Search Results - "Masser-Frye D"

Parent and patient knowledge and attitudes about cancer predisposition syndrome genetic testing in pediatric oncology: Understanding sociodemographic and parent-child differences.

Authors: Rapoport CS Masser-Frye D Mehta S et al.

Source: Cancer reports (Hoboken, N.J.) [Cancer Rep (Hoboken)] 2024 Sep; Vol. 7 (9), pp. e2119.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101747728 Publication Model: Print Cited Medium: Internet ISSN: 2573-8348 (Electronic) Linking ISSN: 25738348 NLM ISO Abbreviation: Cancer Rep (Hoboken) Subsets: MEDLINE

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Authors: Rinaldi B Bayat A Zachariassen LG et al.

Source: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Authors: Malhotra A Thorpe E Coffey AJ et al.

Corporate Authors: Malhotra A Thorpe E Coffey AJ et al.

Source: HGG advances [HGG Adv] 2025 Jul 10; Vol. 6 (3), pp. 100430. Date of Electronic Publication: 2025 Apr 07.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.

Authors: Napier MP Ryan E Reich A et al.

Source: HGG advances [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100408. Date of Electronic Publication: 2025 Jan 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Authors: Thorpe E Williams T Shaw C et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1271-1281. Date of Electronic Publication: 2024 Jun 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.

Authors: Sun JH Chen J Ayala Valenzuela FE et al.

Source: PLoS genetics [PLoS Genet] 2021 Jun 23; Vol. 17 (6), pp. e1009608. Date of Electronic Publication: 2021 Jun 23 (Print Publication: 2021).

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Authors: Vanderver A Bernard G Helman G et al.

Corporate Authors: Vanderver A Bernard G Helman G et al.

Source: Annals of neurology [Ann Neurol] 2020 Aug; Vol. 88 (2), pp. 264-273. Date of Electronic Publication: 2020 Jun 09.

Publication Type: Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Authors: Scocchia A Wigby KM Masser-Frye D et al.

Corporate Authors: Scocchia A Wigby KM Masser-Frye D et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2019 Feb 14; Vol. 4, pp. 5. Date of Electronic Publication: 2019 Feb 14 (Print Publication: 2019).

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Cornelia de Lange syndrome in diverse populations.

Authors: Dowsett L Porras AR Kruszka P et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Feb; Vol. 179 (2), pp. 150-158. Date of Electronic Publication: 2019 Jan 06.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Authors: Holtz AM VanCoillie R Vansickle EA et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2065-2078. Date of Electronic Publication: 2022 Aug 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.

Authors: Strehle EM Yu L Rosenfeld JA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Sep; Vol. 158A (9), pp. 2139-51. Date of Electronic Publication: 2012 Jul 27.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

The odds and implications of coinheritance of hemophilia A and B.

Authors: Karch C Masser-Frye D Limjoco J et al.

Source: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2020 Jul 12; Vol. 4 (5), pp. 931-935. Date of Electronic Publication: 2020 Jul 12 (Print Publication: 2020).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101703775 Publication Model: eCollection Cited Medium: Internet ISSN: 2475-0379 (Electronic) Linking ISSN: 24750379 NLM ISO Abbreviation: Res Pract Thromb Haemost Subsets: PubMed not MEDLINE

Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism.

Authors: Savla D Del Campo M Masser-Frye D et al.

Source: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2020 May; Vol. 42 (4), pp. 299-301.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE

Leiomyosarcoma in Birt-Hogg-Dubé Syndrome.

Authors: Bird LM Kuo DJ Masser-Frye D et al.

Source: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2020 Mar; Vol. 42 (2), pp. 136-137.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Authors: Zawerton A Mignot C Sigafoos A et al.

Corporate Authors: Zawerton A Mignot C Sigafoos A et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 524-537. Date of Electronic Publication: 2019 Oct 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Authors: Hughes JJ Alkhunaizi E Kruszka P et al.

Source: American journal of human genetics [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 121-128. Date of Electronic Publication: 2019 Dec 26.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Authors: Fountain MD Oleson DS Rech ME et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Aug; Vol. 21 (8), pp. 1797-1807. Date of Electronic Publication: 2019 Jan 25.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Authors: Nguyen TTM Murakami Y Wigby KM et al.

Source: American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 602-611. Date of Electronic Publication: 2018 Sep 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Authors: Zepeda-Mendoza CJ Ibn-Salem J Kammin T et al.

Source: American journal of human genetics [Am J Hum Genet] 2017 Aug 03; Vol. 101 (2), pp. 206-217. Date of Electronic Publication: 2017 Jul 20.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors: Redin C Brand H Collins RL et al.

Source: Nature genetics [Nat Genet] 2017 Jan; Vol. 49 (1), pp. 36-45. Date of Electronic Publication: 2016 Nov 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE