R. Rogers

发表

Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling

I. MacDonald, O. Lehmann, T. Kume, 2020, bioRxiv.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Angela C. M. Luyf, S. Lovell, S. Ferdinandusse, 2019, Brain : a journal of neurology.

Phelan-McDermid syndrome: a classification system after 30 years of experience

W. E. Bennett, T. Bourgeron, T. Boeckers, 2022, Orphanet Journal of Rare Diseases.

Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.

E. Jabs, M. Labuda, L. Ptáček, 1999, Genomics.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

J. Gusella, C. Morton, M. Talkowski, 2014, Molecular Psychiatry.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Lisa T. Emrick, Julie C. Sapp, J. Rosenfeld, 2017, Genetics in Medicine.

Clinical utility of the X‐chromosome array

M. Bellomo, R. Stevenson, M. Lyons, 2013, American Journal of Medical Genetics. Part A.

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound

Q. K. Tan, R. Stevenson, S. B. Wechsler, 2017, American journal of medical genetics. Part A.

N. Brown, A. Hamosh, K. Flanigan, 2016, Brain : a journal of neurology.

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

KDM5A mutations identified in autism spectrum disorder using forward genetics

R. Louie, B. Beutler, R. Maroofian, 2020, eLife.

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

E. Alexov, M. Friez, Yunhui Peng, 2019, Journal of Human Genetics.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

C. Schwartz, K. Boycott, D. Bulman, 2011, European Journal of Human Genetics.

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

R. Pfundt, S. Skinner, R. Louie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

Tom Walsh, Augusto Morales, T. Walsh, 2016, Cold Spring Harbor molecular case studies.

A novel in‐frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

A. Srivastava, S. S. Bhat, K. Holden, 2005, American journal of medical genetics. Part A.

Evidence that SIZN1 is a candidate X‐linked mental retardation gene

Jeffrey A. Golden, C. Schwartz, J. Golden, 2008, American journal of medical genetics. Part A.

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

J. Sharp, L. Boccuto, B. Dupont, 2014, Human Genetics.

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

R. Rogers, Bridgette Aufmuth, Stephanie Monesson, 2011, Case reports in genetics.

Long‐term observation of a patient with dominant omodysplasia

J. Leroy, J. Frías, N. Champaigne, 2014, American journal of medical genetics. Part A.

Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4

Brooke T. Smith, E. Traboulsi, D. Everman, 2009, Ophthalmic genetics.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

B. V. van Bon, R. Pfundt, G. Carvill, 2021, American journal of human genetics.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

J. Howe, J. Buxbaum, B. Wirth, 2022, Brain : a journal of neurology.

Growth in Phelan–McDermid syndrome

J. S. Collins, B. Dupont, R. C. Rogers, 2011, American journal of medical genetics. Part A.

Velocardiofacial syndrome in an unexplained XX male

L. Brown, R. C. Rogers, M. C. Phelan, 2003, American journal of medical genetics. Part A.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome

U. Broeckel, D. Bick, G. Geddes, 2016, American journal of medical genetics. Part A.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

D. Fitzpatrick, R. C. Rogers, P. Turnpenny, 2006, Human molecular genetics.

A previously unreported mutation in a Currarino syndrome kindred

J. Graham, M. Friez, R. C. Rogers, 2006, American journal of medical genetics. Part A.

FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

Y. Ning, T. Ried, E. Schrock, 1998, Prenatal diagnosis.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

C. Skinner, W. Kaufmann, L. Oberman, 2023, Clinical genetics.

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

J. Sharp, R. C. Rogers, L. Boccuto, 2013, Genetics in Medicine.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

J. Gusella, C. Morton, M. Talkowski, 2014, Molecular Psychiatry.

Growth in Phelan–McDermid syndrome

J. S. Collins, B. Dupont, K. Phelan, 2011, American journal of medical genetics. Part A.