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    Academic Journals

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• Select Surgical insights and management in patients with the 22q11.2 deletion syndrome.

  1

  Surgical insights and management in patients with the 22q11.2 deletion syndrome.

  Authors:Patrick E. McGovern, T. Blaine Crowley, Elaine H. Zackai, Evanette Burrows, Donna M. McDonald-McGinn, and Michael L. NanceFrom:Pediatric Surgery International (Vol. 38, Issue 6) Peer-Reviewed

  June 2022319 words Report, Brief articl...

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• Select Poverty and Risk of Cleft Lip and Palate: An Analysis of United States Birth Data.

  2

  Poverty and Risk of Cleft Lip and Palate: An Analysis of United States Birth Data.

  Authors:Giap H. Vu, Clara Warden, Carrie E. Zimmerman, Christopher L. Kalmar, Laura S. Humphries, Donna M. McDonald-McGinn, et al.From:Plastic and Reconstructive Surgery (Vol. 149, Issue 1) Peer-Reviewed

  Jan. 1, 2022555 words Article

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• Select Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

  3

  Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

  Authors:P.M. Thompson, N. Jahanshad, L. Schmaal, J.A. Turner, A. Winkler, S.I. Thomopoulos, et al.From:Human Brain Mapping (Vol. 43, Issue 1) Peer-Reviewed

  Jan. 2022741 words Report

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• Select Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.

  4

  Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.

  Authors:T. Blaine Crowley, Ian M. Campbell, Emily J. Liebling, Michele P. Lambert, Lorraine E. Levitt Katz, Jennifer Heimall, et al.From:The Journal of Allergy and Clinical Immunology (Vol. 149, Issue 1) Peer-Reviewed

  Jan. 2022428 words Report

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• Select Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

  5

  Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

  Authors:Tara L. Wenger, Jonathan Perkins, Julia Parish-Morris, Anne V. Hing, Maida L. Chen, Christopher M. Cielo, et al.From:American Journal of Medical Genetics Part A (Vol. 185, Issue 12) Peer-Reviewed

  Dec. 2021272 words Report, Brief articl...

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• Select RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

  6

  RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

  Authors:Wolfram Demaerel, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos Lopez-Sanchez, Luis A. Perez-Jurado, et al.From:American Journal of Human Genetics (Vol. 101, Issue 4) Peer-Reviewed

  Oct. 5, 2017458 words Author abstract, Rep...

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• Select Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

  7

  Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

  Authors:Donna M. McDonald-McGinn, Nancy J. Butcher, Erik Boot, Anthony E. Lang, Danielle Andrade, Jacob Vorstman, et al.From:American Journal of Medical Genetics Part A (Vol. 176, Issue 10) Peer-Reviewed

  Oct. 2018254 words Report

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• Select Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome.

  8

  Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome.

  Authors:Ruben C. Gur, Tyler M. Moore, Ronnie Weinberger, Ehud Mekori-Domachevsky, Raz Gross, Beverly S. Emanuel, et al.From:Brain and Behavior (Vol. 11, Issue 8) Peer-Reviewed

  Aug. 2021348 words Report, Brief articl...

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• Select Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age

  9

  Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age

  Authors:Doff B. McElhinney, Donna McDonald-McGinn, Elaine H. Zackai, and Elizabeth GoldmuntzFrom:Pediatrics (Vol. 108, Issue 6) Peer-Reviewed

  Dec. 2001395 words Article Objective. Cardiovascular anomalies are present in 75% to 80% of patients with a chromosome 22q11 deletion. In the majority of cases, the cardiovascular defect becomes evident in the neonatal period and is often the...
• Select The Clinical Utility of Flexion-extension Cervical Spine MRI in 22q11.2 Deletion Syndrome

  10

  The Clinical Utility of Flexion-extension Cervical Spine MRI in 22q11.2 Deletion Syndrome

  Authors:Samuel E. Kolman, Stephanie Y. Ohara, Aashim Bhatia, Tamara Feygin, Dino Colo, Keith D. Baldwin, et al.From:Journal of Pediatric Orthopaedics (Vol. 39, Issue 9) Peer-Reviewed

  Oct. 2019326 words Author abstract, Rep...

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• Select Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At-Risk for psychosis

  11

  Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At-Risk for psychosis

  Authors:Paula C. Goldenberg, Monica E. Calkins, Jan Richard, Donna McDonald-McGinn, Elaine Zackai, Nandita Mitra, et al.From:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics (Vol. 159B, Issue 1) Peer-Reviewed

  Jan. 2012435 words Article

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• Select Developmental trajectories in 22q11.2 deletion syndrome

  12

  Developmental trajectories in 22q11.2 deletion syndrome

  Authors:Ann Swillen and Donna McDonald-McGinnFrom:American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 169, Issue 2) Peer-Reviewed

  June 2015382 words Report

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• Select IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS

  13

  IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS

  Authors:Colleen P. Franconi, Donna McDonald-McGinn, Elaine H. Zackai, Meghan A. McNamara, Harold Salmons, Edward Moss, et al.From:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics (Vol. 171, Issue 8) Peer-Reviewed

  Dec. 2016158 words Report

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• Select Otolaryngologic manifestations of the 22q11.2 deletion syndrome

  14

  Otolaryngologic manifestations of the 22q11.2 deletion syndrome

  Authors:Orville Dyce, Donna McDonald-McGinn, Richard E. Kirschner, Elaine Zackai, Kathleen Young, and Ian N. JacobsFrom:Archives of Otolaryngology - Head & Neck Surgery (Vol. 128, Issue 12) Peer-Reviewed

  Dec. 2002 Article

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• Select Psychosis Risk In 22Q11.2 Deletion Syndrome: Findings From The Philadelphia Sample

  15

  Psychosis Risk In 22Q11.2 Deletion Syndrome: Findings From The Philadelphia Sample

  Authors:Raquel Gur, James Yi, Sunny Tang, Monica Calkins, Tyler Moore, James Schmitt, et al.From:European Neuropsychopharmacology (Vol. 27) Peer-Reviewed

  Jan. 1, 2017330 words Report

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

  16

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

  Authors:Ying Dou, T Blaine Crowley, Sean Gallagher, Alice Bailey, Daniel McGinn, Elaine Zackai, et al.From:American Journal of Medical Genetics Part A (Vol. 182, Issue 7) Peer-Reviewed

  July 202047 words Report, Brief articl...

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• Select Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

  17

  Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

  Authors:Elena E. Perez, Aleksandra Bokszczanin, Donna McDonald-McGinn, Elaine H. Zackai, and Kathleen E. SullivanFrom:Pediatrics (Vol. 112, Issue 4) Peer-Reviewed

  Oct. 2003493 words Author abstract The package inserts of live viral vaccines include immunodeficiency as a contraindication. Nevertheless, patients with mild forms of immunodeficiency may benefit from vaccination. No published guidelines exist for the...
• Select Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair

  18

  Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair

  Authors:Oksana A. Jackson, Alison E. Kaye, Alfred Lee, Nancy Minugh-Purvis, Marilyn A. Cohen, Cynthia B. Solot, et al.From:Annals of Plastic Surgery (Vol. 84, Issue 6) Peer-Reviewed

  June 2020442 words Author abstract, Rep...

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• Select 130. Polysomnographic screening of patients with 22q11.2 deletion syndrome before and after posterior pharyngeal flap surgery for velopharyngeal dysfunction

  19

  130. Polysomnographic screening of patients with 22q11.2 deletion syndrome before and after posterior pharyngeal flap surgery for velopharyngeal dysfunction

  Authors:Brian Chang, Kristina Ivanova, Cynthia Solot, Meg Maguire, Donna McDonald-McGinn, Margaret Solders, et al.From:Cleft Palate-Craniofacial Journal (Vol. 54, Issue 3) Peer-Reviewed

  May 2017366 words Abstract, Brief arti... 1650L

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• Select The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.

  20

  The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.

  Authors:Ying Dou, Erica Schindewolf, T. Blaine Crowley, Donna McDonald McGinn, Julie S. Moldenhauer, Beverly Coleman, et al.From:Journal of Clinical Immunology (Vol. 40, Issue 5) Peer-Reviewed

  July 202092 words Brief article

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