Pawel Stankiewicz

Pawel Stankiewicz

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Pawel Stankiewicz

Pawel Stankiewicz

Publications by authors named "Pawel Stankiewicz"

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100Publications

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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Mol Genet Genomic Med 2019 03 10;7(3):e549. Epub 2019 Jan 10.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418355PMC
March 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 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

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

J Hum Genet 2018 Jul 24;63(7):795-801. Epub 2018 Apr 24.

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

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http://dx.doi.org/10.1038/s10038-018-0451-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019170PMC
July 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

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.

Mamm Genome 2017 Aug 12;28(7-8):275-282. Epub 2017 Apr 12.

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

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http://dx.doi.org/10.1007/s00335-017-9686-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502246PMC
August 2017

Narrowing the distant enhancer region on 16q24.1 critical for ACDMPV.

Clin Epigenetics 2016 3;8:112. Epub 2016 Nov 3.

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

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http://dx.doi.org/10.1186/s13148-016-0278-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093964PMC
April 2017

SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.

Nucleus 2017 03 13;8(2):182-187. Epub 2017 Jan 13.

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

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http://dx.doi.org/10.1080/19491034.2017.1279776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403132PMC
March 2017

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

Neurol Neurochir Pol 2016 Nov - Dec;50(6):468-473. Epub 2016 Jul 9.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2016.06.008DOI Listing
February 2017

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, 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.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family.

Pediatr Pulmonol 2016 09 4;51(9):921-7. Epub 2016 May 4.

Pediatric Pulmonary Unit, Division of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ppul.23425DOI Listing
September 2016

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Am J Med Genet A 2016 09 4;170(9):2440-4. Epub 2016 Jul 4.

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

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http://dx.doi.org/10.1002/ajmg.a.37822DOI Listing
September 2016

One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?

Mol Cytogenet 2016 26;9:72. Epub 2016 Sep 26.

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

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http://dx.doi.org/10.1186/s13039-016-0283-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037601PMC
September 2016

Evidence against ZNF469 being causative for keratoconus in Polish patients.

Acta Ophthalmol 2016 May 25;94(3):289-94. Epub 2016 Jan 25.

Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1111/aos.12968DOI Listing
May 2016

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/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

J Pediatr 2016 Mar 17;170:317-8. Epub 2015 Dec 17.

Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.11.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5476418PMC
March 2016

Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics.

Trends Genet 2016 02 22;32(2):138. Epub 2015 Dec 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.tig.2015.07.004DOI Listing
February 2016

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.

Am J Med Genet A 2015 Aug 8;167A(8):1842-50. Epub 2015 Jun 8.

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

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http://dx.doi.org/10.1002/ajmg.a.37057DOI Listing
August 2015

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Somatic mosaicism: implications for disease and transmission genetics.

Trends Genet 2015 Jul 21;31(7):382-92. Epub 2015 Apr 21.

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

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http://dx.doi.org/10.1016/j.tig.2015.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490042PMC
July 2015

Absence of heterozygosity due to template switching during replicative rearrangements.

Am J Hum Genet 2015 Apr 19;96(4):555-64. Epub 2015 Mar 19.

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

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http://dx.doi.org/10.1016/j.ajhg.2015.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385179PMC
April 2015

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

Curr Genomics 2015 Apr;16(2):107-16

Department of Molecular and Human Genetics; ; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA;

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http://dx.doi.org/10.2174/1389202916666150122223252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467301PMC
April 2015

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.

Nucleic Acids Res 2015 Feb 22;43(4):2188-98. Epub 2015 Jan 22.

Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw, 2 Banacha street, 02-097 Warsaw, Poland Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawińskiego street, 02-106 Warsaw, Poland

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http://dx.doi.org/10.1093/nar/gku1394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344489PMC
February 2015

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Am J Hum Genet 2014 Oct 18;95(4):345-59. Epub 2014 Sep 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Statistics, Rice University, Houston, TX 77005, USA; Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185125PMC
October 2014

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135413PMC
September 2014

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.

BMC Biol 2014 Sep 23;12:74. Epub 2014 Sep 23.

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

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http://dx.doi.org/10.1186/s12915-014-0074-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195946PMC
September 2014

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Am J Hum Genet 2014 Aug 24;95(2):143-61. Epub 2014 Jul 24.

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

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http://dx.doi.org/10.1016/j.ajhg.2014.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129405PMC
August 2014

[Genetic bases of autism spectrum disorders].

Med Wieku Rozwoj 2013 Jul-Sep;17(3):207-23

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 Warszawa, 0048 22 32-77-145,

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January 2014

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.

Am J Med Genet B Neuropsychiatr Genet 2013 Dec 6;162B(8):832-40. Epub 2013 Sep 6.

Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.b.32187DOI Listing
December 2013

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Am J Med Genet A 2013 Dec 2;161A(12):2953-63. Epub 2013 Oct 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics-Hematology-Oncology, Baylor College of Medicine and Texas Children's Cancer Center, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.35886DOI Listing
December 2013

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Chromosome Res 2013 Dec 20;21(8):781-8. Epub 2013 Nov 20.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1007/s10577-013-9386-4DOI Listing
December 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

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

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Functional performance of aCGH design for clinical cytogenetics.

Comput Biol Med 2013 Jul 16;43(6):775-85. Epub 2013 Mar 16.

Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.compbiomed.2013.02.008DOI Listing
July 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
Publisher Site
http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Multiple samples aCGH analysis for rare CNVs detection.

J Clin Bioinforma 2013 Jun 11;3(1):12. Epub 2013 Jun 11.

Institute of Informatics, University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1186/2043-9113-3-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691624PMC
June 2013

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Hum Mutat 2013 Jan 11;34(1):210-20. Epub 2012 Oct 11.

Institute of Informatics, University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1002/humu.22217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738003PMC
January 2013