Search Results - "Michaud JL"

The developmental program of the hypothalamus and its disorders.

Authors: Michaud, JL

Source: Clinical Genetics. Oct2001, Vol. 60 Issue 4, p255-263. 9p. 4 Diagrams.

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

Authors: D'Amours, G Kibar, Z Mathonnet, G et al.

Source: Clinical Genetics. Feb2012, Vol. 81 Issue 2, p128-141. 14p. 1 Diagram, 3 Charts, 1 Graph.

Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex.

Authors: Francavilla R Chattopadhyaya B Damo Kamda JL et al.

Source: ELife [Elife] 2025 Aug 14; Vol. 13. Date of Electronic Publication: 2025 Aug 14.

Publication Type: Journal Article

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Developmental Syngap1 Haploinsufficiency in Medial Ganglionic Eminence-Derived Interneurons Impairs Auditory Cortex Activity, Social Behavior, and Extinction of Fear Memory.

Authors: Jadhav V Carreno-Munoz MI Chehrazi P et al.

Source: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2024 Dec 04; Vol. 44 (49). Date of Electronic Publication: 2024 Dec 04.

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

Journal Info: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Authors: Uguen K Frey T Muthaffar O et al.

Source: Brain communications [Brain Commun] 2024 Nov 16; Vol. 6 (6), pp. fcae408. Date of Electronic Publication: 2024 Nov 16 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

Authors: Xu H Liu Z Hamdan FF et al.

Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100542. Date of Electronic Publication: 2025 Nov 04.

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

Cost analysis of hospitalized children suspected of rare genetic diseases.

Authors: Kouame JM LaRue S Varin-Tremblay C et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jan 13; Vol. 21 (1), pp. 49. Date of Electronic Publication: 2026 Jan 13.

Publication Type: Journal Article

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

The evolution of health data ecosystems: An international survey.

Authors: Lerner-Ellis JP Price EM Subhani S et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Aug 07; Vol. 112 (8), pp. 1769-1777. Date of Electronic Publication: 2025 Jul 21.

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-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Unraveling the role of non-coding rare variants in epilepsy.

Authors: Girard A Moreau C Michaud JL et al.

Source: PloS one [PLoS One] 2023 Sep 27; Vol. 18 (9), pp. e0291935. Date of Electronic Publication: 2023 Sep 27 (Print Publication: 2023).

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: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.

Authors: Khlaifia A Jadhav V Danik M et al.

Source: ENeuro [eNeuro] 2023 May 05; Vol. 10 (5). Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).

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

Journal Info: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 101647362 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2822 (Electronic) Linking ISSN: 23732822 NLM ISO Abbreviation: eNeuro Subsets: MEDLINE

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Authors: Gong M Li J Qin Z et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2392-2410. Date of Electronic Publication: 2024 Oct 16.

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

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Authors: Borroto MC Patel H Srivastava S et al.

Corporate Authors: Borroto MC Patel H Srivastava S et al.

Source: Pediatric neurology [Pediatr Neurol] 2024 Nov; Vol. 160, pp. 45-53. Date of Electronic Publication: 2024 Jul 20.

Publication Type: Journal Article

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

Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency.

Authors: Carreño-Muñoz MI Chattopadhyaya B Agbogba K et al.

Source: Brain : a journal of neurology [Brain] 2022 Apr 18; Vol. 145 (2), pp. 754-769.

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

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Authors: Kreienkamp HJ Wagner M Weigand H et al.

Source: Human genetics [Hum Genet] 2022 Feb; Vol. 141 (2), pp. 257-272. Date of Electronic Publication: 2021 Dec 14.

Publication Type: Case Reports; Journal Article; Twin Study

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Authors: Uguen K Michaud JL Génin E

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1037-1044. Date of Electronic Publication: 2024 Jul 10.

Publication Type: Journal Article; Review

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

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Authors: Fehlings DL Zarrei M Engchuan W et al.

Source: Nature genetics [Nat Genet] 2024 Apr; Vol. 56 (4), pp. 585-594. Date of Electronic Publication: 2024 Mar 29.

Publication Type: Journal Article

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

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Authors: Schneider AL Myers CT Muir AM et al.

Source: Epilepsia [Epilepsia] 2021 Jan; Vol. 62 (1), pp. e13-e21. Date of Electronic Publication: 2020 Dec 06.

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

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Authors: Caron V Chassaing N Ragge N et al.

Corporate Authors: Caron V Chassaing N Ragge N et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100856. Date of Electronic Publication: 2023 Apr 20.

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

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.

Authors: Szafranski P Liu Q Karolak JA et al.

Source: Human genetics [Hum Genet] 2019 Dec; Vol. 138 (11-12), pp. 1301-1311. Date of Electronic Publication: 2019 Nov 04.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.

Authors: Bouasker S Patel N Greenlees R et al.

Source: Journal of medical genetics [J Med Genet] 2023 Mar; Vol. 60 (3), pp. 294-300. Date of Electronic Publication: 2022 Jul 05.

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