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Showing 13 to 24 of 110 entries
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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Clinical genetics

Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Bi W.
PMID: 33963760
Clin Genet. 2021 Aug;100(2):227-233. doi: 10.1111/cge.13979. Epub 2021 Jun 01.

PPP3CA encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. Loss-of-function (LoF) variants in the catalytic domain have been associated with epilepsy, while gain-of-function (GoF) variants in the auto-inhibitory domain cause multiple congenital abnormalities. We herein report five...

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

European journal of human genetics : EJHG

Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J.
PMID: 33398081
Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 04.

Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified for presumed autosomal recessive cases. Common synonymous variants...

Development and psychometric evaluation of the Test of Practical Judgment alternate form (Form B).

Applied neuropsychology. Adult

Guayara-Quinn CG, Paré N, Scott RL, Sepulveda CA, Katz MJ, Lipton RB, Schaefer LA, Saykin AJ, Rabin LA.
PMID: 34053378
Appl Neuropsychol Adult. 2021 May 30;1-10. doi: 10.1080/23279095.2021.1920413. Epub 2021 May 30.

The Test of Practical Judgment (TOP-J) is increasingly used by neuropsychologists to measure everyday judgment ability in older adulthood. In the present study, we developed an alternate TOP-J Form B, which may be used to reduce practice effects for...

Identifying relapses and stem cell transplants in pediatric acute lymphoblastic leukemia using administrative data: Capturing national outcomes irrespective of trial enrollment.

Pediatric blood & cancer

Cahen VC, Li Y, Getz KD, Elgarten CW, DiNofia AM, Wilkes JJ, Winestone LE, Huang YV, Miller TP, Gramatges MM, Rabin KR, Fisher BT, Aplenc R, Seif AE.
PMID: 32391940
Pediatr Blood Cancer. 2021 Sep;68(9):e28315. doi: 10.1002/pbc.28315. Epub 2020 May 11.

INTRODUCTION: Our objectives were to design and validate methods to identify relapse and hematopoietic stem cell transplantation (HSCT) in children with acute lymphoblastic leukemia (ALL) using administrative data representing hospitalizations at US pediatric institutions.METHODS: We developed daily billing and...

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

The Journal of clinical investigation

Li Y, Yang W, Devidas M, Winter SS, Kesserwan C, Yang W, Dunsmore KP, Smith C, Qian M, Zhao X, Zhang R, Gastier-Foster JM, Raetz EA, Carroll WL, Li C, Liu PP, Rabin KR, Sanda T, Mullighan CG, Nichols KE, Evans WE, Pui CH, Hunger SP, Teachey DT, Relling MV, Loh ML, Yang JJ.
PMID: 34166225
J Clin Invest. 2021 Jun 24; doi: 10.1172/JCI147898. Epub 2021 Jun 24.

Genetic alterations in the RUNX1 gene are associated with benign and malignant blood disorders, particularly of megakaryocyte and myeloid lineages. The role of RUNX1 in acute lymphoblastic leukemia (ALL) is less clear, particularly how germline genetic variation influences the...

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca.

Proceedings of the National Academy of Sciences of the United States of America

Halvorsen M, Gould L, Wang X, Grant G, Moya R, Rabin R, Ackerman MJ, Tester DJ, Lin PT, Pappas JG, Maurano MT, Goldstein DB, Tsien RW, Devinsky O.
PMID: 34930847
Proc Natl Acad Sci U S A. 2021 Dec 28;118(52). doi: 10.1073/pnas.2115140118.

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 "trios" (decedent child, living parents) was used to test for excessive de novo mutations (DNMs) in genes involved in cardiac arrhythmias, epilepsy, and other...

A Successful Dental Care Referral Program for Low-Income Pregnant Women in New York.

International journal of environmental research and public health

Russell SL, Kerpen SJ, Rabin JM, Burakoff RP, Yang C, Huang SS.
PMID: 34886450
Int J Environ Res Public Health. 2021 Dec 02;18(23). doi: 10.3390/ijerph182312724.

Despite evidence-based guidelines that advocate for dental care during pregnancy, dental utilization among pregnant women remains low, especially among low-income and racial-ethnic minority women. We investigated self-reported dental care referral and self-reported dental care attendance among a group of...

How Shared Is Shared Decision Making? Reaching the Full Potential of Patient-Clinician Collaboration in Mental Health.

Harvard review of psychiatry

Treichler EBH, Rabin BA, Cohen AN, Light GA.
PMID: 34352846
Harv Rev Psychiatry. 2021 Sep-Oct 01;29(5):361-369. doi: 10.1097/HRP.0000000000000304.

ABSTRACT: Shared decision making in mental health is a priority for stakeholders, but faces significant implementation barriers, particularly in settings intended to serve people with serious mental illnesses (SMI). As a result, current levels of shared decision making are...

Carpenter et al. respond.

American journal of public health

Carpenter CR, Neta G, Glasgow RE, Rabin BA, Brownson RC.
PMID: 25713956
Am J Public Health. 2015 Apr;105(4):e1-2. doi: 10.2105/AJPH.2015.302606. Epub 2015 Feb 25.

No abstract available.

Outcomes in adolescent and young adult patients (16 to 30 years) compared to younger patients treated for high-risk B-lymphoblastic leukemia: report from Children's Oncology Group Study AALL0232.

Leukemia

Burke MJ, Devidas M, Chen Z, Salzer WL, Raetz EA, Rabin KR, Heerema NA, Carroll AJ, Gastier-Foster JM, Borowitz MJ, Wood BL, Winick NJ, Carroll WL, Hunger SP, Loh ML, Larsen EC.
PMID: 34725453
Leukemia. 2021 Nov 01; doi: 10.1038/s41375-021-01460-6. Epub 2021 Nov 01.

Adolescent and young adult (AYA) patients 16-30 years old with high-risk acute lymphoblastic leukemia (HR-ALL) have inferior outcomes compared to younger HR-ALL patients. AALL0232 was a Phase 3 randomized Children's Oncology Group trial for newly diagnosed HR B-ALL (1-30...

Holding the lead pigment industry responsible for the national child lead poisoning problem.

New solutions : a journal of environmental and occupational health policy : NS

Rabin R.
PMID: 22909936
New Solut. 1996 Oct 01;7(1):4. doi: 10.2190/NS7.1.b.

No abstract available.

HEALTH AND ETHNIC MINORITIES IN THE SIXTIES.

American journal of public health and the nation's health

RABIN DL, BARNETT CR, ARNOLD WD, FREIBERGER RH, BROOKS G.
PMID: 14275467
Am J Public Health Nations Health. 1965 Apr;55:495-8.

No abstract available.

Showing 13 to 24 of 110 entries