Search Results - "Barnett CP"

Effect of cisapride on gastric emptying in premature infants with feed intolerance.

Authors: Barnett, CP Omari, T Davidson, GP et al.

Source: Journal of Paediatrics & Child Health. Dec2001, Vol. 37 Issue 6, p559-563. 5p. 1 Chart, 2 Graphs.

Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4.

Authors: Rudaks LI Moore L Shand KL et al.

Source: Pediatric Neurology. Sep2011, Vol. 45 Issue 3, p185-188. 4p.

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Authors: Frank MSB Bennett MK Ha TT et al.

Source: Human genomics [Hum Genomics] 2025 Nov 12; Vol. 19 (1), pp. 132. Date of Electronic Publication: 2025 Nov 12.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.

Authors: Anastasi L Chowdhury A Ashenden A et al.

Source: BMJ open [BMJ Open] 2026 Mar 11; Vol. 16 (3), pp. e108406. Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.

Authors: Schubert CM Jackson MR Barnett CP et al.

Corporate Authors: Schubert CM Jackson MR Barnett CP et al.

Source: Clinical genetics [Clin Genet] 2026 Jan; Vol. 109 (1), pp. 109-121. Date of Electronic Publication: 2025 Aug 09.

Publication Type: Journal Article

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

Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.

Authors: Arthurs AL Jackson MR McCullough D et al.

Source: American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2026 Jan; Vol. 234 (1), pp. 210-229. Date of Electronic Publication: 2025 Aug 29.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0370476 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6868 (Electronic) Linking ISSN: 00029378 NLM ISO Abbreviation: Am J Obstet Gynecol Subsets: MEDLINE

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Authors: Rogers A De Jong L Waters W et al.

Source: The Australian & New Zealand journal of obstetrics & gynaecology [Aust N Z J Obstet Gynaecol] 2024 Oct; Vol. 64 (5), pp. 467-474. Date of Electronic Publication: 2024 Apr 05.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: Australia NLM ID: 0001027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1479-828X (Electronic) Linking ISSN: 00048666 NLM ISO Abbreviation: Aust N Z J Obstet Gynaecol Subsets: MEDLINE

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Authors: Batkovskyte D McKenzie F Taylan F et al.

Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2023 May; Vol. 38 (5), pp. 692-706. Date of Electronic Publication: 2023 Mar 27.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.

Authors: Knight LSW Mullany S Taranath DA et al.

Source: Molecular vision [Mol Vis] 2022 Sep 04; Vol. 28, pp. 257-268. Date of Electronic Publication: 2022 Sep 04 (Print Publication: 2022).

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

Journal Info: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.

Authors: Rogers AP Friend K Rawlings L et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2586-2592. Date of Electronic Publication: 2021 May 01.

Publication Type: Case Reports; Letter

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

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Authors: Souzeau E Siggs OM Pasutto F et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 434-439. Date of Electronic Publication: 2020 Nov 24.

Publication Type: 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

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.

Authors: Best S Brown H Lunke S et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2021 Jan 28; Vol. 6 (1), pp. 5. Date of Electronic Publication: 2021 Jan 28.

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: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Authors: Byrne AB Arts P Ha TT et al.

Corporate Authors: Byrne AB Arts P Ha TT et al.

Source: Nature medicine [Nat Med] 2024 Jan; Vol. 30 (1), pp. 302.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; PubMed not MEDLINE

Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.

Authors: Ludington EG Yu S Bae HA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1824-1828. Date of Electronic Publication: 2020 Apr 24.

Publication Type: Case Reports; Letter

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

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors: Lunke S Eggers S Wilson M et al.

Corporate Authors: Lunke S Eggers S Wilson M et al.

Source: JAMA [JAMA] 2020 Jun 23; Vol. 323 (24), pp. 2503-2511.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Authors: Arts P Garland J Byrne AB et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1273-1277. Date of Electronic Publication: 2020 Mar 06.

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

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Authors: Lunke S Bouffler SE Patel CV et al.

Source: Nature medicine [Nat Med] 2023 Jul; Vol. 29 (7), pp. 1681-1691. Date of Electronic Publication: 2023 Jun 08.

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

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Authors: Stark Z Boughtwood T Haas M et al.

Source: American journal of human genetics [Am J Hum Genet] 2023 Mar 02; Vol. 110 (3), pp. 419-426.

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

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

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Authors: van der Sluijs PJ Joosten M Alby C et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100004.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Authors: Byrne AB Arts P Ha TT et al.

Corporate Authors: Byrne AB Arts P Ha TT et al.

Source: Nature medicine [Nat Med] 2023 Jan; Vol. 29 (1), pp. 180-189. Date of Electronic Publication: 2023 Jan 19.

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

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE