Publications Authored by Haley Streff

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.23929	DOI Listing

January 2020

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

Authors:

Federico Tessadori Atteeq U Rehman Jacques C Giltay Fan Xia Haley Streff Karen Duran Jeroen Bakkers Seema R Lalani Gijs van Haaften

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/s41431-019-0552-9	DOI Listing

December 2019

brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.

Authors:

Joseph M Sliepka Sarah C McGriff Linda Z Rossetti Peyman Bizargity Haley Streff Yi-Shan Lee Hongzheng Dai Satyamaanasa Polubothu Grace Lee Vicky Ren Jill V Hunter Daniel J Curry Fernando Scaglia Adekunle M Adesina Irfan Ali Veronica Kinsler Lindsay C Burrage Dana Marafi

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.0000000000000366	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878837	PMC

December 2019

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

Authors:

Haley Streff Weimin Bi Athos G Colón Adekunle M Adesina Christina Y Miyake Seema R Lalani

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	Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.11.001	DOI Listing

November 2019

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

Authors:

Nishitha R Pillai Noura S AlDhaheri Rajarshi Ghosh Jaehyung Lim Haley Streff Anuranjita Nayak Brett H Graham Neil A Hanchard Sarah H Elsea Fernando Scaglia

Am J Med Genet A 2019 Oct 10;179(10):2138-2143. Epub 2019 Jul 10.

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

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http://dx.doi.org/10.1002/ajmg.a.61288	DOI Listing

October 2019

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

Authors:

Elisabetta Flex Simone Martinelli Anke Van Dijck Andrea Ciolfi Serena Cecchetti Elisa Coluzzi Luca Pannone Cristina Andreoli Francesca Clementina Radio Simone Pizzi Giovanna Carpentieri Alessandro Bruselles Giuseppina Catanzaro Lucia Pedace Evelina Miele Elena Carcarino Xiaoyan Ge Chieko Chijiwa M E Suzanne Lewis Marije Meuwissen Sandra Kenis Nathalie Van der Aa Austin Larson Kathleen Brown Melissa P Wasserstein Brian G Skotko Amber Begtrup Richard Person Maria Karayiorgou J Louw Roos Koen L Van Gassen Marije Koopmans Emilia K Bijlsma Gijs W E Santen Daniela Q C M Barge-Schaapveld Claudia A L Ruivenkamp Mariette J V Hoffer Seema R Lalani Haley Streff William J Craigen Brett H Graham Annette P M van den Elzen Daan J Kamphuis Katrin Õunap Karit Reinson Sander Pajusalu Monica H Wojcik Clara Viberti Cornelia Di Gaetano Enrico Bertini Simona Petrucci Alessandro De Luca Rossella Rota Elisabetta Ferretti Giuseppe Matullo Bruno Dallapiccola Antonella Sgura Magdalena Walkiewicz R Frank Kooy Marco Tartaglia

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.2019.07.007	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364	PMC

September 2019

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

Authors:

Kelly P Schultz Claire J Wiggins Haley Streff Veeral S Shah Edward P Buchanan

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/10.1177/1055665618820481	DOI Listing

July 2019

Reanalysis of Clinical Exome Sequencing Data.

N Engl J Med 2019 06;380(25):2478-2480

Baylor College of Medicine, Houston, TX

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http://dx.doi.org/10.1056/NEJMc1812033	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934160	PMC

June 2019

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

Authors:

Andrea Klunder Petersen Haley Streff Mari Tokita Bret L Bostwick

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.38835	DOI Listing

July 2018

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Hum Genet 2018 May 8;137(5):375-388. Epub 2018 May 8.

HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.

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http://dx.doi.org/10.1007/s00439-018-1887-y	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973976	PMC

May 2018

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Am J Hum Genet 2017 Oct 21;101(4):503-515. Epub 2017 Sep 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address:

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