Search Results - "Freckmann ML"

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Authors: Stewart N Henden N Smith-Díaz CC et al.

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2026 Jun 02, pp. e005703. Date of Electronic Publication: 2026 Jun 02.

Publication Type: Letter

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Authors: Hock DH Caruana NJ Semcesen LN et al.

Corporate Authors: Hock DH Caruana NJ Semcesen LN et al.

Source: Genome medicine [Genome Med] 2025 May 22; Vol. 17 (1), pp. 58. Date of Electronic Publication: 2025 May 22.

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

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

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Authors: Ball M Bouffler SE Barnett CB et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101293. Date of Electronic Publication: 2024 Oct 15.

Publication Type: Journal Article

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

Paediatric genomic testing: Navigating genomic reports for the general paediatrician.

Authors: Shah M Selvanathan A Baynam G et al.

Source: Journal of paediatrics and child health [J Paediatr Child Health] 2022 Jan; Vol. 58 (1), pp. 8-15. Date of Electronic Publication: 2021 Aug 23.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Paediatric genomic testing: Navigating medicare rebatable genomic testing.

Authors: Sachdev R Field M Baynam GS et al.

Source: Journal of paediatrics and child health [J Paediatr Child Health] 2021 Apr; Vol. 57 (4), pp. 477-483. Date of Electronic Publication: 2021 Feb 10.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors: Koczkowska M Callens T Chen Y et al.

Source: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 299-315. Date of Electronic Publication: 2019 Oct 26.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat 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

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Authors: Ravenscroft G Pannell S O'Grady G et al.

Source: Neurogastroenterology and motility [Neurogastroenterol Motil] 2018 Sep; Vol. 30 (9), pp. e13371. Date of Electronic Publication: 2018 May 21.

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

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9432572 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2982 (Electronic) Linking ISSN: 13501925 NLM ISO Abbreviation: Neurogastroenterol Motil Subsets: MEDLINE

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Authors: Ewans LJ Minoche AE Schofield D et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Oct; Vol. 30 (10), pp. 1121-1131. Date of Electronic Publication: 2022 Aug 15.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.

Authors: Teekakirikul P Zhu W Xu X et al.

Source: Cell reports. Medicine [Cell Rep Med] 2022 Feb 15; Vol. 3 (2), pp. 100501. Date of Electronic Publication: 2022 Feb 15 (Print Publication: 2022).

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: 101766894 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Authors: Bournazos AM Riley LG Bommireddipalli S et al.

Corporate Authors: Bournazos AM Riley LG Bommireddipalli S et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 130-145. Date of Electronic Publication: 2021 Nov 30.

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

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Authors: Todd EJ Yau KS Ong R et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Nov 17; Vol. 10, pp. 148. Date of Electronic Publication: 2015 Nov 17.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Authors: Frazier AE Compton AG Kishita Y et al.

Source: Med (New York, N.Y.) [Med] 2021 Jan 15; Vol. 2 (1), pp. 49-73. Date of Electronic Publication: 2020 Jul 09.

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: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Authors: Van Scherpenzeel M Timal S Rymen D et al.

Source: Brain : a journal of neurology [Brain] 2014 Apr; Vol. 137 (Pt 4), pp. 1030-8. Date of Electronic Publication: 2014 Feb 24.

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-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Authors: Baker PR 2nd Friederich MW Swanson MA et al.

Source: Brain : a journal of neurology [Brain] 2014 Feb; Vol. 137 (Pt 2), pp. 366-79. Date of Electronic Publication: 2013 Dec 11.

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

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

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Authors: Roscioli T Elakis G Cox TC et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2013 Nov; Vol. 163C (4), pp. 259-70. Date of Electronic Publication: 2013 Oct 11.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

Authors: Miller KA Ah-Cann CJ Welfare MF et al.

Source: PLoS genetics [PLoS Genet] 2013 Aug; Vol. 9 (8), pp. e1003746. Date of Electronic Publication: 2013 Aug 29.

Publication Type: 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: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Azoospermia and paternal autosomal ring chromosomes: case report and literature review.

Authors: Rajesh H Freckmann ML Chapman M

Source: Reproductive biomedicine online [Reprod Biomed Online] 2011 Oct; Vol. 23 (4), pp. 466-70. Date of Electronic Publication: 2011 May 27.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6491 (Electronic) Linking ISSN: 14726483 NLM ISO Abbreviation: Reprod Biomed Online Subsets: MEDLINE

Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.

Authors: Chaudhari T Todd DA Kent AL et al.

Source: Journal of paediatrics and child health [J Paediatr Child Health] 2011 Jan; Vol. 47 (1-2), pp. 64-5.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Authors: Shieh C Jones N Vanle B et al.

Corporate Authors: Shieh C Jones N Vanle B et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 May; Vol. 22 (5), pp. 878-888. Date of Electronic Publication: 2020 Jan 17.

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