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Heather Mefford

Research Profile

Concepts & Ideas

Physiology

Anatomy

Procedures

Sequence Analysis, DNA

Genes & Molecular Sequences

Disorders

Chemicals & Drugs

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Publications

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Rikke Steensbjerre Møller; Hiltrud Muhle; Ina-Maria Rückert; Thomas Sander; Stefan Schreiber; Claudia Schurmann; Ulrich Stephani; Niels Tommerup; Holger Trucks; Yvonne G Weber; H-Erich Wichmann; Peter Wolf; Dieter Dennig; Jan P Ernst; Andre Franke; Hans J Grabe; Ingo Helbig; Helle Hjalgrim; Monika Kautza; Laura L Klitten; Wolfram S Kunz; Holger Lerche; Heather C Mefford
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Margaret J McMillin; Heather C Mefford; Sarju G Mehta; Deborah A Nickerson; Jason Pinner; Stephen P Robertson; Jay Shendure; Kathryn M Shively; James M Swanson; Michael Bamshad; Anita E Beck; Jennifer Below; Dawn L Earl; Elaine M Faustman; Heidi I Gildersleeve; Gloria R Gogola; Dorothy K Grange; David J Harris; Jacqueline T Hecht; Sujatha Jagadeesh
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Brian J O'Roak; Ian G Phelps; Ian B Stanaway; Emily H Turner; Laura Vives; Joshua M Akey; Katy Ankenman; Raphael Bernier; Elhanan Borenstein; Gemma Carvill; Bradley P Coe; Dan Doherty; Jarrett D Egertson; Evan E Eichler; Wenqing Fu; Joseph B Hiatt; Niklas Krumm; Akash Kumar; Choli Lee; Roie Levy; Beth K Martin; Heather C Mefford; Jeff Munson; Deborah A Nickerson; Diana R O'Day; Jay Shendure
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

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All Publications

2013: Rikke Steensbjerre Møller; Hiltrud Muhle; Ina-Maria Rückert; Thomas Sander; Stefan Schreiber; Claudia Schurmann; Ulrich Stephani; Niels Tommerup; Holger Trucks; Yvonne G Weber; H-Erich Wichmann; Peter Wolf; Dieter Dennig; Jan P Ernst; Andre Franke; Hans J Grabe; Ingo Helbig; Helle Hjalgrim; Monika Kautza; Laura L Klitten; Wolfram S Kunz; Holger Lerche; Heather C Mefford
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Epilepsia 2013;54(2):256-64.
2013: Margaret J McMillin; Heather C Mefford; Sarju G Mehta; Deborah A Nickerson; Jason Pinner; Stephen P Robertson; Jay Shendure; Kathryn M Shively; James M Swanson; Michael Bamshad; Anita E Beck; Jennifer Below; Dawn L Earl; Elaine M Faustman; Heidi I Gildersleeve; Gloria R Gogola; Dorothy K Grange; David J Harris; Jacqueline T Hecht; Sujatha Jagadeesh
Mutations in ECEL1 cause distal arthrogryposis type 5D.
American journal of human genetics 2013;92(1):150-6.
2012: Brian J O'Roak; Ian G Phelps; Ian B Stanaway; Emily H Turner; Laura Vives; Joshua M Akey; Katy Ankenman; Raphael Bernier; Elhanan Borenstein; Gemma Carvill; Bradley P Coe; Dan Doherty; Jarrett D Egertson; Evan E Eichler; Wenqing Fu; Joseph B Hiatt; Niklas Krumm; Akash Kumar; Choli Lee; Roie Levy; Beth K Martin; Heather C Mefford; Jeff Munson; Deborah A Nickerson; Diana R O'Day; Jay Shendure
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Science (New York, N.Y.) 2012;338(6114):1619-22.
2012: Heather C Mefford
Diagnostic exome sequencing--are we there yet?
The New England journal of medicine 2012;367(20):1951-3.
2012: Heather C Mefford; Mark L Batshaw; Eric Hoffman
Genomics, intellectual disability, and autism.
The New England journal of medicine 2012;366(8):733-43.
2011: Hiltrud Muhle; Tanja Obermeier; Thomas Sander; Ulrich Stephani; Sarah von Spiczak; Evan E Eichler; Heather C Mefford; Ingo Helbig
Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.
Epilepsia 2011;52(12):e194-8.
2010: A M B Collie; Megan L Landsverk; E Ruzzo; Heather C Mefford; K Buysse; J R Adkins; D M Knutzen; K Barnett; R H Brown; G J Parry; S W Yum; D A Simpson; R K Olney; P F Chinnery; Evan E Eichler; Phillip F Chance; Mark Hannibal
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.
Journal of medical genetics 2010;47(9):601-7.
2010: Heather C Mefford; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Karen Buysse; Carl Baker; Andre Franke; Alain Malafosse; Pierre Genton; Pierre Thomas; Christina A Gurnett; Stefan Schreiber; Alexander G Bassuk; Michel Guipponi; Ulrich Stephani; Ingo Helbig; Evan E Eichler
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
PLoS genetics 2010;6(5):e1000962.
2010: Heather C Mefford; John C Mulley
Genetically complex epilepsies, copy number variants and syndrome constellations.
Genome medicine 2010;2(10):71.
2009: Heather C Mefford; Gregory Cooper; Troy Zerr; Joshua D Smith; Carl Baker; Neil Shafer; Erik C Thorland; Cindy Skinner; Charles E Schwartz; Deborah A Nickerson; Evan E Eichler
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
Genome research 2009;19(9):1579-85.
2009: Heather C Mefford; Evan E Eichler
Duplication hotspots, rare genomic disorders, and common disease.
Current opinion in genetics & development 2009;19(3):196-204.
2009: Megan L Landsverk; Elizabeth K Ruzzo; Heather C Mefford; Karen Buysse; Jillian G Buchan; Evan E Eichler; Elizabeth M Petty; Esther A Peterson; Dana M Knutzen; Karen Barnett; Martin R Farlow; Judy Caress; Gareth J Parry; Dianna Quan; Kathy L Gardner; Ming Hong; Zachary Simmons; Thomas D Bird; Phillip F Chance; Mark C Hannibal
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Human molecular genetics 2009;18(7):1200-8.
2009: Andy Itsara; Gregory Cooper; Carl Baker; Santhosh Girirajan; Jun Li; Devin Absher; Ronald M Krauss; Richard Myers; Paul M Ridker; Daniel I Chasman; Heather C Mefford; Phyllis Ying; Deborah A Nickerson; Evan E Eichler
Population analysis of large copy number variants and hotspots of human genetic disease.
American journal of human genetics 2009;84(2):148-61.
2007: Heather C Mefford; Séverine Clauin; andrew sharp; Rikke Steensbjerre Møller; Reinhard Ullmann; Raj Kapur; Daniel Pinkel; Gregory Cooper; ventura Mario; Hans-Hilger Ropers; Niels Tommerup; Evan E Eichler; Christine Bellanne-Chantelot
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
American journal of human genetics 2007;81(5):1057-69.
2002: Melanie P Gygi; Mark D Ferguson; Heather C Mefford; Kevin P Lund; Christine O'Day; Peiwen Zhou; Cynthia Friedman; Ger van den Engh; Mark L Stolowitz; Barbara J Trask
Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry.
Nucleic acids research 2002;30(13):2790-9.
2002: Heather C Mefford; Barbara J Trask
The complex structure and dynamic evolution of human subtelomeres.
Nature reviews. Genetics 2002;3(2):91-102.
2001: Elena Linardopoulou; Heather C Mefford; OT Nguyen; Cynthia Friedman; Ger van den Engh; D Gregory Farwell; Marc D Coltrera; Barbara J Trask
Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location.
Human molecular genetics 2001;10(21):2373-83.
2001: Heather C Mefford; Elena Linardopoulou; David A Coil; Ger van den Engh; Barbara J Trask
Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes.
Human molecular genetics 2001;10(21):2363-72.
1999: Heather C Mefford; Lisa Baumbach; Ramesh C K Panguluri; Carolyn Whitfield-Broome; C Szabo; S Smith; Mary-Claire King; Georgia M Dunston; D Stoppa-Lyonnet; F Arena
Evidence for a BRCA1 founder mutation in families of West African ancestry.
American journal of human genetics 1999;65(2):575-8.
1997: Heather C Mefford; Ger van den Engh; Cynthia Friedman; Barbara J Trask
Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping.
Human genetics 1997;100(1):138-44.
1997: EL Schubert; Ming K Lee; Heather C Mefford; R H Argonza; JE Morrow; J Hull; JL Dann; Mary-Claire King
BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.
American journal of human genetics 1997;60(5):1031-40.
1997: EL Schubert; Heather C Mefford; JL Dann; R H Argonza; J Hull; Mary-Claire King
BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer.
Genetic testing 1997;1(1):41-6.
1996: Barbara J Trask; Heather C Mefford; Ger van den Engh; Hillary F Massa; R C Juyal; Lorraine Potocki; B Finucane; D N Abuelo; D R Witt; E Magenis; Antonio Baldini; F Greenberg; James R Lupski; Pragna I Patel
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
Human genetics 1996;98(6):710-8.