Haley Streff

Haley Streff

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Haley Streff

Haley Streff

Publications by authors named "Haley Streff"

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 Jan 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
January 2020

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.

Eur J Hum Genet 2019 Dec 5. Epub 2019 Dec 5.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41431-019-0552-9DOI Listing
December 2019

brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.

Neurol Genet 2019 Dec 30;5(6):e366. Epub 2019 Oct 30.

Baylor College of Medicine (J.M.S., S.C.M.), Houston, TX; Texas Children's Hospital (L.Z.R., H.S., G.L., V.R., J.V.H., D.J.C., F.S., A.M.A., I.A., L.C.B., D.M.); Department of Molecular and Human Genetics (L.Z.R., H.S., H.D., F.S., L.C.B., D.M.), Baylor College of Medicine, Houston, TX; Department of Pediatrics (P.B.), Northwell Health, Division of Human Genetics and Genomics, Great Neck, NY; Department of Pathology and Immunology (Y.-S.L.), Washington University School of Medicine, St. Louis, MO; Genetics and Genomic Medicine (S.P., V.K.), UCL GOS Institute of Child Health; Pediatric Dermatology (S.P., V.K.), Great Ormond Street Hospital for Children, London, UK; Department of Dermatology (G.L., V.R.), Department of Radiology (J.V.H.), and Department of Neurosurgery (D.J.C.), Baylor College of Medicine, Houston, TX; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, Hong Kong SAR; Department of Pathology and Immunology (A.M.A), Department of Pediatrics (I.A.), and Department of Neurology (I.A.), Baylor College of Medicine, Houston, TX; and Department of Pediatrics (D.M.), Faculty of Medicine, Kuwait University, Safat, Kuwait.

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http://dx.doi.org/10.1212/NXG.0000000000000366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878837PMC
December 2019

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.

Eur J Med Genet 2019 Nov 3;62(11):103567. Epub 2018 Nov 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183020
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http://dx.doi.org/10.1016/j.ejmg.2018.11.001DOI Listing
November 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma.

Cleft Palate Craniofac J 2019 Jul 25;56(6):823-826. Epub 2018 Dec 25.

1 Division of Plastic Surgery, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1177/1055665618820481DOI Listing
July 2019

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.

Am J Med Genet A 2018 07 9;176(7):1667-1669. Epub 2018 May 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38835DOI Listing
July 2018

Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers.

Oncologist 2016 07 15;21(7):869-74. Epub 2016 Jun 15.

Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA

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http://dx.doi.org/10.1634/theoncologist.2015-0354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943383PMC
July 2016