Ghayda M Mirzaa

Ghayda M Mirzaa

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Ghayda M Mirzaa

Ghayda M Mirzaa

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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Authors:
Alexandria T M Blackburn Nasim Bekheirnia Vanessa C Uma Mark E Corkins Yuxiao Xu Jill A Rosenfeld Matthew N Bainbridge Yaping Yang Pengfei Liu Suneeta Madan-Khetarpal Mauricio R Delgado Louanne Hudgins Ian Krantz David Rodriguez-Buritica Patricia G Wheeler Lihadh Al-Gazali Aisha Mohamed Saeed Mohamed Al Shamsi Natalia Gomez-Ospina Hsiao-Tuan Chao Ghayda M Mirzaa Angela E Scheuerle Mary K Kukolich Fernando Scaglia Christine Eng Helen Rankin Willsey Michael C Braun Dolores J Lamb Rachel K Miller Mir Reza Bekheirnia

Genet Med 2019 12 2;21(12):2755-2764. Epub 2019 Jul 2.

Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41436-019-0576-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895419PMC
December 2019

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Authors:
William B Dobyns Ghayda M Mirzaa

Am J Med Genet C Semin Med Genet 2019 12 23;181(4):582-590. Epub 2019 Aug 23.

University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.c.31736DOI Listing
December 2019

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Authors:
Nichole Link Hyunglok Chung Angad Jolly Marjorie Withers Burak Tepe Benjamin R Arenkiel Priya S Shah Nevan J Krogan Hatip Aydin Bilgen B Geckinli Tulay Tos Sedat Isikay Beyhan Tuysuz Ganesh H Mochida Ajay X Thomas Robin D Clark Ghayda M Mirzaa James R Lupski Hugo J Bellen

Dev Cell 2019 Dec 14;51(6):713-729.e6. Epub 2019 Nov 14.

Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; MD/PhD Medical Scientist Training Program and MHG Graduate program, BCM, Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2019.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917859PMC
December 2019

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Authors:
Alexandria T M Blackburn Nasim Bekheirnia Vanessa C Uma Mark E Corkins Yuxiao Xu Jill A Rosenfeld Matthew N Bainbridge Yaping Yang Pengfei Liu Suneeta Madan-Khetarpal Mauricio R Delgado Louanne Hudgins Ian Krantz David Rodriguez-Buritica Patricia G Wheeler Lihadh Al-Gazali Aisha Mohamed Saeed Mohamed Al Shamsi Natalia Gomez-Ospina Hsiao-Tuan Chao Ghayda M Mirzaa Angela E Scheuerle Mary K Kukolich Fernando Scaglia Christine Eng Helen Rankin Willsey Michael C Braun Dolores J Lamb Rachel K Miller Mir Reza Bekheirnia

Genet Med 2019 Dec 20. Epub 2019 Dec 20.

Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41436-019-0732-6DOI Listing
December 2019

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Authors:
Susanne Horn Margaret Au Lina Basel-Salmon Pinar Bayrak-Toydemir Alexander Chapin Lior Cohen Mariet W Elting John M Graham Claudia Gonzaga-Jauregui Osnat Konen Max Holzer Johannes Lemke Christine E Miller Linda K Rey Nicole I Wolf Marjan M Weiss Quinten Waisfisz Ghayda M Mirzaa Dagmar Wieczorek Heinrich Sticht Rami Abou Jamra

Brain 2019 Nov;142(11):3351-3359

Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1093/brain/awz264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821231PMC
November 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Authors:
Ghayda M Mirzaa Jessica X Chong Amélie Piton Bernt Popp Kimberly Foss Hui Guo Ricardo Harripaul Kun Xia Joshua Scheck Kimberly A Aldinger Samin A Sajan Sha Tang Dominique Bonneau Anita Beck Janson White Sonal Mahida Jacqueline Harris Constance Smith-Hicks Juliane Hoyer Christiane Zweier André Reis Christian T Thiel Rami Abou Jamra Natasha Zeid Amy Yang Laura S Farach Laurence Walsh Katelyn Payne Luis Rohena Milen Velinov Alban Ziegler Elise Schaefer Vincent Gatinois David Geneviève Marleen E H Simon Jennefer Kohler Joshua Rotenberg Patricia Wheeler Austin Larson Michelle E Ernst Cigdem I Akman Rachel Westman Patricia Blanchet Lori-Anne Schillaci Catherine Vincent-Delorme Karen W Gripp Francesca Mattioli Gwenaël Le Guyader Bénédicte Gerard Michèle Mathieu-Dramard Gilles Morin Roksana Sasanfar Muhammad Ayub Nasim Vasli Sandra Yang Rick Person Kristin G Monaghan Deborah A Nickerson Ellen van Binsbergen Gregory M Enns Annika M Dries Leah J Rowe Anne C H Tsai Shayna Svihovec Jennifer Friedman Zehra Agha Raheel Qamar Lance H Rodan Julian Martinez-Agosto Charlotte W Ockeloen Marie Vincent William James Sunderland Jonathan A Bernstein Evan E Eichler John B Vincent Michael J Bamshad

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Authors:
Pamela Magini Daphne J Smits Laura Vandervore Rachel Schot Marta Columbaro Esmee Kasteleijn Mees van der Ent Flavia Palombo Maarten H Lequin Marjolein Dremmen Marie Claire Y de Wit Mariasavina Severino Maria Teresa Divizia Pasquale Striano Natalia Ordonez-Herrera Amal Alhashem Ahmed Al Fares Malak Al Ghamdi Arndt Rolfs Peter Bauer Jeroen Demmers Frans W Verheijen Martina Wilke Marjon van Slegtenhorst Peter J van der Spek Marco Seri Anna C Jansen Rolf W Stottmann Robert B Hufnagel Robert J Hopkin Deema Aljeaid Wojciech Wiszniewski Pawel Gawlinski Milena Laure-Kamionowska Fowzan S Alkuraya Hanah Akleh Valentina Stanley Damir Musaev Joseph G Gleeson Maha S Zaki Nicola Brunetti-Pierri Gerarda Cappuccio Bella Davidov Lina Basel-Salmon Lily Bazak Noa Ruhrman Shahar Aida Bertoli-Avella Ghayda M Mirzaa William B Dobyns Tommaso Pippucci Maarten Fornerod Grazia M S Mancini

Am J Hum Genet 2019 Oct 5;105(4):689-705. Epub 2019 Sep 5.

Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817560PMC
October 2019

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Authors:
Sangmoon Lee Dillon Y Chen Maha S Zaki Reza Maroofian Henry Houlden Nataliya Di Donato Dalia Abdin Heba Morsy Ghayda M Mirzaa William B Dobyns Jennifer McEvoy-Venneri Valentina Stanley Kiely N James Grazia M S Mancini Rachel Schot Tugba Kalayci Umut Altunoglu Ehsan Ghayoor Karimiani Lauren Brick Mariya Kozenko Yalda Jamshidi M Chiara Manzini Mehran Beiraghi Toosi Joseph G Gleeson

Am J Hum Genet 2019 Oct;105(4):844-853

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817548PMC
October 2019

Redefining the Etiologic Landscape of Cerebellar Malformations.

Authors:
Kimberly A Aldinger Andrew E Timms Zachary Thomson Ghayda M Mirzaa James T Bennett Alexander B Rosenberg Charles M Roco Matthew Hirano Fatima Abidi Parthiv Haldipur Chi V Cheng Sarah Collins Kaylee Park Jordan Zeiger Lynne M Overmann Fowzan S Alkuraya Leslie G Biesecker Stephen R Braddock Sara Cathey Megan T Cho Brian H Y Chung David B Everman Yuri A Zarate Julie R Jones Charles E Schwartz Amy Goldstein Robert J Hopkin Ian D Krantz Roger L Ladda Kathleen A Leppig Barbara C McGillivray Susan Sell Katherine Wusik Joseph G Gleeson Deborah A Nickerson Michael J Bamshad Dianne Gerrelli Steven N Lisgo Georg Seelig Gisele E Ishak A James Barkovich Cynthia J Curry Ian A Glass Kathleen J Millen Dan Doherty William B Dobyns

Am J Hum Genet 2019 Sep 29;105(3):606-615. Epub 2019 Aug 29.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Neurology, University of Washington, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731369PMC
September 2019

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Authors:
William B Dobyns Kimberly A Aldinger Gisele E Ishak Ghayda M Mirzaa Andrew E Timms Megan E Grout Marjolein H G Dremmen Rachel Schot Laura Vandervore Marjon A van Slegtenhorst Martina Wilke Esmee Kasteleijn Arthur S Lee Brenda J Barry Katherine R Chao Krzysztof Szczałuba Joyce Kobori Andrea Hanson-Kahn Jonathan A Bernstein Lucinda Carr Felice D'Arco Kaori Miyana Tetsuya Okazaki Yoshiaki Saito Masayuki Sasaki Soma Das Marsha M Wheeler Michael J Bamshad Deborah A Nickerson Elizabeth C Engle Frans W Verheijen Dan Doherty Grazia M S Mancini

Am J Hum Genet 2018 12 21;103(6):1009-1021. Epub 2018 Nov 21.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183037
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http://dx.doi.org/10.1016/j.ajhg.2018.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288423PMC
December 2018

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Authors:
Xiuhua Bozarth Jennifer N Dines Qian Cong Ghayda M Mirzaa Kimberly Foss J Lawrence Merritt Jenny Thies Heather C Mefford Edward Novotny

Am J Med Genet A 2018 12 4;176(12):2733-2739. Epub 2018 Dec 4.

Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.40657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312477PMC
December 2018

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Authors:
Nataliya Di Donato Andrew E Timms Kimberly A Aldinger Ghayda M Mirzaa James T Bennett Sarah Collins Carissa Olds Davide Mei Sara Chiari Gemma Carvill Candace T Myers Jean-Baptiste Rivière Maha S Zaki Joseph G Gleeson Andreas Rump Valerio Conti Elena Parrini M Elizabeth Ross David H Ledbetter Renzo Guerrini William B Dobyns

Genet Med 2018 11 19;20(11):1354-1364. Epub 2018 Apr 19.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2018.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195491PMC
November 2018

Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.

Authors:
Andrew M Piacitelli Dana M Jensen Heather Brandling-Bennett Megan Mariner Gray Maneesh Batra Juliane Gust Ameet Thaker Catherine Paschal Karen Tsuchiya Colin C Pritchard Jonathan Perkins Ghayda M Mirzaa James T Bennett

Am J Med Genet A 2018 11 31;176(11):2301-2308. Epub 2018 Jul 31.

Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.40487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290925PMC
November 2018

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Authors:
Ina Schanze Jens Bunt Jonathan W C Lim Denny Schanze Ryan J Dean Marielle Alders Patricia Blanchet Tania Attié-Bitach Siren Berland Steven Boogert Sangamitra Boppudi Caitlin J Bridges Megan T Cho William B Dobyns Dian Donnai Jessica Douglas Dawn L Earl Timothy J Edwards Laurence Faivre Brieana Fregeau David Genevieve Marion Gérard Vincent Gatinois Muriel Holder-Espinasse Samuel F Huth Kosuke Izumi Bronwyn Kerr Elodie Lacaze Phillis Lakeman Sonal Mahida Ghayda M Mirzaa Sian M Morgan Catherine Nowak Hilde Peeters Florence Petit Daniela T Pilz Jacques Puechberty Eyal Reinstein Jean-Baptiste Rivière Avni B Santani Anouck Schneider Elliott H Sherr Constance Smith-Hicks Ilse Wieland Elaine Zackai Xiaonan Zhao Richard M Gronostajski Martin Zenker Linda J Richards

Am J Hum Genet 2018 11;103(5):752-768

Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia; School of Biomedical Sciences, The Faculty of Medicine Brisbane, The University of Queensland, Brisbane, QLD 4072, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218805PMC
November 2018

Further delineation of Malan syndrome.

Authors:
Manuela Priolo Denny Schanze Katrin Tatton-Brown Paul A Mulder Jair Tenorio Kreepa Kooblall Inés Hernández Acero Fowzan S Alkuraya Pedro Arias Laura Bernardini Emilia K Bijlsma Trevor Cole Christine Coubes Irene Dapia Sally Davies Nataliya Di Donato Nursel H Elcioglu Jill A Fahrner Alison Foster Noelia García González Ilka Huber Maria Iascone Ann-Sophie Kaiser Arveen Kamath Jan Liebelt Sally Ann Lynch Saskia M Maas Corrado Mammì Inge B Mathijssen Shane McKee Leonie A Menke Ghayda M Mirzaa Tara Montgomery Dorothee Neubauer Thomas E Neumann Letizia Pintomalli Maria Antonietta Pisanti Astrid S Plomp Sue Price Claire Salter Fernando Santos-Simarro Pierre Sarda Mabel Segovia Charles Shaw-Smith Sarah Smithson Mohnish Suri Rita Maria Valdez Arie Van Haeringen Johanna M Van Hagen Marcela Zollino Pablo Lapunzina Rajesh V Thakker Martin Zenker Raoul C Hennekam

Hum Mutat 2018 09 25;39(9):1226-1237. Epub 2018 Jun 25.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175110PMC
September 2018

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

Authors:
Gaia Ruggeri Andrew E Timms Chi Cheng Avery Weiss Peter Kollros Teresa Chapman Hannah Tully Ghayda M Mirzaa

Am J Med Genet A 2018 03 17;176(3):676-681. Epub 2018 Jan 17.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871351PMC
March 2018

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Authors:
Andrew E Fry Katherine A Fawcett Nathanel Zelnik Hongjie Yuan Belinda A N Thompson Lilach Shemer-Meiri Thomas D Cushion Hood Mugalaasi David Sims Neil Stoodley Seo-Kyung Chung Mark I Rees Chirag V Patel Louise A Brueton Valérie Layet Fabienne Giuliano Michael P Kerr Ehud Banne Vardiella Meiner Tally Lerman-Sagie Katherine L Helbig Laura H Kofman Kristin M Knight Wenjuan Chen Varun Kannan Chun Hu Hirofumi Kusumoto Jin Zhang Sharon A Swanger Gil H Shaulsky Ghayda M Mirzaa Alison M Muir Heather C Mefford William B Dobyns Amanda B Mackenzie Jonathan G L Mullins Johannes R Lemke Nadia Bahi-Buisson Stephen F Traynelis Heledd F Iago Daniela T Pilz

Brain 2018 03;141(3):698-712

Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/brain/awx358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837214PMC
March 2018

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Authors:
Simone Martinelli Oliver H F Krumbach Francesca Pantaleoni Simona Coppola Ehsan Amin Luca Pannone Kazem Nouri Luciapia Farina Radovan Dvorsky Francesca Lepri Marcel Buchholzer Raphael Konopatzki Laurence Walsh Katelyn Payne Mary Ella Pierpont Samantha Schrier Vergano Katherine G Langley Douglas Larsen Kelly D Farwell Sha Tang Cameron Mroske Ivan Gallotta Elia Di Schiavi Matteo Della Monica Licia Lugli Cesare Rossi Marco Seri Guido Cocchi Lindsay Henderson Berivan Baskin Mariëlle Alders Roberto Mendoza-Londono Lucie Dupuis Deborah A Nickerson Jessica X Chong Naomi Meeks Kathleen Brown Tahnee Causey Megan T Cho Stephanie Demuth Maria Cristina Digilio Bruce D Gelb Michael J Bamshad Martin Zenker Mohammad Reza Ahmadian Raoul C Hennekam Marco Tartaglia Ghayda M Mirzaa

Am J Hum Genet 2018 02 25;102(2):309-320. Epub 2018 Jan 25.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985417PMC
February 2018

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.

Authors:
Savannah Michels Kimberly Foss Kaylee Park Katie Golden-Grant Russell Saneto Jonathan Lopez Ghayda M Mirzaa

Am J Med Genet A 2017 Dec 19;173(12):3127-3131. Epub 2017 Oct 19.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687290PMC
December 2017

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Authors:
Diana Alcantara Andrew E Timms Karen Gripp Laura Baker Kaylee Park Sarah Collins Chi Cheng Fiona Stewart Sarju G Mehta Anand Saggar László Sztriha Melinda Zombor Oana Caluseriu Ronit Mesterman Margot I Van Allen Adeline Jacquinet Sofia Ygberg Jonathan A Bernstein Aaron M Wenger Harendra Guturu Gill Bejerano Natalia Gomez-Ospina Anna Lehman Enrico Alfei Chiara Pantaleoni Valerio Conti Renzo Guerrini Ute Moog John M Graham Robert Hevner William B Dobyns Mark O'Driscoll Ghayda M Mirzaa

Brain 2017 Oct;140(10):2610-2622

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.

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https://academic.oup.com/brain/article/140/10/2610/4107301
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http://dx.doi.org/10.1093/brain/awx203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080423PMC
October 2017

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Authors:
Kaylee Park Laurie E Seltzer Emily Tuttle Ghayda M Mirzaa Alex R Paciorkowski

Am J Med Genet A 2017 Jul 2;173(7):1951-1954. Epub 2017 May 2.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.38236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5878136PMC
July 2017

Lissencephaly: Expanded imaging and clinical classification.

Authors:
Nataliya Di Donato Sara Chiari Ghayda M Mirzaa Kimberly Aldinger Elena Parrini Carissa Olds A James Barkovich Renzo Guerrini William B Dobyns

Am J Med Genet A 2017 Jun 25;173(6):1473-1488. Epub 2017 Apr 25.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526446PMC
June 2017

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Authors:
Nataliya Di Donato Ying Y Jean A Murat Maga Briana D Krewson Alison B Shupp Maria I Avrutsky Achira Roy Sarah Collins Carissa Olds Rebecca A Willert Agnieszka M Czaja Rachel Johnson Jessi A Stover Steven Gottlieb Deborah Bartholdi Anita Rauch Amy Goldstein Victoria Boyd-Kyle Kimberly A Aldinger Ghayda M Mirzaa Anke Nissen Karlla W Brigatti Erik G Puffenberger Kathleen J Millen Kevin A Strauss William B Dobyns Carol M Troy Robert N Jinks

Am J Hum Genet 2016 Nov 20;99(5):1117-1129. Epub 2016 Oct 20.

Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097945PMC
November 2016

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Authors:
Ghayda M Mirzaa Catarina D Campbell Nadia Solovieff Carleton Goold Laura A Jansen Suchithra Menon Andrew E Timms Valerio Conti Jonathan D Biag Carissa Adams Evan August Boyle Sarah Collins Gisele Ishak Sandra Poliachik Katta M Girisha Kit San Yeung Brian Hon Yin Chung Elisa Rahikkala Sonya A Gunter Sharon S McDaniel Colleen Forsyth Macmurdo Jonathan A Bernstein Beth Martin Rebecca Leary Scott Mahan Shanming Liu Molly Weaver Michael Doerschner Shalini Jhangiani Donna M Muzny Eric Boerwinkle Richard A Gibbs James R Lupski Jay Shendure Russell P Saneto Edward J Novotny Christopher J Wilson William R Sellers Michael Morrissey Robert F Hevner Jeffrey G Ojemann Renzo Guerrini Leon O Murphy Wendy Winckler William B Dobyns

JAMA Neurol 2016 07;73(7):836-845

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1001/jamaneurol.2016.0363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4979321PMC
July 2016

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Authors:
Nataliya Di Donato Andreas Rump Ghayda M Mirzaa Diana Alcantara Antony Oliver Evelin Schrock William B Dobyns Mark O'Driscoll

Hum Mutat 2016 Mar 15;37(3):242-5. Epub 2015 Dec 15.

Genome Damage & Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

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http://dx.doi.org/10.1002/humu.22933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752430PMC
March 2016

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Authors:
Lijia Huang Megan R Vanstone Taila Hartley Matthew Osmond Nick Barrowman Judith Allanson Laura Baker Tabib A Dabir Katrina M Dipple William B Dobyns Jane Estrella Hanna Faghfoury Francine P Favaro Himanshu Goel Pernille A Gregersen Karen W Gripp Art Grix Maria-Leine Guion-Almeida Margaret H Harr Cindy Hudson Alasdair G W Hunter John Johnson Shelagh K Joss Amy Kimball Usha Kini Antonie D Kline Julie Lauzon Dorte L Lildballe Vanesa López-González Johanna Martinezmoles Cliff Meldrum Ghayda M Mirzaa Chantal F Morel Jenny E V Morton Louise C Pyle Fabiola Quintero-Rivera Julie Richer Angela E Scheuerle Bitten Schönewolf-Greulich Deborah J Shears Josh Silver Amanda C Smith I Karen Temple Jiddeke M van de Kamp Fleur S van Dijk Anthony M Vandersteen Sue M White Elaine H Zackai Ruobing Zou Dennis E Bulman Kym M Boycott Matthew A Lines

Hum Mutat 2016 Feb 19;37(2):148-54. Epub 2015 Nov 19.

The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512564PMC
February 2016

Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86".

Authors:
Ghayda M Mirzaa Sarah Collins William B Dobyns

Am J Med Genet A 2016 02 14;170(2):547. Epub 2015 Nov 14.

Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37449DOI Listing
February 2016

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Authors:
Kelly Q McMahon Apostolos Papandreou Mandy Ma Brenda J Barry Ghayda M Mirzaa William B Dobyns Richard H Scott Natalie Trump Manju A Kurian Alex R Paciorkowski

Am J Med Genet A 2015 Dec 14;167A(12):3096-102. Epub 2015 Sep 14.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.37353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715619PMC
December 2015

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Authors:
Ghayda M Mirzaa Valerio Conti Andrew E Timms Christopher D Smyser Sarah Ahmed Melissa Carter Sarah Barnett Robert B Hufnagel Amy Goldstein Yoko Narumi-Kishimoto Carissa Olds Sarah Collins Kathreen Johnston Jean-François Deleuze Patrick Nitschké Kathryn Friend Catharine Harris Allison Goetsch Beth Martin Evan August Boyle Elena Parrini Davide Mei Lorenzo Tattini Anne Slavotinek Ed Blair Christopher Barnett Jay Shendure Jamel Chelly William B Dobyns Renzo Guerrini

Lancet Neurol 2015 Dec 29;14(12):1182-95. Epub 2015 Oct 29.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(15)00278-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672724PMC
December 2015

An integrative computational approach for prioritization of genomic variants.

Authors:
Inna Dubchak Sandhya Balasubramanian Sheng Wang Meydan Cem Cem Meyden Dinanath Sulakhe Alexander Poliakov Daniela Börnigen Bingqing Xie Andrew Taylor Jianzhu Ma Alex R Paciorkowski Ghayda M Mirzaa Paul Dave Gady Agam Jinbo Xu Lihadh Al-Gazali Christopher E Mason M Elizabeth Ross Natalia Maltsev T Conrad Gilliam

PLoS One 2014 15;9(12):e114903. Epub 2014 Dec 15.

Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America; Computation Institute, University of Chicago/Argonne National Laboratory, Chicago, Illinois, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114903PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266634PMC
November 2015

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Authors:
Laura A Jansen Ghayda M Mirzaa Gisele E Ishak Brian J O'Roak Joseph B Hiatt William H Roden Sonya A Gunter Susan L Christian Sarah Collins Carissa Adams Jean-Baptiste Rivière Judith St-Onge Jeffrey G Ojemann Jay Shendure Robert F Hevner William B Dobyns

Brain 2015 Jun 25;138(Pt 6):1613-28. Epub 2015 Feb 25.

2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA 3 University of Washington, Paediatrics, Seattle, WA, USA.

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http://brain.oxfordjournals.org/content/brain/early/2015/02/
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awv045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614119PMC
June 2015

Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.

Authors:
Laura P Chen Anita E Beck Karen D Tsuchiya Penny M Chow Ghayda M Mirzaa Rebecca T Wiester Kenneth W Feldman

Pediatrics 2015 Mar;135(3):e736-9

Seattle Children's Hospital, Seattle, Washington; Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Protection Program, Seattle, Washington

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http://dx.doi.org/10.1542/peds.2014-2593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338324PMC
March 2015

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

Authors:
Ghayda M Mirzaa Laura Enyedi Gretchen Parsons Sarah Collins Livija Medne Carissa Adams Thomas Ward Bradley Davitt Alma Bicknese Elaine Zackai Helga Toriello William B Dobyns Susan Christian

Am J Med Genet A 2014 Nov 12;164A(11):2879-86. Epub 2014 Aug 12.

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205200PMC
November 2014

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Authors:
Ghayda M Mirzaa Benjamin Vitre Gillian Carpenter Iga Abramowicz Joseph G Gleeson Alex R Paciorkowski Don W Cleveland William B Dobyns Mark O'Driscoll

Hum Genet 2014 Aug 20;133(8):1023-39. Epub 2014 Apr 20.

Division of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.

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http://link.springer.com/10.1007/s00439-014-1443-3
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http://dx.doi.org/10.1007/s00439-014-1443-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415612PMC
August 2014

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

Authors:
Ghayda M Mirzaa Kathleen J Millen A James Barkovich William B Dobyns Alex R Paciorkowski

Am J Med Genet A 2014 Jun 3;164A(6):1503-11. Epub 2014 Apr 3.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279915PMC
June 2014

Introduction: Brain malformations.

Authors:
Ghayda M Mirzaa Alex R Paciorkowski

Am J Med Genet C Semin Med Genet 2014 Jun 22;166C(2):117-23. Epub 2014 May 22.

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http://dx.doi.org/10.1002/ajmg.c.31404DOI Listing
June 2014

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.

Authors:
Ghayda M Mirzaa Annapurna Poduri

Am J Med Genet C Semin Med Genet 2014 Jun 28;166C(2):156-72. Epub 2014 May 28.

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http://dx.doi.org/10.1002/ajmg.c.31401DOI Listing
June 2014

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Authors:
Daniel T Swarr Nahla Khalek James Treat Margaret A Horton Ghayda M Mirzaa Jean-Baptiste Riviere William B Dobyns Elaine H Zackai

Prenat Diagn 2013 Oct 23;33(10):1010-2. Epub 2013 Jul 23.

Division of Human Genetics, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Neonatology, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/pd.4178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962827PMC
October 2013

The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.

Authors:
Ghayda M Mirzaa William B Dobyns

Am J Med Genet A 2013 Aug 24;161A(8):2115-6. Epub 2013 Jun 24.

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http://dx.doi.org/10.1002/ajmg.a.35940DOI Listing
August 2013

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

Authors:
Laura M McDonell Ghayda M Mirzaa Diana Alcantara Jeremy Schwartzentruber Melissa T Carter Leo J Lee Carol L Clericuzio John M Graham Deborah J Morris-Rosendahl Tilman Polster Gyula Acsadi Sharron Townshend Simon Williams Anne Halbert Bertrand Isidor Albert David Christopher D Smyser Alex R Paciorkowski Marcia Willing John Woulfe Soma Das Chandree L Beaulieu Janet Marcadier Michael T Geraghty Brendan J Frey Jacek Majewski Dennis E Bulman William B Dobyns Mark O'Driscoll Kym M Boycott

Nat Genet 2013 May 31;45(5):556-62. Epub 2013 Mar 31.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/ng.2602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000253PMC
May 2013

CDKL5 and ARX mutations in males with early-onset epilepsy.

Authors:
Ghayda M Mirzaa Alex R Paciorkowski Eric D Marsh Elizabeth M Berry-Kravis Livija Medne Asem Alkhateeb Art Grix Elaine C Wirrell Berkley R Powell Katherine C Nickels Barbara Burton Andrea Paras Katherine Kim Wendy Chung William B Dobyns Soma Das

Pediatr Neurol 2013 May;48(5):367-77

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742321PMC
May 2013

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Authors:
Ghayda M Mirzaa Jean-Baptiste Rivière William B Dobyns

Am J Med Genet C Semin Med Genet 2013 May 16;163C(2):122-30. Epub 2013 Apr 16.

Department of Pediatrics, Center for Integrative Brain Research, University of Washington, Seattle Children's Research Institute, Seattle, WA, USA.

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http://doi.wiley.com/10.1002/ajmg.c.31361
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http://dx.doi.org/10.1002/ajmg.c.31361DOI Listing
May 2013

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Authors:
Jean-Baptiste Rivière Ghayda M Mirzaa Brian J O'Roak Margaret Beddaoui Diana Alcantara Robert L Conway Judith St-Onge Jeremy A Schwartzentruber Karen W Gripp Sarah M Nikkel Thea Worthylake Christopher T Sullivan Thomas R Ward Hailly E Butler Nancy A Kramer Beate Albrecht Christine M Armour Linlea Armstrong Oana Caluseriu Cheryl Cytrynbaum Beth A Drolet A Micheil Innes Julie L Lauzon Angela E Lin Grazia M S Mancini Wendy S Meschino James D Reggin Anand K Saggar Tally Lerman-Sagie Gökhan Uyanik Rosanna Weksberg Birgit Zirn Chandree L Beaulieu Jacek Majewski Dennis E Bulman Mark O'Driscoll Jay Shendure John M Graham Kym M Boycott William B Dobyns

Nat Genet 2012 Jun 24;44(8):934-40. Epub 2012 Jun 24.

Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.2331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408813PMC
June 2012

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Authors:
Ghayda M Mirzaa Robert L Conway Karen W Gripp Tally Lerman-Sagie Dawn H Siegel Linda S deVries Dorit Lev Nancy Kramer Elizabeth Hopkins John M Graham William B Dobyns

Am J Med Genet A 2012 Feb 6;158A(2):269-91. Epub 2012 Jan 6.

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.34402DOI Listing
February 2012

The microcephaly-capillary malformation syndrome.

Authors:
Ghayda M Mirzaa Alex R Paciorkowski Christopher D Smyser Marcia C Willing Anne C Lind William B Dobyns

Am J Med Genet A 2011 Sep 3;155A(9):2080-7. Epub 2011 Aug 3.

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.34118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428374PMC
September 2011