan-Khetarpal Jessica Sebastian Susie Ball Xiaobing Zou Jingping Zhao Zhengmao Hu Fan Xia Pengfei Liu Jill A Rosenfeld Bert B A de Vries Raphael A Bernier Zhi-Qing David Xu Honghui Li Wei Xie Robert B Hufnagel Evan E Eichler Kun Xia

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934	PMC

September 2019

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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http://dx.doi.org/10.1016/j.jaip.2017.03.007	DOI Listing

June 2019

RASopathy in Patients With Isolated Sagittal Synostosis.

Authors:

Amani Ali Davis Giulio Zuccoli Mostafa M Haredy Joseph Losee Ian F Pollack Suneeta Madan-Khetarpal Jesse A Goldstein Ken K Nischal

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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http://dx.doi.org/10.1177/2333794X19846774	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540476	PMC

May 2019

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

Authors:

Mahmoud Aarabi Elena Kessler Suneeta Madan-Khetarpal Urvashi Surti Daniel Bellissimo Aleksandar Rajkovic Svetlana A Yatsenko

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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http://dx.doi.org/10.1016/j.ejmg.2018.07.021	DOI Listing

April 2019

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Genet Med 2019 03 30;21(3):663-675. Epub 2018 Aug 30.

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

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http://dx.doi.org/10.1038/s41436-018-0085-6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395558	PMC

March 2019

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Am J Hum Genet 2019 01 20;104(1):164-178. Epub 2018 Dec 20.

Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183041	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.11.007	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323608	PMC

January 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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http://dx.doi.org/10.1007/s00439-018-1877-0	DOI Listing

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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http://dx.doi.org/10.1002/ajmg.a.38538	DOI Listing

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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http://dx.doi.org/10.1186/s13073-017-0463-8	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557075	PMC

August 2017

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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http://dx.doi.org/10.1002/ajmg.a.38254	DOI Listing

July 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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http://dx.doi.org/10.1055/s-0037-1604407	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536996	PMC

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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http://dx.doi.org/10.1038/jhg.2017.19	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5637523	PMC

June 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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http://dx.doi.org/10.1186/s13039-017-0326-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477234	PMC

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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http://dx.doi.org/10.1002/ajmg.a.37981	DOI Listing

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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http://dx.doi.org/10.1007/s00439-016-1655-9	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754	PMC

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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http://dx.doi.org/10.1002/ajmg.a.37133	DOI Listing

September 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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http://doi.wiley.com/10.1002/ajmg.a.37110	Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37110	DOI Listing

August 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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http://dx.doi.org/10.1093/hmg/ddv139	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476448	PMC

July 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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http://dx.doi.org/10.1002/ajmg.a.36839	DOI Listing

May 2015

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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http://dx.doi.org/10.1017/S1047951113001868	DOI Listing

January 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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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153652	Publisher Site
http://dx.doi.org/10.1038/jid.2014.224	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199921	PMC

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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http://dx.doi.org/10.2350/14-03-1450-CR.1	DOI Listing

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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http://dx.doi.org/10.1002/ajmg.a.36238	DOI Listing

February 2014

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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http://dx.doi.org/10.1002/humu.22165	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105850	PMC

January 2013

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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http://dx.doi.org/10.1002/ajmg.a.35658	DOI Listing

January 2013

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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http://www.hindawi.com/journals/gri/2011/185271/	Publisher Site
http://dx.doi.org/10.4061/2011/185271	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335458	PMC