P. Wheeler

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Whole exome sequence analysis of Peters anomaly

K. David, E. Carney, E. Weh, 2014, Human Genetics.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

J. Rosenfeld, B. Torchia, L. Shaffer, 2014, American journal of medical genetics. Part A.

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

Deborah M. Costakos, T. Bardakjian, L. Reis, 2020, Clinical genetics.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

K. Jones, K. Gripp, A. Lin, 2007, American journal of medical genetics. Part A.

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

Genetic screening in patients of reproductive age

P. Wheeler, D. Bianchi, P. Wheeler, 2000, Postgraduate medicine.

A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13

C. Schwartz, T. Cox, A. Lin, 2003, American journal of medical genetics. Part A.

SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

J. Shendure, D. Nickerson, Martin Kircher, 2016, American journal of medical genetics. Part A.

Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann‐de Lange syndrome

S. Craigo, P. Wheeler, D. Bianchi, 2002, Prenatal diagnosis.

Benign hereditary chorea.

W. Dobyns, D. Weaver, P. Wheeler, 1993, Pediatric neurology.

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

W. Chung, T. Ben-Omran, K. Retterer, 2015, Cold Spring Harbor molecular case studies.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Further delineation of cardiac abnormalities in Costello syndrome.

E. Zackai, R. Weksberg, B. Marino, 2002, American journal of medical genetics.

Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.

P. Wheeler, M. Irons, D. Brocks, 2000, American journal of medical genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Partial urorectal septum malformation sequence: a report of 25 cases.

D. Weaver, P. Wheeler, 2001, American journal of medical genetics.

Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature.

M. Bull, D. Weaver, G. Vance, 1997, American journal of medical genetics.

Adults with VATER association: Long‐term prognosis

D. Weaver, P. Wheeler, 2005, American journal of medical genetics. Part A.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2011, Oncotarget.

Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl

P. Wheeler, A. Sadeghi‐Nejad, 2005, American journal of medical genetics. Part A.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

J. Lupski, P. Liu, L. Potocki, 2010, American journal of human genetics.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, E. Eichler, 2011, Journal of Medical Genetics.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

R. Bodmer, A. Afenjar, G. Mollet, 2018, PLoS genetics.

Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher–Schinzel (3C) syndrome

I. Krantz, N. Spinner, A. Toutain, 2005, American journal of medical genetics. Part A.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.

D. Weaver, P. Wheeler, C. Palmer, 1995, American journal of medical genetics.

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

J. Rosenfeld, L. Shaffer, B. Ballif, 2012, Molecular Syndromology.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

P. Sieving, S. Jacobson, A. Swaroop, 2002, American journal of human genetics.

Whole exome sequence analysis of Peters anomaly

K. David, E. Carney, E. Weh, 2014, Human Genetics.

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

F. Alkuraya, T. Arnesen, B. Webb, 2021, Genetics in Medicine.

Hypogonadism and CHARGE association.

P. Wheeler, D. Weaver, C. Quigley, 2000, American journal of medical genetics.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals

Z. Dai, P. Wheeler, Dongli Huang, 2014, American journal of medical genetics. Part A.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Gregory M. Enns, Lance H. Rodan, Wendy K. Chung, 2015, Cold Spring Harbor molecular case studies.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

K. Brennand, E. Schadt, T. Naidich, 2021, Human mutation.

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15‐22.1

P. Wheeler, J. Cowan, N. Shur, 2003, American journal of medical genetics. Part A.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

P. Wheeler, N. Rosman, P. Wheeler, 2001, Pediatric neurology.

8q23‐q24 duplication—further delineation of a rare chromosomal abnormality

P. Wheeler, 2010, American journal of medical genetics. Part A.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

W. Chung, S. B. Wechsler, R. Person, 2016, neurogenetics.

The 3C syndrome: evolution of the phenotype and growth hormone deficiency.

P. Wheeler, A. Sadeghi‐Nejad, E. Elias, 1999, American journal of medical genetics.

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

R. Parad, D. Bianchi, H. Dorkin, 2001, Genetics in Medicine.

Novel, Compound Heterozygous, Single‐Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

E. Schadt, T. Naidich, R. Rodenburg, 2015, Human mutation.

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal‐Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome

E. Schadt, M. Horb, B. Webb, 2017, Human mutation.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2022, Human mutation.

Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

P. Byers, E. Duncan, M. Szybowska, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Hypertrichosis associated with malignancy: case report and review of the literature

P. Wheeler, F. Pilsczek, V. Nield, 1997 .

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Molecular genetic testing for prenatal diagnosis.

P. Wheeler, U. Tantravahi, 2003, Clinics in laboratory medicine.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

J. Lupski, L. Potocki, M. Withers, 2010, American journal of human genetics.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Michael F. Wangler, C. Cytrynbaum, R. Weksberg, 2023, American journal of human genetics.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.