Caruana et al.  2022 - HARD working group research recommendations for aortopathies

Richer & Laberge, 2016 - review on testing for aortopathies in children.

Schaefer, 2013 - ACMG recommendations

Hashkes et al., 2019 - Clinical approach to diagnosis of autoinflammatory disorders

Gaggiano et al., 2019 - Autoinflammatory disorders in adults. Includes useful flowcharts and hints.

Almeida de Jesus et al., 2013 - Includes images and describe the categories for "classical" autoinflammatory disorders.

Daly et al., 2020 - NCCN Screening Criteria for Breast, Ovarian, and Pancreatic Cancer, 2020 Update

Ashton-Prolla, 2009 - simplified questionnaire to identify hereditary breast cancer in primary health care.

Lindor, 2008 - familial cancer overview

Zhang et al., 2020 - review on monogenic causes of fungal diseases.

Valentini et al., 2022 - Diagnostic and prognostic value of low QRS voltages in cardiomyopathies

Monda E et al., 2021 - Nonsarchomeric causes of hypertrophic cardiomyopathy (HCM) in children

Scurr I et al., 2011 - Detailed phenotipic description of Cantú syndrome, a cause of HCM in children

Reid AB et al., 2021 - MELAS case report. Includes a figure comparing findings of MELAS, Anderson-Fabry and HCM 

Van Hove et al, 2013 - Late onset MPS IIIA as a cause of HCM without neurologic involvement.

GAMUTS - Metabolic causes of cardiomyopathy and other cardiovascular phenotypes

Genereviews - overview of Pediatric Genetic Cholestatic Liver Diseases

Gupta et al., 2019 - review of NCCN criteria for testing for colorectal cancer predisposition syndromes.

Cohen & Leininger, 2014 - review on the genetic bases of Lynch syndrome

Sereno et al., 2014 - review on MUTYH-associated polyposis

Hedge et al., 2013 - review of the main syndromes associated with susceptibility to colorectal cancer, with criteria for testing.

Alford, 2014 - ACMG recommendations on clinical investigation and etiological diagnosis of hearing loss

GAMUTs - Metabolic causes of hearing loss and other ear phenotypes

Zubler et al., 2022 - Revised evidence-based development milestones

ACMG, 2020 - Systematic review on outcomes of exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Mithyantha et al., 2017 - Evidence-based recommendations on investigating children with global developmental delay

Treatable-ID - allows searching for treatable causes of intellectual disability, according to associated signs and symptoms

Forman et al., 2020 - Comprehensive review of genetic causes in children and how to recognize them.

GAMUTS - Metabolic causes of dystonia and other movement disorders

Gillespie et al., 2014 - Mild elevations of 7-DHC in Lanosterol C14-Demethylase (CYP51A1) a condition associated with isolated or syndromic cataracts

der Velden, et al. 2008 - Cerebrotendinous xanthomatosis with elevated 7-DHC

Witsch-Baumgartner et al., 2000 - Correlation between DHC levels and severity of Smith Lemli Opitz syndrome

Ingoglia et al., 2024 - MADD like pattern associated with sertraline use

Maccari et al., 2003 - elevated heparan sulfate in gel electrophoresis of patients with Pseudoxanthoma elasticum

Schmidt et al., 2016 - elevation of GAGs in septic shock

Thompson J.N., 2003 - includes a useful figure (Fig. 18.4) with a flowchart for conditions with elevated glycosaminoglycans in patients with a clinical impression of MPS

Keyfi et al., 2016 - Differential diagnosis of methylmalonic acidemias. Includes an interesting table with both serum and urinary levels of MMA.

Axeen & Oslon, 2018 - Neonatal epilepsy genetics

Blair et al., 2020 - review on diffuse gastric cancer, with guidelines on research and clinical management.

Freedman & Cohen, 2015 - Discusses APOL1 vs hypertension-attributed nephropathy

Vairo FP, et al., 2020 - Nail-patella syndrome as a cause of FSGS with myelin figures simulating Fabry Disease

Jelsig et al., 2014 - review of hamartomatous polyposis syndromes.

UpToDate - Comprehensive review of genetic and non-genetic causes of hepatomegaly in adults.

Costagiola G, et al., 2024 - A review on causes of lymphoproliferation in childhood.

GAMUTs - Metabolic causes of hepatomegaly and other liver disorders

Zenker et al., 2023 - A review on causes of syndromic hyperinsulinism

Sato et al., 2020 - Bile acid reference values to aid in the investigation of disorders of bile acid synthesis.

Motzer et al., 2020 - Review of NCCN Kidney Cancer Testing Criteria

Hasumi & Yao, 2018 - review on kidney cancer predisposition syndromes

Pillai et al., 2020 - Riboflavin Transporter Deficiency presenting as megaloblastic anemia with neurological symptoms

Torrez et al., 2021 - Acquired megaloblastic anemia

Cackmakli et al., 2019 - Macrocytosis in Lesch-Nyhan syndrome

GAMUTs - Lists IEMs associated to hematological abnormalities, including megaloblastic and macrocytic anemia

Medscape Nevi of Ota and Ito

Piscitello LM et al., 2021 - useful reference on benign movement disorders in normal infants with video examples

Sparks et al., 2020 - original research evaluating exome yield for prenatal diagnosis.

Daly et al., 2020 - NCCN Screening Criteria for Breast, Ovarian, and Pancreatic Cancer, 2020 Update

Daly et al., 2020 - NCCN Screening Criteria for Breast, Ovarian, and Pancreatic Cancer, 2020 Update

Rustgi, 2014 - hereditary pancreatic cancer review

Rüsch et al., 2020 - Describe MRI findings and checklist for clinical features to aid in the diagnosis.

Dijk et al., 2018 - Review of PCH genes and differential diagnoses

Medjkane et al., 2021 - case series and review

GAMUTS - Metabolic causes of psychiatric symptoms

Durigneux et al., 2023 - Useful decision tree for the diagnosis of acute RM cause in children (in french)

Mintz et al., 2021 - ACMG guidelines

ACMG, 2009 - ACMG guidelines for prenatal diagnosis of skeletal dysplasias

Testai & Gorelick, 2010; Testai & Gorelick, 2010. review of metabolic causes of stroke.

Saadoun et al., 2021 - Review of medium and large vessel vasculitis.

Stiles et al. - Review of causes of sudden death by the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS).

Sharkie & Jabbar, 2021 - review of causes of angiokeratomas

GAMUTs - metabolic causes of vascular skin lesions and other dermatoses

Raucci et al., 2022 - Causes of cyclic vomiting