Search Results - "Pollak RM"

Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.

Authors: Pollak RM Sefik E Klaiman C et al.

Source: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2026 Jul; Vol. 70 (7), pp. 758-768. Date of Electronic Publication: 2026 May 06.

Publication Type: Journal Article; Validation Study

Journal Info: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

Female iPSC X-chromosome inactivation (XCI) erosion and its transcriptomic effects during CRISPR gene editing and neural differentiation.

Authors: Thapa C Oh EK Sirkin D et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Mar 01. Date of Electronic Publication: 2026 Mar 01.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.

Authors: Pollak RM Mortillo M Murphy MM et al.

Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2025 Feb; Vol. 55 (2), pp. 667-677. Date of Electronic Publication: 2024 Jan 12.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.

Authors: Pollak RM Burrell TL Cubells JF et al.

Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Aug; Vol. 54 (8), pp. 3142-3154. Date of Electronic Publication: 2023 Jun 24.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Copy Number Variants: Deletion and Duplication Syndromes.

Authors: Harner MK Bishop DV Pollak RM et al.

Source: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2025 Aug; Vol. 26 (1), pp. 261-277. Date of Electronic Publication: 2025 Apr 25.

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

Journal Info: Publisher: Annual Reviews Country of Publication: United States NLM ID: 100911346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-293X (Electronic) Linking ISSN: 15278204 NLM ISO Abbreviation: Annu Rev Genomics Hum Genet Subsets: MEDLINE

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.

Authors: Pollak RM Burrell TL Cubells JF et al.

Source: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2024 Feb; Vol. 68 (2), pp. 113-127. Date of Electronic Publication: 2023 Sep 22.

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

Journal Info: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

Musculoskeletal phenotypes in 3q29 deletion syndrome.

Authors: Pollak RM Tilmon JC Murphy MM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Nov; Vol. 191 (11), pp. 2749-2756. Date of Electronic Publication: 2023 Sep 10.

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

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

Comparison of autism domains across thirty rare variant genotypes.

Authors: Ali NMH Chawner SJRA Kushan-Wells L et al.

Corporate Authors: Ali NMH Chawner SJRA Kushan-Wells L et al.

Source: EBioMedicine [EBioMedicine] 2025 Feb; Vol. 112, pp. 105521. Date of Electronic Publication: 2025 Jan 31.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Metabolic effects of the schizophrenia-associated 3q29 deletion.

Authors: Pollak RM Purcell RH Rutkowski TP et al.

Source: Translational psychiatry [Transl Psychiatry] 2022 Feb 17; Vol. 12 (1), pp. 66. Date of Electronic Publication: 2022 Feb 17.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.

Authors: Pollak RM Sefik E Aberizk K et al.

Source: Psychological medicine [Psychol Med] 2024 Oct; Vol. 54 (14), pp. 3876-3887. Date of Electronic Publication: 2024 Oct 04.

Publication Type: Journal Article

Journal Info: Publisher: Cambridge University Press Country of Publication: England NLM ID: 1254142 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8978 (Electronic) Linking ISSN: 00332917 NLM ISO Abbreviation: Psychol Med Subsets: MEDLINE; PubMed not MEDLINE

Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice.

Authors: Osman A Mervosh NL Strat AN et al.

Source: Brain, behavior, and immunity [Brain Behav Immun] 2023 Nov; Vol. 114, pp. 311-324. Date of Electronic Publication: 2023 Aug 30.

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

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8800478 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2139 (Electronic) Linking ISSN: 08891591 NLM ISO Abbreviation: Brain Behav Immun Subsets: MEDLINE

New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.

Authors: Pollak RM Zinsmeister MC Murphy MM et al.

Corporate Authors: Pollak RM Zinsmeister MC Murphy MM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1152-1166. Date of Electronic Publication: 2020 Mar 10.

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

Adaptive behavior deficits in individuals with 3q29 deletion syndrome.

Authors: Pollak RM Burrell TL Cubells JF et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Apr 03. Date of Electronic Publication: 2023 Apr 03.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Musculoskeletal phenotypes in 3q29 deletion syndrome.

Authors: Pollak RM Tilmon JC Murphy MM et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Apr 03. Date of Electronic Publication: 2023 Apr 03.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.

Authors: Pollak RM Pincus JE Burrell TL et al.

Source: Molecular autism [Mol Autism] 2022 Dec 24; Vol. 13 (1), pp. 50. Date of Electronic Publication: 2022 Dec 24.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: Electronic Cited Medium: Internet ISSN: 2040-2392 (Electronic) NLM ISO Abbreviation: Mol Autism Subsets: MEDLINE

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.

Authors: Breen MS Fan X Levy T et al.

Corporate Authors: Breen MS Fan X Levy T et al.

Source: HGG advances [HGG Adv] 2022 Sep 26; Vol. 4 (1), pp. 100145. Date of Electronic Publication: 2022 Sep 26 (Print Publication: 2023).

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

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv

Symptoms of Pediatric Feeding Disorders Among Individuals with 3q29 Deletion Syndrome: A Case-Control Study.

Authors: Wawrzonek AJ Sharp W Burrell TL et al.

Corporate Authors: Wawrzonek AJ Sharp W Burrell TL et al.

Source: Journal of developmental and behavioral pediatrics : JDBP [J Dev Behav Pediatr] 2022 Apr 01; Vol. 43 (3), pp. e170-e178. Date of Electronic Publication: 2021 Oct 11.

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

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8006933 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-7312 (Electronic) Linking ISSN: 0196206X NLM ISO Abbreviation: J Dev Behav Pediatr Subsets: MEDLINE

Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.

Authors: Rutkowski TP Purcell RH Pollak RM et al.

Source: Molecular psychiatry [Mol Psychiatry] 2021 Mar; Vol. 26 (3), pp. 772-783. Date of Electronic Publication: 2019 Apr 11.

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

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.

Authors: Pollak RM Murphy MM Epstein MP et al.

Corporate Authors: Pollak RM Murphy MM Epstein MP et al.

Source: Molecular autism [Mol Autism] 2019 Jul 16; Vol. 10, pp. 30. Date of Electronic Publication: 2019 Jul 16 (Print Publication: 2019).

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: eCollection Cited Medium: Internet ISSN: 2040-2392 (Electronic) NLM ISO Abbreviation: Mol Autism Subsets: MEDLINE