Peining Li

Peining Li

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1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.

Indian J Pediatr 2019 11 4;86(11):1068. Epub 2019 Jul 4.

Department of Clinical Genetics, Yale University, New Haven, CT, USA.

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http://dx.doi.org/10.1007/s12098-019-03014-2DOI Listing
November 2019

Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.

Mol Genet Genomic Med 2019 Oct 2;7(10):e00965. Epub 2019 Sep 2.

Clinical Cytogenetics Laboratory, Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1002/mgg3.965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785443PMC
October 2019

Efficient genome-wide first-generation phenotypic screening system in mice using the transposon.

Proc Natl Acad Sci U S A 2019 Sep 26;116(37):18507-18516. Epub 2019 Aug 26.

Department of Genetics, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, CT 06536;

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http://dx.doi.org/10.1073/pnas.1906354116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744845PMC
September 2019

Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities.

Med Sci (Basel) 2019 Jan 23;7(2). Epub 2019 Jan 23.

Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of Medicine, New Haven, CT 06520, USA.

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http://dx.doi.org/10.3390/medsci7020016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410168PMC
January 2019

[A practice-based competencies training, certifying and evaluating system for genetic counseling in the United States].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jan;36(1):37-43

Department of Genetics, Yale University, New Haven, CT 06510, USA. Email:

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.01.007DOI Listing
January 2019

In-plane anisotropic and ultra-low-loss polaritons in a natural van der Waals crystal.

Nature 2018 10 24;562(7728):557-562. Epub 2018 Oct 24.

Institute of Functional Nano and Soft Materials (FUNSOM), Jiangsu Key Laboratory for Carbon-based Functional Materials and Devices, and Collaborative Innovation Center of Suzhou Nano Science and Technology, Soochow University, Suzhou, China.

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http://www.nature.com/articles/s41586-018-0618-9
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http://dx.doi.org/10.1038/s41586-018-0618-9DOI Listing
October 2018

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.

Mol Cytogenet 2018 27;11:19. Epub 2018 Feb 27.

2Laboratory of Clinical Cytogenetics and Genomics, Department of Genetics, Yale School of Medicine, New Haven, CT 06520 USA.

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http://dx.doi.org/10.1186/s13039-018-0367-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828142PMC
February 2018

Vascular smooth muscle cells derived from inbred swine induced pluripotent stem cells for vascular tissue engineering.

Biomaterials 2017 Dec 19;147:116-132. Epub 2017 Sep 19.

Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine Yale School of Medicine, New Haven, CT 06511, USA; Yale Stem Cell Center, New Haven, CT 06520, USA; Vascular Biology and Therapeutics Program, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Pathology, Yale School of Medicine, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biomaterials.2017.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638652PMC
December 2017

Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome.

Fetal Pediatr Pathol 2017 Dec 5;36(6):432-436. Epub 2017 Dec 5.

a Shenzhen Maternity and Child Healthcare Hospital, Medical Genetics Center , Shenzhen , China.

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http://dx.doi.org/10.1080/15513815.2017.1332120DOI Listing
December 2017

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.

Mol Cytogenet 2017 19;10:46. Epub 2017 Dec 19.

Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, Guangdong 518028 China.

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http://dx.doi.org/10.1186/s13039-017-0347-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738159PMC
December 2017

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

Eur J Med Genet 2017 Jul 15;60(7):369-373. Epub 2017 Apr 15.

Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.008DOI Listing
July 2017

FISH Panel for Leukemic CTCL.

J Invest Dermatol 2017 03 8;137(3):751-753. Epub 2016 Nov 8.

Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.10.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5419071PMC
March 2017

Recurrent genetic defects in classical Hodgkin lymphoma cell lines.

Leuk Lymphoma 2016 12 27;57(12):2890-2900. Epub 2016 Apr 27.

a Department of Pathology, Yale School of Medicine , New Haven , CT , USA.

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http://dx.doi.org/10.1080/10428194.2016.1177179DOI Listing
December 2016

Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications.

Front Cell Dev Biol 2016 5;4:89. Epub 2016 Sep 5.

Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of Medicine New Haven, CT, USA.

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http://dx.doi.org/10.3389/fcell.2016.00089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011256PMC
September 2016

Reversible optical switching of highly confined phonon-polaritons with an ultrathin phase-change material.

Nat Mater 2016 08 23;15(8):870-5. Epub 2016 May 23.

Institute of Physics (IA), RWTH Aachen University, Aachen 52056, Germany.

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http://www.nature.com/articles/nmat4649
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http://dx.doi.org/10.1038/nmat4649DOI Listing
August 2016

Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples.

J Genet Genomics 2016 Mar 13;43(3):121-31. Epub 2016 Feb 13.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2016.02.002DOI Listing
March 2016

Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.

Mol Cytogenet 2015 21;8:97. Epub 2015 Dec 21.

Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, Guangdong China.

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http://dx.doi.org/10.1186/s13039-015-0198-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687147PMC
December 2015

Hyperbolic phonon-polaritons in boron nitride for near-field optical imaging and focusing.

Nat Commun 2015 Jun 26;6:7507. Epub 2015 Jun 26.

1] Institute of Physics (IA), RWTH Aachen University, Aachen 52056, Germany [2] Fraunhofer Institute for Laser Technology ILT, Aachen 52074, Germany.

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http://dx.doi.org/10.1038/ncomms8507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491815PMC
June 2015

Understanding the conductive channel evolution in Na:WO(3-x)-based planar devices.

Nanoscale 2015 Apr;7(14):6023-30

I. Physikalisches Institut (IA), RWTH Aachen University, 52074 Aachen, Germany.

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http://dx.doi.org/10.1039/c4nr07545eDOI Listing
April 2015

Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.

Haematologica 2014 Sep 3;99(9):e168-70. Epub 2014 Jun 3.

Department of Pediatrics, Yale University School of Medicine, New Haven, CT Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA Department of Pathology, Yale University School of Medicine, New Haven, CT, USA

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http://dx.doi.org/10.3324/haematol.2014.110312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562552PMC
September 2014

Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study.

Hum Pathol 2014 Sep 5;45(9):1885-92. Epub 2014 Jun 5.

Department of Pathology, Yale University, School of Medicine, New Haven, CT 06520-8023.

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http://dx.doi.org/10.1016/j.humpath.2014.05.010DOI Listing
September 2014

Graphene-enhanced infrared near-field microscopy.

Nano Lett 2014 Aug 17;14(8):4400-5. Epub 2014 Jul 17.

1st Institute of Physics (IA), RWTH Aachen University , 52056 Aachen, Germany.

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http://dx.doi.org/10.1021/nl501376aDOI Listing
August 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability.

Mol Cytogenet 2014 Jan 10;7(1). Epub 2014 Jan 10.

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1186/1755-8166-7-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905969PMC
January 2014

Optical properties of single infrared resonant circular microcavities for surface phonon polaritons.

Nano Lett 2013 Nov 16;13(11):5051-5. Epub 2013 Oct 16.

First Institute of Physics (IA), RWTH Aachen University , Aachen 52056, Germany.

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http://dx.doi.org/10.1021/nl4020342DOI Listing
November 2013

Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation.

J Genet Genomics 2013 Jan 27;40(1):1-14. Epub 2012 Dec 27.

Laboratory of Molecular Cytogenetics and Genomics, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S16738527120022
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http://dx.doi.org/10.1016/j.jgg.2012.12.004DOI Listing
January 2013

Broadband subwavelength imaging using a tunable graphene-lens.

ACS Nano 2012 Nov 19;6(11):10107-14. Epub 2012 Oct 19.

1st Institute of Physics (IA), RWTH Aachen University, 52056 Aachen, Germany.

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http://pubs.acs.org/doi/10.1021/nn303845a
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http://dx.doi.org/10.1021/nn303845aDOI Listing
November 2012

Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literature.

Case Rep Genet 2012 23;2012:821347. Epub 2012 Oct 23.

Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China ; Laboratory of Molecular Cytogenetics and Genomics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.

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http://downloads.hindawi.com/journals/crig/2012/821347.pdf
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http://www.hindawi.com/journals/crig/2012/821347/
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http://dx.doi.org/10.1155/2012/821347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485761PMC
November 2012

Integrated analysis of tumor samples sheds light on tumor heterogeneity.

Yale J Biol Med 2012 Sep 25;85(3):347-61. Epub 2012 Sep 25.

Department of Pathology and Yale Cancer Center, Yale School of Medicine, New Haven, CT 06520, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447199PMC
September 2012

Multi-wavelength superlensing with layered phonon-resonant dielectrics.

Opt Express 2012 May;20(11):11787-95

1st Institute of Physics, IA, RWTH Aachen University, 52056 Aachen, Germany.

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http://dx.doi.org/10.1364/OE.20.011787DOI Listing
May 2012

Reduced level of ribonucleotide reductase R2 subunits increases dependence on homologous recombination repair of cisplatin-induced DNA damage.

Mol Pharmacol 2011 Dec 29;80(6):1000-12. Epub 2011 Aug 29.

Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520-8066, USA.

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http://dx.doi.org/10.1124/mol.111.074708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228527PMC
December 2011

A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: a case report and review of literature.

Am J Med Genet A 2011 Dec 3;155A(12):3082-6. Epub 2011 Nov 3.

Department of Pediatrics, Section of Perinatal Medicine, Yale University School of Medicine, New Haven, Connecticut 06520-8064, USA.

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http://dx.doi.org/10.1002/ajmg.a.34307DOI Listing
December 2011

Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia.

Pediatr Blood Cancer 2011 Sep 29;57(3):516-9. Epub 2011 Apr 29.

Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1002/pbc.23156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517576PMC
September 2011

Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies.

BMC Genomics 2011 May 11;12:230. Epub 2011 May 11.

Department of Pathology and Yale Cancer Center, Yale University School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1186/1471-2164-12-230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114747PMC
May 2011

A highly sensitive, high-throughput assay for the detection of Turner syndrome.

J Clin Endocrinol Metab 2011 Mar 22;96(3):699-705. Epub 2010 Dec 22.

Yale Child Health Research Center, Yale University School of Medicine, 464 Congress Avenue, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1210/jc.2010-1554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047225PMC
March 2011

Electrically controlled multifrequency ferroelectric cloak.

Opt Express 2010 Jun;18(12):12646-52

College of Science, Nanjing University of Aeronautics and Astronautics, Nanjing 210016, China.

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http://dx.doi.org/10.1364/OE.18.012646DOI Listing
June 2010

Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features.

Hum Pathol 2008 Dec 25;39(12):1844-8. Epub 2008 Jul 25.

Departamento de Anatomía Patológica, Hospital Universitario La Paz, 28046 Madrid, Spain.

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http://dx.doi.org/10.1016/j.humpath.2008.04.013DOI Listing
December 2008

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

Am J Med Genet A 2008 Aug;146A(15):1942-54

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1002/ajmg.a.32411DOI Listing
August 2008

Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization.

Cancer Genet Cytogenet 2008 Jun;183(2):117-20

Molecular Cytogenetics Laboratory, Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.cancergencyto.2008.02.011DOI Listing
June 2008

A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.

Proc Natl Acad Sci U S A 2008 Mar 28;105(9):3455-60. Epub 2008 Feb 28.

Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510.

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http://dx.doi.org/10.1073/pnas.0712361105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265125PMC
March 2008

Pulmonary atresia with intact ventricular septum (PA-IVS) in monozygotic twins.

Am J Med Genet A 2008 Feb;146A(4):525-8

Department of Laboratory Medicine, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32160
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http://dx.doi.org/10.1002/ajmg.a.32160DOI Listing
February 2008

CytoAccess, a relational laboratory information management system for a clinical cytogenetics laboratory.

J Assoc Genet Technol 2006 ;32(4):168-70

Molecular Cytogenetics Laboratory, Department of Genetics, Yale School of Medicine, New Haven, CT 06520, USA.

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May 2007

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Am J Med Genet A 2004 Jan;124A(3):280-7

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1002/ajmg.a.20413DOI Listing
January 2004

Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.

Genet Med 2002 Nov-Dec;4(6):420-6

Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1097/00125817-200211000-00004DOI Listing
May 2003