Publications by authors named "Christian P Schaaf"

88Publications

Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome.

Pediatr Pulmonol 2020 Sep 5. Epub 2020 Sep 5.

Division of Pulmonary and Sleep Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/ppul.25056DOI Listing
September 2020

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.

Sci Rep 2019 11 4;9(1):15935. Epub 2019 Nov 4.

Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1038/s41598-019-52287-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828689PMC
November 2019

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Birth Defects Res 2019 11 16;111(18):1356-1364. Epub 2019 Jul 16.

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas.

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http://dx.doi.org/10.1002/bdr2.1549DOI Listing
November 2019

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.

Mol Cell Probes 2019 06 23;45:84-88. Epub 2019 Mar 23.

Institute of Human Genetics, University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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http://dx.doi.org/10.1016/j.mcp.2019.03.006DOI Listing
June 2019

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.

J Autism Dev Disord 2020 Jul;50(7):2491-2500

Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/s10803-018-3775-7DOI Listing
July 2020

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders.

J Affect Disord 2018 10 11;239:247-252. Epub 2018 Jul 11.

Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jad.2018.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6273479PMC
October 2018

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

J Hum Genet 2018 Jul 24;63(7):795-801. Epub 2018 Apr 24.

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

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http://dx.doi.org/10.1038/s10038-018-0451-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019170PMC
July 2018

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.

Eur J Med Genet 2018 Oct 13;61(10):627-630. Epub 2018 Apr 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1016/j.ejmg.2018.04.007DOI Listing
October 2018

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

J Med Genet 2018 05 1;55(5):307-315. Epub 2018 Mar 1.

Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA.

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http://dx.doi.org/10.1136/jmedgenet-2017-105024DOI Listing
May 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

J Hum Genet 2018 Apr 6;63(4):525-528. Epub 2018 Feb 6.

Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041, Madrid, Spain.

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http://dx.doi.org/10.1038/s10038-017-0398-3DOI Listing
April 2018

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.

Am J Hum Genet 2018 02;102(2):296-308

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985472PMC
February 2018

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.

Am J Hum Genet 2017 Dec 9;101(6):874-887. Epub 2017 Nov 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Neurological Research Institute, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173039
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http://dx.doi.org/10.1016/j.ajhg.2017.09.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812918PMC
December 2017

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.

J Child Adolesc Psychopharmacol 2017 Dec 17;27(10):908-915. Epub 2017 Aug 17.

5 Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine , Houston, Texas.

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http://dx.doi.org/10.1089/cap.2017.0068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725633PMC
December 2017

The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.

Am J Med Genet A 2017 Sep 20;173(9):2485-2488. Epub 2017 Jun 20.

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

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http://dx.doi.org/10.1002/ajmg.a.38328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240332PMC
September 2017

Genetic causes of optic nerve hypoplasia.

J Med Genet 2017 07 13;54(7):441-449. Epub 2017 May 13.

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

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http://dx.doi.org/10.1136/jmedgenet-2017-104626DOI Listing
July 2017

Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.

Sci Rep 2017 01 3;7:39941. Epub 2017 Jan 3.

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

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http://dx.doi.org/10.1038/srep39941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206704PMC
January 2017

Imprinting: the Achilles heel of trio-based exome sequencing.

Genet Med 2016 11 15;18(11):1163-1164. Epub 2016 Sep 15.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.128DOI Listing
November 2016

Autism genetics - an overview.

Prenat Diagn 2017 Jan 10;37(1):14-30. Epub 2016 Nov 10.

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

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http://dx.doi.org/10.1002/pd.4942DOI Listing
January 2017

Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.

J Autism Dev Disord 2016 Apr;46(4):1455-63

Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/s10803-015-2694-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362964PMC
April 2016

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the Gene.

Diseases 2016 Jan 13;4(1). Epub 2016 Jan 13.

Interdepartmental Program in Translational Biology and Molecular Medicine, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.3390/diseases4010002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456300PMC
January 2016

Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation".

Am J Med Genet A 2015 Oct 10;167A(10):2496. Epub 2015 Jun 10.

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

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http://dx.doi.org/10.1002/ajmg.a.37192DOI Listing
October 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

The human clinical phenotypes of altered CHRNA7 copy number.

Biochem Pharmacol 2015 Oct 18;97(4):352-362. Epub 2015 Jun 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.bcp.2015.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600432PMC
October 2015

MAGEL2 and Oxytocin-Implications in Prader-Willi Syndrome and Beyond.

Biol Psychiatry 2015 Jul;78(2):78-80

Translational Biology and Molecular Medicine, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2015.05.006DOI Listing
July 2015

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Am J Med Genet A 2015 Sep 5;167A(9):2162-7. Epub 2015 May 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37144DOI Listing
September 2015

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

BMC Med Genet 2015 Mar 14;16:12. Epub 2015 Mar 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS NAB 2015, Houston, TX, 77030, U.S.A.

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http://dx.doi.org/10.1186/s12881-015-0157-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422130PMC
March 2015

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Mov Disord 2014 Apr 7;29(4):574-5. Epub 2014 Mar 7.

Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/mds.25868DOI Listing
April 2014

Nicotinic acetylcholine receptors in human genetic disease.

Genet Med 2014 Sep 20;16(9):649-56. Epub 2014 Feb 20.

1] Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, Texas, USA [2] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.

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http://www.nature.com/articles/gim20149
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http://dx.doi.org/10.1038/gim.2014.9DOI Listing
September 2014

NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet 2014 Feb 23;94(2):303-9. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135413PMC
September 2014

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.

Nature 2013 Nov 23;503(7474):72-7. Epub 2013 Oct 23.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA [2] Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA [3] Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nature12630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923348PMC
November 2013

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Nat Genet 2013 Nov 29;45(11):1405-8. Epub 2013 Sep 29.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA. [3].

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http://www.nature.com/articles/ng.2776
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http://dx.doi.org/10.1038/ng.2776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819162PMC
November 2013

The genetics of Autism Spectrum Disorders--a guide for clinicians.

Curr Psychiatry Rep 2013 Jan;15(1):334

Faculty of Medicine, University of Heidelberg, Im Neuenheimer Feld 134b, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1007/s11920-012-0334-3DOI Listing
January 2013

Copy number and SNP arrays in clinical diagnostics.

Annu Rev Genomics Hum Genet 2011 ;12:25-51

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://www.annualreviews.org/doi/10.1146/annurev-genom-09201
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http://dx.doi.org/10.1146/annurev-genom-092010-110715DOI Listing
October 2011

Solving the autism puzzle a few pieces at a time.

Neuron 2011 Jun;70(5):806-8

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

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https://linkinghub.elsevier.com/retrieve/pii/S08966273110044
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http://dx.doi.org/10.1016/j.neuron.2011.05.025DOI Listing
June 2011

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Mol Genet Metab 2011 Aug 7;103(4):383-7. Epub 2011 May 7.

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

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100135
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http://dx.doi.org/10.1016/j.ymgme.2011.04.018DOI Listing
August 2011

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Hum Mol Genet 2011 Sep 30;20(17):3366-75. Epub 2011 May 30.

Department of Molecular and Human Genetics, Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddr243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153303PMC
September 2011

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Am J Med Genet A 2011 Jun 12;155A(6):1465-8. Epub 2011 May 12.

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

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http://dx.doi.org/10.1002/ajmg.a.33935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651890PMC
June 2011

Hans Gunther and his disease.

Photodermatol Photoimmunol Photomed 2007 Dec;23(6):261-3

Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1111/j.1600-0781.2007.00323.xDOI Listing
December 2007

Novel interaction partners of the TPR/MET tyrosine kinase.

FASEB J 2005 Feb 16;19(2):267-9. Epub 2004 Nov 16.

Institute of Human Genetics, University Clinics of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1096/fj.04-1558fjeDOI Listing
February 2005