Mefford, Heather: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Cowley, Mark J, Liu, Yu-Chi, Oliver, Karen L., Carvill, Gemma, Myers, Candace T., Gayevskiy, Velimir, Delatycki, Martin, Vlaskamp, Danique R.M., Zhu, Ying, Mefford, Heather, Buckley, Michael F., Bahlo

Journal:

Year:

2018

Language:

english

File:

PDF, 887 KB

english, 2018

2

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

Kumar, Raman, Gardner, Alison, Homan, Claire C., Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann-Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessic

Journal:

Year:

2018

Language:

english

File:

PDF, 2.36 MB

english, 2018

3

2020 Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

Traynelis, Stephen F., Dlugos, Dennis, Henshall, David, Mefford, Heather C., Rogawski, Michael A., Staley, Kevin J., Dacks, Penny A., Whittemore, Vicky, Poduri, Annapurna

Journal:

Epilepsy Currents

Year:

2020

Language:

english

File:

PDF, 611 KB

english, 2020

4

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene

Desprairies, Camille, Valence, Stéphanie, Maurey, Hélène, Helal, Suzette Ibrahim, Weckhuysen, Sarah, Soliman, Hala, Mefford, Heather C., Spentchian, Myrtille, Héron, Delphine, Leguern, Eric, Nava, Car

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 2.11 MB

2019

5

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Earl, Rachel K., Turner, Tychele N., Mefford, Heather C., Hudac, Caitlin M., Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A.

Journal:

Molecular Autism

Year:

2017

Language:

english

File:

PDF, 2.29 MB

english, 2017

6

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

Abrahams, Brett S, Arking, Dan E, Campbell, Daniel B, Mefford, Heather C, Morrow, Eric M, Weiss, Lauren A, Menashe, Idan, Wadkins, Tim, Banerjee-Basu, Sharmila, Packer, Alan

Journal:

Molecular Autism

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

7

Thinking about cognition and epilepsy

Mefford, Heather C.

Journal:

Epilepsy & Behavior

Year:

2014

Language:

english

File:

PDF, 130 KB

english, 2014

8

Advancing epilepsy genetics in the genomic era

Myers, Candace T., Mefford, Heather C.

Journal:

Genome Medicine

Year:

2015

Language:

english

File:

PDF, 514 KB

english, 2015

9

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

Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina,

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 3.52 MB

english, 2019

10

Somatic Mutation: The Hidden Genetics of Brain Malformations and Focal Epilepsies

Ye, Zimeng, McQuillan, Lara, Poduri, Annapurna, Green, Timothy Edward, Matsumoto, Naomichi, Mefford, Heather C., Scheffer, Ingrid E., Berkovic, Samuel F., Hildebrand, Michael S.

Journal:

Epilepsy Research

Year:

2019

File:

PDF, 1.01 MB

2019

11

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy

Bassuk, Alexander G., Geraghty, Eileen, Wu, Shu, Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 125 KB

english, 2013

12

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

B. J. Trask, Heather Mefford, Ger van den Engh, Hillary F. Massa, Ramesh C. Juyal, Lorraine Potocki, Brenda Finucane, Dianne N. Abuelo, David R. Witt, Ellen Magenis, Antonio Baldini, Frank Greenberg,

Journal:

Year:

1996

Language:

english

File:

PDF, 111 KB

english, 1996

13

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

Hiltrud Muhle, Heather C. Mefford, Tanja Obermeier, Sarah von Spiczak, Evan E. Eichler, Ulrich Stephani, Thomas Sander, Ingo Helbig

Journal:

Year:

2011

Language:

english

File:

PDF, 358 KB

english, 2011

14

Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry

Heather C. Mefford, Lisa Baumbach, Ramesh C.K. Panguluri, Carolyn Whitfield-Broome, Csilla Szabo, Selena Smith, Mary-Claire King, Georgia Dunston, Dominique Stoppa-Lyonnet, Fernando Arena

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 593 KB

english, 1999

15

Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy

Helbig, Ingo, Hartmann, Corinna, Mefford, Heather C.

Journal:

Epilepsy & Behavior

Year:

2013

Language:

english

File:

PDF, 120 KB

english, 2013

16

Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics

Helbig, Ingo, Heinzen, Erin L., Mefford, Heather C.

Journal:

Year:

2018

Language:

english

File:

PDF, 900 KB

english, 2018

17

Genetic contribution to common epilepsies

Sisodiya, Sanjay M, Mefford, Heather C

Journal:

Current Opinion in Neurology

Year:

2011

Language:

english

File:

PDF, 194 KB

english, 2011

18

Primer Part 1-The building blocks of epilepsy genetics

Helbig, Ingo, Heinzen, Erin L., Mefford, Heather C.

Journal:

Year:

2016

Language:

english

File:

PDF, 874 KB

english, 2016

19

Dravet syndrome in South African infants: Tools for an early diagnosis

Esterhuizen, Alina I., Mefford, Heather C., Ramesar, Rajkumar S., Wang, Shuyu, Carvill, Gemma L., Wilmshurst, Jo M.

Journal:

Year:

2018

Language:

english

File:

PDF, 429 KB

english, 2018

20

Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery

Mefford, Heather C.

Journal:

Epilepsy Currents

Year:

2020

File:

PDF, 530 KB

2020

21

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling

Rebecca L. Sparkes, Shashirekha Shetty, Judy E. Chernos, Heather C. Mefford, A. Micheil Innes

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 228 KB

english, 2009

22

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Ng, Sarah B, Bigham, Abigail W, Buckingham, Kati J, Hannibal, Mark C, McMillin, Margaret J, Gildersleeve, Heidi I, Beck, Anita E, Tabor, Holly K, Cooper, Gregory M, Mefford, Heather C

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 520 KB

english, 2010

23

New Developments in Genetic Diagnosis

Hing, Anne V., Mefford, Heather C., Cunningham, Michael L.

Journal:

Journal of Craniofacial Surgery

Year:

2012

Language:

english

File:

PDF, 484 KB

english, 2012

24

Rare copy number variants are an important cause of epileptic encephalopathies

Heather C. Mefford, Simone C. Yendle, Cynthia Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg-Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben-Zeev, Tally Lerman-Sagie, Mark Mack

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 879 KB

english, 2011

25

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Mefford, Heather C., Sharp, Andrew J., Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K., Crolla, John A., Baralle, Diana, Collins, Amanda, Mercer, Catherine, No

Journal:

Boston Medical and Surgical Journal

Year:

2008

Language:

english

File:

PDF, 885 KB

english, 2008

26

Diagnostic Exome Sequencing — Are We There Yet?

Mefford, Heather C.

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 373 KB

english, 2012

27

Clinical Genetic Testing in Epilepsy

Mefford, Heather C.

Journal:

Epilepsy Currents

Year:

2015

File:

PDF, 81 KB

2015

28

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 693 KB

english, 2008

29

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

Freed, Amanda S., Clowes Candadai, Sarah V., Sikes, Megan C., Thies, Jenny, Byers, Heather M., Dines, Jennifer N., Ndugga-Kabuye, Mesaki Kenneth, Smith, Mallory B., Fogus, Katie, Mefford, Heather C.,

Journal:

The Journal of Pediatrics

Year:

2020

File:

PDF, 766 KB

2020

30

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

Møller, Rikke S., Weber, Yvonne G., Klitten, Laura L., Trucks, Holger, Muhle, Hiltrud, Kunz, Wolfram S., Mefford, Heather C., Franke, Andre, Kautza, Monika, Wolf, Peter, Dennig, Dieter, Schreiber, Ste

Journal:

Year:

2013

Language:

english

File:

PDF, 450 KB

english, 2013

31

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Mefford, Heather C., Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A., Schreibe

Journal:

Year:

2010

Language:

english

File:

PDF, 709 KB

english, 2010

32

Duplication hotspots, rare genomic disorders, and common disease

Heather C Mefford, Evan E Eichler

Journal:

Current Opinion in Genetics & Development

Year:

2009

Language:

english

File:

PDF, 470 KB

english, 2009

33

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria

Kirov, Andrey, Dimova, Petia, Todorova, Albena, Mefford, Heather, Todorov, Tihomir, Saraylieva, Gergana, Bojinova, Veneta, Mitev, Vanyo, Helbig, Ingo

Journal:

Epilepsy Research

Year:

2013

Language:

english

File:

PDF, 990 KB

english, 2013

34

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Cand

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 698 KB

english, 2016

35

Copy number variants in the population: Unselected does not mean unaffected

Mefford, Heather C.

Journal:

Epilepsy Currents

Year:

2016

Language:

english

File:

PDF, 60 KB

english, 2016

36

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather C. Mefford, Phyllis Ying, Deborah A

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

37

Genomics, Intellectual Disability, and Autism

Feero, W. Gregory, Guttmacher, Alan E., Mefford, Heather C., Batshaw, Mark L., Hoffman, Eric P.

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 620 KB

english, 2012

38

Clinical phenotype of the recurrent 1q21.1 copy-number variant

Bernier, Raphael, Steinman, Kyle J., Reilly, Beau, Wallace, Arianne Stevens, Sherr, Elliott H., Pojman, Nicholas, Mefford, Heather C., Gerdts, Jennifer, Earl, Rachel, Hanson, Ellen, Goin-Kochel, Robin

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 772 KB

english, 2015

39

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

Jones, Kelly L., Schwarze, Ulrike, Adam, Margaret P., Byers, Peter H., Mefford, Heather C.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 703 KB

english, 2015

40

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22

Byers, Heather M., Adam, Margaret P., LaCroix, Amy, Leary, Sarah E. S., Cole, Bonnie, Dobyns, William B., Mefford, Heather C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 566 KB

english, 2016

41

The SIGLEC14 null allele is associated with Mycobacterium tuberculosis- and BCG-induced clinical and immunologic outcomes

Graustein, Andrew D., Horne, David J., Fong, Jerry J., Schwarz, Flavio, Mefford, Heather C., Peterson, Glenna J., Wells, Richard D., Musvosvi, Munyaradzi, Shey, Muki, Hanekom, Willem A., Hatherill, Ma

Journal:

Year:

2017

Language:

english

File:

PDF, 908 KB

english, 2017

42

Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes

Beighley, Jennifer S., Hudac, Caitlin M., Arnett, Anne B., Peterson, Jessica L., Gerdts, Jennifer, Wallace, Arianne S., Mefford, Heather C., Hoekzema, Kendra, Turner, Tychele N., O’Roak, Brian J., Eic

Journal:

Biological Psychiatry

Year:

2019

Language:

english

File:

PDF, 2.37 MB

english, 2019

43

Phenotype to Genotype and Back Again

Mefford, Heather C.

Journal:

Epilepsy Currents

Year:

2020

Language:

english

File:

PDF, 531 KB

english, 2020

44

Epilepsy and the new cytogenetics

John C. Mulley, Heather C. Mefford

Journal:

Year:

2011

Language:

english

File:

PDF, 484 KB

english, 2011

45

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather Mefford, Phyllis Ying, Deborah A. N

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 993 KB

english, 2009

46

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Bachmann-Gagescu, Ruxandra, Mefford, Heather C, Cowan, Charles, Glew, Gwen M, Hing, Anne V, Wallace, Stephanie, Bader, Patricia I, Hamati, Aline, Reitnauer, Pamela J, Smith, Rosemarie, Stockton, David

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 639 KB

english, 2010

47

Genetically complex epilepsies, copy number variants and syndrome constellations

Heather C Mefford,John C Mulley

Journal:

Genome Medicine

Year:

2010

Language:

english

File:

PDF, 426 KB

english, 2010

48

Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping

Heather Mefford, G. van den Engh, Cynthia Friedman, B. J. Trask

Journal:

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

49

Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy

Mefford, Heather C., Cook, Joseph, Gospe, Sidney M.

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.20 MB

english, 2012

50

Epilepsy: Beyond the single nucleotide variant in epilepsy genetics

Scheffer, Ingrid E., Mefford, Heather C.

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2014

Language:

english

File:

PDF, 561 KB

english, 2014

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски