C. Schaaf

C. Schaaf, V. Gross‐Tsur, Y. Pollak, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

E. Grigorenko, D. Muzny, H. Doddapaneni, 2020, Genes.

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

C. Schaaf, Jiani C Yin, A. Bajić, 2017, American journal of human genetics.

Mutations in ASH1L confer susceptibility to Tourette syndrome

F. Yu, Jinchuan Xing, C. Schaaf, 2019, Molecular Psychiatry.

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

O. Lichtarge, H. Waterham, M. Shinawi, 2011, American journal of medical genetics. Part A.

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

P. Stankiewicz, J. Lupski, S. Cheung, 2014, European Journal of Human Genetics.

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

C. Schaaf, Jiani C Yin, Jennifer L Miller, 2018, Journal of Medical Genetics.

Birth defect co-occurrence patterns in the Texas Birth Defects Registry

Renata H Benjamin, C. Schaaf, A. Scheuerle, 2021, Pediatric Research.

Patterns of co-occurring birth defects among infants with hypospadias.

Renata H Benjamin, A J Agopian, C. Schaaf, 2020, Journal of pediatric urology.

Solving the Autism Puzzle a Few Pieces at a Time

H. Zoghbi, C. Schaaf, 2011, Neuron.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

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

A. Bayat, C. Schaaf, M. Bayat, 2018, European journal of medical genetics.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

C. Schaaf, M. Fountain, Michael D. Fountain, 2016, Diseases.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

H. Mefford, K. Yamakawa, M. Bainbridge, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Tam P. Sneddon, Andrew R. Grant, C. Betancur, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Emerging role of astrocytes in oxytocin-mediated control of neural circuits and brain functions

C. Schaaf, A. Charlet, F. Althammer, 2022, Progress in Neurobiology.

Analysis of the hypothalamic oxytocin system and oxytocin receptor-expressing astrocytes in a mouse model of Prader-Willi syndrome

V. Grinevich, C. Schaaf, Henning Fröhlich, 2022, bioRxiv.

Emerging role of astrocytes in oxytocin-mediated control of neural circuits and brain functions

C. Schaaf, A. Charlet, F. Althammer, 2022, Progress in Neurobiology.

Multiple Arterial Dissections and Connective Tissue Abnormalities

C. Schaaf, P. Ringleb, I. Hausser, 2022, Journal of clinical medicine.

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

R. Pfundt, D. Misceo, Yaping Yang, 2020, Human mutation.

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

J. Rosenfeld, I. Krantz, Ankita Patel, 2015, Molecular cell.

USP 7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and IsMutated in aHumanNeurodevelopmental Disorder Graphical

J. Rosenfeld, I. Krantz, Ankita Patel, 2015 .

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

V. Grinevich, C. Schaaf, F. Muscatelli, 2022, Translational Psychiatry.

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

C. Shaw, J. Lupski, Yaping Yang, 2022, Genome Medicine.

Phenotypic and Imaging Spectrum Associated With WDR45.

Denise L. Perry, A. Vanderver, R. Taft, 2020, Pediatric neurology.

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

C. Schaaf, Amber Stocco, G. Rathore, 2014, Movement disorders : official journal of the Movement Disorder Society.

From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs

C. Schaaf, S. Kölker, G. Hoffmann, 2022, Medizinische Genetik.

A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome

C. Schaaf, P. Lupo, D. Choukair, 2021, Clinical genetics.

A truncating mutation of Magel2 in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomes

Rodney C. Samaco, A. Malovannaya, C. Schaaf, 2022, bioRxiv.

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

P. Stankiewicz, P. Szafranski, S. Cheung, 2013, European Journal of Human Genetics.

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

H. Zoghbi, Zhandong Liu, S. Wu, 2019, Human molecular genetics.

Translational pediatrics: clinical perspective for Phelan–McDermid syndrome and autism research

C. Schaaf, Y. Sakai, S. Ohga, 2021, Pediatric Research.

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

C. Schaaf, S. Uhrig, D. Hübschmann, 2022, bioRxiv.

MiRNA-149 as a Candidate for Facial Clefting and Neural Crest Cell Migration

S. Heilmann-Heimbach, C. Schaaf, Á. Rada-Iglesias, 2021, Journal of dental research.

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

C. Schaaf, R. Goin-Kochel, Lauren R. Dowell, 2018, Journal of Autism and Developmental Disorders.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

S. Cheung, C. Schaaf, A. El-Hattab, 2016 .

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

C. Schaaf, M. Fountain, 2015, Biological Psychiatry.

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

C. Schaaf, F. Martínez-Azorín, Chun-An Chen, 2018, Journal of Human Genetics.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome

A. Geva, C. Schaaf, Z. Peremen, 2021, Frontiers in Neuroscience.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

Quantitative real-time imaging of glutathione

C. Schaaf, A. C. Ferreon, A. Bajić, 2017, Nature Communications.

Genetic causes of optic nerve hypoplasia

R. Lewis, C. Schaaf, Chun-An Chen, 2017, Journal of Medical Genetics.

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Q. K. Tan, J. Rosenfeld, K. Flanigan, 2019, Human mutation.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Diagnosis and genetics of alacrima

C. Schaaf, Joshua M Adams, 2018, Clinical genetics.

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

R. Gibbs, H. Zoghbi, E. Boerwinkle, 2011, Human molecular genetics.

The Genetics of Autism Spectrum Disorders – A Guide for Clinicians

C. Schaaf, Karsten M. Heil, 2012, Current Psychiatry Reports.

Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine

S. Fröhling, P. Schirmacher, A. Stenzinger, 2021, Genes, chromosomes & cancer.

Germline testing for homologous recombination repair genes—opportunities and challenges

C. Sutter, C. Schaaf, L. Gieldon, 2020, Genes, chromosomes & cancer.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Ellen F. Macnamara, Colleen E. Wahl, J. Rosenfeld, 2018, American journal of human genetics.

Autism genetics – an overview

C. Schaaf, Jiani Yin, Christian P. Schaaf, 2017, Prenatal diagnosis.

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

B. Peters, R. Drmanac, A. Beaudet, 2013, Nature Genetics.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

P. Stankiewicz, Z. Xia, S. Cheung, 2011, European Journal of Human Genetics.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

P. Stankiewicz, Z. Xia, Ankita Patel, 2009, Nature Genetics.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

A framework for an evidence-based gene list relevant to autism spectrum disorder

S. Scherer, W. Chung, D. Skuse, 2020, Nature Reviews Genetics.

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

C. Schaaf, M. Laugsch, A. Bajić, 2019, Scientific Reports.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

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

Han Chen, Michael D Swartz, Xiao Yu, 2019, Birth defects research.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Genetic Variation in LRP1 Associates with Stanford Type B Aortic Dissection Risk and Clinical Outcome

D. Böckler, C. Schaaf, M. Hempel, 2022, Journal of Cardiovascular Development and Disease.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

A. Afenjar, C. Schaaf, U. Grasshoff, 2022, American journal of medical genetics. Part A.

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

J. Rosenfeld, P. Stankiewicz, A. Breman, 2013, Genome research.

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

P. Stankiewicz, C. Schaaf, P. Lupo, 2018, Journal of Human Genetics.

Identification of novel candidate disease genes from de novo exonic copy number variants

Lisa T. Emrick, J. Rosenfeld, P. Stankiewicz, 2017, Genome Medicine.

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

Nicotinic acetylcholine receptors in human genetic disease

C. Schaaf, 2014, Genetics in Medicine.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Nurit Assia Batzir, C. Shaw, J. Lupski, 2021, medRxiv.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome

C. Schaaf, M. Studer, Chiara Tocco, 2022, Cells.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

The human clinical phenotypes of altered CHRNA7 copy number.

C. Schaaf, M. Gillentine, 2015, Biochemical pharmacology.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

J. Lupski, S. Cheung, C. Schaaf, 2012, BMC Medical Genetics.

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

J. Lupski, H. Zoghbi, C. Schaaf, 2009, Annals of neurology.

Patterns of co‐occurring birth defects in children with anotia and microtia

C. Schaaf, A. Scheuerle, H. Northrup, 2022, American journal of medical genetics. Part A.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, American journal of human genetics.

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

J. Rosenfeld, P. Tam, N. Gretz, 2020, PLoS genetics.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

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

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome

C. Schaaf, Weston T. Powell, J. Wrede, 2020, Pediatric pulmonology.

Next Generation Sequencing in Autism Spectrum Disorder

C. Schaaf, Jan, Jiani C. Yin, 2018 .

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

A. Beaudet, Yaping Yang, C. Schaaf, 2015, American journal of medical genetics. Part A.

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

C. Schaaf, Janson J. White, C. Calarge, 2018, Journal of affective disorders.

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

J. Lupski, C. Schaaf, Janson J. White, 2017, Journal of child and adolescent psychopharmacology.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, A. Beaudet, S. Lalani, 2017, Journal of autism and developmental disorders.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, S. Lalani, M. Shinawi, 2016, Journal of Autism and Developmental Disorders.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, B. D. de Vries, 2014, American journal of human genetics.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

C. Depienne, A. Afenjar, D. Wieczorek, 2023, Frontiers in Cell and Developmental Biology.

Imprinting: the Achilles heel of trio-based exome sequencing

C. Schaaf, A. Haeringen, G. Santen, 2016, Genetics in Medicine.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

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

Rodney C. Samaco, H. Zoghbi, Zhandong Liu, 2018, American journal of human genetics.

SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties

A. Breman, Ankita Patel, S. Cheung, 2013, Nature.

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Ankita Patel, J. Hunter, M. Shinawi, 2011, European Journal of Human Genetics.

The adult phenotype of Schaaf-Yang syndrome

C. Schaaf, C. Stumpel, B. Horsthemke, 2020, Orphanet Journal of Rare Diseases.

Schaaf‐Yang syndrome overview: Report of 78 individuals

J. Charrow, C. Schaaf, T. Roscioli, 2018, American journal of medical genetics. Part A.

Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes

C. Schaaf, Hongxing Yang, Mingshan Xue, 2017, Scientific Reports.

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations

C. Shaw-Smith, C. Schaaf, Daniëlle G. M. Bosch, 2020, American journal of medical genetics. Part A.

The complex behavioral phenotype of 15q13.3 microdeletion syndrome

J. Rosenfeld, P. Stankiewicz, A. Beaudet, 2016, Genetics in Medicine.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

Magalie S Leduc, Yaping Yang, J. Beuten, 2017, American journal of medical genetics. Part A.

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

Ankita Patel, C. Schaaf, M. Gillentine, 2017, American journal of medical genetics. Part A.

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

E. Roeder, Ankita Patel, S. Cheung, 2015, BMC Medical Genetics.

An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats

D. Bartsch, S. Herpertz, V. Grinevich, 2023, Nature Communications.

Hans Gunther and his disease

C. Schaaf, P. Madan, K. Anderson, 2007, Photodermatology, photoimmunology & photomedicine.

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

C. Schaaf, N. Desai, J. Edmond, 2023, American Journal of Neuroradiology.

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

C. Schaaf, A. Scheuerle, M. Swartz, 2021, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Wei Li, Christian P Schaaf, J. Rosenfeld, 2015, eLife.

Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele

A J Agopian, C. Schaaf, A. Scheuerle, 2020, American journal of medical genetics. Part A.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

I. Krantz, Soma Das, S. Tremblay, 2017, Journal of Human Genetics.

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study

A. Beaudet, C. Schaaf, F. Scaglia, 2019, Global pediatric health.

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

T. Bast, C. Schaaf, T. Haack, 2021, Human mutation.

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

S. Cheung, W. Craigen, C. Schaaf, 2011, American journal of medical genetics. Part A.

Solving the Autism Puzzle a Few Pieces at a Time

Huda Y. Zoghbi, H. Zoghbi, C. Schaaf, 2011, Neuron.

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

H. Fuchs, A. Köttgen, T. Meitinger, 2023, medRxiv.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

I. Krantz, Soma Das, S. Tremblay, 2018, Journal of Human Genetics.

Genomic newborn screening: Proposal of a two‐stage approach

C. Schaaf, S. Kölker, G. Hoffmann, 2021, Journal of inherited metabolic disease.

Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD)

S. Fröhling, D. Kazdal, J. Budczies, 2022, npj Precision Oncology.

Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis (Preprint)

C. Schaaf, Sarah Catrin Titgemeyer, 2020 .

Human Genetics: From Molecules to Medicine

Johannes Zschocke, Lorraine Potocki, C. Schaaf, 2011 .

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

C. Schaaf, B. Gomez-Mancilla, J. Sóvágó, 2016, Journal of autism and developmental disorders.

Comprar Human Genetics: From Molecules To Medicine | Lorraine Potocki | 9781608316717 | Lippincott Williams & Wilkins

Johannes Zschocke, Lorraine Potocki, C. Schaaf, 2012 .

Corrigendum: Quantitative real-time imaging of glutathione

Mingshan Xue, Allan Chris M. Ferreon, Mirjana Maletić-Savatić, 2017, Nature Communications.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex

H. Zoghbi, Akash J. Patel, C. Schaaf, 2019, eNeuro.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .

Novel interaction partners of the TPR/MET tyrosine kinase

C. Bartram, C. Schaaf, T. Schmitt, 2005, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

C. Schaaf, R. Goin-Kochel, Lauren R. Dowell, 2018, Journal of Autism and Developmental Disorders.

Parental perceptions of genetic testing for children with autism spectrum disorders

C. Schaaf, P. Lupo, Andrea M. Lewis, 2021, American journal of medical genetics. Part A.

Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns

C. Schaaf, Sarah Catrin Titgemeyer, 2022, JMIR pediatrics and parenting.

Facebook support groups for pediatric rare diseases: opportunities, limitations and privacy concerns (Preprint)

C. Schaaf, Sarah Catrin Titgemeyer, 2021, JMIR Pediatrics and Parenting.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

M. Mücke, K. Devriendt, C. Nellåker, 2023, medRxiv.

Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

J. Rosenfeld, E. Roeder, S. Cheung, 2015 .

Response to Briuglia et al.

C. Schaaf, F. Marbach, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Truncated rat Magel2 modelled for the study of Schaaf-Yang syndrome alters select behavioral and physiological outcomes.

Rodney C. Samaco, A. Malovannaya, C. Schaaf, 2023, Disease models & mechanisms.

Caregiver-based perception of disease burden in Schaaf-Yang syndrome.

C. Schaaf, Laura Dötsch, Theresa V Strong, 2023, Molecular genetics & genomic medicine.

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

A. Beaudet, Yaping Yang, C. Schaaf, 2015, American journal of medical genetics. Part A.

BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel

C. Sutter, C. Schaaf, S. Hirsch, 2023, Hereditary Cancer in Clinical Practice.

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

C. Schaaf, C. Netzer, F. Erger, 2019, Molecular and cellular probes.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

P. Stankiewicz, Z. Xia, Ankita Patel, 2009, Nature Genetics.

The human clinical phenotypes of altered CHRNA7 copy number.

C. Schaaf, M. Gillentine, 2015, Biochemical pharmacology.

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia

A J Agopian, C. Schaaf, A. Scheuerle, 2020, Ophthalmic epidemiology.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

Patterns of congenital anomalies among individuals with trisomy 13 in Texas

A J Agopian, C. Schaaf, A. Scheuerle, 2021, American journal of medical genetics. Part A.

MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.

C. Schaaf, Tim Schubert, 2024, Developmental medicine and child neurology.

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes

C. Schaaf, Mariana E. G. de Araujo, H. Farhan, 2024, American journal of human genetics.