Katheryn L. Grand

发表

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

J. Kalish, Kristin Zelley, K. Duffy, 2018, Journal of Genetic Counseling.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

S. Nelson, V. Kimonis, P. Sanchez-Lara, 2021, Journal of Medical Genetics.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

E. Zackai, I. Krantz, C. Stanley, 2019, American journal of medical genetics. Part A.

Segmental congenital hemangiomas: Three cases of a rare entity

J. Treat, M. Deardorff, T. Phung, 2020, Pediatric dermatology.

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm

Sarah E. Sheppard, M. Fitzgerald, J. Moldenhauer, 2020, American journal of medical genetics. Part A.

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development

P. Sanchez-Lara, Zhiyu Qian, A. Freedman, 2021, American journal of medical genetics. Part A.

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures

J. Graham, A. Mathie, E. Veale, 2022, Frontiers in Pharmacology.

The NuRD complex and macrocephaly associated neurodevelopmental disorders

Juan I. Young, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Jill A. Madden, E. Roeder, A. Fatemi, 2021, Molecular genetics & genomic medicine.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Beckwith–Wiedemann syndrome in diverse populations

M. Deardorff, J. Kalish, Alice C Yu, 2019, American journal of medical genetics. Part A.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Cover Image, Volume 179A, Number 4, April 2019

M. Deardorff, J. Kalish, Alice C Yu, 2019, American Journal of Medical Genetics Part A.

Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome

E. Zackai, M. Deardorff, A. Santani, 2021, American journal of medical genetics. Part A.

Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation

P. Sanchez-Lara, Ruchira Garg, Dor Markush, 2023, Pediatric Cardiology.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

D. Nickerson, M. Bamshad, J. Graham, 2021, American journal of medical genetics. Part A.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

E. Zackai, H. Hakonarson, C. Saunders, 2019, European journal of medical genetics.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

H. Hakonarson, C. Murali, Dong Li, 2019, American journal of medical genetics. Part A.

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.

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Graeme S. V. McDowell, D. Friedman, S. Berkovic, 2022, Annals of clinical and translational neurology.

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

M. Tominaga, D. Chitayat, M. Deardorff, 2018, American journal of human genetics.

WDR26-Related Intellectual Disability

M. Deardorff, C. Skraban, Katheryn L. Grand, 2019 .

Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA

M. Deardorff, G. Mirzaa, C. Prasad, 2019, American journal of medical genetics. Part A.

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome

P. Sanchez-Lara, Ruchira Garg, D. Frishberg, 2021, American journal of medical genetics. Part A.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

J. Graham, T. Pierson, S. Lynch, 2022, American journal of medical genetics. Part A.

Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening

L. Armengol, T. Pierson, P. Sanchez-Lara, 2023, Cellular and Molecular Life Sciences.

What not to expect when you're expecting: Unusual cases of placental mosaicism detected on non-invasive prenatal screening.

L. Dugoff, E. Bhoj, Erica M. Schindewolf, 2020, European journal of medical genetics.

Thinking outside “The Box”: Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr

J. Carey, P. Sanchez-Lara, C. Curry, 2021, American journal of medical genetics. Part A.

Congenital hyperinsulinism in a newborn presenting with poor feeding

P. Sanchez-Lara, B. Schweiger, Katheryn L. Grand, 2022, SAGE open medical case reports.

Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia

P. Sanchez-Lara, H. Kim, R. Lachman, 2020, American journal of medical genetics. Part A.

Genetic skin disorders: The value of a multidisciplinary clinic

Sarah E. Sheppard, L. Castelo-Soccio, E. Bhoj, 2021, American journal of medical genetics. Part A.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome

Megan K. Lessig, E. Zackai, E. Goldmuntz, 2018, American Journal of Medical Genetics. Part A.

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay

Elizabeth L. Fieg, A. Stergachis, J. Krier, 2020, Frontiers in Pharmacology.

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome

Megan K. Lessig, E. Zackai, B. Emanuel, 2018, American journal of medical genetics. Part A.