Search Results - "Stuart HM"

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Authors: LaFlamme CW Clarkson C Ibañez K et al.

Source: Genome medicine [Genome Med] 2026 Jul 22. Date of Electronic Publication: 2026 Jul 22.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Detection of Alport gene variants in children and young people with persistent haematuria.

Authors: Ng NSL Yamamura T Shenoy M et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2025 Mar; Vol. 40 (3), pp. 719-729. Date of Electronic Publication: 2024 Oct 01.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Authors: Beaman GM Lopes FM Hofmann A et al.

Source: Frontiers in genetics [Front Genet] 2022 Jun 23; Vol. 13, pp. 896125. Date of Electronic Publication: 2022 Jun 23 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Predicting congenital renal tract malformation genes using machine learning.

Authors: Kabir M Stuart HM Lopes FM et al.

Source: Scientific reports [Sci Rep] 2023 Aug 14; Vol. 13 (1), pp. 13204. Date of Electronic Publication: 2023 Aug 14.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

Authors: Beaman GM Galatà G Teik KW et al.

Source: Clinical genetics [Clin Genet] 2019 Dec; Vol. 96 (6), pp. 515-520. Date of Electronic Publication: 2019 Sep 11.

Publication Type: 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

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

Authors: Beaman GM Woolf AS Cervellione RM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Mar; Vol. 179 (3), pp. 404-409. Date of Electronic Publication: 2019 Jan 09.

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

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

Authors: Preston R Stuart HM Lennon R

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2019 Feb; Vol. 34 (2), pp. 195-210. Date of Electronic Publication: 2017 Nov 27.

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

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.

Authors: Jayadev R Morais MRPT Ellingford JM et al.

Corporate Authors: Jayadev R Morais MRPT Ellingford JM et al.

Source: Science advances [Sci Adv] 2022 May 20; Vol. 8 (20), pp. eabn2265. Date of Electronic Publication: 2022 May 18.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

Authors: Molina-Ramírez LP Kyle C Ellingford JM et al.

Source: Journal of medical genetics [J Med Genet] 2022 Apr; Vol. 59 (4), pp. 393-398. Date of Electronic Publication: 2021 Apr 20.

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

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.

Authors: Lennon R Stuart HM Bierzynska A et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2015 Sep; Vol. 30 (9), pp. 1459-65. Date of Electronic Publication: 2015 Mar 05.

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

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

Authors: Roberts NA Woolf AS Stuart HM et al.

Source: Human molecular genetics [Hum Mol Genet] 2014 Aug 15; Vol. 23 (16), pp. 4302-14. Date of Electronic Publication: 2014 Apr 01.

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

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

Authors: Woolf AS Stuart HM Roberts NA et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2014 Apr; Vol. 29 (4), pp. 513-8. Date of Electronic Publication: 2013 Jul 09.

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

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Genetics of human congenital urinary bladder disease.

Authors: Woolf AS Stuart HM Newman WG

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2014 Mar; Vol. 29 (3), pp. 353-60. Date of Electronic Publication: 2013 Apr 13.

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

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.

Authors: Harkness JR Beaman GM Teik KW et al.

Source: Kidney international reports [Kidney Int Rep] 2020 Jul 14; Vol. 5 (10), pp. 1823-1827. Date of Electronic Publication: 2020 Jul 14 (Print Publication: 2020).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Authors: Kolvenbach CM Dworschak GC Frese S et al.

Source: American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 994-1006.

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

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Authors: Roberts NA Hilton EN Lopes FM et al.

Source: Kidney international [Kidney Int] 2019 May; Vol. 95 (5), pp. 1138-1152. Date of Electronic Publication: 2019 Mar 08.

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

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

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Authors: Cuvertino S Stuart HM Chandler KE et al.

Corporate Authors: Cuvertino S Stuart HM Chandler KE et al.

Source: American journal of human genetics [Am J Hum Genet] 2017 Dec 07; Vol. 101 (6), pp. 1021-1033.

Publication Type: Journal Article

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