Search Results - "Burrill N"

Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing.

Authors: Callahan KP Wild KT Heck A et al.

Source: JAMA network open [JAMA Netw Open] 2026 Apr 01; Vol. 9 (4), pp. e265689. Date of Electronic Publication: 2026 Apr 01.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE; In Process

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.

Authors: Yang C Harafuji N Watts JA et al.

Source: Kidney international [Kidney Int] 2026 May; Vol. 109 (5), pp. 939-956. Date of Electronic Publication: 2026 Feb 18.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

Authors: Burrill N Teefey CP Wright R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63988. Date of Electronic Publication: 2025 Jan 08.

Publication Type: Case Reports; Journal Article

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

Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

Authors: Burrill N Schindewolf E Pilchman L et al.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Mar; Vol. 45 (3), pp. 310-317. Date of Electronic Publication: 2025 Jan 01.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

Authors: Burrill N Crane H Khalek N et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63719. Date of Electronic Publication: 2024 May 24.

Publication Type: Case Reports; Journal Article

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 Reliability of Ultrasound Markers in Identifying Fetuses With a Life-Limiting Skeletal Dysplasia.

Authors: Crane HM Schindewolf E Burrill N et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 Oct; Vol. 44 (11), pp. 1318-1326. Date of Electronic Publication: 2024 Jul 30.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Expanding Genetic Counselor Roles: A Model for Global Research Development.

Authors: Muraresku CC McCormick EM Rockart L et al.

Source: Genes [Genes (Basel)] 2024 Jul 01; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 01.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Authors: Wild KT Reichert SL Dulik MC et al.

Source: Genetics in medicine open [Genet Med Open] 2025 Nov 20; Vol. 4, pp. 103476. Date of Electronic Publication: 2025 Nov 20 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Authors: Burrill N Khalek N Oliver ER et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 May; Vol. 44 (5), pp. 665-668. Date of Electronic Publication: 2024 Mar 30.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2.

Authors: Burrill N Khalek N Cristancho AG et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 May; Vol. 44 (5), pp. 661-664. Date of Electronic Publication: 2024 Mar 28.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings.

Authors: Wright R Burrill N Crane H et al.

Source: Pediatric neurology [Pediatr Neurol] 2025 Aug; Vol. 169, pp. 93-97. Date of Electronic Publication: 2025 May 15.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.

Authors: Adutwum M Hurst A Mirzaa G et al.

Source: Clinical genetics [Clin Genet] 2023 Jan; Vol. 103 (1), pp. 97-102. Date of Electronic Publication: 2022 Sep 21.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

Authors: Zolkipli-Cunningham Z Xiao R Stoddart A et al.

Source: PloS one [PLoS One] 2018 May 17; Vol. 13 (5), pp. e0197513. Date of Electronic Publication: 2018 May 17 (Print Publication: 2018).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE