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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 Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.

  2

  Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.

  Authors:Dong Li, Helen Downes, Cuiping Hou, Hakon Hakonarson, Elaine H. Zackai, Samantha A. Schrier Vergano, et al.From:American Journal of Medical Genetics Part A (Vol. 188, Issue 3) Peer-Reviewed

  Mar. 2022168 words Report, Brief articl...

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• Select A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

  3

  A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

  Authors:Alanna Strong, Michael E. March, Christopher J. Cardinale, Sophia E. Kim, Jamie Merves, Hilary Whitworth, et al.From:American Journal of Medical Genetics Part A (Vol. 188, Issue 2) Peer-Reviewed

  Feb. 2022215 words Report, Brief articl...

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

  4

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

  5

  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 Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

  6

  Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

  Authors:Alanna Strong, Cara Skraban, Kevin Meyers, Sandra Amaral, Susan Furth, Stacey Drant, et al.From:American Journal of Medical Genetics Part A (Vol. 185, Issue 12) Peer-Reviewed

  Dec. 2021168 words Report, Brief articl...

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• Select Chromatin Modifications in 22q11.2 Deletion Syndrome.

  7

  Chromatin Modifications in 22q11.2 Deletion Syndrome.

  Authors:Zhe Zhang, LiHua Shi, Li Song, Kelly Maurer, Xue Zhao, Elaine H. Zackai, et al.From:Journal of Clinical Immunology (Vol. 41, Issue 8) Peer-Reviewed

  Nov. 2021317 words Report, Brief articl...

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• Select Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

  8

  Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

  Authors:Deepika D'Cunha Burkardt, Pedro A Sanchez-Lara, Katta M Girisha, John C Carey, Katheryn Grand, Cara M. Skraban, et al.From:American Journal of Medical Genetics Part A (Vol. 185, Issue 9) Peer-Reviewed

  Sept. 2021263 words Report, Brief articl...

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

  9

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

  10

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

  Authors:Oksana A. Jackson, Kaitlyn Paine, Leanne Magee, Meg Ann Maguire, Elaine Zackai, Donna M. McDonald-McGinn, et al.From:International Journal of Pediatric Otorhinolaryngology (Vol. 116) Peer-Reviewed

  Jan. 2019384 words Article

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• Select Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care

  11

  Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care

  Authors:Madison A. Grasty, Richard F. Ittenbach, Carol Knightly, Cynthia B. Solot, Marsha Gerdes, Judy C. Bernbaum, et al.From:Journal of Pediatrics (Vol. 192) Peer-Reviewed

  Jan. 2018584 words Report

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• Select Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

  12

  Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

  Authors:Elisabeth E. Mlynarski, Michael Xie, Deanne Taylor, Molly B. Sheridan, Tingwei Guo, Silvia E. Racedo, et al.From:Human Genetics (Vol. 135, Issue 3) Peer-Reviewed

  Mar. 20169,432 words Article 1470LThe 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable;...
• Select Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

  13

  Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

  Authors:Maria Delio, Anne Marie Higgins, Tingwei Guo, Karlene Coleman, Donna M. McDonald-McGinn, Elaine Zackai, et al.From:American Journal of Human Genetics (Vol. 92, Issue 3) Peer-Reviewed

  Mar. 7, 201347 words Report

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• Select A dyadic approach to the delineation of diagnostic entities in clinical genomics.

  14

  A dyadic approach to the delineation of diagnostic entities in clinical genomics.

  Authors:Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, et al.From:American Journal of Human Genetics (Vol. 108, Issue 1) Peer-Reviewed

  Jan. 7, 20211,121 words Article

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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

  15

  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 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

  16

  Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

  Authors:Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D.C. Manson, Livija Medne, et al.From:American Journal of Human Genetics (Vol. 81, Issue 2) Peer-Reviewed

  Aug. 200726 words Article

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• Select Cover Image, Volume 170A, Number 5, May 2016

  17

  Cover Image, Volume 170A, Number 5, May 2016

  Authors:Tooleyleine, Danielle Lynch, Francois Bernier, Jillian Parboosingh, Elizabeth Bhoj, Elaine Zackai, et al.From:American Journal of Medical Genetics Part A (Vol. 170, Issue 5) Peer-Reviewed

  May 201664 words Report

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• Select Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

  18

  Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

  Authors:Tingwei Guo, Jonathan H. Chung, Tao Wang, Donna M. McDonald-McGinn, Wendy R. Kates, Wanda Hawula, et al.From:American Journal of Human Genetics (Vol. 97, Issue 6) Peer-Reviewed

  Dec. 3, 2015325 words Author abstract, Rep...

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

  19

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

  Authors:Amanda Barone Pritchard, Stanley M. Kanai, Bryan Krock, Erica Schindewolf, Jennifer Oliver-Krasinski, Nahla Khalek, et al.From:American Journal of Medical Genetics Part A (Vol. 182, Issue 5) Peer-Reviewed

  May 2020291 words Report, Brief articl...

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

  20

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

  Authors:Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, et al.From:American Journal of Human Genetics (Vol. 102, Issue 1) Peer-Reviewed

  Jan. 4, 20181,237 words Report

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