Publications by authors named "Elaine Zackai"

98Publications

Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis.

Am J Med Genet A 2020 Dec 5;182(12):3035-3039. Epub 2020 Oct 5.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.61897DOI Listing
December 2020

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.

Am J Med Genet A 2020 Dec 21;182(12):2919-2925. Epub 2020 Sep 21.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.61878DOI Listing
December 2020

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.

Clin Dysmorphol 2020 Sep 10. Epub 2020 Sep 10.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1097/MCD.0000000000000347DOI Listing
September 2020

Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures.

Int J Pediatr Otorhinolaryngol 2020 Nov 20;138:110236. Epub 2020 Jul 20.

Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2020.110236DOI Listing
November 2020

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

Am J Med Genet B Neuropsychiatr Genet 2020 09 27;183(6):392-400. Epub 2020 Jul 27.

Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.b.32812DOI Listing
September 2020

Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety.

Am J Med Genet A 2020 07 17;182(7):1815-1818. Epub 2020 Apr 17.

Division of Allergy Immunology, The Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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http://dx.doi.org/10.1002/ajmg.a.61588DOI Listing
July 2020

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Am J Hum Genet 2020 05 9;106(5):623-631. Epub 2020 Apr 9.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212259PMC
May 2020

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Am J Med Genet A 2020 05 5;182(5):1104-1116. Epub 2020 Mar 5.

Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

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http://dx.doi.org/10.1002/ajmg.a.61531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202054PMC
May 2020

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

Am J Psychiatry 2020 07 12;177(7):589-600. Epub 2020 Feb 12.

Imaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, Los Angeles (Ching, Villalon Reina, Zavaliangos-Petropulu, Thompson); Department of Biomedical Engineering, Armour College of Engineering, Illinois Institute of Technology, Chicago (Gutman); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, Los Angeles (Ching, Sun, Lin, Jonas, Pacheco-Hansen, Vajdi, Forsyth, Bearden); Department of Psychology, UCLA, Los Angeles (Ching, Forsyth, Bearden); Department of Biomedical Engineering, Oregon Health and Science University, Portland (Ragothaman); Department of Biomedical Engineering, Duke University, Durham, N.C. (Isaev); Graduate Interdepartmental Program in Neuroscience, UCLA School of Medicine, Los Angeles (Lin, Jonas); Department of Psychiatry, University of Pittsburgh, Pittsburgh (Jalbrzikowski); Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, the Netherlands (Bakker, van Amelsvoort); Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers, Amsterdam (Bakker); Department of Psychology, Syracuse University, Syracuse, N.Y. (Antshel); Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse (Fremont, Kates); School of Psychology, University of Newcastle, Newcastle, Australia (Campbell, McCabe); MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis (McCabe, Durdle, Goodrich-Hunsaker, Simon); Institute of Psychiatry, Psychology, and Neuroscience, Sackler Institute for Translational Neurodevelopment, and Department of Forensic and Neurodevelopmental Sciences, King's College London (Craig, Daly, Gudbrandsen, C.M. Murphy, D.G. Murphy); Bethlem Royal Hospital, National Institute for Health Research Maudsley Biomedical Research Centre, and SLaM NHS Foundation Trust, National Autism Unit, London (Craig); Behavioural Genetics Clinic, Adult Autism Service, Behavioural and Developmental Psychiatry Clinical Academic Group, South London and Maudsley NHS Foundation Trust, London (C.M. Murphy, D.G. Murphy); Department of Psychiatry, Royal College of Surgeons in Ireland, and Education and Research Centre, Beaumont Hospital, Dublin (K.C. Murphy); Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (Fiksinski, Koops, Vorstman); Clinical Genetics Research Program (Bassett, Fiksinski, Chow), Clinical Genetics Service (Chow), Campbell Family Mental Health Research Institute (Bassett), Centre for Addiction and Mental Health, Toronto; Dalglish Family 22q Clinic (Bassett, Fiksinski), Department of Mental Health, and Toronto General Hospital Research Institute (Bassett); University Health Network, Toronto (Fiksinski, Bassett); Department of Psychiatry, University of Toronto, Toronto (Bassett, Vorstman, Chow); Program in Genetics and Genome Biology, Research Institute, and Department of Psychiatry, Hospital for Sick Children, Toronto (Vorstman); Division of Human Genetics and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia (Crowley, Emanuel, McDonald-McGinn, Zackai); Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia (Emanuel, McDonald-McGinn, Zackai); Department of Psychiatry, University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia, Philadelphia (Gur); Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia (Roalf, Ruparel); Departments of Radiology and Psychiatry, Hospital of the University of Pennsylvania, Philadelphia (Schmitt); Department of Psychological and Brain Sciences, University of California, Santa Barbara (Durdle); Department of Neurology, University of Utah, Salt Lake City (Goodrich-Hunsaker); Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto (Butcher); Department Psychiatry, University of British Columbia, Vancouver (Vila-Rodriguez); MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, U.K. (Cunningham, Doherty, Linden, Moss, Owen, van den Bree); Cardiff University Brain Research Imaging Centre, Cardiff, U.K. (Doherty, Linden); Department of Psychiatry, Pontificia Universidad Católica de Chile, Santiago (Crossley); Clinica Alemana, Universidad del Desarrollo, Centro de Genética y Genomica, Facultad de Medicina, Santiago (Repetto); Departments of Neurology, Psychiatry, Radiology, Engineering, Pediatrics, and Ophthalmology, University of Southern California, Los Angeles (Thompson).

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http://dx.doi.org/10.1176/appi.ajp.2019.19060583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419015PMC
July 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Am J Med Genet A 2020 04 21;182(4):673-680. Epub 2020 Jan 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61475DOI Listing
April 2020

Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.

Clin Dysmorphol 2020 Apr;29(2):118-120

Children's Hospital of Philadelphia, Division of Human Genetics, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000308DOI Listing
April 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.

Clin Genet 2020 03 10;97(3):502-508. Epub 2019 Nov 10.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

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http://dx.doi.org/10.1111/cge.13660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028510PMC
March 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 11 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

Corrigendum to "The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome" [J. Psychiatr. Res. 92 (2017) 124-131].

J Psychiatr Res 2019 Nov 21;118. Epub 2019 Aug 21.

Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.jpsychires.2019.08.007DOI Listing
November 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

Am J Med Genet A 2019 10 9;179(10):2144-2151. Epub 2019 Jul 9.

Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.61284DOI Listing
October 2019

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Am J Med Genet A 2019 08 20;179(8):1442-1450. Epub 2019 May 20.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61199
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http://dx.doi.org/10.1002/ajmg.a.61199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959001PMC
August 2019

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.

Am J Med Genet A 2019 06 28;179(6):1063-1068. Epub 2019 Mar 28.

Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61121
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http://dx.doi.org/10.1002/ajmg.a.61121DOI Listing
June 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Am J Med Genet A 2019 03 24;179(3):381-385. Epub 2018 Dec 24.

Division of Urology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.61020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491205PMC
March 2019

Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns.

Int J Pediatr Otorhinolaryngol 2019 Jan 12;116:43-48. Epub 2018 Oct 12.

The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1016/j.ijporl.2018.10.016DOI Listing
January 2019

Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome.

Am J Med Genet B Neuropsychiatr Genet 2018 12 16;177(8):765-773. Epub 2018 Nov 16.

Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.b.32690DOI Listing
December 2018

Neurologic challenges in 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 26;176(10):2140-2145. Epub 2018 Oct 26.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.38614
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http://dx.doi.org/10.1002/ajmg.a.38614DOI Listing
October 2018

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 1;176(10):2099-2103. Epub 2018 Oct 1.

Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.40495
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http://dx.doi.org/10.1002/ajmg.a.40495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467273PMC
October 2018

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608433PMC
March 2019

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Am J Med Genet A 2018 10 23;176(10):2203-2214. Epub 2018 Sep 23.

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.40494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467269PMC
October 2018

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Epilepsy Res 2018 09 18;145:89-92. Epub 2018 Jun 18.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology & Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211183002
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http://dx.doi.org/10.1016/j.eplepsyres.2018.06.008DOI Listing
September 2018

Robinow syndrome: a diagnosis at the fingertips.

Clin Dysmorphol 2018 Oct;27(4):135-137

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126946PMC
October 2018

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.

Ophthalmic Genet 2018 06 10;39(3):399-404. Epub 2018 Apr 10.

a Scheie Eye Institute at the Perelman Center for Advanced Medicine , University of Pennsylvania , Philadelphia , PA , USA.

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http://dx.doi.org/10.1080/13816810.2018.1459735DOI Listing
June 2018

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 04;176(4):936-944

The Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873609PMC
April 2018

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

J Thorac Cardiovasc Surg 2018 03 7;155(3):1139-1147.e2. Epub 2017 Dec 7.

Division of Cardiothoracic Surgery, The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jtcvs.2017.08.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931363PMC
March 2018

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

Eur J Med Genet 2018 Jul 12;61(7):411-415. Epub 2018 Feb 12.

The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ejmg.2018.02.006DOI Listing
July 2018

Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.

Cleft Palate Craniofac J 2018 02 14;55(2):296-300. Epub 2017 Dec 14.

1 Division of Plastic Surgery, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/1055665617723918DOI Listing
February 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

Schizophr Bull 2018 06;44(4):824-833

Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1093/schbul/sbx113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007411PMC
June 2018

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

J Allergy Clin Immunol Pract 2018 Mar - Apr;6(2):690-691. Epub 2017 Sep 28.

Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, the Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaip.2017.08.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956571PMC
November 2019

The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.

Am J Med Genet A 2018 10 22;176(10):2121-2127. Epub 2017 Sep 22.

Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38474DOI Listing
October 2018

White matter microstructural deficits in 22q11.2 deletion syndrome.

Psychiatry Res Neuroimaging 2017 Oct 24;268:35-44. Epub 2017 Aug 24.

Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA; Lifespan Brain Institute (LiBI) at the University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.pscychresns.2017.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814141PMC
October 2017

A human case of SLC35A3-related skeletal dysplasia.

Am J Med Genet A 2017 Oct 4;173(10):2758-2762. Epub 2017 Aug 4.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38374DOI Listing
October 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.

J Clin Immunol 2017 Jul 24;37(5):476-485. Epub 2017 May 24.

The 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10875-017-0403-9DOI Listing
July 2017

CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.

Am J Med Genet A 2017 Aug 15;173(8):2101-2107. Epub 2017 May 15.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38277DOI Listing
August 2017

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

J Psychiatr Res 2017 09 15;92:124-131. Epub 2017 Apr 15.

Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2017.04.006DOI Listing
September 2017

Association of airway abnormalities with 22q11.2 deletion syndrome.

Int J Pediatr Otorhinolaryngol 2017 May 21;96:11-14. Epub 2017 Feb 21.

22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.02.012DOI Listing
May 2017