Search Results - "Farach LS"

P.22 - Case report: Newborn screening and intermediate maple syrup urine disease in siblings.

Authors: Roberts, PL Rodriugez-Buritica, DF Kacpura, AO et al.

Source: Molecular Genetics & Metabolism. 2022 Supplement 1, Vol. 136, pS18-S18. 1p.

Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.

Authors: Crain C Northrup H Farach LS et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun 12. Date of Electronic Publication: 2026 Jun 12.

Publication Type: Case Reports; 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

Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study.

Authors: McPherson TO Bebin EM Farach LS et al.

Corporate Authors: McPherson TO Bebin EM Farach LS et al.

Source: Pediatric neurology [Pediatr Neurol] 2026 Jun; Vol. 179, pp. 30-36. Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article; Randomized Controlled Trial

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

Exome sequencing identifies additional pathogenic variants in neurodevelopmental genes in 3.6% of individuals with tuberous sclerosis complex.

Authors: Farach LS Leu C Lal D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr 15; Vol. 28 (6), pp. 102582. Date of Electronic Publication: 2026 Apr 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

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

Authors: Richard MA Lupo PJ Ehli EA et al.

Corporate Authors: Richard MA Lupo PJ Ehli EA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63569. Date of Electronic Publication: 2024 Feb 17.

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

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Authors: van Oirsouw ASE Hadders MA Koetsier M et al.

Source: Human molecular genetics [Hum Mol Genet] 2025 Aug 16; Vol. 34 (16), pp. 1353-1367.

Publication Type: Journal Article

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

Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin.

Authors: Mills SL Roberts P Ashfaq M et al.

Source: JIMD reports [JIMD Rep] 2023 Oct 21; Vol. 64 (6), pp. 434-439. Date of Electronic Publication: 2023 Oct 21 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.

Authors: West HD Nellist M Brouwer RWW et al.

Source: Human mutation [Hum Mutat] 2023 Jul 13; Vol. 2023, pp. 4899372. Date of Electronic Publication: 2023 Jul 13 (Print Publication: 2023).

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: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Parenting Stress in Tuberous Sclerosis Complex.

Authors: Do J Hashmi S Northrup H et al.

Source: Pediatric neurology [Pediatr Neurol] 2025 Mar; Vol. 164, pp. 25-34. Date of Electronic Publication: 2024 Dec 21.

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

Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy.

Authors: Johnson AQ Bannon SA Farach LS et al.

Source: European journal of haematology [Eur J Haematol] 2023 Jan; Vol. 110 (1), pp. 109-116. Date of Electronic Publication: 2022 Oct 21.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 8703985 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0609 (Electronic) Linking ISSN: 09024441 NLM ISO Abbreviation: Eur J Haematol Subsets: MEDLINE

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism.

Authors: Langley E Farach LS Mowrey K

Source: Frontiers in genetics [Front Genet] 2022 Nov 09; Vol. 13, pp. 1044660. Date of Electronic Publication: 2022 Nov 09 (Print Publication: 2022).

Publication Type: Case Reports; 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

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.

Authors: Farach LS Richard MA Wulsin AC et al.

Corporate Authors: Farach LS Richard MA Wulsin AC et al.

Source: Pediatric neurology [Pediatr Neurol] 2024 Oct; Vol. 159, pp. 62-71. Date of Electronic Publication: 2024 Jul 04.

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

NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.

Authors: Langley E Farach LS Koenig MK et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1688-1692. Date of Electronic Publication: 2022 Feb 10.

Publication Type: 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

Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model.

Authors: Nunley PB Hashmi SS Johnson A et al.

Source: Prenatal diagnosis [Prenat Diagn] 2021 Feb; Vol. 41 (3), pp. 354-361. Date of Electronic Publication: 2020 Nov 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.

Authors: Baskin SM Morris SA Vara A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Nov; Vol. 182 (11), pp. 2755-2760. Date of Electronic Publication: 2020 Sep 15.

Publication Type: Case Reports; Research Support, N.I.H., Extramural; 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

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.

Authors: Farach LS Northrup H Nellist M et al.

Source: Gene [Gene] 2023 Aug 15; Vol. 877, pp. 147566. Date of Electronic Publication: 2023 Jun 11.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.

Authors: Wagner VF Hillman PR Britt AD et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 May; Vol. 179 (5), pp. 852-856. Date of Electronic Publication: 2019 Feb 25.

Publication Type: Case Reports; 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

Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.

Authors: Wofford S Noblin S Davis JM et al.

Source: Journal of child neurology [J Child Neurol] 2019 Mar; Vol. 34 (4), pp. 177-183. Date of Electronic Publication: 2019 Jan 04.

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

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Massive macroglossia, a rare side effect of COVID-19: clinical, histologic, and genomic findings in COVID-19-positive versus COVID-19-negative patients.

Authors: Mañón VA Chubb D Farach LS et al.

Source: Oral and maxillofacial surgery [Oral Maxillofac Surg] 2022 Dec; Vol. 26 (4), pp. 613-618. Date of Electronic Publication: 2022 Jan 03.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101319632 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-1569 (Electronic) Linking ISSN: 18651550 NLM ISO Abbreviation: Oral Maxillofac Surg Subsets: MEDLINE

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Authors: Farach LS Little ME Duker AL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Feb; Vol. 176 (2), pp. 465-469. Date of Electronic Publication: 2017 Dec 19.

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