Publications by authors named "Amy M Breman"

35Publications

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Kidney Int 2020 10 22;98(4):1020-1030. Epub 2020 May 22.

Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2020.04.045DOI Listing
October 2020

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.

Am J Hum Genet 2019 12 27;105(6):1262-1273. Epub 2019 Nov 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904821PMC
December 2019

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.

Eur J Med Genet 2020 Apr 22;63(4):103797. Epub 2019 Oct 22.

Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Epidemiology, Indiana University Fairbanks School of Public Health, Indianapolis, IN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103797DOI Listing
April 2020

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Am J Med Genet A 2019 12 12;179(12):2357-2364. Epub 2019 Sep 12.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.61353DOI Listing
December 2019

Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia.

Hum Immunol 2019 Apr 19;80(4):257-262. Epub 2019 Feb 19.

Indiana University School of Medicine, Department of Medicine, Division of Hematology and Oncology, Bone Marrow and Stem Cell Transplantation Program, Indiana University, Indianapolis, IN, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S01988859183120
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http://dx.doi.org/10.1016/j.humimm.2019.02.009DOI Listing
April 2019

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Eur J Med Genet 2019 Jun 22;62(6):103531. Epub 2018 Aug 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.08.012DOI Listing
June 2019

Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements.

Genome Res 2018 08 15;28(8):1228-1242. Epub 2018 Jun 15.

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

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http://dx.doi.org/10.1101/gr.229401.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071635PMC
August 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Am J Obstet Gynecol 2017 12 13;217(6):691.e1-691.e6. Epub 2017 Oct 13.

Baylor Genetics, Baylor College of Medicine, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2017.10.005DOI Listing
December 2017

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.

Am J Med Genet A 2016 10 10;170(10):2540-50. Epub 2016 Jun 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37796DOI Listing
October 2016

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

Am J Med Genet A 2016 Mar 14;170(3):694-8. Epub 2015 Nov 14.

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

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http://dx.doi.org/10.1002/ajmg.a.37469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760878PMC
March 2016

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.

Nature 2013 Nov 23;503(7474):72-7. Epub 2013 Oct 23.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA [2] Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA [3] Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nature12630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923348PMC
November 2013

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

J Hum Genet 2011 Jul 19;56(7):516-23. Epub 2011 May 19.

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

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http://dx.doi.org/10.1038/jhg.2011.51DOI Listing
July 2011

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Am J Med Genet A 2011 Jun 12;155A(6):1465-8. Epub 2011 May 12.

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

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http://dx.doi.org/10.1002/ajmg.a.33935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651890PMC
June 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements.

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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http://dx.doi.org/10.1038/ejhg.2010.195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060318PMC
April 2011

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

Am J Med Genet A 2010 Feb;152A(2):504-11

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

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http://doi.wiley.com/10.1002/ajmg.a.33226
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http://dx.doi.org/10.1002/ajmg.a.33226DOI Listing
February 2010

Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting.

Beijing Da Xue Xue Bao Yi Xue Ban 2009 Aug;41(4):500-4

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

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August 2009

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Hum Genet 2009 Sep 16;126(3):411-23. Epub 2009 May 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-009-0679-9DOI Listing
September 2009

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.

Prenat Diagn 2008 Oct;28(10):943-9

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

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http://doi.wiley.com/10.1002/pd.2087
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http://dx.doi.org/10.1002/pd.2087DOI Listing
October 2008

Input DNA ratio determines copy number of the 33 kb Factor IX gene on de novo human artificial chromosomes.

Mol Ther 2008 Feb 4;16(2):315-23. Epub 2007 Dec 4.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, IB130, Indianapolis, Indiana, USA.

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http://dx.doi.org/10.1038/sj.mt.6300361DOI Listing
February 2008