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1

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

J McDonald, K Damjanovich, A Millson, W Wooderchak, JM Chibuk, DA Stevenson, F Gedge, P Bayrak-Toydemir

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 636 KB

english, 2011

2

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model

Pınar Bayrak-Toydemir, Jamie McDonald, Rong Mao, Amit Phansalkar, Friederike Gedge, Jorge Robles, David Goldgar, Elaine Lyon

Journal:

Experimental and Molecular Pathology

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

3

Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations

Gedge, Friederike, McDonald, Jamie, Phansalkar, Amit, Chou, Lan-Szu, Calderon, Fernanda, Mao, Rong, Lyon, Elaine, Bayrak-Toydemir, Pinar

Journal:

The Journal of Molecular Diagnostics

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

4

Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations

Pınar Bayrak-Toydemir, Jamie McDonald, Boaz Markewitz, Susan Lewin, Franklin Miller, Lan-Szu Chou, Friederike Gedge, Wei Tang, Hillary Coon, Rong Mao

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 337 KB

english, 2006

5

Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

Bayrak-Toydemir, Pinar, Mao, Rong, Lewin, Susan, McDonald, Jamie

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 1.12 MB

english, 2004

6

Pathobiology of Human Disease || Gene/Genome Mutation Detection and Testing

Bayrak-Toydemir, P.

Year:

2014

Language:

english

File:

PDF, 2.94 MB

english, 2014

7

5'UTR mutations ofENGcause hereditary hemorrhagic telangiectasia

Kristy Damjanovich, Carmen Langa, Francisco J Blanco, Jamie McDonald, Luisa M Botella, Carmelo Bernabeu, Whitney Wooderchak-Donahue, David A Stevenson, Pinar Bayrak-Toydemir

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 480 KB

english, 2011

8

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

Best, D. H., Vaughn, C., McDonald, J., Damjanovich, K., Runo, J. R., Chibuk, J. M., Bayrak-Toydemir, P.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 406 KB

english, 2011

9

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations

Lozano, Reymundo, Herman, Kristin, Rothfuss, Melanie, Rieger, Hillary, Bayrak-Toydemir, Pinar, Aprile, Davide, Fruscione, Floriana, Zara, Federico, Fassio, Anna

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 3.48 MB

english, 2016

10

Pathobiology of Human Disease || Gene/Genome Mutation Detection and Testing

Bayrak-Toydemir, P.

Year:

2014

File:

PDF, 2.94 MB

2014

11

Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome

Carlston, Colleen M., Bleyl, Steven B., Andrews, Ashley, Meyers, Lindsay, Brown, Sara, Bayrak-Toydemir, Pinar, Bale, James F., Botto, Lorenzo D.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.72 MB

english, 2019

12

Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype

David A. Stevenson, Arthur R. Brothman, Zhong Chen, Pinar Bayrak-Toydemir, Nicola Longo

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 145 KB

english, 2004

13

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

Pinar Bayrak-Toydemir, Jamie McDonald, Nurten Akarsu, Reha M. Toydemir, Fernanda Calderon, Timur Tuncali, Wei Tang, Franklin Miller, Rong Mao

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 212 KB

english, 2006

14

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation

Larissa V. Furtado, Pinar Bayrak-Toydemir, Becki Hulinsky, Kristy Damjanovich, John C. Carey, Alan F. Rope

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

15

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes

Cecily P. Vaughn, Jorge Robles, Jeffrey J. Swensen, Christine E. Miller, Elaine Lyon, Rong Mao, Pinar Bayrak-Toydemir, Wade S. Samowitz

Journal:

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

16

Characterization of large genomic deletions in theFBN1gene using multiplex ligation-dependent probe amplification

Larissa V Furtado, Whitney Wooderchak-Donahue, Alan F Rope, Angela T Yetman, Tracey Lewis, Parker Plant, Pinar Bayrak-Toydemir

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 452 KB

english, 2011

17

Applying a test system for discriminating fetal from maternal cells

Pınar Bayrak-Toydemir, Eugene Pergament, Morris Fiddler

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

18

Are fetal cells in maternal plasma really there? We think they are

Pınar Bayrak-Toydemir, Eugene Pergament, Morris Fiddler

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 165 KB

english, 2003

19

p.R672C Mutation ofMYH3Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome

Mohammad Al-Haggar, Soheir Yahia, Kristy Damjanovich, Nermin Ahmad, Iman Hamada, Pinar Bayrak-Toydemir

Journal:

Indian Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 264 KB

english, 2011

20

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family

W Wooderchak, F Gedge, M McDonald, P Krautscheid, X Wang, J Malkiewicz, CJ Bukjiok, T Lewis, P Bayrak-Toydemir

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 687 KB

english, 2010

21

To clone or not to clone: Who will answer the question?

Morris B. Fiddler, Pinar Bayrak-Toydemir, E. Pergament

Journal:

Differentiation

Year:

2002

Language:

english

File:

PDF, 36 KB

english, 2002

22

RASA1 analysis: Clinical and molecular findings in a series of consecutive cases

Whitney Wooderchak-Donahue, David A. Stevenson, Jamie McDonald, J. Fredrik Grimmer, Friederike Gedge, Pinar Bayrak-Toydemir

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 121 KB

english, 2012

23

Mosaicism in Stickler syndrome

David A. Stevenson, Rena Vanzo, Kristy Damjanovich, Heather Hanson, Harlan Muntz, Robert O. Hoffman, Pinar Bayrak-Toydemir

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 848 KB

english, 2012

24

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype

David A. Stevenson, John C. Carey, Brett C. Cowley, Pinar Bayrak-Toydemir, Rong Mao, Arthur R. Brothman

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 285 KB

english, 2004

25

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak-Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David H. Viskochil, John C. Carey, Michael J. Bamshad

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.00 MB

english, 2006

26

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Whitney L Wooderchak-Donahue, Brendan O’Fallon, Larissa V Furtado, Jacob D Durtschi, Parker Plant, Perry G Ridge, Alan F Rope, Angela T Yetman, Pinar Bayrak-Toydemir

Journal:

BMC Medical Genomics

Year:

2012

Language:

english

File:

PDF, 370 KB

english, 2012

27

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period

Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V

Journal:

Journal of Clinical Bioinformatics

Year:

2013

Language:

english

File:

PDF, 157 KB

english, 2013

28

ACMG clinical laboratory standards for next-generation sequencing

Rehm, Heidi L., Bale, Sherri J., Bayrak-Toydemir, Pinar, Berg, Jonathan S., Brown, Kerry K., Deignan, Joshua L., Friez, Michael J., Funke, Birgit H., Hegde, Madhuri R., Lyon, Elaine

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 476 KB

english, 2013

29

Novel Homozygous CYP1B1 Deletion in Siblings with Primary Congenital Glaucoma

Damjanovich, Kristy, Baldwin, Erin E., Lewis, Tracey, Bayrak-Toydemir, Pinar

Journal:

Ophthalmic Genetics

Year:

2013

Language:

english

File:

PDF, 211 KB

english, 2013

30

Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis

McDonald, Jamie, Bayrak-Toydemir, Pinar, Pyeritz, Reed E.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 843 KB

english, 2011

31

VarRanker: rapid prioritization of sequence variations associated with human disease

Brendan D O’Fallon,Whitney Wooderchak-Donahue,Pinar Bayrak-Toydemir…

Journal:

BMC Bioinformatics

Year:

2013

Language:

english

File:

PDF, 375 KB

english, 2013

32

Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases

McDonald, Jamie, Gedge, Friederike, Burdette, Allene, Carlisle, James, Bukjiok, Changkuoth Jock, Fox, Michelle, Bayrak-Toydemir, Pınar

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 360 KB

english, 2009

33

Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing

Kalman, Lisa V., Tarleton, Jack C., Percy, Alan K., Aradhya, Swaroop, Bale, Sherri, Barker, Shannon D., Bayrak-Toydemir, Pinar, Bridges, Christina, Buller-Burckle, Arlene M., Das, Soma, Iyer, Ramaswam

Journal:

The Journal of Molecular Diagnostics

Year:

2014

Language:

english

File:

PDF, 316 KB

english, 2014

34

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Bean, Lora, Bayrak-Toydemir, Pinar

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1.49 MB

english, 2014

35

X chromosome exome sequencing reveals a novel ALG 13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings

Bissar-Tadmouri, Nesrine, Donahue, Whithey L., Al-Gazali, Lihadh, Nelson, Stanley F., Bayrak-Toydemir, Pinar, Kantarci, Sibel

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 480 KB

english, 2014

36

Verification of Multiplex Ligation-Dependent Probe Amplification Probes in the Absence of Positive Samples

Wooderchak-Donahue, Whitney, Vaughn, Cecily, Chou, Lan-Szu, Lewis, Tracey, Sumner, Kelli, Procter, Melinda, Gedge, Friederike, Bayrak-Toydemir, Pinar, Lyon, Elaine, Pont-Kingdon, Genevieve

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2011

Language:

english

File:

PDF, 514 KB

english, 2011

37

Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective

Hegde, Madhuri, Bale, Sherri, Bayrak-Toydemir, Pinar, Gibson, Jane, Bone Jeng, Linda Jo, Joseph, Loren, Laser, Jordan, Lubin, Ira M., Miller, Christine E., Ross, Lainie F., Rothberg, Paul G., Tanner,

Journal:

The Journal of Molecular Diagnostics

Year:

2015

Language:

english

File:

PDF, 406 KB

english, 2015

38

Identifying Common Genetic Variants by High-Resolution Melting

Vandersteen, J. G., Bayrak-Toydemir, P., Palais, R. A., Wittwer, C. T.

Journal:

Clinical Chemistry

Year:

2007

Language:

english

File:

PDF, 256 KB

english, 2007

39

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

Whitby, H., Tsalenko, A., Aston, E., Tsang, P., Mitchell, S., Bayrak-Toydemir, P., Hopkins, C., Peters, G., Bailey, D.K., Bruhn, L., Brothman, A.R.

Journal:

Cytogenetic and Genome Research

Year:

2008

Language:

english

File:

PDF, 668 KB

english, 2008

40

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

McDonald, Jamie, Wooderchak-Donahue, Whitney, VanSant Webb, Chad, Whitehead, Kevin, Stevenson, David A., Bayrak-Toydemir, Pinar

Journal:

Frontiers in Genetics

Year:

2015

Language:

english

File:

PDF, 838 KB

english, 2015

41

Hemangioma Is Associated with Atopic Disease

Grimmer, J. F., Williams, M. S., Pimentel, R., Mineau, G., Wood, G. M., Bayrak-Toydemir, P., Stevenson, D. A.

Journal:

Otolaryngology - Head and Neck Surgery

Year:

2012

Language:

english

File:

PDF, 134 KB

english, 2012

42

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4

Millson, Alison, Lewis, Tracey, Pesaran, Tina, Salvador, David, Gillespie, Katrina, Gau, Chia-Ling, Pont-Kingdon, Genevieve, Lyon, Elaine, Bayrak-Toydemir, Pinar

Journal:

The Journal of Molecular Diagnostics

Year:

2015

Language:

english

File:

PDF, 1.53 MB

english, 2015

43

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Lukacs, Viktor, Mathur, Jayanti, Mao, Rong, Bayrak-Toydemir, Pinar, Procter, Melinda, Cahalan, Stuart M., Kim, Helen J., Bandell, Michael, Longo, Nicola, Day, Ronald W., Stevenson, David A., Patapouti

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

44

Design and Analytical Validation of Clinical DNA Sequencing Assays

Pont-Kingdon, Genevieve, Gedge, Friederike, Wooderchak-Donahue, Whitney, Schrijver, Iris, Weck, Karen E, Kant, Jeffrey A, Oglesbee, Devin, Bayrak-Toydemir, Pinar, Lyon, Elaine

Journal:

Archives of Pathology & Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 237 KB

english, 2012

45

Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia: Quantitative Assessment

Bharatha, A., Faughnan, M. E., Kim, H., Pourmohamad, T., Krings, T., Bayrak-Toydemir, P., Pawlikowska, L., McCulloch, C. E., Lawton, M. T., Dowd, C. F., Young, W. L., Terbrugge, K. G.

Journal:

Year:

2012

Language:

english

File:

PDF, 337 KB

english, 2012

46

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

Best, D. Hunter, Sumner, Kelli L., Austin, Eric D., Chung, Wendy K., Brown, Lynette M., Borczuk, Alain C., Rosenzweig, Erika B., Bayrak-Toydemir, Pinar, Mao, Rong, Cahill, Barbara C., Tazelaar, Henry

Journal:

Year:

2014

Language:

english

File:

PDF, 519 KB

english, 2014

47

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Stevenson, David A., Schill, Lisa, Schoyer, Lisa, Andresen, Brage S., Bakker, Annette, Bayrak-Toydemir, Pinar, Burkitt-Wright, Emma, Chatfield, Kathryn, Elefteriou, Florent, Elgersma, Ype, Fisher, Mic

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 107 KB

english, 2016

48

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

Macmurdo, Colleen F., Wooderchak-Donahue, Whitney, Bayrak-Toydemir, Pinar, Le, Jenny, Wallenstein, Matthew B., Milla, Carlos, Teng, Joyce M. C., Bernstein, Jonathan A., Stevenson, David A.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 3.29 MB

english, 2016

49

NALCN channelopathies

Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.

Journal:

Year:

2016

Language:

english

File:

PDF, 3.34 MB

english, 2016

50

Pathogenic variants that alter protein code often disrupt splicing

Soemedi, Rachel, Cygan, Kamil J, Rhine, Christy L, Wang, Jing, Bulacan, Charlston, Yang, John, Bayrak-Toydemir, Pinar, McDonald, Jamie, Fairbrother, William G

Journal:

Nature Genetics

Year:

2017

Language:

english

File:

PDF, 5.68 MB

english, 2017

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