Search Results - "Kay DM"

Later onset phenotypes of krabbe disease: results of the world-wide registry.

Authors: Duffner PK Barczykowski A Kay DM et al.

Source: Pediatric Neurology. May2012, Vol. 46 Issue 5, p298-306. 9p.

Early infantile krabbe disease: results of the world-wide krabbe registry.

Authors: Duffner PK Barczykowski A Jalal K et al.

Source: Pediatric Neurology. Sep2011, Vol. 45 Issue 3, p141-148. 8p.

Universal Newborn Screening for Congenital Cytomegalovirus Using Dried Blood Spot Specimens.

Authors: Tavakoli NP Sack V Handel AS et al.

Source: JAMA network open [JAMA Netw Open] 2026 Jan 02; Vol. 9 (1), pp. e2554518. Date of Electronic Publication: 2026 Jan 02.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Gut microbiota depletion alters functional recovery and bone healing following fracture in mice.

Authors: Kooima P Oesterle DA Hematti Y et al.

Source: Bone [Bone] 2026 Aug; Vol. 209, pp. 117907. Date of Electronic Publication: 2026 Apr 25.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience.

Authors: Langfelder-Schwind E Kay DM Berdella M et al.

Corporate Authors: Langfelder-Schwind E Kay DM Berdella M et al.

Source: Pediatric pulmonology [Pediatr Pulmonol] 2026 May; Vol. 61 (5), pp. e71650.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE; In Process

Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.

Authors: Carter TC Kay DM Pangilinan F et al.

Corporate Authors: Carter TC Kay DM Pangilinan F et al.

Source: Birth defects research [Birth Defects Res] 2025 May; Vol. 117 (5), pp. e2472.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

Authors: Ziegler A Koval-Burt C Kay DM et al.

Source: JAMA [JAMA] 2025 Jan 21; Vol. 333 (3), pp. 232-240.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Authors: Blue EE Moore KJ North KE et al.

Corporate Authors: Blue EE Moore KJ North KE et al.

Source: Birth defects research [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2384.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.

Authors: Kay DM Sadeghi H Kier C et al.

Corporate Authors: Kay DM Sadeghi H Kier C et al.

Source: Pediatric pulmonology [Pediatr Pulmonol] 2024 Jul; Vol. 59 (7), pp. 1952-1961. Date of Electronic Publication: 2024 May 02.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

Variability in evaluation and follow-up of newborns with CRMS/CFSPID in New York State.

Authors: Kier C Kay DM Langfelder-Schwind E et al.

Corporate Authors: Kier C Kay DM Langfelder-Schwind E et al.

Source: Pediatric pulmonology [Pediatr Pulmonol] 2024 May; Vol. 59 (5), pp. 1511-1513. Date of Electronic Publication: 2024 Mar 01.

Publication Type: Letter

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

Longitudinal analysis of passively and actively acquired SARS-CoV-2 antibodies in infants with repeat newborn screening samples.

Authors: Damjanovic AK Keyel A Rock JM et al.

Source: Scientific reports [Sci Rep] 2025 Jul 04; Vol. 15 (1), pp. 23881. Date of Electronic Publication: 2025 Jul 04.

Publication Type: Journal Article

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

Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.

Authors: Sok P Sabo A Almli LM et al.

Corporate Authors: Sok P Sabo A Almli LM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1546-1556. Date of Electronic Publication: 2023 Mar 21.

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

Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State.

Authors: Sadeghi H Kay DM Langfelder-Schwind E et al.

Corporate Authors: Sadeghi H Kay DM Langfelder-Schwind E et al.

Source: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2025 Mar; Vol. 24 (2), pp. 404-411. Date of Electronic Publication: 2024 Nov 12.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128966 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5010 (Electronic) Linking ISSN: 15691993 NLM ISO Abbreviation: J Cyst Fibros Subsets: MEDLINE

Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.

Authors: Silva TS Faucz FR Hernández-Ramírez LC et al.

Source: Journal of the Endocrine Society [J Endocr Soc] 2022 Aug 11; Vol. 6 (10), pp. bvac116. Date of Electronic Publication: 2022 Aug 11 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Endocrine Society Country of Publication: United States NLM ID: 101697997 Publication Model: eCollection Cited Medium: Internet ISSN: 2472-1972 (Electronic) Linking ISSN: 24721972 NLM ISO Abbreviation: J Endocr Soc Subsets: PubMed not MEDLINE

Utility of Newborn Dried Blood Spots to Ascertain Seroprevalence of SARS-CoV-2 Antibodies Among Individuals Giving Birth in New York State, November 2019 to November 2021.

Authors: Damjanovic A Styer LM Nemeth K et al.

Source: JAMA network open [JAMA Netw Open] 2022 Aug 01; Vol. 5 (8), pp. e2227995. Date of Electronic Publication: 2022 Aug 01.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

Authors: Pangilinan F Watkins D Bernard D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1124-1141. Date of Electronic Publication: 2022 Feb 02.

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

Exome sequencing identifies variants in infants with sacral agenesis.

Authors: Pitsava G Feldkamp ML Pankratz N et al.

Corporate Authors: Pitsava G Feldkamp ML Pankratz N et al.

Source: Birth defects research [Birth Defects Res] 2022 Apr; Vol. 114 (7), pp. 215-227. Date of Electronic Publication: 2022 Mar 10.

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

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.

Authors: Pitsava G Feldkamp ML Pankratz N et al.

Corporate Authors: Pitsava G Feldkamp ML Pankratz N et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Oct; Vol. 185 (10), pp. 3028-3041. Date of Electronic Publication: 2021 Aug 05.

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

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

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Authors: Martínez de LaPiscina I Hernández-Ramírez LC Portillo N et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Jul 03; Vol. 11, pp. 433. Date of Electronic Publication: 2020 Jul 03 (Print Publication: 2020).

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

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

Authors: Jenkins MM Almli LM Pangilinan F et al.

Corporate Authors: Jenkins MM Almli LM Pangilinan F et al.

Source: Birth defects research [Birth Defects Res] 2019 Dec 01; Vol. 111 (20), pp. 1618-1632. Date of Electronic Publication: 2019 Jul 21.

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

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE