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Eric Haan
Researcher at University of Adelaide
Publications - 258
Citations - 16228
Eric Haan is an academic researcher from University of Adelaide. The author has contributed to research in topics: Population & Pregnancy. The author has an hindex of 66, co-authored 252 publications receiving 14773 citations. Previous affiliations of Eric Haan include South Australia Pathology & Boston Children's Hospital.
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Journal ArticleDOI
Reproductive Technologies and the Risk of Birth Defects
Michael J. Davies,Vivienne M. Moore,Kristyn Willson,Phillipa Van Essen,Kevin Priest,Heather Scott,Eric Haan,Annabelle Chan +7 more
TL;DR: The increased risk of birth defects associated with IVF was no longer significant after adjustment for parental factors, and the risk of ICSI remained increased after multivariate adjustment, although the possibility of residual confounding cannot be excluded.
Journal ArticleDOI
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S. Tarpey,Raffaella Smith,Erin Pleasance,Annabel Whibley,Sarah Edkins,Claire Hardy,Sarah O’Meara,Calli Latimer,Ed Dicks,Andrew Menzies,Phil Stephens,Matt Blow,Christopher Greenman,Yali Xue,Chris Tyler-Smith,Deborah J. Thompson,Kristian Gray,Jenny Andrews,Syd Barthorpe,Gemma Buck,Jennifer Cole,Rebecca Dunmore,David T. Jones,Mark Maddison,Tatiana Mironenko,Rachel Turner,Kelly Turrell,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,Jon W. Teague,Adam Butler,Andrew M. Jenkinson,Mingming Jia,David S. Richardson,Rebecca Shepherd,Richard Wooster,M Isabel Tejada,Francisco Martínez,Gemma L. Carvill,Rene Goliath,Arjan P.M. de Brouwer,Hans van Bokhoven,Hilde Van Esch,Jamel Chelly,Martine Raynaud,Hans-Hilger Ropers,Fatima Abidi,Anand Srivastava,James J. Cox,Ying Luo,Uma Mallya,Jenny Moon,Josef Parnau,Shehla Mohammed,John Tolmie,Cheryl Shoubridge,Mark A. Corbett,Alison Gardner,Eric Haan,Sinitdhorn Rujirabanjerd,Marie Shaw,Lucianne Vandeleur,Tod Fullston,Douglas F. Easton,Jackie Boyle,Michael Partington,Anna Hackett,Michael Field,Cindy Skinner,Roger E. Stevenson,Martin Bobrow,Gillian Turner,Charles E. Schwartz,Jozef Gecz,Jozef Gecz,F. Lucy Raymond,P. Andrew Futreal,Michael R. Stratton +79 more
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Journal ArticleDOI
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane McCarthy,Carl Baker,Heather C Mefford,Jeffrey M. Kidd,Sharon R. Browning,Brian L. Browning,Diane E. Dickel,Deborah L. Levy,Blake C. Ballif,Kathryn Platky,Darren Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara Ellingwood,Rosemarie Smith,Valerie Banks,Wendy E. Smith,Marie T. McDonald,Joe J. Hoo,Beatrice N. French,Cindy Hudson,John P. Johnson,Jillian R Ozmore,John B. Moeschler,Urvashi Surti,Luis F. Escobar,Dima El-Khechen,Jerome L. Gorski,Jennifer Kussmann,Bonnie A. Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Eric Haan,Kathryn Friend,Marco Fichera,Corrado Romano,Jozef Gecz,Jozef Gecz,Lynn E. DeLisi,Lynn E. DeLisi,Jonathan Sebat,Mary Claire King,Lisa G. Shaffer,Evan E. Eichler +61 more
TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.
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Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe,Kali Witherspoon,Jill A. Rosenfeld,Bregje W.M. van Bon,Bregje W.M. van Bon,Anneke T. Vulto-van Silfhout,Paolo Bosco,Kathryn Friend,Carl Baker,Serafino Buono,Lisenka E.L.M. Vissers,Janneke H M Schuurs-Hoeijmakers,Alexander Hoischen,Rolph Pfundt,Nik Krumm,Gemma L. Carvill,Deana Li,David G. Amaral,Natasha Brown,Paul J. Lockhart,Ingrid E. Scheffer,Antonino Alberti,Marie Shaw,Rosa Pettinato,Raymond C. Tervo,Nicole de Leeuw,Margot R.F. Reijnders,Beth S. Torchia,Hilde Peeters,Elizabeth A. Thompson,Elizabeth A. Thompson,Brian J. O'Roak,Marco Fichera,Marco Fichera,Jayne Y. Hehir-Kwa,Jay Shendure,Heather C Mefford,Heather C Mefford,Eric Haan,Eric Haan,Jozef Gecz,Bert B.A. de Vries,Corrado Romano,Evan E. Eichler +43 more
TL;DR: An expanded CNV morbidity map was created from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs and an integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function.
Journal ArticleDOI
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A.F. Stessman,Bo Xiong,Bo Xiong,Bradley P. Coe,Tianyun Wang,Kendra Hoekzema,Kendra Hoekzema,Michaela Fenckova,Malin Kvarnung,Jennifer Gerdts,Sandy Trinh,Nele Cosemans,Laura Vives,Janice Lin,Tychele N. Turner,Gijs W. E. Santen,Claudia A. L. Ruivenkamp,Marjolein Kriek,Arie van Haeringen,Emmelien Aten,Kathryn Friend,Kathryn Friend,Jan Liebelt,Christopher Barnett,Eric Haan,Eric Haan,Marie Shaw,Jozef Gecz,Jozef Gecz,Jozef Gecz,Britt-Marie Anderlid,Ann Nordgren,Anna Lindstrand,Charles E. Schwartz,R. Frank Kooy,Geert Vandeweyer,Céline Helsmoortel,Corrado Romano,Antonino Alberti,Mirella Vinci,Emanuela Avola,Stefania Giusto,Eric Courchesne,Tiziano Pramparo,Karen Pierce,Srinivasa Nalabolu,David G. Amaral,Ingrid E. Scheffer,Ingrid E. Scheffer,Martin B. Delatycki,Paul J. Lockhart,Fereydoun Hormozdiari,Benjamin Harich,Anna Castells-Nobau,Kun Xia,Hilde Peeters,Magnus Nordenskjöld,Annette Schenck,Raphael Bernier,Evan E. Eichler,Evan E. Eichler +60 more
TL;DR: Twenty-five genes showing a bias for autism versus intellectual disability and a network associated with high-functioning autism are highlighted, and clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.